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May 1979

Familial Occurrence of Gastroschisis: Four New Cases and Review of the Literature

Author Affiliations

From the Section of Clinical Genetics, Department of Oral Medicine, College of Dental Medicine (Drs Salinas and Jorgenson), and the Department of Surgery, College of Medicine (Dr Othersen), Medical University of South Carolina, Charleston; and the Center for Genetic Counseling and Birth Defects (Drs Bartoshesky and Feingold), and the Division of Pediatric Surgery (Dr Leape), Tufts-New England Medical Center, Boston.

Am J Dis Child. 1979;133(5):514-517. doi:10.1001/archpedi.1979.02130050058011

• 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.

(Am J Dis Child 133:514-517, 1979)

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