斯蒂克勒综合征5例分析  

Stickler Syndrome(Report of 5 Cases)

作　　者：陈跃[1] 皮敏石[1] 

机构地区：[1]厦门市中山医院眼科,厦门361004

出　　处：《福建医科大学学报》2000年第2期154-156,共3页Journal of Fujian Medical University

摘　　要：目的　探讨斯蒂克勒综合征的眼部及其他临床表现。　方法　对一个家系三代 5例患者进行临床分析。　结果　 5例患者主要眼部表现为不同程度的近视、白内障、玻璃体变性、频发而难治的视网膜脱离。患者身材瘦长 ,下颌稍小 ;无关节病和脊柱异常。Objective\ To study the Stickler syndrome and it's phenotype of eye.\ Methods\ This report a 3 generation family with 5 affected with Stickler syndrome.\ To introduce commonly seen phenotypes of eye and body with Stickler syndrome.\ Results\ All the affected individuals had the characteristic ocular features of Stickler syndrome.\ They noted mild to severe myopia,cataracts,vitreous degeneration.\ The retinal detachments are often frequently and difficult to repair.\ They had the gangling stature,small jaw.\ The pupilla size and lens locality is normal.\ Conclusion\ Stickler syndrome is a genetic progressive condition with affects of the body's collagen\|connective tissue.\;

关 键 词：斯蒂克勒综合征 遗传病 症状 诊断 治疗 

分 类 号：R442.8[医药卫生—诊断学]