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duodenal atresia


Friday 4 February 2005


- duodenal mucosal atresia (duodenal membranous atresia) by mucosal diaphragm (web)
- blind ends duodenal atresia

  • blind ends separated by a fibrous cord
  • blind ends separated by a V-shaped mesenteric defect
  • blind ends with apple peel appearance
  • multiple atresia (string of suasages appearance)


- familial duodenal atresia (MIM.223400)
- syndromic duodenal atresia

  • Down syndrome (MIM.190685)
  • oculodigitoesophagoduodenal syndrome (MIM.164280)
  • Fryns syndrome (MIM.229850)
  • Townes-Brocks syndrome (TBS) (MIM.107480)
  • Miller-Dieker lissencephaly syndrome (MIM.247200)

- duodenal atresia with biliary atresia associated with facial, thyroid and auditory apparatus abnormalities (16957470)


- complex intestinal malformations

  • apple peel small bowel syndrome (MIM.243600)
  • familial intestinal polyatresia syndrome (FIPA) (MIM.243150).
  • duodenojejunal atresia associated with malrotation, volvulus, absent dorsal mesentery (absent parietal attachment of the mesentery) and absent superior mesenteric artery (MIM.606894)

- proximal jejunal perforations (14523829)

Case records

- Case 12697: Duodenal atresia with duodenal dilatation in multiple intestinal atresia syndrome (MIAS)


- Galan-Gomez E, Sanchez EB, Arias-Castro S, Cardesa-Garcia JJ. Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome. Eur J Med Genet. 2007 Mar-Apr;50(2):144-8. PMID: 17321227

- Maegawa GH, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P, Kim J, Taylor G, McNamara PJ. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? Clin Dysmorphol. 2006 Oct;15(4):191-6. PMID: 16957470

- Holder-Espinasse M, Ahmad Z, Hamill J, Pahari A, Misra D, Drake D, Winter RM, Wilson LC. Familial syndromic duodenal atresia: Feingold syndrome. Eur J Pediatr Surg. 2004 Apr;14(2):112-6. PMID: 15185158

- Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet A. 2004 Mar 15;125(3):293-8. PMID: 14994240

- Sajja SB, Middlesworth W, Niazi M, Schein M, Gerst PH. Duodenal atresia associated with proximal jejunal perforations: a case report and review of the literature. J Pediatr Surg. 2003 Sep;38(9):1396-8. PMID: 14523829