Mjm. Nowaczyk et al., HIRSCHSPRUNG DISEASE, POSTAXIAL POLYDACTYLY, AND ATRIAL SEPTAL-DEFECT, American journal of medical genetics, 68(1), 1997, pp. 74-75
We report on an infant girl with Hirschsprung disease, postaxial polyd
actyly, and atrial septal defect who was born to a consanguineous Iraq
i couple. A similar condition of aganglionic megacolon, postaxial poly
dactyly, and ventricular septal defect with a presumed autosomal reces
sive (AR) inheritance was reported by Laurence in two sibs [Laurence e
t al.; J Med Genet 12: 334-338, 1975]. (C) 1997 Wiley-Liss, Inc.