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intestinal atresia

HP:5541

Localization

- duodenal atresia
- jejunal atresia
- ileal atresia

Types

- type1: mucosal atresia (membranous atresia) by mucosal diaphragm (web)
- type 2 and 3: blind ends (blind type atresia)

  • type 2: blind ends separated by a fibrous cord (cord type atresia)
  • type 3a: blind ends separated by a V-shaped mesenteric defect
  • type 3b: blind ends with apple peel appearance
  • type 4: multiple intestinal atresias (string of sausages appearance)

Associations - Etiology

- fetal intestinal ischemia

- genetic diseases

See also

- digestive malformations

- Atresias

References

- van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7. PMID: 15821734

- Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C, Cartier L, Desilets V, Cutz E, Hansen IL, Riley P, Polychronakos C. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia. 2004 Dec;47(12):2160-7. PMID: 15592663

- 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