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1.
Indian J Hum Genet ; 2012 Sept; 18(3): 356-358
Article in English | IMSEAR | ID: sea-145862

ABSTRACT

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands.

2.
Indian J Hum Genet ; 2011 Jan; 17(1): 22-25
Article in English | IMSEAR | ID: sea-138927

ABSTRACT

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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Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/etiology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/surgery , Child , Family , Humans , Male , Malignant Hyperthermia/diagnosis , Malignant Hyperthermia/epidemiology , Malignant Hyperthermia/etiology , Malignant Hyperthermia/genetics , Malignant Hyperthermia/surgery , Siblings , Skin Abnormalities/diagnosis , Skin Abnormalities/epidemiology , Skin Abnormalities/genetics , Skin Abnormalities/surgery , Young Adult
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