脊椎干骺端发育不良

定义

脊柱干骺端发育不良是一组与行走和生长障碍相关的异质性疾病，在出生后第二年开始显现。这些疾病的特点是椎体扁平和明显的髋关节和膝关节干骺端病变。脊柱干骺端发育不良的不同形式是根据受累干骺端的部位和严重程度区分的。

Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. The disorders are characterised by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.

索引词 可用于检索该条目的同义词与别名

• 脊椎干骺端发育不良
• 脊柱干骺端发育不良
• 脊椎干骺端发育不良，Kozlowski型
• 脊椎干骺端发育不良，“角骨折”型
• 脊椎干骺端发育不良，Schmidt型
• 脊椎干骺端发育不良伴重度膝外翻
• 脊椎干骺端发育不良-视锥视杆细胞营养不良
• 轴性脊椎干骺端发育不良
• 脊椎干骺端发育不良，Golden型
• 脊椎干骺端发育不良伴联合免疫缺陷
• Roifman-Melamed综合征
• 脊椎干骺端发育不良-前臂屈曲-面部畸形
• 脊椎干骺端发育不良，A4型
• 细肢性侏儒症，Fryns型