Apert综合征16例临床分析并文献复习  

Clinical analysis and literature review of Apert syndrome:a report of 16 cases

作　　者：李中科 翟瑄[1] Li Zhongke;Zhai Xuan(Department of Neurosurgery,Affiliated Children's Hospital,Chongqing Medical University,National Clinical Research Center for Child Health&Disorders,Ministry of Education Key Laboratory of Child Development&Disorders,Chongqing Key Laboratory of Pediatrics,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院神经外科,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿科学重庆市重点实验室,重庆400014

出　　处：《中华小儿外科杂志》2022年第5期399-403,共5页Chinese Journal of Pediatric Surgery

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。Objective 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.

关 键 词：尖头并指(趾)畸形 临床分析 诊断 

分 类 号：R726.8[医药卫生—儿科]