Bernd L, Niethard F U, Schiltenwolf M
Stiftung Orthopädische Universitätsklinik Heidelberg.
Z Orthop Ihre Grenzgeb. 1989 May-Jun;127(3):358-61. doi: 10.1055/s-2008-1044676.
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.
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。
