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].
| Original language | English (US) |
|---|---|
| Pages (from-to) | 74-75 |
| Number of pages | 2 |
| Journal | American Journal of Medical Genetics |
| Volume | 68 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 10 1997 |
Keywords
- autosomal recessive inheritance
- congenital aganglionic megacolon
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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Cite this
Nowaczyk, M. J. M., James, A. G., Superina, R., & Siegel-Bartelt, J. (1997). Hirschsprung disease, postaxial polydactyly, and atrial septal defect. American Journal of Medical Genetics, 68(1), 74-75. https://doi.org/10.1002/(SICI)1096-8628(19970110)68:1<74::AID-AJMG14>3.0.CO;2-L