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[遗传性进行性关节眼病(斯蒂克勒综合征)]

[Hereditary progressive arthro-ophthalmopathy (Stickler syndrome)].

作者信息

Bernd L, Niethard F U, Schiltenwolf M

机构信息

Stiftung Orthopädische Universitätsklinik Heidelberg.

出版信息

Z Orthop Ihre Grenzgeb. 1989 May-Jun;127(3):358-61. doi: 10.1055/s-2008-1044676.

Abstract

The hereditary arthro-ophthalmopathy (Stickler-Syndrome) is a relatively frequent dominantly inherited disorder of connective tissue. The main symptom is strong congenital myopia, which develops often to blindness. On the other hand there is a dysplasia of the meta- and diaphysis of the tubular bones, which varies in form and expression. Within difficulties with differential diagnosis to near syndromes it is important to get a clear diagnosis by ophthalmologic, radiologic and family investigations. Within three members of a family the orthopaedic symptomatology is shown. In case of Stickler-Syndrome surgery in the skeleton system should be prevented.

摘要

遗传性关节眼病(斯蒂克勒综合征)是一种相对常见的显性遗传性结缔组织疾病。主要症状是严重的先天性近视,常发展为失明。另一方面,管状骨的干骺端和骨干发育异常,其形式和表现各不相同。在与相近综合征进行鉴别诊断存在困难时,通过眼科、放射学和家族调查以明确诊断很重要。在一个家族的三名成员中显示出骨科症状。对于斯蒂克勒综合征,应避免进行骨骼系统手术。

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