title: Familial occurrence of gastroschisis. Four new cases and review of the literature.
abstract: In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.
mesh_terms: D000009:Abdominal Muscles / Q000002:abnormalities* / Q000196:embryology; D002675:Child, Preschool; D005260:Female; D006552:Hernia, Inguinal / Q000235:genetics; D006554:Hernia, Umbilical / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree