An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
AUTOR(ES)
Irvine, A D
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050796Documentos Relacionados
- An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.
- Acromegaloid facial appearance (AFA) syndrome: report of a second family.
- An autosomal dominant multiple pterygium syndrome.
- Hypertrichosis terminalis with simian characteristics.
- An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.