Escobar syndrome in three male patients of same family

We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made...

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Autores principales: Amalnath, Deepak S., Subrahmanyam, D. K. S., Sridhar, S., Dutta, T. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144683/
https://www.ncbi.nlm.nih.gov/pubmed/21814339
http://dx.doi.org/10.4103/0971-6866.82188
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author Amalnath, Deepak S.
Subrahmanyam, D. K. S.
Sridhar, S.
Dutta, T. K.
author_facet Amalnath, Deepak S.
Subrahmanyam, D. K. S.
Sridhar, S.
Dutta, T. K.
author_sort Amalnath, Deepak S.
collection PubMed
description We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.
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spelling pubmed-31446832011-08-03 Escobar syndrome in three male patients of same family Amalnath, Deepak S. Subrahmanyam, D. K. S. Sridhar, S. Dutta, T. K. Indian J Hum Genet Case Report We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor. Medknow Publications 2011 /pmc/articles/PMC3144683/ /pubmed/21814339 http://dx.doi.org/10.4103/0971-6866.82188 Text en © 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
Amalnath, Deepak S.
Subrahmanyam, D. K. S.
Sridhar, S.
Dutta, T. K.
Escobar syndrome in three male patients of same family
title Escobar syndrome in three male patients of same family
title_full Escobar syndrome in three male patients of same family
title_fullStr Escobar syndrome in three male patients of same family
title_full_unstemmed Escobar syndrome in three male patients of same family
title_short Escobar syndrome in three male patients of same family
title_sort escobar syndrome in three male patients of same family
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144683/
https://www.ncbi.nlm.nih.gov/pubmed/21814339
http://dx.doi.org/10.4103/0971-6866.82188
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AT sridhars escobarsyndromeinthreemalepatientsofsamefamily
AT duttatk escobarsyndromeinthreemalepatientsofsamefamily

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