1) multiple epiphyseal dysplasia
多发性骨骺发育不良
1.
Progress of molecular genetic research on pseudoachondroplasia and multiple epiphyseal dysplasia;
假性软骨发育不全、多发性骨骺发育不良的分子遗传学研究进展
2.
Objective: Our aim was to study the characteristics of mutation of cartilage oligomeric matrix protein (COMP) gene in Chinese patients with multiple epiphyseal dysplasia( MED).
目的:探讨我国多发性骨骺发育不良患者中软骨寡聚物基质蛋白(COMP)基因的突变情况。
3) 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。
4) X-linked spondyloepiphyseal dysplasia tarda
X-连锁迟发性脊椎骨骺发育不良
1.
Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site;
X-连锁迟发性脊椎骨骺发育不良SEDL基因剪接受体突变导致潜在剪接位点激活(英文)
5) spondyloepiphyseal dysplasia tarda gene
迟发性脊椎骨骺发育不良基因
6) 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。
补充资料：半肢骨骺发育不良
半肢骨骺发育不良
dysplasia epiphysialis hemimelia
1956年Fairbank首先描述。系一种不对称的软骨增生，局限于一个肢体的一侧。多见于2～14岁的男性。好发于跗骨、股骨远端和胫骨近端，出现疼痛、膝内翻或膝外翻、踝外翻或马蹄足，以及关节活动受限。X线摄片可见骨骺处有骨隆起，不规则。若骨块妨碍关节活动，可切除之。马蹄足可行跟腱延长术。跗骨症状严重可行三关节融合术。畸形严重可行截骨术。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条