Literature DB >> 7473658

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

N C Nevin1, P S Thomas, D J Eedy, C Shepherd.   

Abstract

We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of all toe nails. In addition, there is absence/hypoplasia of the distal phalanges of the hands and feet. Our family confirms this syndrome as a distinct entity with autosomal dominant inheritance.

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Year:  1995        PMID: 7473658      PMCID: PMC1051641          DOI: 10.1136/jmg.32.8.638

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 in total

1.  Anonychia with bizarre flexural pigmentation-an autosomal dominal dermatosis.

Authors:  J Verbov
Journal:  Br J Dermatol       Date:  1975-04       Impact factor: 9.302

2.  Anonychia with ectrodactyly: clinical and linkage data.

Authors:  D H LEES; S D LAWLER; J H RENWICK; J M THODAY
Journal:  Ann Hum Genet       Date:  1957-10       Impact factor: 1.670

3.  Multiple ophthalmic anomalies and digital hypoplasia.

Authors:  J Chemke; M Oliver; D Mallek; Z Kaveh
Journal:  J Genet Hum       Date:  1978-03

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

Authors:  D Kumar; R K Levick
Journal:  Clin Genet       Date:  1986-09       Impact factor: 4.438

5.  Dominant anonychia and onychodystrophy.

Authors:  I Timerman; C Museteanu; N N Simionescu
Journal:  J Med Genet       Date:  1969-03       Impact factor: 6.318

6.  The oto-onycho-peroneal syndrome. A probably new genetic entity.

Authors:  R A Pfeiffer
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

7.  Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome.

Authors:  N C Nevin; P S Thomas; J Calvert; M M Reid
Journal:  Am J Med Genet       Date:  1982-11

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

Authors:  R G Cooks; M Hertz; M B Katznelson; R M Goodman
Journal:  Clin Genet       Date:  1985-01       Impact factor: 4.438

9.  A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias.

Authors:  M Pinheiro; L C Pereira; N Freire-Maia
Journal:  Br J Dermatol       Date:  1981-10       Impact factor: 9.302

  9 in total
  3 in total

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

Authors:  Mira Genzer-Nir; Morad Khayat; Leonid Kogan; Hector I Cohen; Miriam Hershkowitz; Dan Geiger; Tzipora C Falik-Zaccai
Journal:  Eur J Hum Genet       Date:  2010-02-10       Impact factor: 4.246

2.  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

3.  Congenital isolated Iso-Kikuchi syndrome in a newborn.

Authors:  Enrico Valerio; Francesca Favot; Ilaria Mattei; Mario Cutrone
Journal:  Clin Case Rep       Date:  2015-09-07
  3 in total

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