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非综合征性颅缝早闭

Non-syndromic craniosynostosis.

作者信息

Alperovich Michael, Tonello Cristiano, Mayes Linda C, Kahle Kristopher T

机构信息

Division of Plastic Surgery, Department of Surgery, Yale University School of Medicine, New Haven, CT, USA.

Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Sao Paulo, Brazil.

出版信息

Nat Rev Dis Primers. 2025 Apr 10;11(1):24. doi: 10.1038/s41572-025-00607-4.

Abstract

Craniosynostosis is characterized by the premature fusion of one or more major cranial sutures at birth or soon after. Single-suture non-syndromic craniosynostosis (NSC) is the most common form of craniosynostosis and includes the sagittal, metopic, unicoronal and unilambdoid subtypes. Characterized by an abnormal head shape specific to the fused suture type, NSC can cause increased intracranial pressure. Cranial sutures either originate from the neural crest or arise from mesoderm-derived mesenchymal stem cells. A mixture of environmental and genetic factors contributes to NSC, with genetic causes following a largely polygenic model. Physical examination is used to identify the majority of patients, but accompanying radiographic imaging can be confirmatory. The three major surgical techniques in use to treat NSC are cranial vault remodelling, strip craniectomy and spring-assisted cranioplasty. Surgical intervention is ideally performed in the first year of life, with a mortality of <1%. Health-care disparities contribute to delayed initial presentation and timely repair. Optimal timing of surgery and comparative outcomes by surgical technique remain under active study. School-age children with treated NSC on average have subtle, but lower cognitive and behavioural performance. However, patient-reported quality of life outcomes are comparable to those in control individuals.

摘要

颅缝早闭的特征是出生时或出生后不久一条或多条主要颅缝过早融合。单缝非综合征性颅缝早闭(NSC)是颅缝早闭最常见的形式,包括矢状缝、额缝、单侧冠状缝和单侧人字缝亚型。NSC的特征是具有与融合缝类型特定相关的异常头型,可导致颅内压升高。颅缝要么起源于神经嵴,要么起源于中胚层来源的间充质干细胞。环境和遗传因素共同导致NSC,遗传原因在很大程度上遵循多基因模型。体格检查用于识别大多数患者,但辅助放射影像学检查可起到确诊作用。用于治疗NSC的三种主要手术技术是颅骨重塑、条状颅骨切除术和弹簧辅助颅骨成形术。手术干预理想情况下在出生后第一年进行,死亡率<1%。医疗保健差距导致初始就诊延迟和未能及时修复。手术的最佳时机以及不同手术技术的比较结果仍在积极研究中。接受治疗的NSC学龄儿童平均具有细微但较低的认知和行为表现。然而,患者报告的生活质量结果与对照个体相当。

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