Familial abdominal wall defects

Abstract

We report 2 families, each having multiple sibs with abdominal wall defects. In family 1, normal parents gave birth to identical (monochorionic, diamniotic) twins. This is the first reported case of gastroschisis occurring in monozygotic twins. In family 2, a normal mother gave birth to a son with omphalocele. Two subsequent pregnancies with a different husband resulted in a stillborn girl with partial atresia of the colon and a liveborn girl with gastroschisis. In neither case were there any associated anomalies. In neither of the 2 families was there consanguinity or history of other abdominal wall defects. The familial occurrence of these defects suggests that 1) multifactorial determination should be considered in at least some cases of abdominal wall defects, 2) the bowel atresias that occasionally accompany gastroschisis may also have a genetic (multifactorial) cause, and 3) some cases of gastroschisis and omphalocele may have the same genetic cause.

Recreational Drug Use: A Major Risk Factor for Gastroschisis?

“…Gastroschisis occurrence in a set of monozygotic twins has been reported with a separate report of a pair of siblings, one with gastroschisis and the other with exomphalos (Hershey et al 1989). Data from the Californian Birth Defects Registry (1988Registry ( to 1990 reported that in six (4.7%) out of 127 extended pedigrees of families with a case of gastroschisis more than one relative was affected (Torfs and Curry, 1993).…”

Familial recurrence of gastroschisis

“…b Diagnosed as ruptured omphalocele; only intestine protruded through the defect; no other anomalies have been detected. It seems likely that this boy had a gastroschisis, too [21].…”

“…Data on the racial background of affected mothers were given in 13 instances, with 10 of them white [5,21,42,46,47], 1 Hispanic [42], 1 Chinese [44], and 1 of a nonwhite racial background, not otherwise specified [5]. This distribution corresponds with the known preponderance of gastroschisis among white people [52].…”

“…Maternal and paternal histories were uneventful among 6 familial gastroschises, and consanguinity was ruled out in another 6. In the maternal line of 1 family, 3 instances of unspecified muscular dystrophy were mentioned [21]. Other family histories revealed 1 esophageal obstruction [35] and 3 abdominal hernias [23,35,40].…”

“…Although the numbers were small, a similar pattern could be discerned among familial gastroschisis cases. Six out of 11 mothers smoked during pregnancy [21,23,42,46,47]; 2 of them admitted the additional use of recreational drugs [21,42], and 1 took Acetaminophen with codeine occasionally [42]. One mother has been addicted to heroin [44].…”