Unusual manifestation of Marden-Walker syndrome

Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neur...

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Detalles Bibliográficos
Autores principales: Taksande, Amar M., Vilhekar, K. Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491307/
https://www.ncbi.nlm.nih.gov/pubmed/23162309
http://dx.doi.org/10.4103/0971-6866.100798
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author Taksande, Amar M.
Vilhekar, K. Y.
author_facet Taksande, Amar M.
Vilhekar, K. Y.
author_sort Taksande, Amar M.
collection PubMed
description Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.
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spelling pubmed-34913072012-11-16 Unusual manifestation of Marden-Walker syndrome Taksande, Amar M. Vilhekar, K. Y. Indian J Hum Genet Case Report Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3491307/ /pubmed/23162309 http://dx.doi.org/10.4103/0971-6866.100798 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Taksande, Amar M.
Vilhekar, K. Y.
Unusual manifestation of Marden-Walker syndrome
title Unusual manifestation of Marden-Walker syndrome
title_full Unusual manifestation of Marden-Walker syndrome
title_fullStr Unusual manifestation of Marden-Walker syndrome
title_full_unstemmed Unusual manifestation of Marden-Walker syndrome
title_short Unusual manifestation of Marden-Walker syndrome
title_sort unusual manifestation of marden-walker syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491307/
https://www.ncbi.nlm.nih.gov/pubmed/23162309
http://dx.doi.org/10.4103/0971-6866.100798
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