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.
No takes yet. Share an insight, caveat, or question.
Irvine et al. (1996) studied this question.
Synapse has enriched 5 related papers. Consider them for comparative context: