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

Published on Apr 1, 2014in Indian Journal of Human Genetics
· DOI :10.4103/0971-6866.142914
Daipayan Chatterjee1
Estimated H-index: 1
(Safdarjang Hospital)
Sources
Abstract
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.
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#1Roberta Goldshlag Cooks (TAU: Tel Aviv University)H-Index: 1
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A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.
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#2B S Tara Buehler (Georgia Regents University)H-Index: 1
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2 CitationsSource