Literature DB >> 3780038

Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly.

D Kumar, R K Levick.   

Abstract

A family is reported with nail dysplasia and/or absent nails, long and broad finger-like thumbs, camptodactyly and absent fingers. Radiological studies revealed hypoplasia of metacarpals, metatarsals and distal phalanges. Two affected individuals have absent metacarpals and phalanges. The clinical and radiological features may constitute a distinct syndrome of autosomal dominant onychodystrophy and anonychia with Julia Bell brachydactyly type B.

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Year:  1986        PMID: 3780038     DOI: 10.1111/j.1399-0004.1986.tb00598.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Authors:  Y Gong; D Chitayat; B Kerr; T Chen; R Babul-Hirji; A Pal; M Reiss; M L Warman
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

2.  Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.

Authors:  N C Nevin; P S Thomas; D J Eedy; C Shepherd
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

3.  Brachymorphism-onychodysplasia-dysphalangism syndrome.

Authors:  A Verloes; D Bonneau; O Guidi; M Berthier; D Oriot; L Van Maldergem; L Koulischer
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

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

Authors:  Daipayan Chatterjee
Journal:  Indian J Hum Genet       Date:  2014-04
  4 in total

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