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Ehlers-Danlos综合征Ⅷ型:牙周炎、易擦伤、马方综合征样体型和特征性面容
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作者 moore m.m. Votava J.M. +2 位作者 Orlow S.J. Schaffer J.V. 董平 《世界核心医学期刊文摘(皮肤病学分册)》 2006年第11期8-8,共1页
An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with s... An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome typeVIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease. 展开更多
关键词 特征性面容 马方综合征 特殊面容 蜘蛛样指 活动过度 结缔组织病 常染色体 Ⅲ型胶原
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