去骨形成 1
基因病名称(英)
Atelosteogenesis 1
别名(英)
AOI,Atelosteogenesis type I,Giant cell chondrodysplasia,Spondylohumerofemoral hypoplasia
别名
AOI，I型无骨形成，巨细胞软骨发育不良，肱骨股骨发育不全
统计
reviewed:1; annotated:0
交叉引用
108720,C0265283,D010009
描述(英)
A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue.
描述
一种致命的软骨发育不良，其特征是肱骨和股骨远端发育不全，中胸椎发育不全，偶尔单手骨完全缺乏骨化，并且在软骨中发现多个被包裹在纤维组织中的退化软骨细胞。