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].
|Original language||English (US)|
|Number of pages||2|
|Journal||American Journal of Medical Genetics|
|State||Published - Jan 10 1997|
- autosomal recessive inheritance
- congenital aganglionic megacolon
ASJC Scopus subject areas