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Hirschsprung disease, postaxial polydactyly, and atrial septal defect

✍ Scribed by Nowaczyk, M. J. M.; James, A. G.; Superina, R.; Siegel-Bartelt, J.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 94 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970110)68:1<74::aid-ajmg14>3.0.co;2-l

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✦ Synopsis

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].

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