Kosty Jennifer, Vogel Timothy W
Department of Neurosurgery, University of Cincinnati; and.
Neurosurg Focus. 2015 May;38(5):E2. doi: 10.3171/2015.2.FOCUS155.
For the past 2 decades, clinical and basic science researchers have gained significant insights into the molecular and genetic pathways associated with common forms of craniosynostosis. This has led to invaluable information for families and physicians in their attempts to understand the heterogeneity of craniosynostosis. Genetic mutations have been identified in the fibroblast growth factor receptors (FGFRs) as well as in other targets, including TWIST1, BMP, and RUNX2. Greater understanding of these and other pathways has led to the development of innovative approaches for applying medical therapies to the treatment of craniosynostosis, in particular by maintaining suture patency. In this article, the authors discuss the molecular pathophysiological mechanisms underlying various forms of craniosynostosis. They also highlight recent developments in the field of molecular craniosynostosis research with the hope of identifying targets for medical therapies that might augment the results of surgical intervention.
在过去的20年里，临床和基础科学研究人员对与常见形式的颅缝早闭相关的分子和遗传途径有了重要的认识。这为家庭和医生了解颅缝早闭的异质性提供了宝贵的信息。已在成纤维细胞生长因子受体（FGFRs）以及其他靶点（包括TWIST1、BMP和RUNX2）中鉴定出基因突变。对这些及其他途径的更深入了解导致了将医学疗法应用于颅缝早闭治疗的创新方法的发展，特别是通过维持缝线通畅。在本文中，作者讨论了各种形式颅缝早闭背后的分子病理生理机制。他们还强调了分子颅缝早闭研究领域的最新进展，希望确定可能增强手术干预效果的医学治疗靶点。
