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Dandy‐Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome
Author(s) -
Morava Eva,
Adamovich K.,
Czeizel A. E.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03289.x
Subject(s) - polydactyly , medicine , hydrocephalus , dandy–walker syndrome , dysostosis , variable expression , anatomy , congenital disease , pediatrics , surgery , biology , genetics , gene
Hydrolethalus syndrome consists of hydrocephalus, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality. It was first described in Finland, and only a few other cases outside Scandinavia are known. We report the first Hungarian patient who displayed many signs of the syndrome but had no cleft lip and visceral abnormalities. This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy‐Walker malformation with polydactyly may be a manifestation of the hydrolethalus syndrome.