Hirschsprung disease, postaxial polydactyly, and atrial septal defect

Am J Med Genet. 1997 Jan 10;68(1):74-5. doi: 10.1002/(sici)1096-8628(19970110)68:1<74::aid-ajmg14>3.0.co;2-l.

Abstract

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].

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Female
  • Heart Septal Defects, Atrial / pathology*
  • Hirschsprung Disease / pathology*
  • Humans
  • Infant, Newborn
  • Polydactyly / pathology*