Etiology
multiple intestinal atresias in Feingold syndrome with NMYC haploinsufficiency (15821734)
Associations
apple peel syndrome (12891506)
severe combined immunodeficiency syndrome (SCID) (2240032)
anal imperforation (imperforate anus) (2202215)
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
Moreno, L. A.; Gottrand, F.; Turck, D.; Manouvrier-Hanu, S.; Mazingue, F.; Morisot, C.; Le Deist, F.; Ricour, C.; Nihoul-Fekete, C.; Debeugny, P.; Griscelli, C.; Farriaux, J.-P. : Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am. J. Med. Genet. 37: 143-146, 1990. PubMed ID : 2240032
Shen-Schwarz, S.; Fitko, R. : Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis. Am. J. Med. Genet. 36: 451-455, 1990. PubMed ID : 2202215