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[克里斯蒂 - 西门子 - 图赖讷综合征。一例新病例]

[Christ-Siemens-Touraine syndrome. A new case].

作者信息

Gardel P, Mercier C, Molhant G

出版信息

Rev Stomatol Chir Maxillofac. 1984;85(2):115-8.

PMID:6587522
Abstract

A patient with anhidrotic ectodermal dysplasia presented the three classical symptoms necessary to establish an early diagnosis: hypotrichosis, absence or reduction in number of teeth, and absence or diminution of sweat glands. Radiological examination of the maxillary bones (particularly a panoramic image) and skin biopsy provided confirmation of diagnosis. The course of Christ-Siemens syndrome is dominated by the extent of the thermal disorders during the first three months of life, and the functional and psychological disturbances related to the absence of the teeth and to the "appearance" of the patient.

摘要

一名无汗性外胚层发育不良患者出现了早期诊断所需的三种典型症状

毛发稀少、牙齿数量缺失或减少以及汗腺缺失或减少。对上颌骨进行放射学检查(尤其是全景图像)和皮肤活检确诊。克里斯-西门斯综合征的病程主要取决于出生后前三个月热紊乱的程度,以及与牙齿缺失和患者“外貌”相关的功能和心理障碍。

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