颅缝早闭的分子机制与诊疗进展  

Molecular mechanisms and advances in diagnosis and treatment of craniosynostosis

作　　者：米伟阳 史航宇 Mi Weiyang;Shi Hangyu(Department of Neurosurgery,Xi’an Children’s Hospital Affiliated to Xi’an Jiaotong University,Xi’an 710000,China)

机构地区：[1]西安交通大学附属西安市儿童医院神经外科,西安710000

出　　处：《临床小儿外科杂志》2025年第1期91-96,共6页Journal of Clinical Pediatric Surgery

基　　金：陕西省自然科学基础研究计划(2022JM-595)。

摘　　要：颅缝早闭是一种颅骨先天发育障碍性疾病。在婴幼儿发育过程中,常表现为一条或多条颅缝线过早骨化。颅缝早闭能够引起继发性颅内压增高、神经发育异常以及神经精神疾病等诸多严重并发症,导致大脑发育受损和颅骨形状异常。颅缝早闭的机制复杂,其发生可受遗传、表观遗传、致畸药物以及外部环境等多种因素影响,因此颅缝早闭的早期诊断常需整合遗传信息、外部环境以及影像学等多方面资料。颅缝早闭治疗以手术辅以器械矫形为主,通过改进术式获得更优疗效。本文对颅缝早闭的分子信号机制、表观遗传机理、及颅缝早闭的诊断治疗进展进行综述。Craniosynostosis is a congenital cranial developmental disorder characterized by the premature fusion of one or more cranial sutures during infancy.This condition can lead to secondary complications such as increased intracranial pressure,neurodevelopmental abnormalities,and neuropsychiatric disorders,resulting in impaired brain development and abnormal cranial shape.The mechanisms underlying craniosynostosis are complex and influenced by multiple factors,including genetic,epigenetic,teratogenic agents,and environmental factors.Early diagnosis of craniosynostosis often requires integrating genetic information,environmental factors,and imaging parameters.Treatment primarily involves surgery,supplemented by orthotic devices to improve outcomes through refined surgical techniques.This article reviews the molecular signaling mechanisms,epigenetic factors,and recent advancements in the diagnosis and treatment of craniosynostosis.

关 键 词：颅缝早闭 表观遗传学 分子机制 

分 类 号：R726.5[医药卫生—儿科]