脆性X综合征中的一种特殊亚表型：极度肥胖、身材矮小、手脚粗短、弥漫性色素沉着。脆性X综合征下丘脑功能紊乱的进一步证据？

A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?

作者信息

Fryns J P, Haspeslagh M, Dereymaeker A M, Volcke P, Van den Berghe H

机构信息

Center for Human Genetics, University of Leuven, Belgium.

出版信息

Clin Genet. 1987 Dec;32(6):388-92. doi: 10.1111/j.1399-0004.1987.tb03155.x.

DOI:10.1111/j.1399-0004.1987.tb03155.x

PMID:3436088

Abstract

In this report we describe two fra(X) adults and two prepubertal fra(X) brothers with a combination of distinct phenotypic findings: extreme obesity, short stature, stubby hands and feet and diffuse hyper-pigmentation. These clinical abnormalities may be an additional indication of a specific hypothalamic disturbance in the fra(X) syndrome.

摘要

在本报告中，我们描述了两名脆性X综合征（fra(X)）成年患者以及两名青春期前的fra(X)综合征兄弟，他们具有一系列独特的表型特征组合：极度肥胖、身材矮小、手脚粗短以及全身弥漫性色素沉着。这些临床异常情况可能是脆性X综合征中特定下丘脑功能紊乱的又一迹象。