An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
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.
Irvine
A D
AD
Department of Medical Genetics, Belfast City Hospital, Northern Ireland.
Dolan
O M
OM
Hadden
D R
DR
Stewart
F J
FJ
Bingham
E A
EA
Nevin
N C
NC
D000172:Acromegaly / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D013006:Growth Hormone / Q000378:metabolism; D006801:Humans; D006983:Hypertrichosis / Q000150:complications / Q000235:genetics*; D008046:Lip / Q000002:abnormalities; D008297:Male; D010375:Pedigree
D013006:Growth Hormone