1) Spondyloepiphyseal dysplasia
脊柱骨骺发育不良
1.
Spondyloepiphyseal dysplasia(SED) includes a group of disorders that cause deformation of vertebrae and epiphyses following gene mutations.
脊柱骨骺发育不良(SED)是一组由于基因突变导致脊柱和骨骺畸形的疾病,主要临床表现包括非匀称性矮身材(短躯干)、胸部畸形和早发性关节退行性变。
3) Sponduloepiphyseal dysplasia
脊柱骨骺发育不全
1.
Sponduloepiphyseal dysplasia congenital;
先天性脊柱骨骺发育不全
4) spondyloepiphyseal dysplasia tarda with progressive arthropathy
晚发型脊柱骨骺发育不良伴进行性骨关节病
1.
Objective Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT PA) is an autosomal recessive hereditary disorder of cartilage homeostasis.
目的 研究晚发型脊柱骨骺发育不良伴进行性骨关节病 (SEDT PA)患者关节软骨细胞生物学特性及基因表达谱的改变。
6) spondyloepiphyseal dysplasia tarda
迟发性脊椎骨骺发育不良
1.
Identification of a novel mutation IVS2-2A→C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda;
X-连锁迟发性脊椎骨骺发育不良家系SEDL基因突变研究
2.
X-linked spondyloepiphyseal dysplasia tarda (SEDL) is a rare osteochondrodysplasia caused by the mutation of SEDL gene, which mainly involves vertebral bodies and hips.
X连锁迟发性脊椎骨骺发育不良(spondyloepiphysealdysplasiatarda,SEDL)是一种少见的由SEDL基因突变引起的骨软骨发育障碍性疾病,病变主要累及腰椎和近端承重大关节。
补充资料：X-连锁性脊椎骨骺发育不良综合征
X-连锁性脊椎骨骺发育不良综合征
为X-连锁隐性遗传。表现：于5～10岁间发病，矮小，身高最后为132～158cm。椎体扁平，中央隆起，脊柱后突，轻度侧弯，颈短。逐渐躯干变短。髂骨翼小。股骨颈短。股骨头变扁轻度骨骺不规则。40岁由于关节炎引起背、膝、髋痛，60岁往往致残。
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