Duodenal atresia (DA) is not uncommon, either as an isolated anomaly or associated with trisomy 21, malrotation, or cardiac anomalies. It may be diagnosed on antenatal ultrasound by a “double-bubble” sign, which typically persists after birth on a plain abdominal radiograph. DA as a familial association is rare but has been reported with or without other associated anomalies. We report DA in two siblings of nonconsanguineous parents, one case occurring with an annular pancreas in association with gestational diabetes. These two cases suggest possible genetic and environmental components in the aetiology of this anomaly.
Duodenal atresia Familial Annular pancreas
This is a preview of subscription content, log in to check access.
Aberg A, Westbom L, Kallen B (2001) Congenital malformations among infants whose mothers had gestational diabetes or pre-existing diabetes. Early Hum Dev 61:85–95CrossRefPubMedGoogle Scholar
Best LG, Wiseman NE, Chudley AE (1989) Familial duodenal atresia: a report of two families and review. Am J Med Genet 34:442–444PubMedGoogle Scholar
Boyden EA, Cope JG, Bill AH (1967) Anatomy and embryology of congenital intrinsic obstruction of the duodenum. Am J Surg 114:190–202PubMedGoogle Scholar
Celli J, van Beusekom E, Hennekam RCM et al (2000) Familial syndromic oesophageal atresia maps to 2p23-p24. Am J Hum Genet 66:436–444CrossRefPubMedGoogle Scholar
Gourevitch A (1971) Duodenal atresia in the newborn. Ann Roy Coll Surg Eng 48:141PubMedGoogle Scholar
Lemire EG, Evans JA, Giddins NG, Harman CR, Wiseman NE (1996) A familial disorder with duodenal atresia and tetralogy of Fallot. Am J Med Genet 66:39–44CrossRefPubMedGoogle Scholar
Louw JH, Barnard CN (1955) Congenital intestinal atresia; observations on its origin. Lancet 2:1065–1067CrossRefGoogle Scholar
Moore SW, de Jongh G, Bouic P, Brown RA, Kirsten G (1996) Immune deficiency in familial duodenal atresia. J Pediatr Surg 31:1733–1735CrossRefPubMedGoogle Scholar
Noblett HR (1970) Anatomical study of duodenal atresia. Proceedings of the centenary meeting of the Royal Children’s Hospital, MelbourneGoogle Scholar
Pequet AR, Watson EH (1959) Duodenal atresia occurring in siblings. Univ Mich Med Bull 25:363–370PubMedGoogle Scholar
Pumberger W, Birnbacher R, Pomberger G, Deutinger J (2002) Duodeno-jejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery: a hereditary compound structure in duodenal atresia? Am J Med Genet 109:52–55CrossRefPubMedGoogle Scholar
Schaefer-Graf UM, Buchanan TA, Xiang A et al (2000) Patterns of congenital anomalies and relationship to initial maternal fasting glucose levels in pregnancies complicated by type 2 and gestational diabetes. Am J Obstet Gynecol 182:313–320PubMedGoogle Scholar
Tandler J (1900) Zur Entwickelungsgeschichte des menschlichen Duodenum in fruhen Embryonalstadien. Morphol Jahrb 29:187–216Google Scholar