Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.
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.
Department of Pediatrics, Harbor-UCLA Medical Center, Torrance 90502.
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H
Bachman
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RD
Clark
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Salahi
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D002490:Central Nervous System / Q000002:abnormalities*; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D006831:Polyhydramnios; D011247:Pregnancy; D013577:Syndrome