Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother
- 1 August 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (4) , 925-928
- https://doi.org/10.1002/ajmg.1320300408
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 suprarbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.Keywords
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