Trepman E
Department of Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, Connecticut.
Orthop Rev. 1993 Mar;22(3):371-6.
A 35-year-old man with hereditary progressive arthro-ophthalmopathy (Stickler syndrome) was treated for osteochondritis dissecans of the knee. As has been described in families with this autosomal-dominant connective-tissue disorder, phenotypic variation was present in his family; the patient's primary manifestations of the syndrome were ocular, but his brother had significant joint involvement. Osteochondritis dissecans of the knee may be a component of the arthrosis in this syndrome, but in the current case, the occurrence might have been coincidental. Stickler syndrome can be manifested by multiple musculoskeletal abnormalities, often early in life, and may be mistaken for several other diseases.
一名患有遗传性进行性关节眼病（斯蒂克勒综合征）的35岁男性因膝关节剥脱性骨软骨炎接受治疗。正如在患有这种常染色体显性结缔组织疾病的家族中所描述的那样，他的家族中存在表型变异；该患者综合征的主要表现为眼部症状，但他的兄弟有明显的关节受累情况。膝关节剥脱性骨软骨炎可能是该综合征关节病的一个组成部分，但在当前病例中，其发生可能是巧合。斯蒂克勒综合征可表现为多种肌肉骨骼异常，且往往在生命早期出现，可能会被误诊为其他几种疾病。
