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DOI 10.1038/s41572-025-00607-4

Медицинская библиотека · Nature reviews. Disease primers · 2025

Non-syndromic craniosynostosis.

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

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Аннотация

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.

Для цитирования: Alperovich Michael, Tonello Cristiano, Mayes Linda C, Kahle Kristopher T. Non-syndromic craniosynostosis.. Nature reviews. Disease primers. 2025. DOI: 10.1038/s41572-025-00607-4.

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