Familial occurrence of gastroschisis. Four new cases and review of the literature

Am J Dis Child. 1979 May;133(5):514-7.


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.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Muscles / abnormalities*
  • Abdominal Muscles / embryology
  • Child, Preschool
  • Female
  • Hernia, Inguinal / genetics
  • Hernia, Umbilical / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree