Re-evaluation of CHANDS.

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.

• Authors: H V Toriello, J A Lindstrom, D F Waterman, F A Baughman
• Journal: Journal of medical genetics (J Med Genet) Vol. 16 Issue 4 Pg. 316-7 (Aug 1979) ISSN: 0022-2593 [Print] England
• PMID: 490586 (Publication Type: Case Reports, Journal Article)

Topics

• Ataxia Telangiectasia (complications, genetics)
• Child
• Eyelids (abnormalities)
• Female
• Hair (abnormalities)
• Humans
• Male
• Nails, Malformed
• Pedigree
• Syndrome