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

      case-report

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          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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          Most cited references17

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          Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

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            Anonychia with ectrodactyly: clinical and linkage data.

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              • Article: not found

              Hereditary congenital deafness with onychodystrophy.

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                Author and article information

                Journal
                Indian J Hum Genet
                Indian J Hum Genet
                IJHG
                Indian Journal of Human Genetics
                Medknow Publications & Media Pvt Ltd (India )
                0971-6866
                1998-362X
                Apr-Jun 2014
                : 20
                : 2
                : 206-208
                Affiliations
                [1]Department of Orthopaedics, Vardhaman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
                Author notes
                Address for correspondence: Dr. Daipayan Chatterjee, 64/10, Dhakuria Station Road, Kolkata - 700 031, West Bengal, India. E-mail: daipayan27@ 123456yahoo.co.in
                Article
                IJHG-20-206
                10.4103/0971-6866.142914
                4228578
                2c4d522a-ebcb-4017-bb6d-d55597deebda
                Copyright: © Indian Journal of Human Genetics

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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                Categories
                Case Report

                Genetics
                brachydactyly,congenital anonychia,cooks syndrome,familial,rare disease
                Genetics
                brachydactyly, congenital anonychia, cooks syndrome, familial, rare disease

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