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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Veröffentlicht in:Indian journal of human genetics 2011-01, Vol.17 (1), p.22-25
Hauptverfasser: Amalnath, Deepak S, Subrahmanyam, D.K.S, Sridhar, S, Dutta, T.K
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creator Amalnath, Deepak S
Subrahmanyam, D.K.S
Sridhar, S
Dutta, T.K
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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source CLOCKSS; Bioline International; Portico (Triggered Content) Open Access; PubMed Central; EZB Electronic Journals Library; PubMed Central Open Access
subjects Bacterial pneumonia
Case Report
Case studies
Diagnosis
Escobar syndrome, familial, multiple pterygium syndrome
Family
Family medical history
Genetic disorders
Genetics
Health aspects
Pneumonia
Scoliosis
title Escobar syndrome in three male patients of same family
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