Indian Journal of Human Genetics
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CASE REPORT
Year : 2014  |  Volume : 20  |  Issue : 2  |  Page : 206-208

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


Department of Orthopaedics, Vardhaman Mahavir Medical College and Safdarjung Hospital, New Delhi, India

Correspondence Address:
Daipayan Chatterjee
64/10, Dhakuria Station Road, Kolkata - 700 031, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.142914

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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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