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

Carlos F. Salinas, DDS; Louis Bartoshesky, MD; H. Biemann Othersen Jr, MD; Lucian Leape, MD; Murray Feingold, MD; Ronald J. Jorgenson, DDS
Am J Dis Child. 1979;133(5):514-517. doi:10.1001/archpedi.1979.02130050058011.
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• 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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