假性矮妖精貌综合征，Patterson型

定义 英文原文（暂无中文）

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.

别名

Patterson假性矮妖精貌综合征

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 29

外部标识与链接