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Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother.

作者信息

Urioste M, Valcarcel E, Gomez M A, Pinel I, Garcia de León R, Diaz de Bustamante A, Tebar R, Martinez-Frias M L

机构信息

Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Facultad de Medicina, Universidad Complutense, Madrid, Spain.

出版信息

Am J Med Genet. 1988 Aug;30(4):925-8. doi: 10.1002/ajmg.1320300408.

DOI:10.1002/ajmg.1320300408
PMID:2973234
Abstract

This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the presence of cyclopia and a supraorbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.

摘要

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[Diagnosis of holoprosencephaly with cyclopia in the fetus].[胎儿独眼畸形全前脑畸形的诊断]
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