Paper - A foetus presenting a combination of rare anomalies (1922): Difference between revisions
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=A Foetus presenting a Combination of Rare Anomalies= | =A Foetus presenting a Combination of Rare Anomalies= | ||
By H. A. Harris | |||
Ernest Hart Memorial Scholar, B.M.A. Dept. of Anatomy, University College, London | |||
==Introduction== | |||
The investigation of the interdependence of the various processes of growth is attracting less attention than the search for evidence of the interdependence of the various physiological processes in the circulatory, excretory and endocrine systems. It therefore seems advisable to analyse all monsters with a view to ascertaining the extent of “action at a distance” in the various processes of growth. This attitude is the justification for the following description of a male foetus miscarried in the twenty-seventh week of pregnancy by a primiparous woman of 25 years of age. The foetus presented as a breech in the unruptured bag of membranes. The placenta was retained for one hour and its separation was followed by a sharp post-partum haemorrhage. The general health of the mother was good before and during pregnancy, and there was no history of a previous miscarriage. The paternal and family histories yielded nothing of note. | |||
==External Features== | |||
The foetus had been dead for some days in utero, and its macerated condition unfortunately interfered with histological examination. The length from crown to rump is 16 cms., and the weight is 400 grams. The subcutaneous fat and muscles are badly developed and the left half of the thorax appears to be markedly collapsed. The umbilical cord displays but one artery and one vein, a condition which is usually associated with some degree of sympodia (Ballantyne ’04, Dawson ’22), but which, in this case is associated with a right club-foot. The left arm is very short and presents only two fingers. The head and its apertures appear normal, but there is no trace of the anus or post-anal dimple, the median raphe extending from the tip of the coccyx to the base of the penis, which, with the scrotum, is normally developed for seven months. | |||
==X-Ray Examination== | |||
The vertebral column is decidedly irregular (fig. 1), the marked scoliosis being accompanied by malformation of the eighth and ninth dorsal vertebrae, which are wedge-shaped and exhibit single asymmetric centres of ossification for the centra. The upper seven dorsal vertebrae present double centres symmetrically placed and the third sacral presents a-single asymmetric centre. The centres of ossification for the neurocentral arches are normal except in the case. of the eighth and ninth left dorsal arches, where they are suppressed, and the sixth and seventh left, where they are fused. The ribs on the right side are normal, but on the left side the eighth and ninth ribs are wanting, and a first lumbar rib is present; moreover, varying degrees of fusion have occurred between the third, fourth, and fifth, the sixth and seventh, the eleventh and twelfth, so that posteriorly the eleven ribs are distributed over thirteen vertebrae, whereas anteriorly the number is apparently reduced to eight ribs, the first to the seventh being vertebro-sternal, the tenth to the twelfth vertebro-costal, and the thirteenth floating. The sternum displays centres of ossification in the three upper segments, a degree of ossification which is normal for the seventh month of foetal life. | |||
Fig. 1. Radiogram of the Foetus. | |||
The left upper limb has a short humerus, no radius or ulna, and two metacarpals with three phalanges apiece. There is a trace of a more radial metacarpal, but no phalanges are attached thereto. The centre of ossification for the body of the pubis has not appeared and the right foot is clubbed, the deformity being concentrated at the neck of the astragalus. The centre of ossification for the os calcis is present. | |||
==A. The Vertebral Column and Ribs== | |||
Ossification normally commences in the neuro-central arches (hemi-arches) of the cervical vertebrae about the seventh week of foetal life, and, extending caudally, reaches the region of the third sacral vertebrae about the seventh month. Ossification commences in the centra of the lower dorsal region about the seventh week, and, extending cranially and caudally, reaches the odontoid process at the fourth month and the fifth sacral vertebra at the fifth month. In the ribs, ossification takes place a few days ahead of ossification in the vertebrae, commencing in the seventh rib and spreading cranially and caudally (Pinkus °10, Keith ’21). The extent of the anomalous development in the vertebrae and ribs of this foetus is shown in the radiogram (fig. 1) and in the diagram constructed therefrom after dissection of the vertebral column (fig. 2). Perhaps the most interesting feature is the condition presented by the eighth and ninth thoracic vertebrae, in which the left half Fig. 2. Diagram of dorsal, lumbar and of the vertebrae is suppressed. sacral portions of vertebral column. | |||
The first record of deficiency of a half vertebra appears to be that of Rokitansky (1842), who regards the deficiency as a well-recognised cause of scoliosis. On the other hand, Struthers, in his description of vertebral variations (1875) does not mention absence of half a vertebra. In the same year Goodhart reports cases of deficiency of a half vertebra and cases of “doubling” of the centrum. Brash (1914-15) gives a summary of the literature previous to and after the advent of X-ray diagnosis and points out that there is a dearth of post-mortem corroboration of those cases of scoliosis which have been attributed to this cause. The most comprehensive studies of the anomalies of the vertebral column are those of Joachimstal (’10) and Falk (?20). A Foetus presenting a Combination of Rare Anomalies 79 | |||
In the recorded cases of vertebral anomalies there are but few references to the ribs. Goodhart (1875) records the case of an adult with the whole of the first lumbar, the left half of the twelfth thoracic, and the right half of the second lumbar vertebrae wanting, with the existence of a thirteenth rib on the left side. Willet and Walsham (1880) record a case of deficiency of four and a half vertebrae in the upper dorsal region, the fourth left and fifth right ribs being wanting. Bolk has described a human skeleton showing bifurcation of several ribs and a number of small bones intercalated between the laminae in the dorsal region of the spine. Falk (1920) describes several cases of deformities of the ribs associated with malformation of the vertebral column and quotes Putti as follows:—‘“Since the rib is to be regarded as a product of the ventral portion of the hemi-arch, the costal anomaly of the thoracic skeleton is always inseparably bound up with a vertebral anomaly, so that in a lack of the costal element, either a half vertebra or at least the ventral portion of the hemi-arch is missing. Also in fusion of the ribs, a sign of irregular segmentation exists in the vertebra.” | |||
An analysis of the cases of suppression or intercalation of a half vertebra shows that there is a site of maximum frequency. The condition has been observed from the third cervical to the third sacral region, fifty per cent. of the cases occurring between the eighth dorsal and first lumbar. As regards doubling of the centres, this is still more marked, as ninety per cent. of the cases occur between the first and ninth dorsal vertebrae. Ever since von Baer (1887) called attention to the asymmetry of the embryonic axis in relation to the yolk sac, various mechanical factors with marked bending, wrinkling or torsion of the embryonic axis have been invoked to explain skeletal anomalies. Jansen (’21) maintains that the stress of increased amniotic pressure in the precartilaginous (sclero-blastemous) stage of the embryo, when the amnion lies dorsal thereto, falls on the cervical and lumbar regions, leading to anencephaly and spina bifida. During the early cartilaginous stage when the amnion surrounds the embryo, the stress falls on the head, lumbo-dorsal column, and extremities, leading to achondroplasia (Jansen) and mongoloid idiocy (Van der Scheer ’18). Brash (’14—’15) records the case of a man with an absent half vertebra who served in the army and was free from marked deformity. The protagonists of excessive amniotic pressure have not described frequent vertebral anomalies, other than kyphosis in the cases of achondroplasia and mongoloid idiocy. Thus the limitations of the mechanical theory are evident. | |||
Falk rejects the various mechanical theories and attributes the condition to a defect of the primitive segmentation. It is evident that the problem must be examined anew in terms of the evolution of skeletal segmentation, and for this reason all cases of vertebral and costal irregularities, especially those ascertained in the course of routine X-ray examination, should be recorded. | |||
==B. The Thorax== | |||
The thymus is small and fails to cover any portion of the pericardial sac. The heart is displaced to the left and upwards so that the right border lies behind the right half of the sternum and the apex reaches the anterior border of the axilla in the third intercostal space. ‘The pericardium is adherent to the antero-lateral portion of the collapsed thoracic wall up to the level of the second intercostal space. The right lung is normal, but the left lung is absent. There is no trace of a left pleural cavity as the pericardium is loosely adherent to the costal parieties. The dome of the left half of the diaphragm ascends posterior and lateral to the pericardial sac and is closely applied to the posterolateral aspect of the chest wall to the level of the third rib, loose areolar tissue intervening. The left wall of the pericardial sac contains numerous muscular fibres supplied by twigs from the left phrenic nerve. | |||
The presence of muscular fibres innervated by the phrenic nerve in the left wall of the pericardium, the contiguity of the left half of the diaphragm and the costal parietes up to the level of the third rib space, together with the absence of the left pleural cavity and lung is of great importance in connection with Keith’s (’05, ’10) description of the réle played by the rectus abdominis and transversalis sheet of muscle in the formation of the diaphragm. I hope to discuss the significance of the condition here met with in a further contribution dealing with two atypical cases of diaphragmatic hernia. | |||
The oesophagus is definitely interrupted at the level of the seventh cervical vertebra (fig. 3). The larynx and cervical trachea are normal but the bifurcation of the trachea presents a striking anomaly. The right bronchus leads to the right lung, but in place of the left bronchus is a small canal of 1 mm. diameter, lined with epithelium, which passes downwards for 8mm. to become continuous with the distal portion of the oesophagus at the level of the sixth dorsal vertebra (fig. 3). | |||
Tracheo-oesophageal and broncho-oesophageal fistula with stenosis of the proximal part of the oesophagus has been frequently reported. Comprehensive studies of the condition have been published by Morell Mackenzie (1884), Happich (’05), Forssner (’07), Giffhorn (’08), Phillips (08) and Keith (’10). Three characteristics are afforded by the cases described; firstly, the large number of associated abnormalities such as imperforate anus, pulmonary stenosis, club foot, spina bifida and right aortic arch; secondly, the limitation of the stenosis of the oesophagus to the site of junction of two morphological portions of the oesophagus, the para-tracheal and retro-tracheal portions of Keith; thirdly, the site of origin of the tracheo-oesophageal fistula from the dorsal wall of the trachea near its bifurcation. Forssner and Keith attribute the condition to the lateral margins of the distal portion of tracheal groove uniting on the dorsal wall of the gut instead of in the ventral wall. | |||
The lung anlage of the 25mm. embryo and of the 4-25 mm. embryo (Rob. Meyer) is definitely unpaired. In the 4-9 mm. embryo (Hertwig) and 5mm. embryo (Rob. Meyer) the trachea is definitely divided off from the oesophagus and the right and left lung buds are developed; the right lung bud is the larger and is directed caudally, while the left has an almost transverse direction. In the 4mm. embryo Broman shows in addition to the tracheo-oesophageal septum which is as yet not separated off, a lateral oesophageal groove which causes the oesophagus to be a narrow anteroposterior figure 8 on cross-section. Obliteration of the posterior lumen of the figure 8, with persistence of the communication between the anterior lumen of the figure 8 and the trachea would lead to the condition which is being discussed. This has been suggested by Lewis (712). | |||
Fig. 3. Stenosis of the oesophagus with tracheo-oesophageal fistula. Tr. trachea; Oe. oesophagus; F. fistula; CC. common carotid; Ao. aorta; S. subclavian; V. vertebral artery. | |||
Keith and Spicer have described three consecutive cases of stenosis of the oesophagus with persistence of that abnormal right subclavian artery which passes dorsal to the oesophagus, and have attributed some function to this portion of the fourth right dorsal arch in the production of the deformity. This explanation is not warranted, as in the 4mm. embryo, which is close to the stage at which the deformity must arise, the fourth branchial artery is in relation to its branchial pouch and the dorsal aortae fuse in the neighbourhood of the second cervical segment. Similarly in the case under discussion the position of the tracheo-oesophageal fistula in relation to the left aortic arch (fig. 8) does not exist throughout development, as the elongation of the oesophagus takes place much more rapidly and to a far greater extent than the migration of the arches. The absence of the left bronchus and lung makes this case quite different from any of the fourteen cases collected by Keith (’10) from the Museums of the Royal College of Surgeons and Metropolitan Medical Schools. | |||
==C. The Heart and Great Vessels== | |||
The apex of the heart is bifid, and the ventricular septum is complete. The walls of the auricles are thin and the auricular septum is deficient, being represented by a few strands of tissue which cross the cavity on the posterior wall. The auriculo-ventricular, aortic, and pulmonary valves are normal. The Eustachian valve guarding the entrance of the inferior vena cava is normal, but the Thebesian valve guarding the entrance of the coronary sinus is larger than normal, the opening of the sinus being larger than the opening for the inferior vena cava. The auricular walls average 0-5 mm. in thickness and the ventricular walls 2-5 mm. | |||
The bifid apex is a condition which may appear with or without grave anomalies, and is normal to the dugong. In the 5mm. embryo, when the primary auricular and ventricular septa are forming, rapid downgrowth of the apices of the ventricles takes place so that the interventricular groove is distinct. Obliteration of this deep groove takes place in the 11 mm. stage by development downwards of the embryonic apex (Abbott °15). Mall (712) maintains that persistence of the bifid apex is due to absence of the muscular vortex normally present at the apex. A deeply bifid apex occurred in three of Théremin’s 106 cases, and in four of Abbott’s 631 cases of abnormal hearts. | |||
The auricular septum in this heart is represented only by a few strands which cross the cavity in the dorsal wall, so that the heart is virtually a case of “cor biventriloculare.” It is probable that this is an example of a huge persistent ostium secundum (foramen ovale) which has escaped closure through failure of development of the septum secundum. Such an anomaly is rare and points to the possibility of a disturbance occurring after the appearance of the septum primum (4 mm. stage) and before the appearance of the septum secundum (8 mm. stage). | |||
In a series of 681 cases, Abbott reports 14 cases of rudimentary auricular septum and five cases of complete absence, and states that persistence of the left superior vena cava belongs to the same complex. | |||
Fig. 4. Circulatory system. C.C. common carotid; S.A., S.V. subclavian artery and vein; P.A., P.V. pulmonary artery and vein; D. diaphragm; D.R. diaphragmatic recess posterolateral to pericardium; S.R. suprarenal; K. kidney; U. ureter; U.A. umbilical artery; I.M.A. inferior mesenteric artery; © recurrent laryngeal nerves; C.V. vessel communicating posterior aspect of the two systemic arches. The vessel is shown anteriorly for clearness. | |||
The internal jugular and subclavian veins of the right side form a vena cava superior which enters the right auricle. The corresponding vessels on the left form a vena cava superior which passes anterior to the left systemic arterial arch to forma dilated coronary sinus which enters the right auricle. The fused pulmonary veins from the right lung enter the left auricle as a single trunk near its upper border. The inferior vena cava and azygos system are normal. The phrenic and vagus nerves are also normal in their course and relations in the neck and thorax. | |||
The anomaly presented by the great veins is due to a persistence of the embryonic left superior vena cava and left duct of Cuvier with consequent replacement of the coronary sinus. This arrangement is normal in many mammals (Robinson °17). The left superior intercostal vein entered the left superior vena cava and the great cardiac vein entered the coronary sinus, but there was no trace of a left vena azygos major, neither was there a left lung root to assist in the task of ascribing any definite réle to any minute anastomosis. The anastomosis between the left and right superior venae cavae in the neighbourhood of the thymus was not well marked. | |||
The great arteries of the thorax present a condition hitherto undescribed. From the left ventricle (fig. 4) arises a right systemic arch which runs upwards and slightly to the right, arches backwards over the root of the right lung, and gives off in turn the left carotid, right carotid and right subclavian vessels. From the right ventricle ascends a left systemic trunk which is anterior and to the left of the vessel arising from the left ventricle. As it arches upwards and to the left it gives off a right pulmonary artery which passes dorsal to the ascending portion of the right systemic arch; it then continues as a welldefined arch, gives off the left vertebral and left subclavian arteries, and descends to join the right arch to form the descending aorta at the level of the upper border of the fifth dorsal vertebra. The calibre of the left arch is much greater than that of the right arch, and the terminal portion of the left arch lies immediately dorsal to the fistula between the trachea and oesophagus (fig. 3). A small communicating vessel of great interest runs from the posterior aspect of the ascending portion of the right arch to the posterior aspect of the ascending portion of the left arch. The abnormal termination of the abdominal aorta is clearly shown in fig. 4, the inferior mesenteric artery arising as a branch of the single (left) umbilical artery. | |||
Rathke’s classical description of the fate of the embryonic aortic arches, as modified by Boas (1887), is shown (fig. 5) for the sake of comparison. | |||
A comparison of fig. 6 with fig. 4 will indicate the nature of the explanation tentatively adduced to elucidate the arrangement of the primitive aortic arches in this foetus. The third arch on each side forms the commencement of the internal carotids. The fourth arch on the right side forms the transverse part of the right systemic arch. The sixth arch on the right persists as far as the outgrowth which forms the right pulmonary artery. The sixth arch on the left persists in toto as ductus arteriosus to form the transverse part of the left systemic arch. The small vessel communicating the ascending portions of the two great vessels arising from the heart may be regarded as a persistent fifth left arch, a persistent fourth left arch, or a vessel comparable to the small artery which is depicted by Tandler (’02), as an “‘arterien insula” in relation to the aortic arches. The proofs given by Evans (’09) that all the arteries develop originally as well-defined capillary networks permits of a chance anastomosis persisting along with the definitive arches. Most anatomists would regard this small vessel as a persistent fourth arch because the fifth arch of van Bemmelen (1886) is a transitory structure. Quite as legitimately one might argue that since the fourth left arch usually persists as the definitive aortic arch, this vessel cannot be the fourth arch. There is no certain means of ascertaining the identity of this vessel as no trace of the nerve of the fifth arch, the nervus post-trematicus of the superior lanyngeal branch of the vagus (Elze ’07) has been recorded in embryos of more than 20 mm. | |||
Fig. 5. The aortic arches and their transformations (after Rathke). 1. Ceratodus; 2. Salamander; 3. Triton; 4. Frog; 5. Lizard; 6. Bird; 7. Mammal. | |||
Fig. 6. Transformation of the aortic arches (cf. fig. 4). Ao. aorta; P. pulmonary; S. subclavian; V. vertebral; recurrent laryngeal nerves. | |||
The work of Bremer (’02, ’08) has shown the incorrectness of the conventional diagrams (fig. 5) in which both definitive pulmonary arteries are shown as sharing equally in the proximal parts of the left and right sixth arches, for in no mammal is this true. Man and most of the other mammals have a right pulmonary artery which is of this nature, but the left pulmonary artery is merely the original pulmonary outgrowth of that side, the corresponding proximal portion of its arch having been assimilated in the pulmonary trunk. In this specimen, in accordance with the absence of the left lung there is no trace of the left pulmonary arterial outgrowth from the left sixth arch. The positions of the recurrent laryngeal nerves are shown in fig. 6 and they confirm the tentative explanation of the fate of the aortic arches in this foetus. | |||
The subclavian of the right side is normal and represents the seventh segmental artery with the proximal part of the vertebral as its posterior primary division. The left subclavian artery has not moved cranially so far as the right, so that it retains its attachment to the dorsal aorta in the neighbourhood of the dorsal root of the sixth arch; and the vertebral, by absorption of the proximal part of the seventh segmental artery arises directly from the dorsal root of the sixth arch. This independent origin of the vertebral artery is comparable to the anomalous origin of the vertebral from the arch of the aorta (Thane 1896). Whereas in the latter case the vertebral artery usually enters the foramen transversarium of the fifth cervical instead of the sixth, in this case the vertebral entered the sixth. | |||
The surveys of Tiedemann (1829), Peacock (1866), Turner (1862) and Abbott (715) provide but few cases in any way comparable to the above, and no identical case has been found in the literature. The cases presenting a resemblance to the one under discussion can be arranged in three groups (Turner 1862) :— | |||
1. ‘“‘Cases presenting atrophy of the fourth left aortic arch between the origins of the common carotid and subclavian arteries, with persistence of the sixth arch.” | |||
Greig’s (1852) famous case was that of a foetus in which two arteries arose from the base of the heart; one, the aorta, ascended to the right and divided into left common carotid, right common carotid and right subclavian; the other, the pulmonary, gave off a branch to each lung and then continued onwards into the descending aorta which received its supply of blood solely from this source. The left subclavian arose from the latter trunk after it had given off the branches to the two lungs. The ventricular septum was also deficient in its upper part. Breschet reported a case in which the left subclavian arose from the pulmonary artery, but no account is given of the condition of the aorta. | |||
2. “Cases presenting atrophy of the fourth left aortic arch beyond the origin of the subclavian.” | |||
This group includes those cases of coarction of the aorta which are divided into two sub-groups :— | |||
(a) A diffuse narrowing of the aorta at the isthmus [Bonnet’s (’03) infantile type]. In some of these cases in which the stenosis is marked, the circulation in the lower part of the body is maintained by a large patent ductus arteriosus | |||
Fig. 7. Aortic system of His’ embryo Si. 12-5 mm. Ao. aorta; C.C. common carotid; V. vertebral artery; P. pulmonary trunk; R.P. and L.P. right and left pulmonary arteries. | |||
through which the descending aorta appears to be a direct continuation of the pulmonary artery. | |||
(6) A more or less abrupt construction of the aorta at or near the insertion of the ductus arteriosus (Bonnet’s adult type). Here, where coarction is marked, and has lasted some time, the establishment of an extensive collateral circulation lends distinctive features to the case. Amongst 212 cases collected by Peacock, Bonnet and Abbott, fifteen cases were of a marked infantile type so that the descending aorta was supplied by a large patent ductus arteriosus. The first case of complete coarction was that reported by Steidele (1826). | |||
8. “Cases presenting transference of the left subclavian at its origin from the fourth to the sixth aortic arc. | |||
In the case recorded by Holst (1886) the vertebral was given off at the place of junction. A closely similar case was reported by. Hildebrand (1842), but the left vertebral arose from the left common carotid. | |||
Thus this particular case is unique in the combination which it presents of a persistent right systemic arch, patent ductus arteriosus with marked coarction of the fourth left arch, and a small communicating vessel of unknown origin, Still further is it complicated by the absence of the left pulmonary artery. | |||
The 12-5 mm. embryo described by His (fig. 7) presents a right arch of small calibre, a fourth left arch of large calibre and a patent ductus. The obliteration of the fourth left arch and of that portion of the dorsal aorta between the dorsal roots of the fourth and sixth arches on this side would give rise to a condition closely resembling that in the foetus described. Moreover, the relative calibre of the right and left systemic arches in this embryo is approximately the same as in the foetus. | |||
==D. Abdomen and Pelvis== | |||
The anterior abdominal wall is poorly developed. The umbilical vein is normal but the single umbilical artery is disposed to the left, there being no trace of the right umbilical artery to the right of the empty bladder. The viscera are normal in disposition, but the inferior mesenteric artery arises from the left umbilical artery below the bifurcation of the aorta which occurs at the level of the third lumbar vertebra (fig. 4). | |||
The rectum (fig. 8), distended with meconium, reaches to within 1-5 mm. of the surface in the region of the imperforate anus. The viscus presents a well-marked ampulla of 6 mm. diameter which ends by a small canal of less than 1mm. diameter in a cul-de-sac. There is no fistulous communication between the rectum and the urethra. The main valve of Houston is welldeveloped at the level of the recto-vesical fold of peritoneum. | |||
The statistics of atresia ani et recti in its various modifications, as collected by Curling (1876), Spriggs (712) and Keith (’10), show that the commonest anomaly is imperforate anus with recto-urethral fistula opening in the region of the termination of the prostatic urethra. More than 60 per cent. of Keith’s male cases fall into this group whereas only seven cases out of 54 present the condition represented in fig. 8, i.e. atresia ani simplex with the rectum ending blindly at the proctodaeum. | |||
The views of the fate of the embryonic cloaca are still conflicting. The generally-accepted view of the division of the cloaca, by down growth of a uro-rectal septum into a ventral urogenital and a dorsal rectal portion, is strongly opposed by the comparative and embryological evidence brought forward by Wood-Jones (’04), who maintains that the cloaca forms the urogenital sinus only, the rectum being developed as a new outgrowth (postallantoic gut) from the primitive hind gut. Recent work by Pohlman (’11), Buchanan and Frazer (’18) support the former view, and such a view is apparently sufficient to explain the case represented in fig. 8. But this view fails to explain the commonest condition—that in which recto-urethral fistula accompanies imperforate anus. Retterer (1890) describes the separation of the cloaca by two lateral cloacal folds which grow medially and fuse. Zuckerkandl (’08) states that the division of the cloaca is accomplished by three folds, a median (uro-rectal) and two lateral, which eventually obliterate the triradiate space between their free borders. Either of these two views, by supposing incomplete fusion of the septa, will explain the persistence of a communication between the two derivatives of the cloaca. Such a view would necessitate a wide degree of variation in the position of the fistulous communication. According to Wood-Jones, the recto-urethral fistula is a persistence of the cloacal anus of the early embryo—comparable to the cloacal anus of Echidna. This cloacal anus which is doomed to be exchanged for the definitive anus of the adult is bounded cranially by that sheet of recto-cloacal muscle which can be recognised in every adult pelvis as the recto-urethral muscle, and marks the most caudal limit of the peritoneal cavity in the recto-vesical pouch, which is of great depth in the foetus. In the adult, the recto-urethralis muscle consists of longitudinal fibres of the rectum which sweep downwards and forwards to the apex of the prostate and reascend in the muscular coat of the prostatic urethra (Elliot Smith ’08). The main rectal valve of Houston (fig. 8) serves to demarcate the site of this early embryonic communication. | |||
Fig. 8. Imperforate anus. B. bladder; U. ureter; P.R. prostate; P. peritoneal cavity; R. rectum; V. main valve of Houston. | |||
Thus this case of atresia ani serves to illustrate the need for a comprehensive examination of the development of the hind-end of the body. | |||
The testicles are situated at the internal abdominal rings and their progress through the abdominal wall has commenced, as is shown by the extension of the gubernacula along the inguinal canals. The right kidney, suprarenal and ureter are normal, but there is no trace of the left kidney, left ureter or left renal vessels. The left suprarenal is present. Both suprarenals and the right kidney are free from any abnormality of size and position, though the left suprarenal exhibits some alteration in shape owing to the absence of the left kidney. The trigonum of the bladder presents a patent right ureteric orifice but there is no trace of the left. The urethra and prostate are normal. | |||
The absence of one kidney is a matter of interest to the surgeon and its occurrence is as frequent as that of imperforate anus, roughly one in 5000. Previous to the masterly analysis of Sir Henry Morris, the observers failed to differentiate clearly between entire absence of one kidney, congenital atrophy of one kidney and fusion of two kidneys. The statistics of Thompson (’18) and Gladstone (’14) show that the left kidney is absent about twice as often as the right, and that deformities of the urogenital organs are not the only congenital defects which may accompany the condition. The corresponding _ suprarenal is present in 90 per cent. of the cases in which one kidney is absent. | |||
The right kidney in this case is normal in size, position, and blood supply, definitely disproving the statement frequently reiterated that a single kidney always exceeds the normal in size (Craven Moore, Gladstone). As Morris says, “an unsymmetrical kidney, like a renal mass composed of two kidneys fused together, may be either of much greater magnitude than the normal kidney, or not at all in excess of the normal.’”? The question of hyperplasia versus hypertrophy of the glomerular elements has been discussed by Galeotti and Santa (’02), Eckardt (1888), Moore (’06) and Boycott (’10—’14). | |||
The Wolffian duct reaches the cloaca in the 4mm. embryo (Mall) and presents no traces of the renal bud. The renal bud appears near the termination of the Wolffian duct in the 5mm. embryo. Thus the upgrowth of the renal bud to form the ureter and kidney occurs between the 4-5 and 5 mm. stage and proceeds so rapidly that the hilum of the kidney reaches its adult position by the end of the second month. Suppression of one kidney appears to be due to failure of the outgrowth from the hind end of the Wolffian duct, with the result that the ureteric orifice is absent although the testis, vas, and ejaculatory ducts may be normal. Gladstone says that “congenital absence of the kidney and ureter is in all probability due to an arrest in the development of the distal end of the Wolffian duct and to a failure in its union with the cloaca.” This explanation will not account for the presence of a normal testis and vas deferens in this case. | |||
As Felix (’12) has shown there is no close parallel between the segmentation of the mesonephros and the somatic segments; the condition is one of marked dysmetamerism. In the 2-5 mm. embryo the mesonephros extends from the second to the fourth thoracic segments with eight well-developed tubules. In the 4-25 mm. embryo the mesonephros extends from the seventh cervical to the second lumbar segment and contains 28 tubules. Thus the mesonephros grows both caudally and cranially. The cranial growth is completed in an embryo of 5-3 mm. (at the fifth cervical) and the caudal growth in an embryo of 7 mm. (at the third lumbar). Immediately the cranial growth is completed, degeneration sets in at the cranial end, so that ultimately the mesonephros is limited to the lumbar segments. | |||
Fig. 9. Reconstruction of the arteria umbilicalis in a human embryo 5:3 mm. long. The umbilical artery is seen to arise from the aorta by three roots, a visceral and two parietal (after Felix, 1910). Ao. aorta; U.A. umbilical artery; H.@. hind gut; Cl. cloaca; A. allantois; W.D. Wolffian duct; R.B. renal bud; N. notochord; S.C. spinal cord. | |||
The ureteric bud appears at first between the 4-5 mm. and 5-3 mm. stage on the dorsal wall of the Wolffian duct and then inclines more and more towards its medial surface (Felix ’12). This secondary medial position is of importance from the comparative point of view, since it persists throughout life in the marsupials and in these forms is an obstacle to the union of the two Miillerian ducts (Keibel 1896). At this stage (fig. 9) the Wolffian duct lies between the visceral (primary) and parietal (secondary) roots of the umbilical artery. Persistence of the visceral root will offer a serious hindrance to the development of the ureteric bud for, as is well shown by the clinical history of arterial aneurism, every tissue has to give way to an expanding artery. Therefore it is suggested that persistence of the primary visceral root of the umbilical artery may prevent the development of the renal bud. This still leaves one faced with the difficulty of accounting for the persistence or late disappearance of this visceral root. | |||
In the 1-38 mm. embryo (Kroemer-Pfannenstiel) the umbilical artery arises by several roots in common with the vitelline arteries at the level of the fourth cervical segment, and migrates caudally to reach the fourth lumbar segment at the 5-3mm. stage when both visceral (primary) and parietal (secondary) roots exist for a short time coincidently, so as to form an arterial ring enclosing the Wolffian duct (Keibel and Elze ’08). Thus, during their caudal migration, the umbilical arteries must have passed over those segments, eighth and ninth thoracic, which show complete suppression on the left side, as displayed by the absence of the two half vertebrae, eighth and ninth ribs, and eighth and ninth thoracic nerves. One is tempted to suggest that this foetus, somewhere near the 4-5 mm. stage, was subjected to an arrest in development in the precartilaginous stage which led to defective development of the heart, great vessels and lungs, defective development of the left half of the eighth and ninth thoracic segments, defective development of the left kidney, and defective development of the cloacal membrane. The obvious objection to the above is the disposition of the vascular, lung, renal and upper limb anomalies to the left side of the body, whereas the umbilical artery is defective on the right side. The primitive defect of segmentation may be closely associated with an exaggeration of that degree of asymmetry of the embryonic axis which von Baer described almost a hundred years ago as a normal characteristic of the embryo. | |||
My thanks are due to Mr Bendit, of University College Hospital, who procured the specimen: to my colleagues in the Anatomy, Radiographic and Gynaecological Departments who have been my ready helpers; and to Mr Gerrard, of the Slade School of Art, who has devoted much labour to the preparation of the wood-cuts. | |||
==Addendum== | |||
Opportunity has recently been afforded for the examination of a full-term male baby aged three weeks of the same parentage. The baby presents buphthalmia, bilaterally symmetrical nevi of the naso-facial angle and hypospadias. This confirms the ancient dictum that the mother who gives birth, to a merosomatous monster is more likely to give birth - to another merosomatous monster than to a normal child. 94 H. A. Harris | |||
==References== | |||
===A. Vertebral Column=== | |||
Botx. “On a human skeleton showing bifurcation of several ribs and a number of little bones intercalated between the laminae in the dorsal region of the spine.” Overdruk wit “ Petrus Camper.” Deel 1, Alflevering 2. | |||
Barpesen, C. R. Manual of Human Embryology, Keibel and Mall, vol. 1. p. 350. 1910. | |||
Brasu, J. C. [An Anomalous Vertebral Column.”] Journ. of Anat. and Phys. vol. 49, p. 243. 1915. | |||
Fax. “Uber angeborene Wirbelsiulenverkrummungen.” Studien z. Pathologie der Entwicklung, Meyer and Schwalbe, Bd. 2, p. 211. 1920. | |||
Goopnakt, J. F. “Description of Three Cases of Malformation of the Spinal Column associated with Lateral Curvature.” Journ. of Anat. and Phys. vol. 1x. p. 1. 1875. | |||
JANSEN, M. Feebleness of Growth and Congenital Dwarfism. Oxford Univ. Press, p. 49. 1921. | |||
Joacuimsta. ‘Ueber angeborene Wirbelanomalien als Ursache von Riickgratsverkrummungen.” Deutsch. Med. Wochenschr. Bd. 36, S. 1704. 1910. | |||
Kerra, A. Human Embryology and Morphology, Edit. 4, p. 61. 1921. | |||
Purti, V. “Die angeborenen Deformitaiten der Wirbelsiule.” Fortschr. a. d. Gebiete d. Rontgenstrahlen, Bd. 15, 8. 65 etc. 1910. : | |||
Roxrransky, C. Manual of Path. Anat. Syd. Soc. vol. m1. p. 255. 1850. | |||
Srrutuers, J. “On Variations of the Vertebrae and Ribs in Man.” Journ. of Anat. and Phys. vol. 1x. p. 17. 1875. | |||
Van DER ScHEER. “Over Mongolismus.” Nederl. Maandschr. voor Verloskunde. 1918. | |||
Von Base, K. E. Entwicklungsgeschichte. Erste Abtheilung. 1837. | |||
Wuert, A. and Watsuam, W. G. Proc. Roy. Med. and Chir. Soc., Lancet, vol. 1. p. 720. 1880. | |||
===B. Thorax=== | |||
Forssyer, H. “Darm- und Oesophagusatresien.” Anat. Hefte, Bd. 34, S. 1-163. 1907. | |||
Girrnorn, H. “Beitrag zur Aetiologie der kongenitalen Atresie des Oesophagus mit Oesophagotrachealfistel.”” Arch. f. path. Anat. Bd. 192, S. 112. 1908. | |||
Happicu, C. L. V. Ueber Ocsophagusmissbildungen. Inaug. Diss. Marburg, S. 1-65. 1905. | |||
Kerr, A. and Spicer, J. E. “Three Cases of Malformation of the Tracheo-oesophageal Septum.” Journ. of Anat. and Physiol. vol. 41, p. 52. 1907. | |||
Kerra, A. “Constrictions and Occlusions of the Alimentary Tract.” Brit. Med. Journ. vol. 1. p. 301. 1910. | |||
Lewis, F. T. Manual of Human Embryology, Keibel and Mall, vol. 11. p. 313. 1912. | |||
Mackenziz, M. Manual of Diseases of the Throat and Nose, vol. 11. 1884. | |||
===C. Heart And Great Vessels=== | |||
Assort, M. E., in Syst. of Med. Osler and McCrae, vol. 1v. p. 323. 1915. | |||
BauuantyneE. Antenatal Pathology, vol. 2, The Embryo, p. 592, 1904, and Trans. Edin. Obst. Soc. vol. xxi. p. 54. 1898. | |||
Boas, J. E. V. ‘Ueber die Arterienbogen der Wirbelthiere.” Morph. Jahrb. Bd. 13, 8. 155. 1888. | |||
Bonnet, L. M. Revue de Médecine, Tome 23, p. 108, etc. 1903. | |||
Bremer, J. L. “On the Origin of the Pulmonary Arteries in Mammals,” Amer. Journ. of Anatomy, vol. 1, p. 187-144, 1902; and Anat. Record, vol. 3, p. 335. 1908. | |||
Brescuet, G. “Mémoire sur Il’Ectopie du Coeur.” Répert. Général, Tome 1. | |||
Dawson, A. B. “Some Significant Features of the Anatomy of a Symelian Monster.” Anat. Record, vol. 23, p. 15. 1922. | |||
Ezz, C. ‘Beschreibung eines menschl. Embryo von za. 7mm. grésster Linge.” Anat. Hefte Bd. 35, S. 409. 1908. ' | |||
Grutc, D. “Pulmonary Artery giving off Descending Aorta and Left Subclavian.” Month. Journ. of Med. Sci. vol. 15, p. 28. 1852. | |||
Huprsranv. Arch. Gén. de Méd. Tome xiv. p. 87. 1842. | |||
Houstr. Arch. Gén. de Méd. Tome xt. p. 91. 1836. | |||
Mau, F. P. Anat. Record, vol. 6, p. 167. 1912. | |||
Pxracoox, T. B. Malformations of the Human Heart, Edit. 2, 1866. A Foetus presenting a Combination of Rare Anomalies 95 | |||
Rosson, A. Cunningham’s Text-Book of Anatomy, p. 1258. 1917. | |||
SrereEtn. Quoted in J. F. Meckel’s Handb. der path. Anat. vol. 1. p. 468, 1812, and in H. F. Kilian’s Ueber den Kreislauf des Blutes. 1826. | |||
Tanpuirez. “Zur Entwicklungsgeschichte der Kopfarterien bei den Mammalia.” Morph. Jahrb. Bd. 30, 8. 275. 1902. | |||
Tuanz, G. D. Quain’s Anatomy, Edit. 10, vol. 1, Pt. 1. p. 422. 1892. | |||
Tutremin, E. Etudes sur les affections congénitales du ceur, Par. 1895. | |||
Treprmann, F. Arteries of the Human Body. Trans. by Knox, Edinburgh, 1829. | |||
===D. Abdomen and Pelvis=== | |||
====I. Imperforate Anus and Cloaca==== | |||
Bucuanay, G. and Frazer, E. A. “The Development of the Urogenital System in the Marsupialia, with special reference to T'richosurus Vulpecula.” Journ. of Anat. vol. 53, p. 35. 1918. | |||
Curtina, T. B. Observations on the Diseases of the Rectum and Anus. Edit. 4, p. 197. London, 1876. | |||
Surry, G. E. “Studies in the Anatomy of the Pelvis with special reference to the Fasciae and Visceral Supports.” Journ. of Anat. and Phys. vol. xiii. pp. 198-218, 252-270. 1908. | |||
Kurru, A. “Malformations of the Hind End of the Body.” Brit. Med. Journ. vol. 11. p. 1736. 1908. | |||
Poutman, A. G. “The Cloaca in Human Embryos.” Amer. Journ. of Anat. vol. 12, p. 1. 1911-12. | |||
Rerrerer, E. “Sur Porigine et ’évolution de la région ano-génitale des mammifeéres.” Journ. de P Anat. et de la Phys. vol. 26, pp. 126, 153. 1890. | |||
Sprices, N. I. Guy’s Hospital Reports, vol. 66, p. 143. 1912. | |||
Woop-Jonzs, F. “The nature of the malformations of the rectum and urogenital passages.” Brit. Med. Journ. vol. m1. p. 1630. 1904. | |||
Frisou, A. v. and ZUCKERKANDL, O. Handbuch der Urologie, 1904. | |||
====II. Kidney and Wolffian Duct==== | |||
Boycort, A. E. “A case of Unilateral Aplasia of the Kidney in a Rabbit.” Journ. of Anat. and Phys. vol. 45, p. 20. 1911. | |||
Eoxarpt, C. T. Virchow’s Archiv, vol. 114, p. 217. 1888. | |||
Fe.rx, W. in Manual of Human Embryology, Keibel and Mall, vol. m1. p. 833. 1912. | |||
Gaxxorrt, G. and Vitta-Santa, G. Ziegler’s Bettrdge, vol. xxx1. p. 121. 1902. | |||
GuapstongE, R. J. “A Case of congenital absence of the Left Kidney and Ureter.” Journ. of Anat. and Phys. vol. xix. p. 418. 1915. | |||
Kerszt, F. “Zur Entwicklungsgeschichte des menschl. Urogenitalapparatus.” Arch. f. Anat. und Entwick. Anat. Abth. p. 55. 1896. | |||
Kurset, F, and Exzz, C. Normentafeln zur Entwicklungsgeschichte der Wirbeltiere, p. 161. 1908. | |||
Tuompson, R. “Figures relative to Congenital Abnormalities of the Upper Urinary Tract, and some points in the Surgical Anatomy of the Kidneys, Ureter and Bladder.” Journ. of Anat. and Phys. vol. 48, p. 280. 1914. | |||
Moors, F. C. “The Unsymmetrical Kidney.” Studies in Anatomy, Manchester University, Editor, A. H. Young. Vol. m1. p. 149. 1906. | |||
Morzis, H. Surgical Diseases of the Kidney, p. 70. 1885. | |||
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Harris HA. A foetus presenting a combination of rare anomalies. (1922) J Anat. 57: 76-95. PMID 17103961
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A Foetus presenting a Combination of Rare Anomalies
By H. A. Harris
Ernest Hart Memorial Scholar, B.M.A. Dept. of Anatomy, University College, London
Introduction
The investigation of the interdependence of the various processes of growth is attracting less attention than the search for evidence of the interdependence of the various physiological processes in the circulatory, excretory and endocrine systems. It therefore seems advisable to analyse all monsters with a view to ascertaining the extent of “action at a distance” in the various processes of growth. This attitude is the justification for the following description of a male foetus miscarried in the twenty-seventh week of pregnancy by a primiparous woman of 25 years of age. The foetus presented as a breech in the unruptured bag of membranes. The placenta was retained for one hour and its separation was followed by a sharp post-partum haemorrhage. The general health of the mother was good before and during pregnancy, and there was no history of a previous miscarriage. The paternal and family histories yielded nothing of note.
External Features
The foetus had been dead for some days in utero, and its macerated condition unfortunately interfered with histological examination. The length from crown to rump is 16 cms., and the weight is 400 grams. The subcutaneous fat and muscles are badly developed and the left half of the thorax appears to be markedly collapsed. The umbilical cord displays but one artery and one vein, a condition which is usually associated with some degree of sympodia (Ballantyne ’04, Dawson ’22), but which, in this case is associated with a right club-foot. The left arm is very short and presents only two fingers. The head and its apertures appear normal, but there is no trace of the anus or post-anal dimple, the median raphe extending from the tip of the coccyx to the base of the penis, which, with the scrotum, is normally developed for seven months.
X-Ray Examination
The vertebral column is decidedly irregular (fig. 1), the marked scoliosis being accompanied by malformation of the eighth and ninth dorsal vertebrae, which are wedge-shaped and exhibit single asymmetric centres of ossification for the centra. The upper seven dorsal vertebrae present double centres symmetrically placed and the third sacral presents a-single asymmetric centre. The centres of ossification for the neurocentral arches are normal except in the case. of the eighth and ninth left dorsal arches, where they are suppressed, and the sixth and seventh left, where they are fused. The ribs on the right side are normal, but on the left side the eighth and ninth ribs are wanting, and a first lumbar rib is present; moreover, varying degrees of fusion have occurred between the third, fourth, and fifth, the sixth and seventh, the eleventh and twelfth, so that posteriorly the eleven ribs are distributed over thirteen vertebrae, whereas anteriorly the number is apparently reduced to eight ribs, the first to the seventh being vertebro-sternal, the tenth to the twelfth vertebro-costal, and the thirteenth floating. The sternum displays centres of ossification in the three upper segments, a degree of ossification which is normal for the seventh month of foetal life.
Fig. 1. Radiogram of the Foetus.
The left upper limb has a short humerus, no radius or ulna, and two metacarpals with three phalanges apiece. There is a trace of a more radial metacarpal, but no phalanges are attached thereto. The centre of ossification for the body of the pubis has not appeared and the right foot is clubbed, the deformity being concentrated at the neck of the astragalus. The centre of ossification for the os calcis is present.
A. The Vertebral Column and Ribs
Ossification normally commences in the neuro-central arches (hemi-arches) of the cervical vertebrae about the seventh week of foetal life, and, extending caudally, reaches the region of the third sacral vertebrae about the seventh month. Ossification commences in the centra of the lower dorsal region about the seventh week, and, extending cranially and caudally, reaches the odontoid process at the fourth month and the fifth sacral vertebra at the fifth month. In the ribs, ossification takes place a few days ahead of ossification in the vertebrae, commencing in the seventh rib and spreading cranially and caudally (Pinkus °10, Keith ’21). The extent of the anomalous development in the vertebrae and ribs of this foetus is shown in the radiogram (fig. 1) and in the diagram constructed therefrom after dissection of the vertebral column (fig. 2). Perhaps the most interesting feature is the condition presented by the eighth and ninth thoracic vertebrae, in which the left half Fig. 2. Diagram of dorsal, lumbar and of the vertebrae is suppressed. sacral portions of vertebral column.
The first record of deficiency of a half vertebra appears to be that of Rokitansky (1842), who regards the deficiency as a well-recognised cause of scoliosis. On the other hand, Struthers, in his description of vertebral variations (1875) does not mention absence of half a vertebra. In the same year Goodhart reports cases of deficiency of a half vertebra and cases of “doubling” of the centrum. Brash (1914-15) gives a summary of the literature previous to and after the advent of X-ray diagnosis and points out that there is a dearth of post-mortem corroboration of those cases of scoliosis which have been attributed to this cause. The most comprehensive studies of the anomalies of the vertebral column are those of Joachimstal (’10) and Falk (?20). A Foetus presenting a Combination of Rare Anomalies 79
In the recorded cases of vertebral anomalies there are but few references to the ribs. Goodhart (1875) records the case of an adult with the whole of the first lumbar, the left half of the twelfth thoracic, and the right half of the second lumbar vertebrae wanting, with the existence of a thirteenth rib on the left side. Willet and Walsham (1880) record a case of deficiency of four and a half vertebrae in the upper dorsal region, the fourth left and fifth right ribs being wanting. Bolk has described a human skeleton showing bifurcation of several ribs and a number of small bones intercalated between the laminae in the dorsal region of the spine. Falk (1920) describes several cases of deformities of the ribs associated with malformation of the vertebral column and quotes Putti as follows:—‘“Since the rib is to be regarded as a product of the ventral portion of the hemi-arch, the costal anomaly of the thoracic skeleton is always inseparably bound up with a vertebral anomaly, so that in a lack of the costal element, either a half vertebra or at least the ventral portion of the hemi-arch is missing. Also in fusion of the ribs, a sign of irregular segmentation exists in the vertebra.”
An analysis of the cases of suppression or intercalation of a half vertebra shows that there is a site of maximum frequency. The condition has been observed from the third cervical to the third sacral region, fifty per cent. of the cases occurring between the eighth dorsal and first lumbar. As regards doubling of the centres, this is still more marked, as ninety per cent. of the cases occur between the first and ninth dorsal vertebrae. Ever since von Baer (1887) called attention to the asymmetry of the embryonic axis in relation to the yolk sac, various mechanical factors with marked bending, wrinkling or torsion of the embryonic axis have been invoked to explain skeletal anomalies. Jansen (’21) maintains that the stress of increased amniotic pressure in the precartilaginous (sclero-blastemous) stage of the embryo, when the amnion lies dorsal thereto, falls on the cervical and lumbar regions, leading to anencephaly and spina bifida. During the early cartilaginous stage when the amnion surrounds the embryo, the stress falls on the head, lumbo-dorsal column, and extremities, leading to achondroplasia (Jansen) and mongoloid idiocy (Van der Scheer ’18). Brash (’14—’15) records the case of a man with an absent half vertebra who served in the army and was free from marked deformity. The protagonists of excessive amniotic pressure have not described frequent vertebral anomalies, other than kyphosis in the cases of achondroplasia and mongoloid idiocy. Thus the limitations of the mechanical theory are evident.
Falk rejects the various mechanical theories and attributes the condition to a defect of the primitive segmentation. It is evident that the problem must be examined anew in terms of the evolution of skeletal segmentation, and for this reason all cases of vertebral and costal irregularities, especially those ascertained in the course of routine X-ray examination, should be recorded.
B. The Thorax
The thymus is small and fails to cover any portion of the pericardial sac. The heart is displaced to the left and upwards so that the right border lies behind the right half of the sternum and the apex reaches the anterior border of the axilla in the third intercostal space. ‘The pericardium is adherent to the antero-lateral portion of the collapsed thoracic wall up to the level of the second intercostal space. The right lung is normal, but the left lung is absent. There is no trace of a left pleural cavity as the pericardium is loosely adherent to the costal parieties. The dome of the left half of the diaphragm ascends posterior and lateral to the pericardial sac and is closely applied to the posterolateral aspect of the chest wall to the level of the third rib, loose areolar tissue intervening. The left wall of the pericardial sac contains numerous muscular fibres supplied by twigs from the left phrenic nerve.
The presence of muscular fibres innervated by the phrenic nerve in the left wall of the pericardium, the contiguity of the left half of the diaphragm and the costal parietes up to the level of the third rib space, together with the absence of the left pleural cavity and lung is of great importance in connection with Keith’s (’05, ’10) description of the réle played by the rectus abdominis and transversalis sheet of muscle in the formation of the diaphragm. I hope to discuss the significance of the condition here met with in a further contribution dealing with two atypical cases of diaphragmatic hernia.
The oesophagus is definitely interrupted at the level of the seventh cervical vertebra (fig. 3). The larynx and cervical trachea are normal but the bifurcation of the trachea presents a striking anomaly. The right bronchus leads to the right lung, but in place of the left bronchus is a small canal of 1 mm. diameter, lined with epithelium, which passes downwards for 8mm. to become continuous with the distal portion of the oesophagus at the level of the sixth dorsal vertebra (fig. 3).
Tracheo-oesophageal and broncho-oesophageal fistula with stenosis of the proximal part of the oesophagus has been frequently reported. Comprehensive studies of the condition have been published by Morell Mackenzie (1884), Happich (’05), Forssner (’07), Giffhorn (’08), Phillips (08) and Keith (’10). Three characteristics are afforded by the cases described; firstly, the large number of associated abnormalities such as imperforate anus, pulmonary stenosis, club foot, spina bifida and right aortic arch; secondly, the limitation of the stenosis of the oesophagus to the site of junction of two morphological portions of the oesophagus, the para-tracheal and retro-tracheal portions of Keith; thirdly, the site of origin of the tracheo-oesophageal fistula from the dorsal wall of the trachea near its bifurcation. Forssner and Keith attribute the condition to the lateral margins of the distal portion of tracheal groove uniting on the dorsal wall of the gut instead of in the ventral wall.
The lung anlage of the 25mm. embryo and of the 4-25 mm. embryo (Rob. Meyer) is definitely unpaired. In the 4-9 mm. embryo (Hertwig) and 5mm. embryo (Rob. Meyer) the trachea is definitely divided off from the oesophagus and the right and left lung buds are developed; the right lung bud is the larger and is directed caudally, while the left has an almost transverse direction. In the 4mm. embryo Broman shows in addition to the tracheo-oesophageal septum which is as yet not separated off, a lateral oesophageal groove which causes the oesophagus to be a narrow anteroposterior figure 8 on cross-section. Obliteration of the posterior lumen of the figure 8, with persistence of the communication between the anterior lumen of the figure 8 and the trachea would lead to the condition which is being discussed. This has been suggested by Lewis (712).
Fig. 3. Stenosis of the oesophagus with tracheo-oesophageal fistula. Tr. trachea; Oe. oesophagus; F. fistula; CC. common carotid; Ao. aorta; S. subclavian; V. vertebral artery.
Keith and Spicer have described three consecutive cases of stenosis of the oesophagus with persistence of that abnormal right subclavian artery which passes dorsal to the oesophagus, and have attributed some function to this portion of the fourth right dorsal arch in the production of the deformity. This explanation is not warranted, as in the 4mm. embryo, which is close to the stage at which the deformity must arise, the fourth branchial artery is in relation to its branchial pouch and the dorsal aortae fuse in the neighbourhood of the second cervical segment. Similarly in the case under discussion the position of the tracheo-oesophageal fistula in relation to the left aortic arch (fig. 8) does not exist throughout development, as the elongation of the oesophagus takes place much more rapidly and to a far greater extent than the migration of the arches. The absence of the left bronchus and lung makes this case quite different from any of the fourteen cases collected by Keith (’10) from the Museums of the Royal College of Surgeons and Metropolitan Medical Schools.
C. The Heart and Great Vessels
The apex of the heart is bifid, and the ventricular septum is complete. The walls of the auricles are thin and the auricular septum is deficient, being represented by a few strands of tissue which cross the cavity on the posterior wall. The auriculo-ventricular, aortic, and pulmonary valves are normal. The Eustachian valve guarding the entrance of the inferior vena cava is normal, but the Thebesian valve guarding the entrance of the coronary sinus is larger than normal, the opening of the sinus being larger than the opening for the inferior vena cava. The auricular walls average 0-5 mm. in thickness and the ventricular walls 2-5 mm.
The bifid apex is a condition which may appear with or without grave anomalies, and is normal to the dugong. In the 5mm. embryo, when the primary auricular and ventricular septa are forming, rapid downgrowth of the apices of the ventricles takes place so that the interventricular groove is distinct. Obliteration of this deep groove takes place in the 11 mm. stage by development downwards of the embryonic apex (Abbott °15). Mall (712) maintains that persistence of the bifid apex is due to absence of the muscular vortex normally present at the apex. A deeply bifid apex occurred in three of Théremin’s 106 cases, and in four of Abbott’s 631 cases of abnormal hearts.
The auricular septum in this heart is represented only by a few strands which cross the cavity in the dorsal wall, so that the heart is virtually a case of “cor biventriloculare.” It is probable that this is an example of a huge persistent ostium secundum (foramen ovale) which has escaped closure through failure of development of the septum secundum. Such an anomaly is rare and points to the possibility of a disturbance occurring after the appearance of the septum primum (4 mm. stage) and before the appearance of the septum secundum (8 mm. stage).
In a series of 681 cases, Abbott reports 14 cases of rudimentary auricular septum and five cases of complete absence, and states that persistence of the left superior vena cava belongs to the same complex.
Fig. 4. Circulatory system. C.C. common carotid; S.A., S.V. subclavian artery and vein; P.A., P.V. pulmonary artery and vein; D. diaphragm; D.R. diaphragmatic recess posterolateral to pericardium; S.R. suprarenal; K. kidney; U. ureter; U.A. umbilical artery; I.M.A. inferior mesenteric artery; © recurrent laryngeal nerves; C.V. vessel communicating posterior aspect of the two systemic arches. The vessel is shown anteriorly for clearness.
The internal jugular and subclavian veins of the right side form a vena cava superior which enters the right auricle. The corresponding vessels on the left form a vena cava superior which passes anterior to the left systemic arterial arch to forma dilated coronary sinus which enters the right auricle. The fused pulmonary veins from the right lung enter the left auricle as a single trunk near its upper border. The inferior vena cava and azygos system are normal. The phrenic and vagus nerves are also normal in their course and relations in the neck and thorax.
The anomaly presented by the great veins is due to a persistence of the embryonic left superior vena cava and left duct of Cuvier with consequent replacement of the coronary sinus. This arrangement is normal in many mammals (Robinson °17). The left superior intercostal vein entered the left superior vena cava and the great cardiac vein entered the coronary sinus, but there was no trace of a left vena azygos major, neither was there a left lung root to assist in the task of ascribing any definite réle to any minute anastomosis. The anastomosis between the left and right superior venae cavae in the neighbourhood of the thymus was not well marked.
The great arteries of the thorax present a condition hitherto undescribed. From the left ventricle (fig. 4) arises a right systemic arch which runs upwards and slightly to the right, arches backwards over the root of the right lung, and gives off in turn the left carotid, right carotid and right subclavian vessels. From the right ventricle ascends a left systemic trunk which is anterior and to the left of the vessel arising from the left ventricle. As it arches upwards and to the left it gives off a right pulmonary artery which passes dorsal to the ascending portion of the right systemic arch; it then continues as a welldefined arch, gives off the left vertebral and left subclavian arteries, and descends to join the right arch to form the descending aorta at the level of the upper border of the fifth dorsal vertebra. The calibre of the left arch is much greater than that of the right arch, and the terminal portion of the left arch lies immediately dorsal to the fistula between the trachea and oesophagus (fig. 3). A small communicating vessel of great interest runs from the posterior aspect of the ascending portion of the right arch to the posterior aspect of the ascending portion of the left arch. The abnormal termination of the abdominal aorta is clearly shown in fig. 4, the inferior mesenteric artery arising as a branch of the single (left) umbilical artery.
Rathke’s classical description of the fate of the embryonic aortic arches, as modified by Boas (1887), is shown (fig. 5) for the sake of comparison.
A comparison of fig. 6 with fig. 4 will indicate the nature of the explanation tentatively adduced to elucidate the arrangement of the primitive aortic arches in this foetus. The third arch on each side forms the commencement of the internal carotids. The fourth arch on the right side forms the transverse part of the right systemic arch. The sixth arch on the right persists as far as the outgrowth which forms the right pulmonary artery. The sixth arch on the left persists in toto as ductus arteriosus to form the transverse part of the left systemic arch. The small vessel communicating the ascending portions of the two great vessels arising from the heart may be regarded as a persistent fifth left arch, a persistent fourth left arch, or a vessel comparable to the small artery which is depicted by Tandler (’02), as an “‘arterien insula” in relation to the aortic arches. The proofs given by Evans (’09) that all the arteries develop originally as well-defined capillary networks permits of a chance anastomosis persisting along with the definitive arches. Most anatomists would regard this small vessel as a persistent fourth arch because the fifth arch of van Bemmelen (1886) is a transitory structure. Quite as legitimately one might argue that since the fourth left arch usually persists as the definitive aortic arch, this vessel cannot be the fourth arch. There is no certain means of ascertaining the identity of this vessel as no trace of the nerve of the fifth arch, the nervus post-trematicus of the superior lanyngeal branch of the vagus (Elze ’07) has been recorded in embryos of more than 20 mm.
Fig. 5. The aortic arches and their transformations (after Rathke). 1. Ceratodus; 2. Salamander; 3. Triton; 4. Frog; 5. Lizard; 6. Bird; 7. Mammal.
Fig. 6. Transformation of the aortic arches (cf. fig. 4). Ao. aorta; P. pulmonary; S. subclavian; V. vertebral; recurrent laryngeal nerves.
The work of Bremer (’02, ’08) has shown the incorrectness of the conventional diagrams (fig. 5) in which both definitive pulmonary arteries are shown as sharing equally in the proximal parts of the left and right sixth arches, for in no mammal is this true. Man and most of the other mammals have a right pulmonary artery which is of this nature, but the left pulmonary artery is merely the original pulmonary outgrowth of that side, the corresponding proximal portion of its arch having been assimilated in the pulmonary trunk. In this specimen, in accordance with the absence of the left lung there is no trace of the left pulmonary arterial outgrowth from the left sixth arch. The positions of the recurrent laryngeal nerves are shown in fig. 6 and they confirm the tentative explanation of the fate of the aortic arches in this foetus.
The subclavian of the right side is normal and represents the seventh segmental artery with the proximal part of the vertebral as its posterior primary division. The left subclavian artery has not moved cranially so far as the right, so that it retains its attachment to the dorsal aorta in the neighbourhood of the dorsal root of the sixth arch; and the vertebral, by absorption of the proximal part of the seventh segmental artery arises directly from the dorsal root of the sixth arch. This independent origin of the vertebral artery is comparable to the anomalous origin of the vertebral from the arch of the aorta (Thane 1896). Whereas in the latter case the vertebral artery usually enters the foramen transversarium of the fifth cervical instead of the sixth, in this case the vertebral entered the sixth.
The surveys of Tiedemann (1829), Peacock (1866), Turner (1862) and Abbott (715) provide but few cases in any way comparable to the above, and no identical case has been found in the literature. The cases presenting a resemblance to the one under discussion can be arranged in three groups (Turner 1862) :—
1. ‘“‘Cases presenting atrophy of the fourth left aortic arch between the origins of the common carotid and subclavian arteries, with persistence of the sixth arch.”
Greig’s (1852) famous case was that of a foetus in which two arteries arose from the base of the heart; one, the aorta, ascended to the right and divided into left common carotid, right common carotid and right subclavian; the other, the pulmonary, gave off a branch to each lung and then continued onwards into the descending aorta which received its supply of blood solely from this source. The left subclavian arose from the latter trunk after it had given off the branches to the two lungs. The ventricular septum was also deficient in its upper part. Breschet reported a case in which the left subclavian arose from the pulmonary artery, but no account is given of the condition of the aorta.
2. “Cases presenting atrophy of the fourth left aortic arch beyond the origin of the subclavian.”
This group includes those cases of coarction of the aorta which are divided into two sub-groups :—
(a) A diffuse narrowing of the aorta at the isthmus [Bonnet’s (’03) infantile type]. In some of these cases in which the stenosis is marked, the circulation in the lower part of the body is maintained by a large patent ductus arteriosus
Fig. 7. Aortic system of His’ embryo Si. 12-5 mm. Ao. aorta; C.C. common carotid; V. vertebral artery; P. pulmonary trunk; R.P. and L.P. right and left pulmonary arteries.
through which the descending aorta appears to be a direct continuation of the pulmonary artery.
(6) A more or less abrupt construction of the aorta at or near the insertion of the ductus arteriosus (Bonnet’s adult type). Here, where coarction is marked, and has lasted some time, the establishment of an extensive collateral circulation lends distinctive features to the case. Amongst 212 cases collected by Peacock, Bonnet and Abbott, fifteen cases were of a marked infantile type so that the descending aorta was supplied by a large patent ductus arteriosus. The first case of complete coarction was that reported by Steidele (1826).
8. “Cases presenting transference of the left subclavian at its origin from the fourth to the sixth aortic arc.
In the case recorded by Holst (1886) the vertebral was given off at the place of junction. A closely similar case was reported by. Hildebrand (1842), but the left vertebral arose from the left common carotid.
Thus this particular case is unique in the combination which it presents of a persistent right systemic arch, patent ductus arteriosus with marked coarction of the fourth left arch, and a small communicating vessel of unknown origin, Still further is it complicated by the absence of the left pulmonary artery.
The 12-5 mm. embryo described by His (fig. 7) presents a right arch of small calibre, a fourth left arch of large calibre and a patent ductus. The obliteration of the fourth left arch and of that portion of the dorsal aorta between the dorsal roots of the fourth and sixth arches on this side would give rise to a condition closely resembling that in the foetus described. Moreover, the relative calibre of the right and left systemic arches in this embryo is approximately the same as in the foetus.
D. Abdomen and Pelvis
The anterior abdominal wall is poorly developed. The umbilical vein is normal but the single umbilical artery is disposed to the left, there being no trace of the right umbilical artery to the right of the empty bladder. The viscera are normal in disposition, but the inferior mesenteric artery arises from the left umbilical artery below the bifurcation of the aorta which occurs at the level of the third lumbar vertebra (fig. 4).
The rectum (fig. 8), distended with meconium, reaches to within 1-5 mm. of the surface in the region of the imperforate anus. The viscus presents a well-marked ampulla of 6 mm. diameter which ends by a small canal of less than 1mm. diameter in a cul-de-sac. There is no fistulous communication between the rectum and the urethra. The main valve of Houston is welldeveloped at the level of the recto-vesical fold of peritoneum.
The statistics of atresia ani et recti in its various modifications, as collected by Curling (1876), Spriggs (712) and Keith (’10), show that the commonest anomaly is imperforate anus with recto-urethral fistula opening in the region of the termination of the prostatic urethra. More than 60 per cent. of Keith’s male cases fall into this group whereas only seven cases out of 54 present the condition represented in fig. 8, i.e. atresia ani simplex with the rectum ending blindly at the proctodaeum.
The views of the fate of the embryonic cloaca are still conflicting. The generally-accepted view of the division of the cloaca, by down growth of a uro-rectal septum into a ventral urogenital and a dorsal rectal portion, is strongly opposed by the comparative and embryological evidence brought forward by Wood-Jones (’04), who maintains that the cloaca forms the urogenital sinus only, the rectum being developed as a new outgrowth (postallantoic gut) from the primitive hind gut. Recent work by Pohlman (’11), Buchanan and Frazer (’18) support the former view, and such a view is apparently sufficient to explain the case represented in fig. 8. But this view fails to explain the commonest condition—that in which recto-urethral fistula accompanies imperforate anus. Retterer (1890) describes the separation of the cloaca by two lateral cloacal folds which grow medially and fuse. Zuckerkandl (’08) states that the division of the cloaca is accomplished by three folds, a median (uro-rectal) and two lateral, which eventually obliterate the triradiate space between their free borders. Either of these two views, by supposing incomplete fusion of the septa, will explain the persistence of a communication between the two derivatives of the cloaca. Such a view would necessitate a wide degree of variation in the position of the fistulous communication. According to Wood-Jones, the recto-urethral fistula is a persistence of the cloacal anus of the early embryo—comparable to the cloacal anus of Echidna. This cloacal anus which is doomed to be exchanged for the definitive anus of the adult is bounded cranially by that sheet of recto-cloacal muscle which can be recognised in every adult pelvis as the recto-urethral muscle, and marks the most caudal limit of the peritoneal cavity in the recto-vesical pouch, which is of great depth in the foetus. In the adult, the recto-urethralis muscle consists of longitudinal fibres of the rectum which sweep downwards and forwards to the apex of the prostate and reascend in the muscular coat of the prostatic urethra (Elliot Smith ’08). The main rectal valve of Houston (fig. 8) serves to demarcate the site of this early embryonic communication.
Fig. 8. Imperforate anus. B. bladder; U. ureter; P.R. prostate; P. peritoneal cavity; R. rectum; V. main valve of Houston.
Thus this case of atresia ani serves to illustrate the need for a comprehensive examination of the development of the hind-end of the body.
The testicles are situated at the internal abdominal rings and their progress through the abdominal wall has commenced, as is shown by the extension of the gubernacula along the inguinal canals. The right kidney, suprarenal and ureter are normal, but there is no trace of the left kidney, left ureter or left renal vessels. The left suprarenal is present. Both suprarenals and the right kidney are free from any abnormality of size and position, though the left suprarenal exhibits some alteration in shape owing to the absence of the left kidney. The trigonum of the bladder presents a patent right ureteric orifice but there is no trace of the left. The urethra and prostate are normal.
The absence of one kidney is a matter of interest to the surgeon and its occurrence is as frequent as that of imperforate anus, roughly one in 5000. Previous to the masterly analysis of Sir Henry Morris, the observers failed to differentiate clearly between entire absence of one kidney, congenital atrophy of one kidney and fusion of two kidneys. The statistics of Thompson (’18) and Gladstone (’14) show that the left kidney is absent about twice as often as the right, and that deformities of the urogenital organs are not the only congenital defects which may accompany the condition. The corresponding _ suprarenal is present in 90 per cent. of the cases in which one kidney is absent.
The right kidney in this case is normal in size, position, and blood supply, definitely disproving the statement frequently reiterated that a single kidney always exceeds the normal in size (Craven Moore, Gladstone). As Morris says, “an unsymmetrical kidney, like a renal mass composed of two kidneys fused together, may be either of much greater magnitude than the normal kidney, or not at all in excess of the normal.’”? The question of hyperplasia versus hypertrophy of the glomerular elements has been discussed by Galeotti and Santa (’02), Eckardt (1888), Moore (’06) and Boycott (’10—’14).
The Wolffian duct reaches the cloaca in the 4mm. embryo (Mall) and presents no traces of the renal bud. The renal bud appears near the termination of the Wolffian duct in the 5mm. embryo. Thus the upgrowth of the renal bud to form the ureter and kidney occurs between the 4-5 and 5 mm. stage and proceeds so rapidly that the hilum of the kidney reaches its adult position by the end of the second month. Suppression of one kidney appears to be due to failure of the outgrowth from the hind end of the Wolffian duct, with the result that the ureteric orifice is absent although the testis, vas, and ejaculatory ducts may be normal. Gladstone says that “congenital absence of the kidney and ureter is in all probability due to an arrest in the development of the distal end of the Wolffian duct and to a failure in its union with the cloaca.” This explanation will not account for the presence of a normal testis and vas deferens in this case.
As Felix (’12) has shown there is no close parallel between the segmentation of the mesonephros and the somatic segments; the condition is one of marked dysmetamerism. In the 2-5 mm. embryo the mesonephros extends from the second to the fourth thoracic segments with eight well-developed tubules. In the 4-25 mm. embryo the mesonephros extends from the seventh cervical to the second lumbar segment and contains 28 tubules. Thus the mesonephros grows both caudally and cranially. The cranial growth is completed in an embryo of 5-3 mm. (at the fifth cervical) and the caudal growth in an embryo of 7 mm. (at the third lumbar). Immediately the cranial growth is completed, degeneration sets in at the cranial end, so that ultimately the mesonephros is limited to the lumbar segments.
Fig. 9. Reconstruction of the arteria umbilicalis in a human embryo 5:3 mm. long. The umbilical artery is seen to arise from the aorta by three roots, a visceral and two parietal (after Felix, 1910). Ao. aorta; U.A. umbilical artery; H.@. hind gut; Cl. cloaca; A. allantois; W.D. Wolffian duct; R.B. renal bud; N. notochord; S.C. spinal cord.
The ureteric bud appears at first between the 4-5 mm. and 5-3 mm. stage on the dorsal wall of the Wolffian duct and then inclines more and more towards its medial surface (Felix ’12). This secondary medial position is of importance from the comparative point of view, since it persists throughout life in the marsupials and in these forms is an obstacle to the union of the two Miillerian ducts (Keibel 1896). At this stage (fig. 9) the Wolffian duct lies between the visceral (primary) and parietal (secondary) roots of the umbilical artery. Persistence of the visceral root will offer a serious hindrance to the development of the ureteric bud for, as is well shown by the clinical history of arterial aneurism, every tissue has to give way to an expanding artery. Therefore it is suggested that persistence of the primary visceral root of the umbilical artery may prevent the development of the renal bud. This still leaves one faced with the difficulty of accounting for the persistence or late disappearance of this visceral root.
In the 1-38 mm. embryo (Kroemer-Pfannenstiel) the umbilical artery arises by several roots in common with the vitelline arteries at the level of the fourth cervical segment, and migrates caudally to reach the fourth lumbar segment at the 5-3mm. stage when both visceral (primary) and parietal (secondary) roots exist for a short time coincidently, so as to form an arterial ring enclosing the Wolffian duct (Keibel and Elze ’08). Thus, during their caudal migration, the umbilical arteries must have passed over those segments, eighth and ninth thoracic, which show complete suppression on the left side, as displayed by the absence of the two half vertebrae, eighth and ninth ribs, and eighth and ninth thoracic nerves. One is tempted to suggest that this foetus, somewhere near the 4-5 mm. stage, was subjected to an arrest in development in the precartilaginous stage which led to defective development of the heart, great vessels and lungs, defective development of the left half of the eighth and ninth thoracic segments, defective development of the left kidney, and defective development of the cloacal membrane. The obvious objection to the above is the disposition of the vascular, lung, renal and upper limb anomalies to the left side of the body, whereas the umbilical artery is defective on the right side. The primitive defect of segmentation may be closely associated with an exaggeration of that degree of asymmetry of the embryonic axis which von Baer described almost a hundred years ago as a normal characteristic of the embryo.
My thanks are due to Mr Bendit, of University College Hospital, who procured the specimen: to my colleagues in the Anatomy, Radiographic and Gynaecological Departments who have been my ready helpers; and to Mr Gerrard, of the Slade School of Art, who has devoted much labour to the preparation of the wood-cuts.
Addendum
Opportunity has recently been afforded for the examination of a full-term male baby aged three weeks of the same parentage. The baby presents buphthalmia, bilaterally symmetrical nevi of the naso-facial angle and hypospadias. This confirms the ancient dictum that the mother who gives birth, to a merosomatous monster is more likely to give birth - to another merosomatous monster than to a normal child. 94 H. A. Harris
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