100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH
URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM
Alternative
titles; symbols
PRUNE BELLY SYNDROME
table OF
CONTENTS
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TEXT
This condition was first described by Frolich
(1839). The appellation 'prune belly syndrome'
is descriptive because the intestinal pattern is
evident through the thin, lax, protruding abdominal
wall in the infant (Osler,
1901). (Osler did not use the term 'prune
belly.' His article on this subject and one 'on a
family form of recurring epistaxis, associated with
multiple telangiectases of the skin and mucous
membranes'--see 187300--appeared
successively in the November 1901 issue of the
Johns Hopkins Hospital Bulletin. Osler wrote: 'In
the summer of 1897 a case of remarkable distension
of the abdomen was admitted to the wards, with
greatly distended bladder, and on my return in
September, Dr. Futcher, knowing that I would be
interested in it, sent for the child.') The full
syndrome probably occurs only in males (Williams
and Burkholder, 1967). Multiple cases (of the
full syndrome) in families have rarely been
reported, and the mode of inheritance, indeed
whether this is a mendelian condition, is still
unclear. Autosomal recessive inheritance is
suggested by some reports. In Lebanon, where the
rate of consanguinity is high, Afifi
et al. (1972) described an affected offspring
of first-cousin parents. Garlinger
and Ott (1974) described 2 affected brothers in
1 family and 2 affected male cousins in a second,
and found 3 other reports of affected sibs, 2 of
affected cousins and 1 of concordant male twins. In
the first family the parents were
nonconsanguineous. In the second family the
affected boys' mothers were half-sisters; they had
different maternal grandmothers. If this is an
X-linked recessive, multiple affected brothers
should be observed. If the disorder is due to fresh
dominant mutation in each case, the male-limitation
would be unexpected but not impossible. In British
Columbia, Baird and MacDonald
(1981) found a frequency of 1 in 29,231 live
births. This malformation syndrome is similar to
Poland syndrome (173800)
in being rather consistently reproduced in many
cases but having no clearly demonstrable mendelian
basis. A possibly related syndrome was described in
a single patient by Texter
and Murphy (1968). The triad consisted of
absence of the right testis, kidney, and rectus
abdominis muscle. King and
Prescott (1978) presented evidence to support
the suggestion that the maldevelopment of the
abdominal musculature and abdominal laxity are
secondary phenomena, the primary event being marked
distension of the abdomen in the fetal period
because of obstruction of the urinary tract.
Likewise, Pagon et al.
(1979) suggested that the abdominal muscle
deficiency is secondary to fetal abdominal
distension of various causes, most often perhaps,
urethral obstruction with enlarged bladder. 'Prune
belly' occurs, in the main, as a consequence of
posterior urethral valves; thus the predominance as
a male-limited multifactorial trait. Gaboardi
et al. (1982) reported 2 brothers and a sister
with prune belly syndrome with bilateral
hydronephrosis, megaureter and megabladder, but no
urethral stenosis. A better prognosis than is
usually thought to obtain was suggested by the
series of 19 patients reported by Burke
et al. (1969). Greskovich
and Nyberg (1988) gave a review in which they
stated incorrectly that the term prune belly
syndrome was coined by Osler.
-
SEE ALSO
- Burton and Dillard
(1984) ; Harley et al.
(1972) ; Lee
(1977) ; Monie and
Monie (1979) ; Riccardi
and Grum (1977) ; Roberts
(1956) ; Welch and
Kearney (1974) ; Woodhouse
et al. (1982)
REFERENCES
- 1. Afifi, A. K.;
Rebeiz, J.; Mire, J.; Andonian, S. J.; Der
Kaloustian, V. M. :
- The myopathology of the prune belly
syndrome. J. Neurol. Sci. 15:
153-166, 1972.
PubMed ID : 4400845
- 2. Baird, P. A.;
MacDonald, E. C. :
- An epidemiologic study of congenital
malformations of the anterior abdominal wall in
more than half a million consecutive live
births. Am. J. Hum. Genet. 33:
470-478, 1981.
PubMed ID : 6454342
- 3. Burke, E. C.;
Shin, M. H.; Kelalis, P. P. :
- Prune belly syndrome: clinical
findings and survival. Am. J. Dis.
Child. 117: 668-671, 1969.
PubMed ID : 4239017
- 4. Burton, B. K.;
Dillard, R. G. :
- Prune belly syndrome: observations
supporting the hypothesis of abdominal
overdistention. Am. J. Med.
Genet. 17: 669-672, 1984.
PubMed ID : 6231862
- 5. Frolich, F.
:
- Der Mangel der Muskeln, insbesondere
der Seitenbauchmuskeln. Dissertation:
Wurzburg (pub.) 1839.
- 6. Gaboardi, F.;
Sterpa, A.; Thiebat, E.; Cornali, R.; Manfredi,
M.; Bianchi, C.; Giacomoni, M. A.; Bertagnoli,
L. :
- Prune-belly syndrome: report of
three siblings. Helv. Paediat.
Acta 37: 283-288, 1982.
PubMed ID : 7118560
- 7. Garlinger, P.;
Ott, J. :
- Prune belly syndrome: possible
genetic implications. Birth Defects
Orig. Art. Ser. X(8): 173-180, 1974.
- 8. Greskovich, F.
J., III; Nyberg, L. M., Jr. :
- The prune belly syndrome: a review
of its etiology, defects, treatment and
prognosis. J. Urol. 140:
707-712, 1988.
PubMed ID : 3047433
- 9. Harley, L. M.;
Chen, Y.; Rattner, W. H. :
- Prune belly syndrome.
J. Urol. 108: 174-176, 1972.
PubMed ID : 4402425
- 10. King, C. R.;
Prescott, G. :
- Pathogenesis of the prune-belly
anomaly. J. Pediat. 93:
273-274, 1978.
PubMed ID : 27602
- 11. Lee, S. M.
:
- Prune-belly syndrome in a
54-year-old man. J.A.M.A. 237:
2216-2217, 1977.
PubMed ID : 16145
- 12. Monie, I. W.;
Monie, B. J. :
- Prune-belly syndrome and fetal
ascites. Teratology 19:
111-117, 1979.
PubMed ID : 156413
- 13. Osler, W.
:
- Congenital absence of the abdominal
muscles with distended and hypertrophied urinary
bladder. Bull. Johns Hopkins
Hosp. 12: 331-333, 1901.
- 14. Pagon, R. A.;
Smith, D. W.; Shepard, T. H. :
- Urethral obstruction malformation
complex: a cause of abdominal deficiency and the
'prune belly.'. J. Pediat. 94:
900-906, 1979.
PubMed ID : 156252
- 15. Riccardi, V.
M.; Grum, C. M. :
- The prune belly anomaly:
heterogeneity and superficial X-linkage
mimicry. J. Med. Genet. 14:
266-270, 1977.
PubMed ID : 144797
- 16. Roberts, P.
:
- Congenital absence of the abdominal
muscles with associated abnormalities of the
genito-urinary tract. Arch. Dis.
Child. 31: 236-239, 1956.
- 17. Texter, J. H.;
Murphy, G. P. :
- The right-sided syndrome: congenital
absence of the right testis, kidney and rectus:
urologic diagnosis and treatment.
Johns Hopkins Med. J. 122: 224-228,
1968.
PubMed ID : 4231058
- 18. Welch, K. J.;
Kearney, G. P. :
- Abdominal musculature deficiency
syndrome: prune belly. J.
Urol. 111: 693-700, 1974.
PubMed ID : 4150949
- 19. Williams, D.
I.; Burkholder, G. V. :
- The prune belly syndrome.
J. Urol. 98: 244-251, 1967.
PubMed ID : 4382958
- 20. Woodhouse, C.
R. J.; Ransley, P. G.; Innes-Williams, D. :
- Prune belly syndrome--report of 47
cases. Arch. Dis. Child. 57:
856-859, 1982.
PubMed ID : 6128960
CLINICAL
SYNOPSIS
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Clinical Synopsis Entry
CREATION DATE
Victor A. McKusick : 6/4/1986
EDIT HISTORY
dholmes : 10/6/1997
terry : 2/13/1997
terry : 2/13/1997
carol : 7/12/1996
mimadm : 4/18/1994
carol : 2/13/1994
carol : 8/25/1992
supermim : 3/16/1992
carol : 9/4/1990
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