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Indian J Hum Genet ; 2014 Apr-Jun ; 20 (2): 206-208
Artículo en Inglés | IMSEAR | ID: sea-156664

RESUMEN

Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a “rare disease” by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.


Asunto(s)
Adulto , Braquidactilia/epidemiología , Braquidactilia/genética , Anomalías Congénitas/genética , Familia/historia , Dedos/anomalías , Pie/anomalías , Deformidades del Pie/genética , Humanos , Masculino , Hermanos/epidemiología
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