Literature DB >> 5173251

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

F A Baughman.   

Abstract

Reported here is an inbred family of Dutch extraction in which there appears to be both a "new" autosomal dominant trait (the combination of curly hair, ankyloblepharon and nail dysplasia) and an autosomal recessive trait (an ataxia). The ataxia, seemingly an extrapyramidal disorder, was encountered in three of nine sibs and will be the subject of a separate report.

Entities:  

Mesh:

Year:  1971        PMID: 5173251

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  2 in total

1.  [Fused eyelids in a neonate with ventricular septal defect. Diagnosis: AFA].

Authors:  M Varde; J Roider
Journal:  Ophthalmologe       Date:  2008-02       Impact factor: 1.059

2.  Re-evaluation of CHANDS.

Authors:  H V Toriello; J A Lindstrom; D F Waterman; F A Baughman
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

  2 in total

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