摘要目的:探讨Apert综合征患儿的临床特征和诊治要点。方法:收集2016年1月至2020年12月重庆医科大学附属儿童医院收治的16例Apert综合征患儿的临床资料，其中，男8例，女8例；中位年龄为10个月，年龄范围为4个月至5岁。16例患儿均为出生即发现多发畸形，包括颅面部畸形及四肢并指/趾畸形等，其中头颅外形异常16例、四肢并指/趾畸形16例、冠状缝早闭10例、突眼8例、腭裂7例、心脏畸形3例。结合文献复习进行归纳总结。结果:本组除1例家属放弃外，其余15例进行了手术治疗。手术年限（首次手术至末次手术之间的时长）的中位数为18.5个月（4~64个月），平均手术次数为2.8次（1~5次），术后均恢复良好，形态及功能较前明显改善。本组患儿于3个月至2岁行颅骨畸形矫正术，结合文献分析，建议在6个月前完成颅骨畸形矫正术，6~7岁接受面中部凹陷畸形矫正术。结论:Apert综合征在临床上易被误诊为相关单纯畸形或其他综合征型颅缝早闭，基因检测有助于确诊，其治疗尽可能行矫正畸形术并恢复功能。

abstractsObjective:To explore the clinical characteristics and essentials of diagnosis and treatment in children with Apert syndrome (AS).Methods:From January 2016 to December 2020, clinical data were reviewed for 16 AS children. There were 8 boys and 8 girls with a median age of 10(4-60) months. All of them had multiple malformations at birth, including craniofacial deformities and finger/toe deformities. There were abnormal skull shape (n=16) , syndactyly of hands and feet (n=16) , premature closure of coronary sutures (n=10) , exopthalmos (n=8) , cleft palate (n=7) and cardiac malformations (n=3). Also a literature review was performed.Results:Except for one abandoning case, the remainders underwent operations. The median number of surgical years (length of time between initial surgery and the last surgery) was 18.5(4-64) months and the average number of operations was 2.8(1-5). Postoperative recovery was excellent and both morphology and function significantly improved as compared previously. Cranial deformity was corrected at 3 months to 2 years. In conjunctions with a literature review, complete skull deformity correction was recommended before 6 months and mid-facial depression deformity correction at (6-7) years.Conclusion:Frequently misdiagnosed clinically, AS should be differentiated from associated simple malformations or other syndromic types of craniosynostosis. Gene detection aids in making a definite diagnosis. The overall goal is to correct malformations and restore functions as much as possible.