Division of Plastic and Reconstructive Surgery, Stanford University, Stanford, California.
Semin Plast Surg. 2012 May;26(2):53-63. doi: 10.1055/s-0032-1320063.
Nonsyndromic craniosynostosis is more commonly encountered than syndromic cases in pediatric craniofacial surgery. Affected children display characteristic phenotypes according to the suture or sutures involved. Restricted normal growth of the skull can lead to increased intracranial pressure and changes in brain morphology, which in turn may contribute to neurocognitive deficiency. Management has primarily focused on surgical correction of fused sutures prior to 12 months of age to optimize correction of the deformity and to ameliorate the effects of increased intracranial pressure. However, emphasis has recently shifted to better understanding the pathogenesis of neurocognitive impairment observed in these children, along with genetic mutations that contribute to premature suture fusion. Such understanding will provide opportunities for earlier and more specific neurocognitive interventions and for the development of targeted genetic therapy to prevent pathologic suture fusion. The authors review the common types of nonsyndromic craniosynostosis and the epidemiological, genetic, and neurodevelopmental details that are currently known from the literature. In addition, they present the rationale for surgical correction, offer suggestions for timing of intervention, and present some nuances of techniques that they find important in producing consistent results.
非综合征性颅缝早闭比综合征性颅缝早闭在儿科颅面外科中更为常见。根据涉及的缝线或缝线，受影响的儿童表现出特征性表型。颅骨正常生长受限可导致颅内压升高和脑形态变化，进而可能导致神经认知缺陷。治疗主要集中在 12 个月龄前通过手术矫正融合的缝线，以优化畸形矫正并减轻颅内压升高的影响。然而，最近的重点已转移到更好地理解这些儿童中观察到的神经认知障碍的发病机制，以及导致缝线过早融合的基因突变。这种理解将为早期和更具体的神经认知干预以及针对病理性缝线融合的靶向基因治疗提供机会。作者回顾了常见的非综合征性颅缝早闭类型，以及目前从文献中了解到的流行病学、遗传学和神经发育细节。此外，他们提出了手术矫正的基本原理，对干预时机提出了建议，并介绍了他们认为在产生一致结果方面很重要的技术细节。
