*193250 VOLVULUS OF MIDGUT
INTESTINAL MALROTATION, FAMILIAL
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documented 8 cases of midgut volvulus in 1 kindred.
The propositus, his 2 sons and 3 daughters, and his
2 grandchildren demonstrated this midgut
malrotation syndrome. The midgut volvulus caused
great discomfort. Six of the affected had undergone
a total of 24 operative procedures to alleviate
problems caused by the malrotation of the midgut.
The clinical course of the 5 sibs showed normal
growth and development followed by the appearance
of abdominal distension, pain, and constipation by
the age of 6 years. The 2 affected grandchildren
died at the age of 4 weeks, one of postoperative
complications to repair the volvulus and the other
from multiple congenital defects. This kindred also
demonstrated a thick disc of fibromuscular tissue
on the antrum of the stomach in 3 of the patients
and major obstetrical abnormalities in 10 of 19
pregnancies produced by the 5 affected sibs.
Carmi et al. (1981)
reported father and daughter with congenital midgut
volvulus and consequent intestinal obstruction,
discovered soon after birth. The father's younger
sister developed intestinal obstruction 2 days
after birth and was found to have atresia of the
ascending colon. The parents of these 2 sibs and a
later-born son of the 'father' were normal by
roentgenographic survey of the gastrointestinal
tract. Budd and Powley
(1988) reported the cases of 2 sibs with small
bowel volvulus and malrotation. Stalker
and Chitayat (1992) described 2 sisters with
congenital midgut volvulus. Both had small
intestinal malrotation. One had gangrene of the
entire small intestine, suggesting that the
intestinal volvulus was late in onset. In the
second sister, the volvulus probably occurred at an
earlier gestational age, causing intestinal
atresia. Both sibs had an unusual facial
appearance: a 'boxy' head, high forehead, frontal
bossing, telecanthus, and long palpebral fissures.
Both parents had normal barium meal roentgenograms,
and they and 2 unaffected sibs had a different
- 1. Budd, J. S.;
Powley, P. H. :
- Small bowel volvulus in two
siblings. Brit. Med. J. 296:
1572 only, 1988.
- 2. Carmi, R.;
Abeliovich, D.; Siplovich, L.; Zmora, E.;
Bar-Ziv, J. :
- Familial midgut anomalies--a
spectrum of defects due to the same
cause?. Am. J. Med. Genet. 8:
PubMed ID : 7246615
- 3. Smith, S. L.
- Familial midgut volvulus.
Surgery 72: 420-426, 1972.
PubMed ID : 5051163
- 4. Stalker, H. J.;
Chitayat, D. :
- Familial intestinal malrotation with
midgut volvulus and facial anomalies: a disorder
involving a gene controlling the normal gut
rotation?. Am. J. Med. Genet.
44: 46-47, 1992.
PubMed ID : 1519649
Clinical Synopsis Entry
Victor A. McKusick : 6/2/1986
mimadm : 6/7/1995
carol : 10/13/1992
carol : 9/18/1992
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989