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1.
Indian J Hum Genet ; 2012 Sept; 18(3): 356-358
Artículo en Inglés | IMSEAR | ID: sea-145862

RESUMEN

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
Artículo en Inglés | IMSEAR | ID: sea-138927

RESUMEN

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.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/epidemiología , Anomalías Múltiples/etiología , Anomalías Múltiples/genética , Anomalías Múltiples/cirugía , Niño , Familia , Humanos , Masculino , Hipertermia Maligna/diagnóstico , Hipertermia Maligna/epidemiología , Hipertermia Maligna/etiología , Hipertermia Maligna/genética , Hipertermia Maligna/cirugía , Hermanos , Anomalías Cutáneas/diagnóstico , Anomalías Cutáneas/epidemiología , Anomalías Cutáneas/genética , Anomalías Cutáneas/cirugía , Adulto Joven
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