TY - JOUR
T1 - Hirschsprung disease, postaxial polydactyly, and atrial septal defect
AU - Nowaczyk, M. J M
AU - James, A. G.
AU - Superina, R.
AU - Siegel-Bartelt, J.
PY - 1997/1/10
Y1 - 1997/1/10
N2 - 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].
AB - 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].
KW - autosomal recessive inheritance
KW - congenital aganglionic megacolon
UR - http://www.scopus.com/inward/record.url?scp=0031021225&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031021225&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19970110)68:1<74::AID-AJMG14>3.0.CO;2-L
DO - 10.1002/(SICI)1096-8628(19970110)68:1<74::AID-AJMG14>3.0.CO;2-L
M3 - Article
C2 - 8986280
AN - SCOPUS:0031021225
VL - 68
SP - 74
EP - 75
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -