RESUMO
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.
Assuntos
Adulto , Braquidactilia/epidemiologia , Braquidactilia/genética , Anormalidades Congênitas/genética , Família/história , Dedos/anormalidades , Pé/anormalidades , Deformidades do Pé/genética , Humanos , Masculino , Irmãos/epidemiologiaRESUMO
We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.