Hirschsprung disease, postaxial polydactyly, and atrial septal defect.
We report on an infant girl with Hirschsprung disease, postaxial polydactyly, and atrial septal defect who was born to a consanguineous Iraqi couple. A similar condition of aganglionic megacolon, postaxial polydactyly, and ventricular septal defect with a presumed autosomal recessive (AR) inheritance was reported by Laurence in two sibs [Laurence et al.; J Med Genet 12: 334-338, 1975].
Nowaczyk
M J
MJ
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
James
A G
AG
Superina
R
R
Siegel-Bartelt
J
J
D000015:Abnormalities, Multiple / Q000473:pathology*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000473:pathology*; D006627:Hirschsprung Disease / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D017689:Polydactyly / Q000473:pathology*