multiple intestinal atresias

Digital slide

 NCK1-91 : Multiple intestinal atresia syndrome

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