软骨形成 1B
基因病名称(英)
Achondrogenesis 1B
别名(英)
ACG-IB,Achondrogenesis Fraccaro type,Achondrogenesis type IB,Fraccaro achondrogenesis
别名
ACG-IB,Achondrogenesis Fraccaro 型,Achondrogenesis IB 型,Fraccaro 软骨发育
统计
reviewed:1; annotated:0
交叉引用
600972,C0265274,D010009
描述(英)
A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease.
描述
1 型软骨发育不良的一种形式，一种致命的软骨发育不良形式，其特征是腰椎骨化不足，骶骨、耻骨和坐骨骨化缺失，临床上表现为死产或过早死亡。除了严重的小畸形外，由于软组织明显水肿，还有一个不成比例的大颅骨。ACG1B是一种常染色体隐性遗传病。