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

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

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 s...

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Veröffentlicht in:Journal of clinical imaging science 2012, Vol.2 (1), p.18, Article 18
Hauptverfasser: Shetty, Devi C, Singh, Harkanwal P, Kumar, Prince, Verma, Chanchal
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Case Report
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Singh, Harkanwal P
Kumar, Prince
Verma, Chanchal
description 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.
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Eye diseases
title Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
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