Apert综合征

定义

Apert综合征是一种与FGFR2基因突变相关的综合征性颅缝早闭，其特征是冠状缝过早闭合，较晚发生骨性联接。特征性病理改变是至少二至四指（手指和脚趾）的骨性和膜性并指。面中部发育不全的发病率高，伴眶面部狭窄、腭裂、椎体融合。30%智力障碍。

Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2 gene and characterised by premature closure of coronal suture and a later onset of pansynostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus II-IV (fingers and toes). High incidence of midface hypoplasia with orbital and facial stenosis, cleft palate, vertebral fusion. Mental deficits in 30%.

索引词 可用于检索该条目的同义词与别名

• Apert综合征
• 尖头并指综合征I型