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[沃纳综合征]

[The Werner syndrome].

作者信息

Gottesmann T, Zala L, Vogel A, Mumenthaler M

出版信息

Schweiz Med Wochenschr. 1980 Feb 16;110(7):246-50.

PMID:7367844
Abstract

Werner's syndrome, also known as "progeria adultorum", manifests itself in young adults. They appear older than their chronological age. Characteristically, there is atrophy in the distal extremities and the face. There is progressive scleropoikiloderma and hyperkeratosis on the foot soles. In the face, there is frequently a "bird-like" expression. Other characteristics are premature graying and early loss of hair, juvenile cataracts, hypogonadism, diabetic symptoms, arteriosclerosis, osteoporosis, small stature with characteristic features, muscle atrophy and cardiac abnormalities. The disease is inherited in an autosomal recessive way. Pathogenesis is unclear. In the following paper, we are reporting the case of a 29 year old saleswoman, who complained of cramps in the calves, and presented the typical symptoms of Werner's syndrome.

摘要

沃纳综合征,也被称为“成人早老症”,在年轻人中发病。患者看起来比实际年龄苍老。其特征表现为远端肢体和面部萎缩。足底出现进行性硬皮性异色病和角化过度。面部常呈现“鸟脸样”表情。其他特征包括过早白发和早秃、青少年白内障、性腺功能减退、糖尿病症状、动脉硬化、骨质疏松、身材矮小且具有特征性表现、肌肉萎缩以及心脏异常。该疾病以常染色体隐性方式遗传。发病机制尚不清楚。在接下来的论文中,我们报告了一名29岁女销售员的病例,她主诉小腿抽筋,并呈现出沃纳综合征的典型症状。

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