PDF(Pubmed)
Abstract：
Sagittal craniosynostosis, a rare but fascinating craniofacial anomaly, presents a unique challenge for both diagnosis and treatment. This condition involves premature fusion of the sagittal suture, which alters the normal growth pattern of the skull and can affect neurological development. Sagittal craniosynostosis is characterised by a pronounced head shape, often referred to as scaphocephaly. Asymmetry of the face and head, protrusion of the fontanel, and increased intracranial pressure are common clinical manifestations. Early recognition of these features is crucial for early intervention, and understanding the aetiology is, therefore, essential. Although the exact cause remains unclear, genetic factors are thought to play an important role. Mutations in genes such as FGFR2 and FGFR3, which disrupt the normal development of the skull, are suspected. Environmental factors and various insults during pregnancy can also contribute to the occurrence of the disease. An accurate diagnosis is crucial for treatment. Imaging studies such as ultrasound, computed tomography, magnetic resonance imaging, and three-dimensional reconstructions play a crucial role in visualising the prematurely fused sagittal suture. Clinicians also rely on a physical examination and medical history to confirm the diagnosis. Early detection allows for quick intervention and better treatment outcomes. The treatment of sagittal craniosynostosis requires a multidisciplinary approach that includes neurosurgery, craniofacial surgery, and paediatric care. Traditional treatment consists of an open reconstruction of the cranial vault, where the fused suture is surgically released to allow normal growth of the skull. However, advances in minimally invasive techniques, such as endoscopic strip craniectomy, are becoming increasingly popular due to their lower morbidity and shorter recovery times. This review aims to provide a comprehensive overview of sagittal craniosynostosis, highlighting the aetiology, clinical presentation, diagnostic methods, and current treatment options.
摘要：
矢状颅骨融合,一种罕见但令人着迷的颅面异常,对诊断和治疗提出了独特的挑战。这种情况涉及矢状缝线的过早融合，这改变了颅骨的正常生长模式，并可能影响神经发育。矢状颅骨融合的特征是明显的头部形状，通常被称为头颅。面部和头部不对称，fontanel突出，颅内压升高是常见的临床表现。早期识别这些特征对于早期干预至关重要，理解病因是，因此,必要的。虽然确切原因尚不清楚,遗传因素被认为起着重要作用。FGFR2和FGFR3等基因的突变破坏了颅骨的正常发育，被怀疑。怀孕期间的环境因素和各种侮辱也可能导致疾病的发生。准确的诊断对于治疗至关重要。成像研究，如超声，计算机断层扫描,磁共振成像，三维重建在可视化过早融合的矢状缝线中起着至关重要的作用。临床医生还依靠体格检查和病史来确认诊断。早期检测允许快速干预和更好的治疗结果。矢状位颅骨融合的治疗需要包括神经外科在内的多学科方法，颅面手术,和儿科护理。传统的治疗包括颅骨的开放重建，其中融合的缝合线通过手术释放以允许颅骨正常生长。然而,微创技术的进步，比如内镜下带状骨瓣切除术，由于它们的发病率较低，恢复时间较短，因此越来越受欢迎。这篇综述旨在提供矢状颅骨融合的全面概述，突出病因，临床表现,诊断方法,和目前的治疗选择。
