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#