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Biomedical subjects

F A Baughman

Publications and source records attributed to F A Baughman.

At least 19 recordsLinked to original sources

Re-evaluation of CHANDS.

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.

Ataxia Telangiectasia↗

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

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.

Ataxia↗