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=On a Group of Associated Congenital Malformations=
=On a Group of Associated Congenital Malformations=
===Including almost complete absence of the Muscles of the Abdominal Wall, and abnormalities of the Genito-urinary Apparatus===
===Including almost complete absence of the Muscles of the Abdominal Wall, and abnormalities of the Genito-urinary Apparatus===
By
By


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Liu. Wynne Davies, M.D.
Liu. Wynne Davies, M.D.


Received January 5th—Read February 14th, 1905
Received January 5th—Read February 14th, 1905


==Introduction==


The co-existence of several distinct congenital deformities in the same individual is common enough, but the case which forms the subject of this communication offers
The co-existence of several distinct congenital deformities in the same individual is common enough, but the case which forms the subject of this communication offers an example of a group of malformations which may lay claim to a special interest.
an example of a group of malformations which may lay
claim to a special interest.
 
Congenital non-development of the muscles of the
abdominal wall is itself a sufficiently rare abnormality,
and when met with it is wont to be associated with such
structural defects of the genito-urinary organs as were
present in this instance. ‘The association is clearly no
fortuitous one, and a study of the few recorded examples,
some of which have been observed in this country, leaves
no doubt in the mind that either the several items of the
malformation-complex are dependent upon a common
cause, or that, as is far more probable, some are primary
and others are secondary to these.
 
The recorded cases have been collected together, and
the whole subject has been discussed in a masterly
manner by HK. G. Stumme (1) in a monograph which was
published in 19038, but the examples are still so few that
further records are called for, and Dr. F. EK. Batten’s
report on the condition of the spinal cord of our patient
fills in a gap in our knowledge to which Stumme refers
with regret.
 
G. K—, a male infant, aged 8 weeks, was admitted to
the Hospital for Sick Children, Great Ormond Street, on
May 27th, 1903.
 
A. bulging forward of the chest wall and a sinking in
of the abdomen were noticed immediately after the infant’s
birth, and a few days later the abdomen began to enlarge,
whilst the protrusion of the sternum persisted.
 
The patient, the youngest of a family of three, was
born at full term. The eldest child died with convulsions
at the age of fifteen months, the second was alive and in
good health. |
 
On admission the infant was well nourished, the mouth
was conspicuously large, and there was some asymmetry
of the lower jaw. The pinne of the ears were abnormally
large, and the nose was rather flattened. The palpebral
fissures were somewhat oblique. ‘There was some asymmetry of the skull, with prominence of the right frontal
and parietal eminences.
 
The thorax was obviously asymmetrical. The sternum
protruded, and was tilted forwards and upwards, a pecuharity which has been observed in other cases of the kind,
and which results from the lack of anchorage by the recti
and other abdominal muscles.
 
The circumference at the level of the nipples was
thirteen and a half inches, and there was an expansion of
Photograph (taken after death) of the infant G. K—, showing the
furrows in the abdominal wali and the deformity of the thorax.
 
 
only a quarter of an inch on inspiration. The pectoral
muscles were well developed, as also were the muscles of
the back of the thorax. ‘
 
Physical examination of the chest revealed nothing
abnormal save that a soft systolic murmur was heard in
the first and second intercostal spaces to the left of the
sternum.
 
The appearance of the abdomen was very remarkable,
and exactly recalled that seen in Guthrie’s case, presently
to be referred to. |
 
The abdomen was large, flabby, and bulged in the
flanks. Its surface was deeply scored by a number of
longitudinal furrows, nine of which could be counted. A
deep central furrow extended from the tip of the ensiform
cartilage to the pubes, and in it was included the umbilicus which, as in other cases of the kind, was represented by a mere linear scar. A second deep furrow,
running immediately to the right of the central one,
formed a V by uniting with it below the umbilical scar.
When the sides of the furrows were held apart lines of
cicatricial tissue were exposed, and the grooves could not
be permanently smoothed out. Besides the longitudinal
furrows there were a few short and almost horizontal ones.
 
The distance from the tip of the ensiform cartilage to
the pubes was five and a half inches, and the girth, at the
level of the umbilicus, was fifteen and a half inches.
 
There appeared to be no muscular substance, capable
of contraction, in the abdominal wall. The walls acquired
no firmness when the child cried, and passing backwards
the first developed muscle which could be felt was the
erector spine. Moreover there was no response to Faradic
or galvanic stimulation in the regions which were apparently devoid of muscular coating.
 
In either flank the contours of coils of intestine were
plainly visible. During life there was some doubt whether
these coils might not have been distended and tortuous
ureters, as in Guthrie’s case.
 
The liver could be plainly felt, lying in the right hypoGROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 367
 
chondrium, and with its lower border three fingers’
breadths below the costal margin.
 
The left kidney, also, was readily palpable, but the
right kidney could not be felt during life.
 
The spleen descended to one finger’s breadth below the
costal border, and was smooth. Neither testicle was
descended, but that on the right could be made out by
palpation, lying just below the region of the kidney.
 
The contour of the transverse colon could be seen
crossing the abdomen just above the umbilicus, and the
stomach, when full, stood out prominently, and measured
three and a half to four inches in its long, and two inches
in its transverse axis.
 
When the bladder was full its outlines could be clearly
mapped out. It reached upwards to within a finger’s
breadth of the umbilicus, to which it appeared to be
anchored by its upper pole. It was distinctly spindleshaped.
 
The very easy palpability of the several abdominal
viscera was due to the absence of any resistance from
the abdominal walls.
 
Per rectwm.—When once the sphincter ani was passed
the bowel proved to be fairly capacious. The bladder was
easily palpable, as an abdominal viscus, and could be felt
to contract when distended with urine. No dilatation
of the ureters could be felt by the examining finger. The
testes were palpable, lying below the lower poles of the
kidneys.
 
There was double talipes varus.
 
The urine was of low specific gravity, was turbid,
alkaline in reaction, and had an ammoniacal odour. The
motions were greenish and contained undigested curd.
 
The child was discharged from the hospital on June
10th, but was readmitted on August 4th with a temperature of 101° F. In the lungs were small scattered
patches of broncho-pneumonia.
 
On August 5th the temperature rose to 103° F., and a
bright red area of inflammation was observed, which extended in front from the root of the neck up to the
face, and was bounded by a brighter red line, which ran
parallel with the alveolar process of the upper jaw.
 
The erysipelatous blush persisted, and the child died
on August 13th. The photograph was taken after death.
 
The report of the post-mortem examination, which was
carried out by Dr. E. P. Baumann, is as follows :
 
Length of body 224 inches, weight 74 pounds.
 
Abdomen.—The anterior abdominal wall was soft and
flabby, and through it the viscera could be palpated. On
dissecting away the skin, which was in most places unduly
adherent to the underlying fascia, there was found to be
a general failure of development of the muscles of the
anterior abdominal wall. There were seen in the fascia,
here and there, pinkish strands, which probably represented the remains of the obliqui, transversales, and
recti1 muscles. Posteriorly the erectores spine appeared
to be normally developed, whereas the quadrati lumborum
were represented by thin imperfect sheets of musclefibres. |
 
The muscles of the perineum appeared to be normally
developed. The diaphragm, intercostals (external and
internal), the pectorales, and other thoracic muscles were
also macroscopically normal. There was a boss over the
right parietal bone, which was found, on removing the
calvarium, to be an outward dent of the bone without any
thickening.
 
The bladder was enlarged and thick-walled; it extended up into the abdomen, and from its apex a urachus,
of the size of a thin lead pencil, extended to the umbilicus.
 
Both testicles lay loose in the pelvis. The right
kidney was very small, of about the size of a large bean.
The corresponding ureter appeared normal. The left
kidney was perhaps rather larger than is usual in a child
of four months. Its ureter was of normal size above, but
in the lower half became dilated to the size of a small
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 369
 
pencil. There was otherwise no marked enlargement
and no tortuosity of the ureters.
 
The capsule of the spleen was white and opaque, but
on section the organ was natural. The capsule of the
hver was also thickened and unduly adherent. The liver
was hard, and its appearance suggested interstitial change.
 
Intestines natural; some congestion of mesenteric
glands.
 
Thorax.—Nothing abnormal was found in the heart.
The lungs showed changes associated with bronchitis.
The bronchial glands were not enlarged.
 
Crantum.—The brain and membranes appeared natural.
 
Spinal cord.—No macroscopic changes.
 
We are greatly indebted to Dr. F. E. Batten, who was
good enough to examine the spinal cord and the rudiments
of muscular substance in the abdominal wall, and who
has furnished us with the following report :
 
“To the naked eye the spinal cord and nerve-roots
appeared normal. On section of the cord at various levels
the diameter was equal to that of a normal cord from a
child of the same age, with which it was compared.
 
“Qn microscopical examination no group of cells could
be seen to be absent or diminished in number or size.
 
“The number of cells in the anterior horns of five
consecutive sections at each level of the thoracic region
were counted. |
 
“The difficulty of counting cells is known to all who
have undertaken such work. ‘The personal factor plays
an important part in such counts. The two counts were
made at the same time and under similar conditions of
light and stainmg. Drawings of several sections were
made under the Zeiss projection apparatus.
 
“The following table gives the relative numbers of
cells in five consecutive sections, at various levels, compared with those in the spinal cord of another child, of
the same age, which showed no morbid changes.
370 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS
 
Spinal cord of normal child. Spinal cord of G. K.
Large Small Total. Large Small Total.
 
cells. cells. cells. cells.
1st thoracic segment... 72 ... 31 ... 103 59... 7O ... 129
2nd » ” 338... 19 =... 52 46... 29... 75
3rd » » 35... 380. ... 65 33... 41 =... | «74
4th » » 29- ... 36... 65 47... 84... 81
5th » » 41... 42... 88 49... 41 ... 90
6th % » 33... «8340... 78 55... «29... = 84
7th » » o3... 37... 90 36... 51... = §687
8th ” » 26... 21... AT 32... 51... 83
9th ” » 385... 28 ... 68 40... 41... 81
10th i, ” 44... 84 ... 78 31... 61 ... 92
1lith » » 36... 32... 68 21. ... lll... 132
12th » ” 51... 48 = ... 94 15... 1038... +118
 
488 393 464 662
 
“The number of large cells is approximately the same
in the two counts. The number of small cells is larger
in the case in which the abdominal muscles were absent.”
 
These observations clearly lend no support to the idea
that the condition of the abdominal muscles in such cases
may be due to a poliomyelitis occurring during intrauterine life.
 
On the scantily distributed and rudimentary musclefibres in the abdominal walls Dr. F. E. Batten reports as
follows :
 
“Sections were made of the entire thickness of the
abdominal wall, the sections being cut in a horizontal
direction. ‘lhey were stained by van Giessen’s method.
Specimens were also prepared from a normal child for
comparison with them, and these were cut in the same
way, and stained by the same method.
 
“The total thickness of the abdominal wall from skin
surface to peritoneum is as great in the abnormal as in
the normal specimens.
 
“In the abnormal child rather more than two-thirds of
the entire thickness of the abdominal wall is occupied by
the epidermis, cutis, and subcutaneous tissue. The
glandular elements in the skin are greatly in excess of the
normal, and the true skin is of three times the normal
thickness.
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 371
 
“The subcutaneous tissue also is greatly in excess, and
is composed of a considerable layer of fat and connective
tissue, which is not present in the specimens from the
normal child.”
 
“The ‘muscular layer,’ instead of forming about twothirds of the total thickness of the wall as in the normal
child, occupies but one-third of the total thickness.
Small bundles of what appear to be undeveloped musclefibres are seen in this region in transverse section, and in
close proximity to these some fibres cut in a horizontal
direction.
 
“The fibres of this layer are irregularly arranged, for
there are two sets of fibres cut in a transverse direction,
the superposed being considerably thicker than the deeper
layer, and between these a thin layer of fibres cut longitudinally.
 
“Except for the shape of the bundles and the arrangement of the fibres it is quite impossible to identify them
as muscle-fibres, as they have neither the shape nor the
striation of the normal muscle-fibres. The nuclei are
elongated and rod-shaped, and, as far as can be ascertained,
occupy the centres of the fibres.
 
“The fibres of the aponeuroses of the muscles, which
form a very striking feature in the normal sections, are
almost entirely absent in the sections of the abnormal
muscles. In appearance the muscular fibres resemble
unstriped muscle-fibres, or fibres in the early stage of
development, and it would appear that arrest of development had occurred in the abdominal muscles at an early
stage of their foetal hfe. There is nothing to suggest
that atrophy of a normally developed muscle has taken
place.
 
“The fact that no alteration can be found in the
spinal cord is only in accordance with our present pathological knowledge of the condition of the nerve centres in
cases of primary muscular atrophy.”
 
Of the malformations which were present in this case
372 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS
 
the following constituted the group of deformities which
calls for special consideration :
 
1. The almost complete defect of the muscles of the
abdominal wall, the recti, obliqui, and tranversales, and
the very imperfect development of the quadrati lumborum.
 
2. The foetal situation of the urinary bladder, its fusiform shape, hypertrophy and attachment to the umbilical
scar by a short urachus. _
 
3. The linear scar-like umbilicus.
 
4. The imperfect development of the right kidney.
 
5. The undescended testicles.
 
6. The carinated thorax and tilted sternum.
 
The remaining deformities, viz. :
 
7. The double talipes varus ;
 
8. The asymmetry of the skull; and
 
9. The abnormal size of the pinne of the ears ;
may be looked upon as mere concomitant malformations,
having no obvious connection with those of the first group.
 
Before proceeding to speak of similar cases, of which
accounts have been published, we have Dr. F. EH. Batten’s
permission to refer to a case recently under his care as an
out-patient at the Hospital for Sick Children, which one
of us had an opportunity of examining.
 
_ This patient also was a male child, born at full term.
At birth the anterior wall of the abdomen appeared
‘‘ plastered down ”’ to the spine, and the thorax was drawn
upwards and tilted forwards. When seen, at the age of
nine months, the appearance of the abdomen closely
resembled that observed in our patient. The skin showed
similar grooves and furrows, and no trace of functionally
active muscles in the abdominal wall could be made out.
The abdominal viscera were easily palpable, including the
bladder, which occupied the foetal position and appeared
to be attached by a urachus to the umbilical scar.
 
The child afterwards died at its home of some intercurrent disease, and no post-mortem examination was
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 373
 
made. ‘The case obviously belonged to the same group
as that which we have described and others presently to
be referred to.
 
Stumme has collected seven cases from the literature
in which there was a failure of development of the abdominal muscles, and adds to these an eighth observed by
himself. Five of these cases resemble those which we
have described more or less closely, whereas in the three
remaining cases the resemblance is much less striking,
and the published accounts of some of them are very
brief. We have not been able to find any cases to add
to Stumme’s list, nor do we know of any recorded since
his paper appeared.
 
Three of the cases may be dismissed in a few words.
 
In 1839 Frohlich (2), in a thesis which has not been
accessible to us, described a male child who presented a
defect of the lateral abdominal muscles and a condition
of pigeon-breast. However, the recti abdominis were
developed, and, as the condition of the bladder is not
mentioned, even in the account of the post-mortem examination, we may conclude that it was normal. The
testicles, moreover, lay in the scrotum.
 
In a case described by F. A. von Ammon (83) in 1842
there was a defect of the lower segment of the recti and
of other muscles of the lower part of the abdominal wall.
The patient was a male child. The bladder is not mentioned. The defective muscles are stated to have become
developed at about the time of puberty.
 
In 1890 B. Henderson (4) recorded the case of a man,
aged 60, who had a similar defect of the abdominal
muscles, including the lower segments of the recti. The
testicles were not descended, but there is no mention, in
the brief account of the case, of any abnormality of the
urinary bladder.
 
The main features of the remaining five cases we have
arranged in tabular form, which is best calculated to
bring out the points of resemblance in and differences
between them.
374 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS
 
 
Name of observer.
 
I.
W. iB. Platt (5),
1898.
(As we have been
unable to consult
the original paper
the details are
given from
Stumme’s
abstract)
 
II.
R. W. Parker (6),
1895.
Fatal case.
 
Post-mortem
examination
 
III.
 
L. Guthrie (7),
1896.
Fatal case.
Post-mortem
examination.
 
IV.
W. Osler (8),
1901
 
Vv.
 
E.G. Stumme (1),
1903.
Laparotomy ;
vertex of bladder
was freed, and the
dilated left ureter
 
was connected
with the bladder
 
 
 
 
 
patient. Age. Shape of chest.
Male| 2 Not stated, but
years| shown in the
figures to be
deformed
Male |Newly; Thoracic cavity
born | small
Male; 9 Pigeon-breast,
weeks} and costal arch
unusually wide
Male| 6
years| well marked;
lower part of
sternum thrust
forward, almost
at a right angle
with the xiphoid
cartilage
Male| 17 | Broad and very
years| flat; sternum
 
depressed at level
of sixth rib, and
coming forward
again at xiphoid
cartilage
 
 
Appearance of abdomen.
 
 
Skin doughy and irregular; horizontal furrows
 
seen in the pictures
 
Large and very flaccid ;
skin over it wrinkled
and inelastic; outline
of coils of intestine
 
clearly seen
 
Flaccid, bulging laterally ; deep vertical furrows of skin, which
could not be smoothed
out; what appeared to
be coils of intestine,
but were really coils of
ureter, seen in both
flanks
 
Harrison’s sulcus|Flattened out, bulging
 
in flanks in recumbent
position ; coils of intestine seen in peristalsis ;
furrows of skin,“ crows’
feet,” below the um_bilicus
 
Protuberant when
standing; bulging in
flanks in recumbent
position; between xiphoid cartilage and
umbilicus a number of
horizontal folds of skin;
a vertical furrow in
middle line from xiphoid cartilage to umbilicus, forking above
umbilicus; at bottom of
 
 
this groove alinear scar.
 
Umbilicus.
 
A vertical
slit ;
beneath
it a hard,
flat scar
 
Not
depressed ;
normal in
 
position ;
had the
appearance of a
surface
scar
 
Represented by |
a white
linear cicatrix; at the
bottom of
a furrow;
normal in
position
 
Linear,
forming a
furrow
about an
inch in
length
 
A flat
depression
the size of
a two-mark
piece, with
a central
scar
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 375
 
 
 
Abdominal muscles.
 
Bladder.
 
Kidneys and | Testicles,
 
 
 
 
 
ureters.
Electrical examination; recti de-|Bladder could not be — Not developed in their entire length,) made out either by scended.
but very imperfectly; fibres of} palpation or by percusboth external obliques present ;} sion. Prepuce easily
presence of internal obliques un-| retracted
certain; no sign of transversales
P.M.—Latissimus dorsi slightly de-/Bladder greatly hyper-| Pelves of Undeveloped; a band of fibres repre-| trophied; abdominalin| kidneys and |scended.
sented external oblique; erector| position; at the apexjureters greatly|Both lay
spine well developed ; quadratus| of trigone bladder wall; dilated and | in iliac
lumborum normal; rudiments of| closely adherent to rec-|hypertrophied ;| fosse,
internal oblique; transversalis| tum; no signs of ure-| orifices of quite
quite absent; a thin layer of fibres} thral obstruction. Pre-| ureters free; | free
represented upper segment of] puce easily retracted.| kidneys large |from the
rectus; lower segments wholly) No mention of any at-| and yellowish: | internal
wanting, or represented by mere] tachmentofthebladder|white in section] rings.
traces of muscular fibres to the umbilicus
P.M.—Only thetwo upper segments|Bladder much hypertro-} Kidneys not Not
of the recti show any muscular| phied, lying wholly in| enlarged, but | menfibres; the costal margins of| abdominal cavity; its|much inflamed; tioned.
the obliqui and_ transversales} apex firmly adherent tojureters dilated
showed muscle fibres for about two} the back of the umbili-|to size of small
inches below the ribs; such fibres] cal scar; no trace of/ intestine of an
reappeared in the iliac regions ;) urachus. No obstruc-| adult; very
latissimi dorsi well developed, also| tion of urethra; no, tortuous;
erectores spine; quadrati lum-| phimosis orifices free
borum rudimentary
Attachments of upper segments of/Bladder felt as a firm|No information| Not derecti to costal margin and sternum| ovoid body, reaching| could be  jscended;
clearly seen. Examination showed] almosttothe umbilicus! obtained not felt
that the boy had practically no in
abdominal muscles groins.
Electrical examination:—Recti pre-|Bladder very large, fusi-| Right kidney | Not desent above the umbilicus. Of the} form; attached to the| movable,  jscended;
lateral muscles, the transversales| umbilical scar by ajenlarged; left} could
gave the best response. Theex-| band as thick as a| kidney very | not be
ternal obliques responded, but] pencil, and 3—4 cm. in| small. Left {palpated
very feebly ; the internal obliques} length . ureter as large| externgave no response; quadrati lum-|  ~ asalamp ally; left
borum responded well chimney ; right| testicle
ureter of the |lay near
size of alittle| the
finger internal
ring.
376 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS
 
A comparison of these cases, numbered I to V, and of
our own case, and Dr. Batten’s, which will be referred to
as VI and VII respectively, brings out the following
points :
 
a. All the patients were of the male sex.
 
g. In none was there any evidence of existing obstruction to the outflow of urine, either from phimosis or any
blocking of the ureters or urethra.
 
. In several cases conspicuous deformity of the thorax
was noted, but the form varied considerably. In several
cases there was a tilting of the sternum forwards and upwards, III, IV, VI, VII.
 
§. Furrowing of the skin of the abdomen was noted in
several cases. In some it was very conspicuous, III, VI,
VII, in others comparatively trifling, IV, V.
 
z. In all the umbilicus resembled a scar, and was in
most cases linear, I, III, 1V, VI.
 
c. In all there was a conspicuous lack of development
of the abdominal muscles, but in none were all traces
absent. The upper segments of the recti were more or
less fully represented in almost every instance.
 
n. In all cases except I the bladder lay wholly in the
abdomen in the fcetal position. In Case I there was no
evidence of its presence there, but the umbilicus was linear
and scar-like.
 
@. In all cases in which the poimt could be verified,
except Cases I and II, the bladder was attached to the
umbilicus either directly or by a urachus.
 
1. In Cases II, III, and V there was conspicuous dilatation of the ureters. In VI there was only very slight
dilatation of the lower part of one ureter. In the other
cases no information on this point could be obtained.
 
x. In Cases V and VI there was conspicuous inequality
of the sizes of the two kidneys.
 
\. In all cases (except III, in connection with which
the testicles are not mentioned) the testicles had not de
scended.
The chief points in which our case differed from the
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 377
 
rest is in the absence of any noteworthy dilatation of the
ureters, and in the presence of other malformations, such
as talipes varus. .
 
Let us now pass on to consider briefly the relationship
to each other of the several abnormalities which these
cases present.
 
Dr. Bardeen, to whom Professor Osler referred the
problem, and who is entitled to speak with special
authority on the development of muscular structures,
suggested two possible explanations, which may be quoted
in his own words:
 
“1. It is possible that the lack of resistance normally
met with in the abdominal wall by the bladder, at the
time when the kidneys begin to secrete urine, may cause
the bladder to expand rather than to empty secretions
into the amniotic cavity through the urethra.
 
“©2. Under normal conditions the growth of the abdominal musculature into the membrana rewniens, the early
covering of the abdominal cavity, is preceded by the formation of a vascular plexus, supplied from above from the
internal mammary, from below by the epigastric artery.
It is possible that an abnormal arrangement of the bloodvessels in the embryo prevented the formation of this
plexus, and impeded the growth of the abdominal musculature, and that, at the same time, circulatory disturbances gave rise to the abnormal conditions found in the
bladder and ureters.”
 
Besides the possibilities here suggested, viz. that the
bladder condition is secondary to the muscular, or that
both result from a common cause, there is a third possible
explanation which is favoured by Stumme.
 
Stumme, after discussing fully the embryological
questions involved, summarises his conclusions in a
passage, of which the following is a translation :
 
“ As the result of an occlusion of the urethra, occurring
at a comparatively late period of embryonic life, retention
of urine occurred, to which the bladder, and afterwards
the ureters, responded by hypertrophy and dilatation.
378 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS


By pressure of the much dilated bladder atrophy of the
greater part of the rectus abdominis, or at least of the
entire sub-umbilical portion of that muscle, was brought
about; again the stretching, aided by pressure from the
dilated ureters, led to a similar symmetrical atrophy of
the lateral muscles of the abdominal wall.


“The enlargement of the bladder led to fusion of its
Congenital non-development of the muscles of the abdominal wall is itself a sufficiently rare abnormality, and when met with it is wont to be associated with such structural defects of the genito-urinary organs as were present in this instance. ‘The association is clearly no fortuitous one, and a study of the few recorded examples, some of which have been observed in this country, leaves no doubt in the mind that either the several items of the malformation-complex are dependent upon a common cause, or that, as is far more probable, some are primary and others are secondary to these.
vertex with the umbilicus, and later to the formation of a
urachus. Moreover, by pressure upon the umbilical
vessels, it caused a diminution of the blood-supply on the
one hand, resulting in deficient nutrition of the embryo;
and, on the other hand, by interfering with the return of
blood from the embryo, it rendered possible the development ‘of ascites, and a resulting further increase of the
abdominal extension. Lastly by obstructing the entry to
the inguinal canal, it hindered the entry of the testicle
into the processus vaginalis, and its descent into the
scrotum. :


“Later on the cause of the retention of urine disappeared. The abdominal walls, which had been stretched
to a greater or less extent, became thrown into folds and
contracted, owing to the increase of amniotic fluid which
resulted from the outflow of urine into it. The bladder
also shrank, but was unable to sink down into the lesser
pelvic cavity, on account of its being fixed to the umbilicus, and of the altered conditions in the pelvic flood.”


We are inclined to accept the view, here put forward,
The recorded cases have been collected together, and the whole subject has been discussed in a masterly manner by HK. G. Stumme (1) in a monograph which was published in 19038, but the examples are still so few that further records are called for, and Dr. F. EK. Batten’s report on the condition of the spinal cord of our patient fills in a gap in our knowledge to which Stumme refers with regret.
that the condition of the abdominal musculature is
secondary to dilatation of the bladder, and for the
following reasons :


The appearance of the abdomen in such cases suggests
that at some period it has been greatly distended by
pressure from within, and the linear cicatrices at the
bottom of the deep cutaneous furrows, observed in some
cases, may have resulted from splitting of the deeper
layers of the much stretched skin. On the other hand
there can be no doubt that any such distension had already
disappeared before the patients were born, for in more
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 3879


than one case the abdomen was said to have appeared
G. K—, a male infant, aged 8 weeks, was admitted to the Hospital for Sick Children, Great Ormond Street, on May 27th, 1903.
peculiarly flattened at the time of birth.


It is noteworthy that in no instance were the abdominal
A. bulging forward of the chest wall and a sinking in of the abdomen were noticed immediately after the infant’s birth, and a few days later the abdomen began to enlarge, whilst the protrusion of the sternum persisted.
muscles completely absent, and in the case of the recti
the defect of the lower segments was much more pronounced
than that of the upper. This strongly suggests that the
development of the muscles was not primarily at fault,
but that either their development was interfered with by
pressure from within the abdomen or that the muscles
had originally been formed in the normal manner, but
had undergone atrophy from a similar cause. That such
atrophy was due to a poliomyelitis can hardly be supposed in the light of Dr. Batten’s report on the spinal
cord of our patient, and the very careful dissection
carried out in Guthrie’s case showed that the muscles
were comparatively well developed near their peripheral
attachment, whereas the central and anterior portions
were much more defective. This is Just what might be
expected if their condition were due to the pressure from
within exerted by a central viscus, such as a distended
bladder. However, as we have seen, Dr. Batten considers
that the microscopical appearance of the rudiments of
muscles present in the abdominal wall suggest a failure of
development rather than an atrophy.


The temporary obstruction during intra-uterine life,
The patient, the youngest of a family of three, was born at full term. The eldest child died with convulsions at the age of fifteen months, the second was alive and in good health.
which Stumme’s theory involves, is not very easy to
explain, and it must be remembered that in no instance
was any condition observed which would account for
urethral obstruction, not even a tight prepuce.


The fact that all the patients have been males tempts
one to ascribe the obstruction to some kinking or constriction of the penile urethra, but as Stumme points out,
there is another possible explanation. In his case a
cystoscopic examination, made before the laparotomy at
which the apex of the bladder was freed from the umbilicus, showed a deep fold in the anterior wall of the
bladder and a displacement of the orifices of the ureters,
which lay obliquely and almost in a line with each other ;


VOL. LXXXVIII. 26
On admission the infant was well nourished, the mouth was conspicuously large, and there was some asymmetry of the lower jaw. The pinne of the ears were abnormally large, and the nose was rather flattened. The palpebral fissures were somewhat oblique. ‘There was some asymmetry of the skull, with prominence of the right frontal and parietal eminences.
380 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS


after the operation the anterior fold had disappeared, and
The thorax was obviously asymmetrical. The sternum protruded, and was tilted forwards and upwards, a pecuharity which has been observed in other cases of the kind, and which results from the lack of anchorage by the recti and other abdominal muscles.
the orifices of the ureters had assumed their normal
relations. He therefore suggests that the tugging of the
urachus may have caused some obstruction of the intramural portions of the ureters, and of the vesical orifice of
the urethra also. However, as Stumme points out, this
necessitates an attachment of the upper pole of the bladder
to the umbilicus as the prime factor, whereas such attachment has not been shown to be present in all cases.


Stumme is inclined to agree with Guthrie in attributing
The circumference at the level of the nipples was thirteen and a half inches, and there was an expansion of Photograph (taken after death) of the infant G. K—, showing the furrows in the abdominal wali and the deformity of the thorax.
the abnormality of the umbilicus to the drag of the distended bladder upon it, but it is noteworthy that in
Platt’s case, in which no evidence of abnormal situation
or size of the bladder was forthcoming, and in Parker’s
case, in which no attachment of the bladder to the
umbilicus is mentioned in the report of the autopsy,
similar abnormalities of the navel were observed.


The condition of the thorax in our case, and the similar
deformities observed in other cases, seems to be sufficiently
explained by the want of the anchorage which under
ordinary circumstances is supplied by the abdominal
muscles.


REFERENCES.
only a quarter of an inch on inspiration. The pectoral muscles were well developed, as also were the muscles of the back of the thorax.


1. E.G. Stummz.—Ueber die Symmetrischen kongenitalen Bauchmuskeldefekte und iiber die Kombination
Physical examination of the chest revealed nothing abnormal save that a soft systolic murmur was heard in the first and second intercostal spaces to the left of the sternum.
derselben mit anderen Bildungsanomalien des Rumpfes.
Mitteilungen aus den Grenzgebieten der Medizin und
Chirurgie, x1, 548, 1903. |


2. FrouLtico.—Der Mangel der Muskeln inbesondere der
The appearance of the abdomen was very remarkable, and exactly recalled that seen in Guthrie’s case, presently to be referred to.
Seitenbauchmuskeln. Dissertation, Wurzburg, 1839.


3. F. A. von Ammon.—Die angeborenen chirurgischen
The abdomen was large, flabby, and bulged in the flanks. Its surface was deeply scored by a number of longitudinal furrows, nine of which could be counted. A deep central furrow extended from the tip of the ensiform cartilage to the pubes, and in it was included the umbilicus which, as in other cases of the kind, was represented by a mere linear scar. A second deep furrow, running immediately to the right of the central one, formed a V by uniting with it below the umbilical scar. When the sides of the furrows were held apart lines of cicatricial tissue were exposed, and the grooves could not be permanently smoothed out. Besides the longitudinal furrows there were a few short and almost horizontal ones.
Krankheiten des Menschen, 1842, p. 59.


4. B. Henprerson.—Congenital Absence of Abdominal
The distance from the tip of the ensiform cartilage to the pubes was five and a half inches, and the girth, at the level of the umbilicus, was fifteen and a half inches.
Muscles. Glasgow Medical Journal, xxxin, p. 63, 1890.


5. W. B. Prarr.—A rare case of Deficiency of the
There appeared to be no muscular substance, capable of contraction, in the abdominal wall. The walls acquired no firmness when the child cried, and passing backwards the first developed muscle which could be felt was the erector spine. Moreover there was no response to Faradic or galvanic stimulation in the regions which were apparently devoid of muscular coating.
Abdominal Muscles. Philadelphia Medical Journal, 1,
738, 1898.


6. R. W. Parxer.—Case of an Infant in whom some of
In either flank the contours of coils of intestine were plainly visible. During life there was some doubt whether these coils might not have been distended and tortuous ureters, as in Guthrie’s case.
the Abdominal muscles were absent. Transactions of the
Clinical Society of London, xxvin, 201, 1895.
 
7. L. Gurarie.—Case of Congenital deficiency of the
Abdominal Muscles. Transactions of the Pathological
Society of London, xlvu, 189, 1896.
 
8. W. Oster.—Congenital Absence of the Abdominal
Muscles with Distended and MHypertrophied Urinary
Bladder. Johns Hopkins Hospital Bulletin, xii, 331,
1901.
 
==Discussion==
 
ON A
 
GROUP OF ASSOCIATED CONGENITAL
MALFORMATIONS,
 
INCLUDING ALMOST COMPLETE ABSENCE OF THE
MUSCLES OF THE ABDOMINAL WALL, AND
ABNORMALITIES OF THE GENITOURINARY APPARATUS
 
BY
 
ARCHIBALD E. GARROD, M.D.
 
AND
 
Liu. WYNNE DAVIES, M.D.
 
 
Received January 5th—Read February 14th, 1905
 
THE co-existence of several distinct congenital deformities in the same individual is common enough, but the
case which forms the subject of this communication offers
an example of a group of malformations which may lay
claim to a special interest.
 
Congenital non-development of the muscles of the
abdominal wall is itself a sufficiently rare abnormality,
and when met with it is wont to be associated with such
structural defects of the genito-urinary organs as were
present in this instance. ‘The association is clearly no
fortuitous one, and a study of the few recorded examples,
some of which have been observed in this country, leaves
 
VOL. LXXXVIII. 20
364 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS
 
no doubt in the mind that either the several items of the
malformation-complex are dependent upon a common
cause, or that, as is far more probable, some are primary
and others are secondary to these.
 
The recorded cases have been collected together, and
the whole subject has been discussed in a masterly
manner by HK. G. Stumme (1) in a monograph which was
published in 19038, but the examples are still so few that
further records are called for, and Dr. F. EK. Batten’s
report on the condition of the spinal cord of our patient
fills in a gap in our knowledge to which Stumme refers
with regret.
 
G. K—, a male infant, aged 8 weeks, was admitted to
the Hospital for Sick Children, Great Ormond Street, on
May 27th, 1903.
 
A. bulging forward of the chest wall and a sinking in
of the abdomen were noticed immediately after the infant’s
birth, and a few days later the abdomen began to enlarge,
whilst the protrusion of the sternum persisted.
 
The patient, the youngest of a family of three, was
born at full term. The eldest child died with convulsions
at the age of fifteen months, the second was alive and in
good health. |
 
On admission the infant was well nourished, the mouth
was conspicuously large, and there was some asymmetry
of the lower jaw. The pinne of the ears were abnormally
large, and the nose was rather flattened. The palpebral
fissures were somewhat oblique. ‘There was some asymmetry of the skull, with prominence of the right frontal
and parietal eminences.
 
The thorax was obviously asymmetrical. The sternum
protruded, and was tilted forwards and upwards, a pecuharity which has been observed in other cases of the kind,
and which results from the lack of anchorage by the recti
and other abdominal muscles.
 
The circumference at the level of the nipples was
thirteen and a half inches, and there was an expansion of
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 369
 
 
Photograph (taken after death) of the infant G. K—, showing the
furrows in the abdominal wali and the deformity of the thorax. —
366 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS
 
only a quarter of an inch on inspiration. The pectoral
muscles were well developed, as also were the muscles of
the back of the thorax. ‘
 
Physical examination of the chest revealed nothing
abnormal save that a soft systolic murmur was heard in
the first and second intercostal spaces to the left of the
sternum.
 
The appearance of the abdomen was very remarkable,
and exactly recalled that seen in Guthrie’s case, presently
to be referred to. |
 
The abdomen was large, flabby, and bulged in the
flanks. Its surface was deeply scored by a number of
longitudinal furrows, nine of which could be counted. A
deep central furrow extended from the tip of the ensiform
cartilage to the pubes, and in it was included the umbilicus which, as in other cases of the kind, was represented by a mere linear scar. A second deep furrow,
running immediately to the right of the central one,
formed a V by uniting with it below the umbilical scar.
When the sides of the furrows were held apart lines of
cicatricial tissue were exposed, and the grooves could not
be permanently smoothed out. Besides the longitudinal
furrows there were a few short and almost horizontal ones.
 
The distance from the tip of the ensiform cartilage to
the pubes was five and a half inches, and the girth, at the
level of the umbilicus, was fifteen and a half inches.
 
There appeared to be no muscular substance, capable
of contraction, in the abdominal wall. The walls acquired
no firmness when the child cried, and passing backwards
the first developed muscle which could be felt was the
erector spine. Moreover there was no response to Faradic
or galvanic stimulation in the regions which were apparently devoid of muscular coating.
 
In either flank the contours of coils of intestine were
plainly visible. During life there was some doubt whether
these coils might not have been distended and tortuous
ureters, as in Guthrie’s case.


The liver could be plainly felt, lying in the right hypoGROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 367
The liver could be plainly felt, lying in the right hypoGROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 367


chondrium, and with its lower border three fingers’
chondrium, and with its lower border three fingers’ breadths below the costal margin.
breadths below the costal margin.


The left kidney, also, was readily palpable, but the
The left kidney, also, was readily palpable, but the right kidney could not be felt during life.
right kidney could not be felt during life.


The spleen descended to one finger’s breadth below the
The spleen descended to one finger’s breadth below the costal border, and was smooth. Neither testicle was descended, but that on the right could be made out by palpation, lying just below the region of the kidney.
costal border, and was smooth. Neither testicle was
descended, but that on the right could be made out by
palpation, lying just below the region of the kidney.


The contour of the transverse colon could be seen
The contour of the transverse colon could be seen crossing the abdomen just above the umbilicus, and the stomach, when full, stood out prominently, and measured three and a half to four inches in its long, and two inches in its transverse axis.
crossing the abdomen just above the umbilicus, and the
stomach, when full, stood out prominently, and measured
three and a half to four inches in its long, and two inches
in its transverse axis.


When the bladder was full its outlines could be clearly
When the bladder was full its outlines could be clearly mapped out. It reached upwards to within a finger’s breadth of the umbilicus, to which it appeared to be anchored by its upper pole. It was distinctly spindleshaped.
mapped out. It reached upwards to within a finger’s
breadth of the umbilicus, to which it appeared to be
anchored by its upper pole. It was distinctly spindleshaped.


The very easy palpability of the several abdominal
The very easy palpability of the several abdominal viscera was due to the absence of any resistance from the abdominal walls.
viscera was due to the absence of any resistance from
the abdominal walls.


Per rectwm.—When once the sphincter ani was passed
Per rectwm.—When once the sphincter ani was passed the bowel proved to be fairly capacious. The bladder was easily palpable, as an abdominal viscus, and could be felt to contract when distended with urine. No dilatation of the ureters could be felt by the examining finger. The testes were palpable, lying below the lower poles of the kidneys.
the bowel proved to be fairly capacious. The bladder was
easily palpable, as an abdominal viscus, and could be felt
to contract when distended with urine. No dilatation
of the ureters could be felt by the examining finger. The
testes were palpable, lying below the lower poles of the
kidneys.


There was double talipes varus.
There was double talipes varus.


The urine was of low specific gravity, was turbid,
The urine was of low specific gravity, was turbid, alkaline in reaction, and had an ammoniacal odour. The motions were greenish and contained undigested curd.
alkaline in reaction, and had an ammoniacal odour. The
motions were greenish and contained undigested curd.


The child was discharged from the hospital on June
The child was discharged from the hospital on June 10th, but was readmitted on August 4th with a temperature of 101° F. In the lungs were small scattered patches of broncho-pneumonia.
10th, but was readmitted on August 4th with a temperature of 101° F. In the lungs were small scattered
patches of broncho-pneumonia.


On August 5th the temperature rose to 103° F., and a
On August 5th the temperature rose to 103° F., and a bright red area of inflammation was observed, which extended in front from the root of the neck up to the face, and was bounded by a brighter red line, which ran parallel with the alveolar process of the upper jaw.
bright red area of inflammation was observed, which
368 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS


extended in front from the root of the neck up to the
The erysipelatous blush persisted, and the child died on August 13th. The photograph was taken after death.
face, and was bounded by a brighter red line, which ran
parallel with the alveolar process of the upper jaw.


The erysipelatous blush persisted, and the child died
The report of the post-mortem examination, which was carried out by Dr. E. P. Baumann, is as follows :
on August 13th. The photograph was taken after death.
 
The report of the post-mortem examination, which was
carried out by Dr. E. P. Baumann, is as follows :


Length of body 224 inches, weight 74 pounds.
Length of body 224 inches, weight 74 pounds.


Abdomen.—The anterior abdominal wall was soft and
Abdomen. — The anterior abdominal wall was soft and flabby, and through it the viscera could be palpated. On dissecting away the skin, which was in most places unduly adherent to the underlying fascia, there was found to be a general failure of development of the muscles of the anterior abdominal wall. There were seen in the fascia, here and there, pinkish strands, which probably represented the remains of the obliqui, transversales, and recti1 muscles. Posteriorly the erectores spine appeared to be normally developed, whereas the quadrati lumborum were represented by thin imperfect sheets of musclefibres. |
flabby, and through it the viscera could be palpated. On
dissecting away the skin, which was in most places unduly
adherent to the underlying fascia, there was found to be
a general failure of development of the muscles of the
anterior abdominal wall. There were seen in the fascia,
here and there, pinkish strands, which probably represented the remains of the obliqui, transversales, and
recti1 muscles. Posteriorly the erectores spine appeared
to be normally developed, whereas the quadrati lumborum
were represented by thin imperfect sheets of musclefibres. |


The muscles of the perineum appeared to be normally
The muscles of the perineum appeared to be normally developed. The diaphragm, intercostals (external and internal), the pectorales, and other thoracic muscles were also macroscopically normal. There was a boss over the right parietal bone, which was found, on removing the calvarium, to be an outward dent of the bone without any thickening.
developed. The diaphragm, intercostals (external and
internal), the pectorales, and other thoracic muscles were
also macroscopically normal. There was a boss over the
right parietal bone, which was found, on removing the
calvarium, to be an outward dent of the bone without any
thickening.


The bladder was enlarged and thick-walled; it extended up into the abdomen, and from its apex a urachus,
The bladder was enlarged and thick-walled; it extended up into the abdomen, and from its apex a urachus, of the size of a thin lead pencil, extended to the umbilicus.
of the size of a thin lead pencil, extended to the umbilicus.


Both testicles lay loose in the pelvis. The right
Both testicles lay loose in the pelvis. The right kidney was very small, of about the size of a large bean. The corresponding ureter appeared normal. The left kidney was perhaps rather larger than is usual in a child of four months. Its ureter was of normal size above, but in the lower half became dilated to the size of a small pencil. There was otherwise no marked enlargement and no tortuosity of the ureters.
kidney was very small, of about the size of a large bean.
The corresponding ureter appeared normal. The left
kidney was perhaps rather larger than is usual in a child
of four months. Its ureter was of normal size above, but
in the lower half became dilated to the size of a small
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 369


pencil. There was otherwise no marked enlargement
and no tortuosity of the ureters.


The capsule of the spleen was white and opaque, but
The capsule of the spleen was white and opaque, but on section the organ was natural. The capsule of the hver was also thickened and unduly adherent. The liver was hard, and its appearance suggested interstitial change.
on section the organ was natural. The capsule of the
hver was also thickened and unduly adherent. The liver
was hard, and its appearance suggested interstitial change.


Intestines natural; some congestion of mesenteric
Intestines natural; some congestion of mesenteric glands.
glands.


Thorax.—Nothing abnormal was found in the heart.
Thorax.—Nothing abnormal was found in the heart. The lungs showed changes associated with bronchitis. The bronchial glands were not enlarged.
The lungs showed changes associated with bronchitis.
The bronchial glands were not enlarged.


Crantum.—The brain and membranes appeared natural.
Crantum.—The brain and membranes appeared natural.


Spinal cord.—No macroscopic changes.
Spinal cord. — No macroscopic changes.


We are greatly indebted to Dr. F. E. Batten, who was
We are greatly indebted to Dr. F. E. Batten, who was good enough to examine the spinal cord and the rudiments of muscular substance in the abdominal wall, and who has furnished us with the following report :
good enough to examine the spinal cord and the rudiments
of muscular substance in the abdominal wall, and who
has furnished us with the following report :


“To the naked eye the spinal cord and nerve-roots
“To the naked eye the spinal cord and nerve-roots appeared normal. On section of the cord at various levels the diameter was equal to that of a normal cord from a child of the same age, with which it was compared.
appeared normal. On section of the cord at various levels
the diameter was equal to that of a normal cord from a
child of the same age, with which it was compared.


“Qn microscopical examination no group of cells could
“Qn microscopical examination no group of cells could be seen to be absent or diminished in number or size.
be seen to be absent or diminished in number or size.


“The number of cells in the anterior horns of five
“The number of cells in the anterior horns of five consecutive sections at each level of the thoracic region were counted.
consecutive sections at each level of the thoracic region
were counted. |


“The difficulty of counting cells is known to all who
“The difficulty of counting cells is known to all who have undertaken such work. ‘The personal factor plays an important part in such counts. The two counts were made at the same time and under similar conditions of light and stainmg. Drawings of several sections were made under the Zeiss projection apparatus.
have undertaken such work. ‘The personal factor plays
an important part in such counts. The two counts were
made at the same time and under similar conditions of
light and stainmg. Drawings of several sections were
made under the Zeiss projection apparatus.


“The following table gives the relative numbers of
“The following table gives the relative numbers of cells in five consecutive sections, at various levels, compared with those in the spinal cord of another child, of the same age, which showed no morbid changes.  
cells in five consecutive sections, at various levels, compared with those in the spinal cord of another child, of
Spinal cord of normal child. Spinal cord of G. K.
the same age, which showed no morbid changes.
370 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS


Spinal cord of normal child. Spinal cord of G. K.
Large Small Total. Large Small Total.
Large Small Total. Large Small Total.


cells. cells. cells. cells.
cells. cells. cells. cells. 1st thoracic segment... 72 ... 31 ... 103 59... 7O ... 129 2nd » ” 338... 19 =... 52 46... 29... 75 3rd » » 35... 380. ... 65 33... 41 =... | «74 4th » » 29- ... 36... 65 47... 84... 81 5th » » 41... 42... 88 49... 41 ... 90 6th % » 33... «8340... 78 55... «29... = 84 7th » » o3... 37... 90 36... 51... = §687 8th ” » 26... 21... AT 32... 51... 83 9th ” » 385... 28 ... 68 40... 41... 81 10th i, ” 44... 84 ... 78 31... 61 ... 92 1lith » » 36... 32... 68 21. ... lll... 132 12th » ” 51... 48 = ... 94 15... 1038... +118
1st thoracic segment... 72 ... 31 ... 103 59... 7O ... 129
2nd » ” 338... 19 =... 52 46... 29... 75
3rd » » 35... 380. ... 65 33... 41 =... | «74
4th » » 29- ... 36... 65 47... 84... 81
5th » » 41... 42... 88 49... 41 ... 90
6th % » 33... «8340... 78 55... «29... = 84
7th » » o3... 37... 90 36... 51... = §687
8th ” » 26... 21... AT 32... 51... 83
9th ” » 385... 28 ... 68 40... 41... 81
10th i, ” 44... 84 ... 78 31... 61 ... 92
1lith » » 36... 32... 68 21. ... lll... 132
12th » ” 51... 48 = ... 94 15... 1038... +118


488 393 464 662
488 393 464 662


“The number of large cells is approximately the same
“The number of large cells is approximately the same in the two counts. The number of small cells is larger in the case in which the abdominal muscles were absent.”
in the two counts. The number of small cells is larger
in the case in which the abdominal muscles were absent.”


These observations clearly lend no support to the idea
These observations clearly lend no support to the idea that the condition of the abdominal muscles in such cases may be due to a poliomyelitis occurring during intrauterine life.
that the condition of the abdominal muscles in such cases
may be due to a poliomyelitis occurring during intrauterine life.


On the scantily distributed and rudimentary musclefibres in the abdominal walls Dr. F. E. Batten reports as
On the scantily distributed and rudimentary musclefibres in the abdominal walls Dr. F. E. Batten reports as follows :
follows :


“Sections were made of the entire thickness of the
“Sections were made of the entire thickness of the abdominal wall, the sections being cut in a horizontal direction. ‘lhey were stained by van Giessen’s method. Specimens were also prepared from a normal child for comparison with them, and these were cut in the same way, and stained by the same method.
abdominal wall, the sections being cut in a horizontal
direction. ‘lhey were stained by van Giessen’s method.
Specimens were also prepared from a normal child for
comparison with them, and these were cut in the same
way, and stained by the same method.


“The total thickness of the abdominal wall from skin
“The total thickness of the abdominal wall from skin surface to peritoneum is as great in the abnormal as in the normal specimens.
surface to peritoneum is as great in the abnormal as in
the normal specimens.


“In the abnormal child rather more than two-thirds of
“In the abnormal child rather more than two-thirds of the entire thickness of the abdominal wall is occupied by the epidermis, cutis, and subcutaneous tissue. The glandular elements in the skin are greatly in excess of the normal, and the true skin is of three times the normal thickness.
the entire thickness of the abdominal wall is occupied by
the epidermis, cutis, and subcutaneous tissue. The
glandular elements in the skin are greatly in excess of the
normal, and the true skin is of three times the normal
thickness.
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 371


“The subcutaneous tissue also is greatly in excess, and
is composed of a considerable layer of fat and connective
tissue, which is not present in the specimens from the
normal child.”


“The ‘muscular layer,’ instead of forming about twothirds of the total thickness of the wall as in the normal
“The subcutaneous tissue also is greatly in excess, and is composed of a considerable layer of fat and connective tissue, which is not present in the specimens from the normal child.”
child, occupies but one-third of the total thickness.
Small bundles of what appear to be undeveloped musclefibres are seen in this region in transverse section, and in
close proximity to these some fibres cut in a horizontal
direction.


“The fibres of this layer are irregularly arranged, for
“The ‘muscular layer,’ instead of forming about twothirds of the total thickness of the wall as in the normal child, occupies but one-third of the total thickness. Small bundles of what appear to be undeveloped musclefibres are seen in this region in transverse section, and in close proximity to these some fibres cut in a horizontal direction.
there are two sets of fibres cut in a transverse direction,
the superposed being considerably thicker than the deeper
layer, and between these a thin layer of fibres cut longitudinally.


“Except for the shape of the bundles and the arrangement of the fibres it is quite impossible to identify them
“The fibres of this layer are irregularly arranged, for there are two sets of fibres cut in a transverse direction, the superposed being considerably thicker than the deeper layer, and between these a thin layer of fibres cut longitudinally.
as muscle-fibres, as they have neither the shape nor the
striation of the normal muscle-fibres. The nuclei are
elongated and rod-shaped, and, as far as can be ascertained,
occupy the centres of the fibres.


“The fibres of the aponeuroses of the muscles, which
“Except for the shape of the bundles and the arrangement of the fibres it is quite impossible to identify them as muscle-fibres, as they have neither the shape nor the striation of the normal muscle-fibres. The nuclei are elongated and rod-shaped, and, as far as can be ascertained, occupy the centres of the fibres.
form a very striking feature in the normal sections, are
almost entirely absent in the sections of the abnormal
muscles. In appearance the muscular fibres resemble
unstriped muscle-fibres, or fibres in the early stage of
development, and it would appear that arrest of development had occurred in the abdominal muscles at an early
stage of their foetal hfe. There is nothing to suggest
that atrophy of a normally developed muscle has taken
place.


“The fact that no alteration can be found in the
“The fibres of the aponeuroses of the muscles, which form a very striking feature in the normal sections, are almost entirely absent in the sections of the abnormal muscles. In appearance the muscular fibres resemble unstriped muscle-fibres, or fibres in the early stage of development, and it would appear that arrest of development had occurred in the abdominal muscles at an early stage of their foetal hfe. There is nothing to suggest that atrophy of a normally developed muscle has taken place.
spinal cord is only in accordance with our present pathological knowledge of the condition of the nerve centres in
cases of primary muscular atrophy.”


Of the malformations which were present in this case
“The fact that no alteration can be found in the spinal cord is only in accordance with our present pathological knowledge of the condition of the nerve centres in cases of primary muscular atrophy.”
372 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS


the following constituted the group of deformities which
Of the malformations which were present in this case the following constituted the group of deformities which calls for special consideration :
calls for special consideration :


1. The almost complete defect of the muscles of the
1. The almost complete defect of the muscles of the abdominal wall, the recti, obliqui, and tranversales, and the very imperfect development of the quadrati lumborum.
abdominal wall, the recti, obliqui, and tranversales, and
the very imperfect development of the quadrati lumborum.


2. The foetal situation of the urinary bladder, its fusiform shape, hypertrophy and attachment to the umbilical
2. The foetal situation of the urinary bladder, its fusiform shape, hypertrophy and attachment to the umbilical scar by a short urachus. _
scar by a short urachus. _


3. The linear scar-like umbilicus.
3. The linear scar-like umbilicus.
Line 1,279: Line 176:
8. The asymmetry of the skull; and
8. The asymmetry of the skull; and


9. The abnormal size of the pinne of the ears ;
9. The abnormal size of the pinne of the ears ; may be looked upon as mere concomitant malformations, having no obvious connection with those of the first group.
may be looked upon as mere concomitant malformations,
having no obvious connection with those of the first group.


Before proceeding to speak of similar cases, of which
Before proceeding to speak of similar cases, of which accounts have been published, we have Dr. F. EH. Batten’s permission to refer to a case recently under his care as an out-patient at the Hospital for Sick Children, which one of us had an opportunity of examining.
accounts have been published, we have Dr. F. EH. Batten’s
permission to refer to a case recently under his care as an
out-patient at the Hospital for Sick Children, which one
of us had an opportunity of examining.


_ This patient also was a male child, born at full term.
At birth the anterior wall of the abdomen appeared
‘‘ plastered down ”’ to the spine, and the thorax was drawn
upwards and tilted forwards. When seen, at the age of
nine months, the appearance of the abdomen closely
resembled that observed in our patient. The skin showed
similar grooves and furrows, and no trace of functionally
active muscles in the abdominal wall could be made out.
The abdominal viscera were easily palpable, including the
bladder, which occupied the foetal position and appeared
to be attached by a urachus to the umbilical scar.


The child afterwards died at its home of some intercurrent disease, and no post-mortem examination was
This patient also was a male child, born at full term. At birth the anterior wall of the abdomen appeared ‘‘ plastered down ”’ to the spine, and the thorax was drawn upwards and tilted forwards. When seen, at the age of nine months, the appearance of the abdomen closely resembled that observed in our patient. The skin showed similar grooves and furrows, and no trace of functionally active muscles in the abdominal wall could be made out. The abdominal viscera were easily palpable, including the bladder, which occupied the foetal position and appeared to be attached by a urachus to the umbilical scar.
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 373


made. ‘The case obviously belonged to the same group
as that which we have described and others presently to
be referred to.


Stumme has collected seven cases from the literature
The child afterwards died at its home of some intercurrent disease, and no post-mortem examination was made. The case obviously belonged to the same group as that which we have described and others presently to be referred to.
in which there was a failure of development of the abdominal muscles, and adds to these an eighth observed by
 
himself. Five of these cases resemble those which we
Stumme has collected seven cases from the literature in which there was a failure of development of the abdominal muscles, and adds to these an eighth observed by himself. Five of these cases resemble those which we have described more or less closely, whereas in the three remaining cases the resemblance is much less striking, and the published accounts of some of them are very brief. We have not been able to find any cases to add to Stumme’s list, nor do we know of any recorded since his paper appeared.
have described more or less closely, whereas in the three
remaining cases the resemblance is much less striking,
and the published accounts of some of them are very
brief. We have not been able to find any cases to add
to Stumme’s list, nor do we know of any recorded since
his paper appeared.


Three of the cases may be dismissed in a few words.
Three of the cases may be dismissed in a few words.


In 1839 Frohlich (2), in a thesis which has not been
In 1839 Frohlich (2), in a thesis which has not been accessible to us, described a male child who presented a defect of the lateral abdominal muscles and a condition of pigeon-breast. However, the recti abdominis were developed, and, as the condition of the bladder is not mentioned, even in the account of the post-mortem examination, we may conclude that it was normal. The testicles, moreover, lay in the scrotum.
accessible to us, described a male child who presented a
defect of the lateral abdominal muscles and a condition
of pigeon-breast. However, the recti abdominis were
developed, and, as the condition of the bladder is not
mentioned, even in the account of the post-mortem examination, we may conclude that it was normal. The
testicles, moreover, lay in the scrotum.
 
In a case described by F. A. von Ammon (83) in 1842
there was a defect of the lower segment of the recti and
of other muscles of the lower part of the abdominal wall.
The patient was a male child. The bladder is not mentioned. The defective muscles are stated to have become
developed at about the time of puberty.


In 1890 B. Henderson (4) recorded the case of a man,
aged 60, who had a similar defect of the abdominal
muscles, including the lower segments of the recti. The
testicles were not descended, but there is no mention, in
the brief account of the case, of any abnormality of the
urinary bladder.


The main features of the remaining five cases we have
In a case described by F. A. von Ammon (83) in 1842 there was a defect of the lower segment of the recti and of other muscles of the lower part of the abdominal wall. The patient was a male child. The bladder is not mentioned. The defective muscles are stated to have become developed at about the time of puberty.
arranged in tabular form, which is best calculated to
bring out the points of resemblance in and differences
between them.
374 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS




Name of observer.
In 1890 B. Henderson (4) recorded the case of a man, aged 60, who had a similar defect of the abdominal muscles, including the lower segments of the recti. The testicles were not descended, but there is no mention, in the brief account of the case, of any abnormality of the urinary bladder.


I.
W. iB. Platt (5),
1898.
(As we have been
unable to consult
the original paper
the details are
given from
Stumme’s
abstract)


II.
The main features of the remaining five cases we have arranged in tabular form, which is best calculated to bring out the points of resemblance in and differences between them.  
R. W. Parker (6),
1895.
Fatal case.


Post-mortem
examination


III.
Name of observer.


L. Guthrie (7),
I. W. iB. Platt (5), 1898. (As we have been unable to consult the original paper the details are given from Stumme’s abstract)
1896.
Fatal case.
Post-mortem
examination.


IV.
II. R. W. Parker (6), 1895. Fatal case.
W. Osler (8),
1901


Vv.
Post-mortem examination


E.G. Stumme (1),
III. L. Guthrie (7), 1896. Fatal case. Post-mortem examination.
1903.
Laparotomy ;
vertex of bladder
was freed, and the
dilated left ureter


was connected
IV. W. Osler (8), 1901
with the bladder


Vv.


E.G. Stumme (1), 1903. Laparotomy ; vertex of bladder was freed, and the dilated left ureter


was connected with the bladder




patient. Age. Shape of chest.
Male| 2 Not stated, but
years| shown in the
figures to be
deformed
Male |Newly; Thoracic cavity
born | small
Male; 9 Pigeon-breast,
weeks} and costal arch
unusually wide
Male| 6
years| well marked;
lower part of
sternum thrust
forward, almost
at a right angle
with the xiphoid
cartilage
Male| 17 | Broad and very
years| flat; sternum


depressed at level
patient. Age. Shape of chest. Male| 2 Not stated, but years| shown in the figures to be deformed Male |Newly; Thoracic cavity born | small Male; 9 Pigeon-breast, weeks} and costal arch unusually wide Male| 6 years| well marked; lower part of sternum thrust forward, almost at a right angle with the xiphoid cartilage Male| 17 | Broad and very years| flat; sternum
of sixth rib, and
coming forward
again at xiphoid
cartilage


depressed at level of sixth rib, and coming forward again at xiphoid cartilage


Appearance of abdomen.
Appearance of abdomen.


Skin doughy and irregular; horizontal furrows
Skin doughy and irregular; horizontal furrows
Line 1,439: Line 232:
seen in the pictures
seen in the pictures


Large and very flaccid ;
Large and very flaccid ; skin over it wrinkled and inelastic; outline of coils of intestine
skin over it wrinkled
and inelastic; outline
of coils of intestine


clearly seen
clearly seen


Flaccid, bulging laterally ; deep vertical furrows of skin, which
Flaccid, bulging laterally ; deep vertical furrows of skin, which could not be smoothed out; what appeared to be coils of intestine, but were really coils of ureter, seen in both flanks
could not be smoothed
out; what appeared to
be coils of intestine,
but were really coils of
ureter, seen in both
flanks


Harrison’s sulcus|Flattened out, bulging
Harrison’s sulcus|Flattened out, bulging


in flanks in recumbent
in flanks in recumbent position ; coils of intestine seen in peristalsis ; furrows of skin,“ crows’ feet,” below the um_bilicus
position ; coils of intestine seen in peristalsis ;
furrows of skin,“ crows’
feet,” below the um_bilicus
 
Protuberant when
standing; bulging in
flanks in recumbent
position; between xiphoid cartilage and
umbilicus a number of
horizontal folds of skin;
a vertical furrow in
middle line from xiphoid cartilage to umbilicus, forking above
umbilicus; at bottom of
 


this groove alinear scar.
Protuberant when standing; bulging in flanks in recumbent position; between xiphoid cartilage and umbilicus a number of horizontal folds of skin; a vertical furrow in middle line from xiphoid cartilage to umbilicus, forking above umbilicus; at bottom of this groove alinear scar.


Umbilicus.
Umbilicus.


A vertical
A vertical slit ; beneath it a hard, flat scar
slit ;
beneath
it a hard,
flat scar
 
Not
depressed ;
normal in
 
position ;
had the
appearance of a
surface
scar


Represented by |
Not depressed ; normal in position ; had the appearance of a surface scar
a white
linear cicatrix; at the
bottom of
a furrow;
normal in
position


Linear,
Represented by a white linear cicatrix; at the bottom of a furrow; normal in position
forming a
furrow
about an
inch in
length


A flat
Linear, forming a furrow about an inch in length
depression
the size of
a two-mark
piece, with
a central
scar
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 375


A flat depression the size of a two-mark piece, with a central scar




Abdominal muscles.
Abdominal muscles.
Line 1,525: Line 261:
Bladder.
Bladder.


Kidneys and | Testicles,
Kidneys and Testicles,
 








ureters.
ureters. Electrical examination; recti de-|Bladder could not be — Not developed in their entire length,) made out either by scended. but very imperfectly; fibres of} palpation or by percusboth external obliques present ;} sion. Prepuce easily presence of internal obliques un-| retracted certain; no sign of transversales P.M.—Latissimus dorsi slightly de-/Bladder greatly hyper-| Pelves of Undeveloped; a band of fibres repre-| trophied; abdominalin| kidneys and |scended. sented external oblique; erector| position; at the apexjureters greatly|Both lay spine well developed ; quadratus| of trigone bladder wall; dilated and | in iliac lumborum normal; rudiments of| closely adherent to rec-|hypertrophied ;| fosse, internal oblique; transversalis| tum; no signs of ure-| orifices of quite quite absent; a thin layer of fibres} thral obstruction. Pre-| ureters free; | free represented upper segment of] puce easily retracted.| kidneys large |from the rectus; lower segments wholly) No mention of any at-| and yellowish: | internal wanting, or represented by mere] tachmentofthebladder|white in section] rings. traces of muscular fibres to the umbilicus P.M.—Only thetwo upper segments|Bladder much hypertro-} Kidneys not Not of the recti show any muscular| phied, lying wholly in| enlarged, but | menfibres; the costal margins of| abdominal cavity; its|much inflamed; tioned. the obliqui and_ transversales} apex firmly adherent tojureters dilated showed muscle fibres for about two} the back of the umbili-|to size of small inches below the ribs; such fibres] cal scar; no trace of/ intestine of an reappeared in the iliac regions ;) urachus. No obstruc-| adult; very latissimi dorsi well developed, also| tion of urethra; no, tortuous; erectores spine; quadrati lum-| phimosis orifices free borum rudimentary Attachments of upper segments of/Bladder felt as a firm|No information| Not derecti to costal margin and sternum| ovoid body, reaching| could be jscended; clearly seen. Examination showed] almosttothe umbilicus! obtained not felt that the boy had practically no in abdominal muscles groins. Electrical examination:—Recti pre-|Bladder very large, fusi-| Right kidney | Not desent above the umbilicus. Of the} form; attached to the| movable, jscended; lateral muscles, the transversales| umbilical scar by ajenlarged; left} could gave the best response. Theex-| band as thick as a| kidney very | not be ternal obliques responded, but] pencil, and 3—4 cm. in| small. Left {palpated very feebly ; the internal obliques} length . ureter as large| externgave no response; quadrati lum-| ~ asalamp ally; left borum responded well chimney ; right| testicle ureter of the |lay near size of alittle| the finger internal ring. 376 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS
Electrical examination; recti de-|Bladder could not be — Not developed in their entire length,) made out either by scended.
but very imperfectly; fibres of} palpation or by percusboth external obliques present ;} sion. Prepuce easily
presence of internal obliques un-| retracted
certain; no sign of transversales
P.M.—Latissimus dorsi slightly de-/Bladder greatly hyper-| Pelves of Undeveloped; a band of fibres repre-| trophied; abdominalin| kidneys and |scended.
sented external oblique; erector| position; at the apexjureters greatly|Both lay
spine well developed ; quadratus| of trigone bladder wall; dilated and | in iliac
lumborum normal; rudiments of| closely adherent to rec-|hypertrophied ;| fosse,
internal oblique; transversalis| tum; no signs of ure-| orifices of quite
quite absent; a thin layer of fibres} thral obstruction. Pre-| ureters free; | free
represented upper segment of] puce easily retracted.| kidneys large |from the
rectus; lower segments wholly) No mention of any at-| and yellowish: | internal
wanting, or represented by mere] tachmentofthebladder|white in section] rings.
traces of muscular fibres to the umbilicus
P.M.—Only thetwo upper segments|Bladder much hypertro-} Kidneys not Not
of the recti show any muscular| phied, lying wholly in| enlarged, but | menfibres; the costal margins of| abdominal cavity; its|much inflamed; tioned.
the obliqui and_ transversales} apex firmly adherent tojureters dilated
showed muscle fibres for about two} the back of the umbili-|to size of small
inches below the ribs; such fibres] cal scar; no trace of/ intestine of an
reappeared in the iliac regions ;) urachus. No obstruc-| adult; very
latissimi dorsi well developed, also| tion of urethra; no, tortuous;
erectores spine; quadrati lum-| phimosis orifices free
borum rudimentary
Attachments of upper segments of/Bladder felt as a firm|No information| Not derecti to costal margin and sternum| ovoid body, reaching| could be jscended;
clearly seen. Examination showed] almosttothe umbilicus! obtained not felt
that the boy had practically no in
abdominal muscles groins.
Electrical examination:—Recti pre-|Bladder very large, fusi-| Right kidney | Not desent above the umbilicus. Of the} form; attached to the| movable, jscended;
lateral muscles, the transversales| umbilical scar by ajenlarged; left} could
gave the best response. Theex-| band as thick as a| kidney very | not be
ternal obliques responded, but] pencil, and 3—4 cm. in| small. Left {palpated
very feebly ; the internal obliques} length . ureter as large| externgave no response; quadrati lum-| ~ asalamp ally; left
borum responded well chimney ; right| testicle
ureter of the |lay near
size of alittle| the
finger internal
ring.
376 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS


A comparison of these cases, numbered I to V, and of
A comparison of these cases, numbered I to V, and of our own case, and Dr. Batten’s, which will be referred to as VI and VII respectively, brings out the following points :
our own case, and Dr. Batten’s, which will be referred to
as VI and VII respectively, brings out the following
points :


a. All the patients were of the male sex.
a. All the patients were of the male sex.


g. In none was there any evidence of existing obstruction to the outflow of urine, either from phimosis or any
g. In none was there any evidence of existing obstruction to the outflow of urine, either from phimosis or any blocking of the ureters or urethra.
blocking of the ureters or urethra.
 
. In several cases conspicuous deformity of the thorax
was noted, but the form varied considerably. In several
cases there was a tilting of the sternum forwards and upwards, III, IV, VI, VII.
 
§. Furrowing of the skin of the abdomen was noted in
several cases. In some it was very conspicuous, III, VI,
VII, in others comparatively trifling, IV, V.
 
z. In all the umbilicus resembled a scar, and was in
most cases linear, I, III, 1V, VI.
 
c. In all there was a conspicuous lack of development
of the abdominal muscles, but in none were all traces
absent. The upper segments of the recti were more or
less fully represented in almost every instance.


n. In all cases except I the bladder lay wholly in the
. In several cases conspicuous deformity of the thorax was noted, but the form varied considerably. In several cases there was a tilting of the sternum forwards and upwards, III, IV, VI, VII.
abdomen in the fcetal position. In Case I there was no
evidence of its presence there, but the umbilicus was linear
and scar-like.


@. In all cases in which the poimt could be verified,
§. Furrowing of the skin of the abdomen was noted in several cases. In some it was very conspicuous, III, VI, VII, in others comparatively trifling, IV, V.
except Cases I and II, the bladder was attached to the
umbilicus either directly or by a urachus.


1. In Cases II, III, and V there was conspicuous dilatation of the ureters. In VI there was only very slight
z. In all the umbilicus resembled a scar, and was in most cases linear, I, III, 1V, VI.
dilatation of the lower part of one ureter. In the other
cases no information on this point could be obtained.


x. In Cases V and VI there was conspicuous inequality
c. In all there was a conspicuous lack of development of the abdominal muscles, but in none were all traces absent. The upper segments of the recti were more or less fully represented in almost every instance.
of the sizes of the two kidneys.


\. In all cases (except III, in connection with which
n. In all cases except I the bladder lay wholly in the abdomen in the fcetal position. In Case I there was no evidence of its presence there, but the umbilicus was linear and scar-like.
the testicles are not mentioned) the testicles had not de
scended.
The chief points in which our case differed from the
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 377


rest is in the absence of any noteworthy dilatation of the
@. In all cases in which the poimt could be verified, except Cases I and II, the bladder was attached to the umbilicus either directly or by a urachus.
ureters, and in the presence of other malformations, such
as talipes varus. .


Let us now pass on to consider briefly the relationship
1. In Cases II, III, and V there was conspicuous dilatation of the ureters. In VI there was only very slight dilatation of the lower part of one ureter. In the other cases no information on this point could be obtained.
to each other of the several abnormalities which these
cases present.


Dr. Bardeen, to whom Professor Osler referred the
x. In Cases V and VI there was conspicuous inequality of the sizes of the two kidneys.
problem, and who is entitled to speak with special
authority on the development of muscular structures,
suggested two possible explanations, which may be quoted
in his own words:


“1. It is possible that the lack of resistance normally
\. In all cases (except III, in connection with which the testicles are not mentioned) the testicles had not de scended. The chief points in which our case differed from the  rest is in the absence of any noteworthy dilatation of the ureters, and in the presence of other malformations, such as talipes varus.
met with in the abdominal wall by the bladder, at the
time when the kidneys begin to secrete urine, may cause
the bladder to expand rather than to empty secretions
into the amniotic cavity through the urethra.


“©2. Under normal conditions the growth of the abdominal musculature into the membrana rewniens, the early
Let us now pass on to consider briefly the relationship to each other of the several abnormalities which these cases present.
covering of the abdominal cavity, is preceded by the formation of a vascular plexus, supplied from above from the
internal mammary, from below by the epigastric artery.
It is possible that an abnormal arrangement of the bloodvessels in the embryo prevented the formation of this
plexus, and impeded the growth of the abdominal musculature, and that, at the same time, circulatory disturbances gave rise to the abnormal conditions found in the
bladder and ureters.”


Besides the possibilities here suggested, viz. that the
Dr. Bardeen, to whom Professor Osler referred the problem, and who is entitled to speak with special authority on the development of muscular structures, suggested two possible explanations, which may be quoted in his own words:
bladder condition is secondary to the muscular, or that
both result from a common cause, there is a third possible
explanation which is favoured by Stumme.


Stumme, after discussing fully the embryological
“1. It is possible that the lack of resistance normally met with in the abdominal wall by the bladder, at the time when the kidneys begin to secrete urine, may cause the bladder to expand rather than to empty secretions into the amniotic cavity through the urethra.
questions involved, summarises his conclusions in a
passage, of which the following is a translation :


“ As the result of an occlusion of the urethra, occurring
“©2. Under normal conditions the growth of the abdominal musculature into the membrana rewniens, the early covering of the abdominal cavity, is preceded by the formation of a vascular plexus, supplied from above from the internal mammary, from below by the epigastric artery. It is possible that an abnormal arrangement of the bloodvessels in the embryo prevented the formation of this plexus, and impeded the growth of the abdominal musculature, and that, at the same time, circulatory disturbances gave rise to the abnormal conditions found in the bladder and ureters.”
at a comparatively late period of embryonic life, retention
of urine occurred, to which the bladder, and afterwards
the ureters, responded by hypertrophy and dilatation.
378 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS


By pressure of the much dilated bladder atrophy of the
Besides the possibilities here suggested, viz. that the bladder condition is secondary to the muscular, or that both result from a common cause, there is a third possible explanation which is favoured by Stumme.
greater part of the rectus abdominis, or at least of the
entire sub-umbilical portion of that muscle, was brought
about; again the stretching, aided by pressure from the
dilated ureters, led to a similar symmetrical atrophy of
the lateral muscles of the abdominal wall.


“The enlargement of the bladder led to fusion of its
Stumme, after discussing fully the embryological questions involved, summarises his conclusions in a passage, of which the following is a translation :
vertex with the umbilicus, and later to the formation of a
urachus. Moreover, by pressure upon the umbilical
vessels, it caused a diminution of the blood-supply on the
one hand, resulting in deficient nutrition of the embryo;
and, on the other hand, by interfering with the return of
blood from the embryo, it rendered possible the development ‘of ascites, and a resulting further increase of the
abdominal extension. Lastly by obstructing the entry to
the inguinal canal, it hindered the entry of the testicle
into the processus vaginalis, and its descent into the
scrotum. :


“Later on the cause of the retention of urine disappeared. The abdominal walls, which had been stretched
“ As the result of an occlusion of the urethra, occurring at a comparatively late period of embryonic life, retention of urine occurred, to which the bladder, and afterwards the ureters, responded by hypertrophy and dilatation. 378 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS
to a greater or less extent, became thrown into folds and
contracted, owing to the increase of amniotic fluid which
resulted from the outflow of urine into it. The bladder
also shrank, but was unable to sink down into the lesser
pelvic cavity, on account of its being fixed to the umbilicus, and of the altered conditions in the pelvic flood.”


We are inclined to accept the view, here put forward,
By pressure of the much dilated bladder atrophy of the greater part of the rectus abdominis, or at least of the entire sub-umbilical portion of that muscle, was brought about; again the stretching, aided by pressure from the dilated ureters, led to a similar symmetrical atrophy of the lateral muscles of the abdominal wall.
that the condition of the abdominal musculature is
secondary to dilatation of the bladder, and for the
following reasons :


The appearance of the abdomen in such cases suggests
“The enlargement of the bladder led to fusion of its vertex with the umbilicus, and later to the formation of a urachus. Moreover, by pressure upon the umbilical vessels, it caused a diminution of the blood-supply on the one hand, resulting in deficient nutrition of the embryo; and, on the other hand, by interfering with the return of blood from the embryo, it rendered possible the development ‘of ascites, and a resulting further increase of the abdominal extension. Lastly by obstructing the entry to the inguinal canal, it hindered the entry of the testicle into the processus vaginalis, and its descent into the scrotum. :
that at some period it has been greatly distended by
pressure from within, and the linear cicatrices at the
bottom of the deep cutaneous furrows, observed in some
cases, may have resulted from splitting of the deeper
layers of the much stretched skin. On the other hand
there can be no doubt that any such distension had already
disappeared before the patients were born, for in more
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 3879


than one case the abdomen was said to have appeared
“Later on the cause of the retention of urine disappeared. The abdominal walls, which had been stretched to a greater or less extent, became thrown into folds and contracted, owing to the increase of amniotic fluid which resulted from the outflow of urine into it. The bladder also shrank, but was unable to sink down into the lesser pelvic cavity, on account of its being fixed to the umbilicus, and of the altered conditions in the pelvic flood.”
peculiarly flattened at the time of birth.


It is noteworthy that in no instance were the abdominal
We are inclined to accept the view, here put forward, that the condition of the abdominal musculature is secondary to dilatation of the bladder, and for the following reasons :
muscles completely absent, and in the case of the recti
the defect of the lower segments was much more pronounced
than that of the upper. This strongly suggests that the
development of the muscles was not primarily at fault,
but that either their development was interfered with by
pressure from within the abdomen or that the muscles
had originally been formed in the normal manner, but
had undergone atrophy from a similar cause. That such
atrophy was due to a poliomyelitis can hardly be supposed in the light of Dr. Batten’s report on the spinal
cord of our patient, and the very careful dissection
carried out in Guthrie’s case showed that the muscles
were comparatively well developed near their peripheral
attachment, whereas the central and anterior portions
were much more defective. This is Just what might be
expected if their condition were due to the pressure from
within exerted by a central viscus, such as a distended
bladder. However, as we have seen, Dr. Batten considers
that the microscopical appearance of the rudiments of
muscles present in the abdominal wall suggest a failure of
development rather than an atrophy.


The temporary obstruction during intra-uterine life,
The appearance of the abdomen in such cases suggests that at some period it has been greatly distended by pressure from within, and the linear cicatrices at the bottom of the deep cutaneous furrows, observed in some cases, may have resulted from splitting of the deeper layers of the much stretched skin. On the other hand there can be no doubt that any such distension had already disappeared before the patients were born, for in more than one case the abdomen was said to have appeared peculiarly flattened at the time of birth.
which Stumme’s theory involves, is not very easy to
explain, and it must be remembered that in no instance
was any condition observed which would account for
urethral obstruction, not even a tight prepuce.


The fact that all the patients have been males tempts
It is noteworthy that in no instance were the abdominal muscles completely absent, and in the case of the recti the defect of the lower segments was much more pronounced than that of the upper. This strongly suggests that the development of the muscles was not primarily at fault, but that either their development was interfered with by pressure from within the abdomen or that the muscles had originally been formed in the normal manner, but had undergone atrophy from a similar cause. That such atrophy was due to a poliomyelitis can hardly be supposed in the light of Dr. Batten’s report on the spinal cord of our patient, and the very careful dissection carried out in Guthrie’s case showed that the muscles were comparatively well developed near their peripheral attachment, whereas the central and anterior portions were much more defective. This is Just what might be expected if their condition were due to the pressure from within exerted by a central viscus, such as a distended bladder. However, as we have seen, Dr. Batten considers that the microscopical appearance of the rudiments of muscles present in the abdominal wall suggest a failure of development rather than an atrophy.
one to ascribe the obstruction to some kinking or constriction of the penile urethra, but as Stumme points out,
there is another possible explanation. In his case a
cystoscopic examination, made before the laparotomy at
which the apex of the bladder was freed from the umbilicus, showed a deep fold in the anterior wall of the
bladder and a displacement of the orifices of the ureters,
which lay obliquely and almost in a line with each other ;


VOL. LXXXVIII. 26
The temporary obstruction during intra-uterine life, which Stumme’s theory involves, is not very easy to explain, and it must be remembered that in no instance was any condition observed which would account for urethral obstruction, not even a tight prepuce.
380 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS


after the operation the anterior fold had disappeared, and
The fact that all the patients have been males tempts one to ascribe the obstruction to some kinking or constriction of the penile urethra, but as Stumme points out, there is another possible explanation. In his case a cystoscopic examination, made before the laparotomy at which the apex of the bladder was freed from the umbilicus, showed a deep fold in the anterior wall of the bladder and a displacement of the orifices of the ureters, which lay obliquely and almost in a line with each other ; after the operation the anterior fold had disappeared, and the orifices of the ureters had assumed their normal relations. He therefore suggests that the tugging of the urachus may have caused some obstruction of the intramural portions of the ureters, and of the vesical orifice of the urethra also. However, as Stumme points out, this necessitates an attachment of the upper pole of the bladder to the umbilicus as the prime factor, whereas such attachment has not been shown to be present in all cases.
the orifices of the ureters had assumed their normal
relations. He therefore suggests that the tugging of the
urachus may have caused some obstruction of the intramural portions of the ureters, and of the vesical orifice of
the urethra also. However, as Stumme points out, this
necessitates an attachment of the upper pole of the bladder
to the umbilicus as the prime factor, whereas such attachment has not been shown to be present in all cases.


Stumme is inclined to agree with Guthrie in attributing
Stumme is inclined to agree with Guthrie in attributing the abnormality of the umbilicus to the drag of the distended bladder upon it, but it is noteworthy that in Platt’s case, in which no evidence of abnormal situation or size of the bladder was forthcoming, and in Parker’s case, in which no attachment of the bladder to the umbilicus is mentioned in the report of the autopsy, similar abnormalities of the navel were observed.
the abnormality of the umbilicus to the drag of the distended bladder upon it, but it is noteworthy that in
Platt’s case, in which no evidence of abnormal situation
or size of the bladder was forthcoming, and in Parker’s
case, in which no attachment of the bladder to the
umbilicus is mentioned in the report of the autopsy,
similar abnormalities of the navel were observed.


The condition of the thorax in our case, and the similar
The condition of the thorax in our case, and the similar deformities observed in other cases, seems to be sufficiently explained by the want of the anchorage which under ordinary circumstances is supplied by the abdominal muscles.
deformities observed in other cases, seems to be sufficiently
explained by the want of the anchorage which under
ordinary circumstances is supplied by the abdominal
muscles.


REFERENCES.
==References==


1. E.G. Stummz.—Ueber die Symmetrischen kongenitalen Bauchmuskeldefekte und iiber die Kombination
1. E.G. Stummz. — Ueber die Symmetrischen kongenitalen Bauchmuskeldefekte und iiber die Kombination derselben mit anderen Bildungsanomalien des Rumpfes. Mitteilungen aus den Grenzgebieten der Medizin und Chirurgie, x1, 548, 1903.
derselben mit anderen Bildungsanomalien des Rumpfes.
Mitteilungen aus den Grenzgebieten der Medizin und
Chirurgie, x1, 548, 1903. |


2. FrouLtico.—Der Mangel der Muskeln inbesondere der
2. FrouLtico. — Der Mangel der Muskeln inbesondere der Seitenbauchmuskeln. Dissertation, Wurzburg, 1839.
Seitenbauchmuskeln. Dissertation, Wurzburg, 1839.


3. F. A. von Ammon.—Die angeborenen chirurgischen
3. F. A. von Ammon. — Die angeborenen chirurgischen Krankheiten des Menschen, 1842, p. 59.
Krankheiten des Menschen, 1842, p. 59.


4. B. Henprerson.—Congenital Absence of Abdominal
4. B. Henprerson. — Congenital Absence of Abdominal Muscles. Glasgow Medical Journal, xxxin, p. 63, 1890.
Muscles. Glasgow Medical Journal, xxxin, p. 63, 1890.


5. W. B. Prarr.—A rare case of Deficiency of the
5. W. B. Prarr. — A rare case of Deficiency of the Abdominal Muscles. Philadelphia Medical Journal, 1, 738, 1898.
Abdominal Muscles. Philadelphia Medical Journal, 1,
738, 1898.
GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 381


6. R. W. Parxer.—Case of an Infant in whom some of
6. R. W. Parxer. — Case of an Infant in whom some of the Abdominal muscles were absent. Transactions of the Clinical Society of London, xxvin, 201, 1895.
the Abdominal muscles were absent. Transactions of the
Clinical Society of London, xxvin, 201, 1895.


7. L. Gurarie.—Case of Congenital deficiency of the
7. L. Gurarie. — Case of Congenital deficiency of the Abdominal Muscles. Transactions of the Pathological Society of London, xlvu, 189, 1896.
Abdominal Muscles. Transactions of the Pathological
Society of London, xlvu, 189, 1896.


8. W. Oster.—Congenital Absence of the Abdominal
8. W. Oster. — Congenital Absence of the Abdominal Muscles with Distended and MHypertrophied Urinary Bladder. Johns Hopkins Hospital Bulletin, xii, 331, 1901.
Muscles with Distended and MHypertrophied Urinary
Bladder. Johns Hopkins Hospital Bulletin, xii, 331,
1901.


==Discussion==
==Discussion==

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Garrod AE. and Davies LW. On a group of associated congenital malformations: Including almost complete absence of the muscles of the abdominal wall, and abnormalities of the genito-urinary apparatus. (1905) Med Chir Trans. 88: 363-82. PMID 20897039

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This paper by Garrod and Davies describes a series of abnormalities of the trunk.



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On a Group of Associated Congenital Malformations

Including almost complete absence of the Muscles of the Abdominal Wall, and abnormalities of the Genito-urinary Apparatus

By

Archibald E. Garrod, M.D.

And

Liu. Wynne Davies, M.D.

Received January 5th—Read February 14th, 1905

Introduction

The co-existence of several distinct congenital deformities in the same individual is common enough, but the case which forms the subject of this communication offers an example of a group of malformations which may lay claim to a special interest.


Congenital non-development of the muscles of the abdominal wall is itself a sufficiently rare abnormality, and when met with it is wont to be associated with such structural defects of the genito-urinary organs as were present in this instance. ‘The association is clearly no fortuitous one, and a study of the few recorded examples, some of which have been observed in this country, leaves no doubt in the mind that either the several items of the malformation-complex are dependent upon a common cause, or that, as is far more probable, some are primary and others are secondary to these.


The recorded cases have been collected together, and the whole subject has been discussed in a masterly manner by HK. G. Stumme (1) in a monograph which was published in 19038, but the examples are still so few that further records are called for, and Dr. F. EK. Batten’s report on the condition of the spinal cord of our patient fills in a gap in our knowledge to which Stumme refers with regret.


G. K—, a male infant, aged 8 weeks, was admitted to the Hospital for Sick Children, Great Ormond Street, on May 27th, 1903.

A. bulging forward of the chest wall and a sinking in of the abdomen were noticed immediately after the infant’s birth, and a few days later the abdomen began to enlarge, whilst the protrusion of the sternum persisted.

The patient, the youngest of a family of three, was born at full term. The eldest child died with convulsions at the age of fifteen months, the second was alive and in good health.


On admission the infant was well nourished, the mouth was conspicuously large, and there was some asymmetry of the lower jaw. The pinne of the ears were abnormally large, and the nose was rather flattened. The palpebral fissures were somewhat oblique. ‘There was some asymmetry of the skull, with prominence of the right frontal and parietal eminences.

The thorax was obviously asymmetrical. The sternum protruded, and was tilted forwards and upwards, a pecuharity which has been observed in other cases of the kind, and which results from the lack of anchorage by the recti and other abdominal muscles.

The circumference at the level of the nipples was thirteen and a half inches, and there was an expansion of Photograph (taken after death) of the infant G. K—, showing the furrows in the abdominal wali and the deformity of the thorax.


only a quarter of an inch on inspiration. The pectoral muscles were well developed, as also were the muscles of the back of the thorax.

Physical examination of the chest revealed nothing abnormal save that a soft systolic murmur was heard in the first and second intercostal spaces to the left of the sternum.

The appearance of the abdomen was very remarkable, and exactly recalled that seen in Guthrie’s case, presently to be referred to.

The abdomen was large, flabby, and bulged in the flanks. Its surface was deeply scored by a number of longitudinal furrows, nine of which could be counted. A deep central furrow extended from the tip of the ensiform cartilage to the pubes, and in it was included the umbilicus which, as in other cases of the kind, was represented by a mere linear scar. A second deep furrow, running immediately to the right of the central one, formed a V by uniting with it below the umbilical scar. When the sides of the furrows were held apart lines of cicatricial tissue were exposed, and the grooves could not be permanently smoothed out. Besides the longitudinal furrows there were a few short and almost horizontal ones.

The distance from the tip of the ensiform cartilage to the pubes was five and a half inches, and the girth, at the level of the umbilicus, was fifteen and a half inches.

There appeared to be no muscular substance, capable of contraction, in the abdominal wall. The walls acquired no firmness when the child cried, and passing backwards the first developed muscle which could be felt was the erector spine. Moreover there was no response to Faradic or galvanic stimulation in the regions which were apparently devoid of muscular coating.

In either flank the contours of coils of intestine were plainly visible. During life there was some doubt whether these coils might not have been distended and tortuous ureters, as in Guthrie’s case.

The liver could be plainly felt, lying in the right hypoGROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 367

chondrium, and with its lower border three fingers’ breadths below the costal margin.

The left kidney, also, was readily palpable, but the right kidney could not be felt during life.

The spleen descended to one finger’s breadth below the costal border, and was smooth. Neither testicle was descended, but that on the right could be made out by palpation, lying just below the region of the kidney.

The contour of the transverse colon could be seen crossing the abdomen just above the umbilicus, and the stomach, when full, stood out prominently, and measured three and a half to four inches in its long, and two inches in its transverse axis.

When the bladder was full its outlines could be clearly mapped out. It reached upwards to within a finger’s breadth of the umbilicus, to which it appeared to be anchored by its upper pole. It was distinctly spindleshaped.

The very easy palpability of the several abdominal viscera was due to the absence of any resistance from the abdominal walls.

Per rectwm.—When once the sphincter ani was passed the bowel proved to be fairly capacious. The bladder was easily palpable, as an abdominal viscus, and could be felt to contract when distended with urine. No dilatation of the ureters could be felt by the examining finger. The testes were palpable, lying below the lower poles of the kidneys.

There was double talipes varus.

The urine was of low specific gravity, was turbid, alkaline in reaction, and had an ammoniacal odour. The motions were greenish and contained undigested curd.

The child was discharged from the hospital on June 10th, but was readmitted on August 4th with a temperature of 101° F. In the lungs were small scattered patches of broncho-pneumonia.

On August 5th the temperature rose to 103° F., and a bright red area of inflammation was observed, which extended in front from the root of the neck up to the face, and was bounded by a brighter red line, which ran parallel with the alveolar process of the upper jaw.

The erysipelatous blush persisted, and the child died on August 13th. The photograph was taken after death.

The report of the post-mortem examination, which was carried out by Dr. E. P. Baumann, is as follows :

Length of body 224 inches, weight 74 pounds.

Abdomen. — The anterior abdominal wall was soft and flabby, and through it the viscera could be palpated. On dissecting away the skin, which was in most places unduly adherent to the underlying fascia, there was found to be a general failure of development of the muscles of the anterior abdominal wall. There were seen in the fascia, here and there, pinkish strands, which probably represented the remains of the obliqui, transversales, and recti1 muscles. Posteriorly the erectores spine appeared to be normally developed, whereas the quadrati lumborum were represented by thin imperfect sheets of musclefibres. |

The muscles of the perineum appeared to be normally developed. The diaphragm, intercostals (external and internal), the pectorales, and other thoracic muscles were also macroscopically normal. There was a boss over the right parietal bone, which was found, on removing the calvarium, to be an outward dent of the bone without any thickening.

The bladder was enlarged and thick-walled; it extended up into the abdomen, and from its apex a urachus, of the size of a thin lead pencil, extended to the umbilicus.

Both testicles lay loose in the pelvis. The right kidney was very small, of about the size of a large bean. The corresponding ureter appeared normal. The left kidney was perhaps rather larger than is usual in a child of four months. Its ureter was of normal size above, but in the lower half became dilated to the size of a small pencil. There was otherwise no marked enlargement and no tortuosity of the ureters.


The capsule of the spleen was white and opaque, but on section the organ was natural. The capsule of the hver was also thickened and unduly adherent. The liver was hard, and its appearance suggested interstitial change.

Intestines natural; some congestion of mesenteric glands.

Thorax.—Nothing abnormal was found in the heart. The lungs showed changes associated with bronchitis. The bronchial glands were not enlarged.

Crantum.—The brain and membranes appeared natural.

Spinal cord. — No macroscopic changes.

We are greatly indebted to Dr. F. E. Batten, who was good enough to examine the spinal cord and the rudiments of muscular substance in the abdominal wall, and who has furnished us with the following report :

“To the naked eye the spinal cord and nerve-roots appeared normal. On section of the cord at various levels the diameter was equal to that of a normal cord from a child of the same age, with which it was compared.

“Qn microscopical examination no group of cells could be seen to be absent or diminished in number or size.

“The number of cells in the anterior horns of five consecutive sections at each level of the thoracic region were counted.

“The difficulty of counting cells is known to all who have undertaken such work. ‘The personal factor plays an important part in such counts. The two counts were made at the same time and under similar conditions of light and stainmg. Drawings of several sections were made under the Zeiss projection apparatus.

“The following table gives the relative numbers of cells in five consecutive sections, at various levels, compared with those in the spinal cord of another child, of the same age, which showed no morbid changes. Spinal cord of normal child. Spinal cord of G. K.

Large Small Total. Large Small Total.

cells. cells. cells. cells. 1st thoracic segment... 72 ... 31 ... 103 59... 7O ... 129 2nd » ” 338... 19 =... 52 46... 29... 75 3rd » » 35... 380. ... 65 33... 41 =... | «74 4th » » 29- ... 36... 65 47... 84... 81 5th » » 41... 42... 88 49... 41 ... 90 6th % » 33... «8340... 78 55... «29... = 84 7th » » o3... 37... 90 36... 51... = §687 8th ” » 26... 21... AT 32... 51... 83 9th ” » 385... 28 ... 68 40... 41... 81 10th i, ” 44... 84 ... 78 31... 61 ... 92 1lith » » 36... 32... 68 21. ... lll... 132 12th » ” 51... 48 = ... 94 15... 1038... +118

488 393 464 662

“The number of large cells is approximately the same in the two counts. The number of small cells is larger in the case in which the abdominal muscles were absent.”

These observations clearly lend no support to the idea that the condition of the abdominal muscles in such cases may be due to a poliomyelitis occurring during intrauterine life.

On the scantily distributed and rudimentary musclefibres in the abdominal walls Dr. F. E. Batten reports as follows :

“Sections were made of the entire thickness of the abdominal wall, the sections being cut in a horizontal direction. ‘lhey were stained by van Giessen’s method. Specimens were also prepared from a normal child for comparison with them, and these were cut in the same way, and stained by the same method.

“The total thickness of the abdominal wall from skin surface to peritoneum is as great in the abnormal as in the normal specimens.

“In the abnormal child rather more than two-thirds of the entire thickness of the abdominal wall is occupied by the epidermis, cutis, and subcutaneous tissue. The glandular elements in the skin are greatly in excess of the normal, and the true skin is of three times the normal thickness.


“The subcutaneous tissue also is greatly in excess, and is composed of a considerable layer of fat and connective tissue, which is not present in the specimens from the normal child.”

“The ‘muscular layer,’ instead of forming about twothirds of the total thickness of the wall as in the normal child, occupies but one-third of the total thickness. Small bundles of what appear to be undeveloped musclefibres are seen in this region in transverse section, and in close proximity to these some fibres cut in a horizontal direction.

“The fibres of this layer are irregularly arranged, for there are two sets of fibres cut in a transverse direction, the superposed being considerably thicker than the deeper layer, and between these a thin layer of fibres cut longitudinally.

“Except for the shape of the bundles and the arrangement of the fibres it is quite impossible to identify them as muscle-fibres, as they have neither the shape nor the striation of the normal muscle-fibres. The nuclei are elongated and rod-shaped, and, as far as can be ascertained, occupy the centres of the fibres.

“The fibres of the aponeuroses of the muscles, which form a very striking feature in the normal sections, are almost entirely absent in the sections of the abnormal muscles. In appearance the muscular fibres resemble unstriped muscle-fibres, or fibres in the early stage of development, and it would appear that arrest of development had occurred in the abdominal muscles at an early stage of their foetal hfe. There is nothing to suggest that atrophy of a normally developed muscle has taken place.

“The fact that no alteration can be found in the spinal cord is only in accordance with our present pathological knowledge of the condition of the nerve centres in cases of primary muscular atrophy.”

Of the malformations which were present in this case the following constituted the group of deformities which calls for special consideration :

1. The almost complete defect of the muscles of the abdominal wall, the recti, obliqui, and tranversales, and the very imperfect development of the quadrati lumborum.

2. The foetal situation of the urinary bladder, its fusiform shape, hypertrophy and attachment to the umbilical scar by a short urachus. _

3. The linear scar-like umbilicus.

4. The imperfect development of the right kidney.

5. The undescended testicles.

6. The carinated thorax and tilted sternum.

The remaining deformities, viz. :

7. The double talipes varus ;

8. The asymmetry of the skull; and

9. The abnormal size of the pinne of the ears ; may be looked upon as mere concomitant malformations, having no obvious connection with those of the first group.

Before proceeding to speak of similar cases, of which accounts have been published, we have Dr. F. EH. Batten’s permission to refer to a case recently under his care as an out-patient at the Hospital for Sick Children, which one of us had an opportunity of examining.


This patient also was a male child, born at full term. At birth the anterior wall of the abdomen appeared ‘‘ plastered down ”’ to the spine, and the thorax was drawn upwards and tilted forwards. When seen, at the age of nine months, the appearance of the abdomen closely resembled that observed in our patient. The skin showed similar grooves and furrows, and no trace of functionally active muscles in the abdominal wall could be made out. The abdominal viscera were easily palpable, including the bladder, which occupied the foetal position and appeared to be attached by a urachus to the umbilical scar.


The child afterwards died at its home of some intercurrent disease, and no post-mortem examination was made. The case obviously belonged to the same group as that which we have described and others presently to be referred to.

Stumme has collected seven cases from the literature in which there was a failure of development of the abdominal muscles, and adds to these an eighth observed by himself. Five of these cases resemble those which we have described more or less closely, whereas in the three remaining cases the resemblance is much less striking, and the published accounts of some of them are very brief. We have not been able to find any cases to add to Stumme’s list, nor do we know of any recorded since his paper appeared.

Three of the cases may be dismissed in a few words.

In 1839 Frohlich (2), in a thesis which has not been accessible to us, described a male child who presented a defect of the lateral abdominal muscles and a condition of pigeon-breast. However, the recti abdominis were developed, and, as the condition of the bladder is not mentioned, even in the account of the post-mortem examination, we may conclude that it was normal. The testicles, moreover, lay in the scrotum.


In a case described by F. A. von Ammon (83) in 1842 there was a defect of the lower segment of the recti and of other muscles of the lower part of the abdominal wall. The patient was a male child. The bladder is not mentioned. The defective muscles are stated to have become developed at about the time of puberty.


In 1890 B. Henderson (4) recorded the case of a man, aged 60, who had a similar defect of the abdominal muscles, including the lower segments of the recti. The testicles were not descended, but there is no mention, in the brief account of the case, of any abnormality of the urinary bladder.


The main features of the remaining five cases we have arranged in tabular form, which is best calculated to bring out the points of resemblance in and differences between them.


Name of observer.

I. W. iB. Platt (5), 1898. (As we have been unable to consult the original paper the details are given from Stumme’s abstract)

II. R. W. Parker (6), 1895. Fatal case.

Post-mortem examination

III. L. Guthrie (7), 1896. Fatal case. Post-mortem examination.

IV. W. Osler (8), 1901

Vv.

E.G. Stumme (1), 1903. Laparotomy ; vertex of bladder was freed, and the dilated left ureter

was connected with the bladder


patient. Age. Shape of chest. Male| 2 Not stated, but years| shown in the figures to be deformed Male |Newly; Thoracic cavity born | small Male; 9 Pigeon-breast, weeks} and costal arch unusually wide Male| 6 years| well marked; lower part of sternum thrust forward, almost at a right angle with the xiphoid cartilage Male| 17 | Broad and very years| flat; sternum

depressed at level of sixth rib, and coming forward again at xiphoid cartilage

Appearance of abdomen.

Skin doughy and irregular; horizontal furrows

seen in the pictures

Large and very flaccid ; skin over it wrinkled and inelastic; outline of coils of intestine

clearly seen

Flaccid, bulging laterally ; deep vertical furrows of skin, which could not be smoothed out; what appeared to be coils of intestine, but were really coils of ureter, seen in both flanks

Harrison’s sulcus|Flattened out, bulging

in flanks in recumbent position ; coils of intestine seen in peristalsis ; furrows of skin,“ crows’ feet,” below the um_bilicus

Protuberant when standing; bulging in flanks in recumbent position; between xiphoid cartilage and umbilicus a number of horizontal folds of skin; a vertical furrow in middle line from xiphoid cartilage to umbilicus, forking above umbilicus; at bottom of this groove alinear scar.

Umbilicus.

A vertical slit ; beneath it a hard, flat scar

Not depressed ; normal in position ; had the appearance of a surface scar

Represented by a white linear cicatrix; at the bottom of a furrow; normal in position

Linear, forming a furrow about an inch in length

A flat depression the size of a two-mark piece, with a central scar


Abdominal muscles.

Bladder.

Kidneys and Testicles,



ureters. Electrical examination; recti de-|Bladder could not be — Not developed in their entire length,) made out either by scended. but very imperfectly; fibres of} palpation or by percusboth external obliques present ;} sion. Prepuce easily presence of internal obliques un-| retracted certain; no sign of transversales P.M.—Latissimus dorsi slightly de-/Bladder greatly hyper-| Pelves of Undeveloped; a band of fibres repre-| trophied; abdominalin| kidneys and |scended. sented external oblique; erector| position; at the apexjureters greatly|Both lay spine well developed ; quadratus| of trigone bladder wall; dilated and | in iliac lumborum normal; rudiments of| closely adherent to rec-|hypertrophied ;| fosse, internal oblique; transversalis| tum; no signs of ure-| orifices of quite quite absent; a thin layer of fibres} thral obstruction. Pre-| ureters free; | free represented upper segment of] puce easily retracted.| kidneys large |from the rectus; lower segments wholly) No mention of any at-| and yellowish: | internal wanting, or represented by mere] tachmentofthebladder|white in section] rings. traces of muscular fibres to the umbilicus P.M.—Only thetwo upper segments|Bladder much hypertro-} Kidneys not Not of the recti show any muscular| phied, lying wholly in| enlarged, but | menfibres; the costal margins of| abdominal cavity; its|much inflamed; tioned. the obliqui and_ transversales} apex firmly adherent tojureters dilated showed muscle fibres for about two} the back of the umbili-|to size of small inches below the ribs; such fibres] cal scar; no trace of/ intestine of an reappeared in the iliac regions ;) urachus. No obstruc-| adult; very latissimi dorsi well developed, also| tion of urethra; no, tortuous; erectores spine; quadrati lum-| phimosis orifices free borum rudimentary Attachments of upper segments of/Bladder felt as a firm|No information| Not derecti to costal margin and sternum| ovoid body, reaching| could be jscended; clearly seen. Examination showed] almosttothe umbilicus! obtained not felt that the boy had practically no in abdominal muscles groins. Electrical examination:—Recti pre-|Bladder very large, fusi-| Right kidney | Not desent above the umbilicus. Of the} form; attached to the| movable, jscended; lateral muscles, the transversales| umbilical scar by ajenlarged; left} could gave the best response. Theex-| band as thick as a| kidney very | not be ternal obliques responded, but] pencil, and 3—4 cm. in| small. Left {palpated very feebly ; the internal obliques} length . ureter as large| externgave no response; quadrati lum-| ~ asalamp ally; left borum responded well chimney ; right| testicle ureter of the |lay near size of alittle| the finger internal ring. 376 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS

A comparison of these cases, numbered I to V, and of our own case, and Dr. Batten’s, which will be referred to as VI and VII respectively, brings out the following points :

a. All the patients were of the male sex.

g. In none was there any evidence of existing obstruction to the outflow of urine, either from phimosis or any blocking of the ureters or urethra.

. In several cases conspicuous deformity of the thorax was noted, but the form varied considerably. In several cases there was a tilting of the sternum forwards and upwards, III, IV, VI, VII.

§. Furrowing of the skin of the abdomen was noted in several cases. In some it was very conspicuous, III, VI, VII, in others comparatively trifling, IV, V.

z. In all the umbilicus resembled a scar, and was in most cases linear, I, III, 1V, VI.

c. In all there was a conspicuous lack of development of the abdominal muscles, but in none were all traces absent. The upper segments of the recti were more or less fully represented in almost every instance.

n. In all cases except I the bladder lay wholly in the abdomen in the fcetal position. In Case I there was no evidence of its presence there, but the umbilicus was linear and scar-like.

@. In all cases in which the poimt could be verified, except Cases I and II, the bladder was attached to the umbilicus either directly or by a urachus.

1. In Cases II, III, and V there was conspicuous dilatation of the ureters. In VI there was only very slight dilatation of the lower part of one ureter. In the other cases no information on this point could be obtained.

x. In Cases V and VI there was conspicuous inequality of the sizes of the two kidneys.

\. In all cases (except III, in connection with which the testicles are not mentioned) the testicles had not de scended. The chief points in which our case differed from the rest is in the absence of any noteworthy dilatation of the ureters, and in the presence of other malformations, such as talipes varus.

Let us now pass on to consider briefly the relationship to each other of the several abnormalities which these cases present.

Dr. Bardeen, to whom Professor Osler referred the problem, and who is entitled to speak with special authority on the development of muscular structures, suggested two possible explanations, which may be quoted in his own words:

“1. It is possible that the lack of resistance normally met with in the abdominal wall by the bladder, at the time when the kidneys begin to secrete urine, may cause the bladder to expand rather than to empty secretions into the amniotic cavity through the urethra.

“©2. Under normal conditions the growth of the abdominal musculature into the membrana rewniens, the early covering of the abdominal cavity, is preceded by the formation of a vascular plexus, supplied from above from the internal mammary, from below by the epigastric artery. It is possible that an abnormal arrangement of the bloodvessels in the embryo prevented the formation of this plexus, and impeded the growth of the abdominal musculature, and that, at the same time, circulatory disturbances gave rise to the abnormal conditions found in the bladder and ureters.”

Besides the possibilities here suggested, viz. that the bladder condition is secondary to the muscular, or that both result from a common cause, there is a third possible explanation which is favoured by Stumme.

Stumme, after discussing fully the embryological questions involved, summarises his conclusions in a passage, of which the following is a translation :

“ As the result of an occlusion of the urethra, occurring at a comparatively late period of embryonic life, retention of urine occurred, to which the bladder, and afterwards the ureters, responded by hypertrophy and dilatation. 378 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS

By pressure of the much dilated bladder atrophy of the greater part of the rectus abdominis, or at least of the entire sub-umbilical portion of that muscle, was brought about; again the stretching, aided by pressure from the dilated ureters, led to a similar symmetrical atrophy of the lateral muscles of the abdominal wall.

“The enlargement of the bladder led to fusion of its vertex with the umbilicus, and later to the formation of a urachus. Moreover, by pressure upon the umbilical vessels, it caused a diminution of the blood-supply on the one hand, resulting in deficient nutrition of the embryo; and, on the other hand, by interfering with the return of blood from the embryo, it rendered possible the development ‘of ascites, and a resulting further increase of the abdominal extension. Lastly by obstructing the entry to the inguinal canal, it hindered the entry of the testicle into the processus vaginalis, and its descent into the scrotum. :

“Later on the cause of the retention of urine disappeared. The abdominal walls, which had been stretched to a greater or less extent, became thrown into folds and contracted, owing to the increase of amniotic fluid which resulted from the outflow of urine into it. The bladder also shrank, but was unable to sink down into the lesser pelvic cavity, on account of its being fixed to the umbilicus, and of the altered conditions in the pelvic flood.”

We are inclined to accept the view, here put forward, that the condition of the abdominal musculature is secondary to dilatation of the bladder, and for the following reasons :

The appearance of the abdomen in such cases suggests that at some period it has been greatly distended by pressure from within, and the linear cicatrices at the bottom of the deep cutaneous furrows, observed in some cases, may have resulted from splitting of the deeper layers of the much stretched skin. On the other hand there can be no doubt that any such distension had already disappeared before the patients were born, for in more than one case the abdomen was said to have appeared peculiarly flattened at the time of birth.

It is noteworthy that in no instance were the abdominal muscles completely absent, and in the case of the recti the defect of the lower segments was much more pronounced than that of the upper. This strongly suggests that the development of the muscles was not primarily at fault, but that either their development was interfered with by pressure from within the abdomen or that the muscles had originally been formed in the normal manner, but had undergone atrophy from a similar cause. That such atrophy was due to a poliomyelitis can hardly be supposed in the light of Dr. Batten’s report on the spinal cord of our patient, and the very careful dissection carried out in Guthrie’s case showed that the muscles were comparatively well developed near their peripheral attachment, whereas the central and anterior portions were much more defective. This is Just what might be expected if their condition were due to the pressure from within exerted by a central viscus, such as a distended bladder. However, as we have seen, Dr. Batten considers that the microscopical appearance of the rudiments of muscles present in the abdominal wall suggest a failure of development rather than an atrophy.

The temporary obstruction during intra-uterine life, which Stumme’s theory involves, is not very easy to explain, and it must be remembered that in no instance was any condition observed which would account for urethral obstruction, not even a tight prepuce.

The fact that all the patients have been males tempts one to ascribe the obstruction to some kinking or constriction of the penile urethra, but as Stumme points out, there is another possible explanation. In his case a cystoscopic examination, made before the laparotomy at which the apex of the bladder was freed from the umbilicus, showed a deep fold in the anterior wall of the bladder and a displacement of the orifices of the ureters, which lay obliquely and almost in a line with each other ; after the operation the anterior fold had disappeared, and the orifices of the ureters had assumed their normal relations. He therefore suggests that the tugging of the urachus may have caused some obstruction of the intramural portions of the ureters, and of the vesical orifice of the urethra also. However, as Stumme points out, this necessitates an attachment of the upper pole of the bladder to the umbilicus as the prime factor, whereas such attachment has not been shown to be present in all cases.

Stumme is inclined to agree with Guthrie in attributing the abnormality of the umbilicus to the drag of the distended bladder upon it, but it is noteworthy that in Platt’s case, in which no evidence of abnormal situation or size of the bladder was forthcoming, and in Parker’s case, in which no attachment of the bladder to the umbilicus is mentioned in the report of the autopsy, similar abnormalities of the navel were observed.

The condition of the thorax in our case, and the similar deformities observed in other cases, seems to be sufficiently explained by the want of the anchorage which under ordinary circumstances is supplied by the abdominal muscles.

References

1. E.G. Stummz. — Ueber die Symmetrischen kongenitalen Bauchmuskeldefekte und iiber die Kombination derselben mit anderen Bildungsanomalien des Rumpfes. Mitteilungen aus den Grenzgebieten der Medizin und Chirurgie, x1, 548, 1903.

2. FrouLtico. — Der Mangel der Muskeln inbesondere der Seitenbauchmuskeln. Dissertation, Wurzburg, 1839.

3. F. A. von Ammon. — Die angeborenen chirurgischen Krankheiten des Menschen, 1842, p. 59.

4. B. Henprerson. — Congenital Absence of Abdominal Muscles. Glasgow Medical Journal, xxxin, p. 63, 1890.

5. W. B. Prarr. — A rare case of Deficiency of the Abdominal Muscles. Philadelphia Medical Journal, 1, 738, 1898.

6. R. W. Parxer. — Case of an Infant in whom some of the Abdominal muscles were absent. Transactions of the Clinical Society of London, xxvin, 201, 1895.

7. L. Gurarie. — Case of Congenital deficiency of the Abdominal Muscles. Transactions of the Pathological Society of London, xlvu, 189, 1896.

8. W. Oster. — Congenital Absence of the Abdominal Muscles with Distended and MHypertrophied Urinary Bladder. Johns Hopkins Hospital Bulletin, xii, 331, 1901.

Discussion

Dr. Lronarp G. GuTHRisz said that in his case he believed the testicles were in the scrotum. He disagreed with the author’s explanation of these cases as being due to some kinking or constriction of the penis which left no traces, but assuming that the faulty development of the abdominal muscles was primary, he thought that emptying of the fcetal bladder when surrounded with the liquor amnii might be difficult, and so lead to hypertrophy of the bladder. The dilatation of the ureters might be secondary to attachment of the summit of the bladder to the anterior abdominal wall leading to mechanical obstruction of the ureters. There was no direct evidence of any temporary obstruction to the urethra during intra-uterine life, and such would have to be in operation a very long time to bring about these effects. The case described in the paper was almost identical with his own. |

Dr. E. Farquyar Buzzarp was inclined to agree with Dr. Guthrie, and supported the view that arrested development of the abdominal muscles might be held to explain the other abnormalities in these cases. Before hypertrophy of the bladder had time to arise, dilatation of the bladder and ureters would take place owing to the accumulation of secretion which was not properly expelled in the absence of abdominal muscular contraction. He cited other instances of congenital symmetrical absence of certain muscles which he had observed.

Dr. G. Newton Pirr asked whether the hypertrophy of the bladder wall was uniformly distributed. Usually in a hypertrophied bladder the anterior wall is much the thicker, because the abdominal wall, holding up the bladder, flattens the anterior surface and reduces the curvature of that part. In the absence of the abdominal muscle the bladder should be spherical and the thickness of the wall uniform.

Dr. GaRRop, in reply, said that he fully recognised the difficulty of explaining the theoretical urinary obstruction during foetal life, but it appeared to him that the evidence for the view that the urinary condition was primary was stronger than that opposed to it. He could not answer the question as to the relative hypertrophy of the bladder on its anterior and posterior walls, as he was himself away when the autopsy was made, and the point was not mentioned in the notes.

Cite this page: Hill, M.A. (2024, May 29) Embryology Paper - On a group of associated congenital malformations. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Paper_-_On_a_group_of_associated_congenital_malformations

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