acrocephalosyndactylia

核心释义

1. 1.

   一组遗传性先天畸形,特征为颅缝过早融合致头型异常(常呈尖形),并伴有指(趾)融合,常合并颅面及其他系统异常。

   A group of inherited congenital disorders characterized by the premature fusion of cranial sutures resulting in an abnormal, often pointed skull shape, together with fusion of the digits, frequently associated with additional craniofacial and systemic abnormalities.

尖头并指(趾)[畸形]；阿佩尔氏综合征