伴有关节松弛的脊椎-骨骺-干骺端发育异常的表现及自然病史。
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.
作者信息
Beighton P, Gericke G, Kozlowski K, Grobler L
出版信息
Clin Genet. 1984 Oct;26(4):308-17. doi: 10.1111/j.1399-0004.1984.tb01065.x.
Abstract
Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans-speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.
摘要
伴有关节松弛的脊椎骨骺干骺端发育不良（SEMDJL）的特征为严重侏儒症、关节活动过度和进行性脊柱排列不齐。对南非说非洲语社区13个家庭中18名患者的临床表现进行了分析，结果表明活到成年并不常见。SEMDJL以常染色体隐性性状遗传。
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