Types
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)
Etiology
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)
Associations
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)
References
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