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一种性腺功能减退、脱发、糖尿病、智力发育迟缓、耳聋和心电图异常的综合征。

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

作者信息

Woodhouse N J, Sakati N A

出版信息

J Med Genet. 1983 Jun;20(3):216-9. doi: 10.1136/jmg.20.3.216.

Abstract

A distinct and previously undescribed syndrome has been observed in six Saudi Arabian patients from two highly inbred families. The parents were normal, indicating an autosomal recessive pattern of inheritance. All the patients have a distinctive facial appearance, hypogonadism, sparse or absent hair, diabetes mellitus, mental retardation, mild deafness, and variable S-T and T wave abnormalities on the electrocardiograph.

摘要

在来自两个高度近亲结婚家庭的6名沙特阿拉伯患者中观察到一种独特的、以前未被描述过的综合征。父母均正常,表明为常染色体隐性遗传模式。所有患者都有独特的面部外观、性腺功能减退、毛发稀疏或缺失、糖尿病、智力迟钝、轻度耳聋以及心电图上可变的S-T段和T波异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c7e/1049050/09cf840ac8dd/jmedgene00107-0059-a.jpg

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