Literature DB >> 490586

Re-evaluation of CHANDS.

H V Toriello, J A Lindstrom, D F Waterman, F A Baughman.   

Abstract

A rare ectodermal dysplasia with the acronym CHANDS (Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome) was described by Baughman (1971) as being a new autosomal dominant condition. Additional pedigree data obtained after the original report indicate that the mode of inheritance is more likely to be autosomal recessive, with an instance of quasi-dominant transmission as a result of multiple consanguineous matings in the family. These data are provided in this report.

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Year:  1979        PMID: 490586      PMCID: PMC1012678          DOI: 10.1136/jmg.16.4.316

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


  1 in total

1.  CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome.

Authors:  F A Baughman
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06
  1 in total
  4 in total

Review 1.  The p63 gene in EEC and other syndromes.

Authors:  H G Brunner; B C J Hamel; H Van Bokhoven
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

2.  [Ankyloblepharon filiforme adnatum].

Authors:  M Haustein; F Reschke; N Terai; A Lesczcynska; K Wozniak; L E Pillunat; F Sommer
Journal:  Ophthalmologe       Date:  2014-02       Impact factor: 1.059

3.  Management of ankyloblepharon filiforme adnatum.

Authors:  A Ioannides; N D Georgakarakos
Journal:  Eye (Lond)       Date:  2011-02-25       Impact factor: 3.775

4.  Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.

Authors:  Ajay Chopra; Debdeep Mitra; Renu Kandpal; Reetu Agarwal
Journal:  Int J Trichology       Date:  2018 Jan-Feb
  4 in total

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