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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2012
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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. |
format | Online Article Text |
id | pubmed-3352611 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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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