去骨形成 2
基因病名称(英)
Atelosteogenesis 2
别名(英)
AO-II,Atelosteogenesis type II,Neonatal osseous dysplasia 1,Neonatal osseous dysplasia type I
别名
AO-II,Atelosteogenesis II 型,新生儿骨发育不良 1,新生儿骨发育不良 I 型
统计
reviewed:1; annotated:0
交叉引用
256050,C1850554,C1850555,D010009
描述(英)
A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.
描述
以四肢缩短、畸形综合征和影像学骨骼特征为特征的围产期发育不良。患者死产或出生后不久死亡。