AN AUTOSOMAL-DOMINANT SYNDROME OF ACROMEGALOID FACIAL APPEARANCE AND GENERALIZED HYPERTRICHOSIS TERMINALIS

Authors
IRVINE AD DOLAN OM HADDEN DR STEWART FJ BINGHAM EA NEVIN NC
Citation
Ad. Irvine et al., AN AUTOSOMAL-DOMINANT SYNDROME OF ACROMEGALOID FACIAL APPEARANCE AND GENERALIZED HYPERTRICHOSIS TERMINALIS, Journal of Medical Genetics, 33(11), 1996, pp. 972-974
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
33
Issue
11
Year of publication
1996
Pages
972 - 974
Database
ISI
SICI code
0022-2593(1996)33:11<972:AASOAF>2.0.ZU;2-U
Abstract
We report a family in which a phenotype of acromegaloid facial appeara nce (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. Thi s is the first report to delineate an autosomal dominant transmission of the combined phenotype.