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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 17, No. 1, 2011, pp. 22-25
Bioline Code: hg11006
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 17, No. 1, 2011, pp. 22-25

 en Escobar syndrome in three male patients of same family
Amalnath, Deepak S.; Subrahmanyam, D.K.S.; Sridhar, S. & Dutta, T.K.


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.

Escobar syndrome, familial, multiple pterygium syndrome

© Copyright 2011 Indian Journal of Human Genetics.
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