Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis.

ABSTRACT: Skeletal dysplasias are a heterogenous group of disorders combining abnormalities in the skull and other skeletal bones. Weyers acrofacial dysostosis also known as Weyers acrodental dysostosis was first described in 1952, by Weyers, as a postaxial polydactyly, which had features distinct from, yet some in common with the Ellis-van Creveld Syndrome (EvC). Both the syndromes have been mapped to the same chromosome, 4p16. The cases reported here highlight the overlapping features of both syndromes, which are dissimilar in mode of inheritance and phenotypic severity, emphasizing the need for genetic analysis, to categorize these conditions.

SUBMITTER: Shetty DC 

PROVIDER: S-EPMC3352611 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature