Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature

Daipayan ChatterjeeIndian Journal of Human Genetics 2014 20(2):206-208Cooks 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.

Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Daipayan Chatterjee Source Type: research