An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
case_report · Level V
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- Record sourced from PubMed, PMID 8950682.
- Also identified by PMC identifier 1050796.
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Abstract
We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.
Medical subject headings
- Acromegaly
- Face
- Hypertrichosis