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一种具有肢端肥大样面容和全身性终毛增多的常染色体显性综合征。

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.

作者信息

Irvine A D, Dolan O M, Hadden D R, Stewart F J, Bingham E A, Nevin N C

机构信息

Department of Medical Genetics, Belfast City Hospital, Northern Ireland.

出版信息

J Med Genet. 1996 Nov;33(11):972-4. doi: 10.1136/jmg.33.11.972.

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.

摘要

我们报告了一个家族,其中肢端肥大症样面容(AFA)和全身性终毛增多症的表型在三代人中呈现分离现象。先天性终毛增多症和AFA先前已被报道为独立的常染色体显性性状。这是首次描述该联合表型常染色体显性遗传的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/6bd0217eb6d4/jmedgene00265-0084-a.jpg

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