Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.
- 1 January 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (1) , 50-52
- https://doi.org/10.1136/jmg.27.1.50
Abstract
We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chromosomes may also have the hydrolethalus syndrome.Keywords
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