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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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Autores principales: Shetty, Devi C., Singh, Harkanwal P., Kumar, Prince, Verma, Chanchal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352611/
https://www.ncbi.nlm.nih.gov/pubmed/22616035
http://dx.doi.org/10.4103/2156-7514.95432
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author Shetty, Devi C.
Singh, Harkanwal P.
Kumar, Prince
Verma, Chanchal
author_facet Shetty, Devi C.
Singh, Harkanwal P.
Kumar, Prince
Verma, Chanchal
author_sort Shetty, Devi C.
collection PubMed
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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spelling pubmed-33526112012-05-21 Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis Shetty, Devi C. Singh, Harkanwal P. Kumar, Prince Verma, Chanchal J Clin Imaging Sci Case Report 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. Medknow Publications & Media Pvt Ltd 2012-04-28 /pmc/articles/PMC3352611/ /pubmed/22616035 http://dx.doi.org/10.4103/2156-7514.95432 Text en Copyright: © 2012 Shetty DC. http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Shetty, Devi C.
Singh, Harkanwal P.
Kumar, Prince
Verma, Chanchal
Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
title Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
title_full Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
title_fullStr Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
title_full_unstemmed Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
title_short Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
title_sort report of two siblings with overlapping features of ellis-van creveld and weyers acrodental dysostosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352611/
https://www.ncbi.nlm.nih.gov/pubmed/22616035
http://dx.doi.org/10.4103/2156-7514.95432
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