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Literature DB >> 3978841

A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges.

R G Cooks, M Hertz, M B Katznelson, R M Goodman.

Abstract

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.

Entities: Disease

Mesh：

Year: 1985 PMID： 3978841 DOI： 10.1111/j.1399-0004.1985.tb00189.x

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

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Cited

6 in total

1. Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.

Authors: M A Rafiq; M Ansar; T Pham; M Amin-ud-Din; M Anwar; S Haque; M H Chahrour; K Yan; S M Leal; W Ahmad
Journal: Clin Genet Date: 2004-07 Impact factor: 4.438

2. 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

6. 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

6 in total

A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges.

1. Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.

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

3. Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1.

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

5. Brachymorphism-onychodysplasia-dysphalangism syndrome.

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