| CASE REPORT |
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| Year : 2011 | Volume
: 17
| Issue : 1 | Page : 22-25 |
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Escobar syndrome in three male patients of same family
Deepak S Amalnath, D.K.S Subrahmanyam, S Sridhar, TK Dutta
Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India
Correspondence Address:
Deepak S Amalnath
Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.82188
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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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