Resumo

TERAN, Carlos G.; DIAZ FLOREZ, Melissa A.  e  GRANDY, Giuseppe. Autosomal Dominant Inheritance Associated Congenital Anonychia Congenita - Cooks Syndrome. Gac Med Bol [online]. 2022, vol.45, n.1, pp.64-66. ISSN 1012-2966.  https://doi.org/10.47993/gmb.v45i1.387.

Cooks syndrome, which was first reported by Cooks et al in 1985. It is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of digit five of the hands and complete absence of all toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a “rare disease”. We present a newborn child with a history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. Radiography of the fingers shows no abnormalities in the phalanges. This case could represent a variant of Cooks syndrome or a new disease not yet described because of the existence of an important family history with similar deformities in the mother, grandmother and sister.

Palavras-chave : congenital anonychia; brachydactyly; onychodystrophy; cooks syndrome; nail hypoplasia.

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