Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

We have studied a four-generation family with features of Weyers acrofacial dysostosis, in which the proband has a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyl...

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Bibliographic Details
Main Authors: Howard, T D, Guttmacher, A E, McKinnon, W, Sharma, M, McKusick, V A, Jabs, E W
Format: Artigo
Language:Inglês
Published: 1997
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716089/
https://ncbi.nlm.nih.gov/pubmed/9399901
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