UCL Mechanical Engineering, University College London, London, UK.
Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Sci Rep. 2022 Jun 11;12(1):9693. doi: 10.1038/s41598-022-13807-9.
Children with syndromic forms of craniosynostosis undergo a plethora of surgical interventions to resolve the clinical features caused by the premature fusion of cranial sutures. While surgical correction is reliable, the need for repeated rounds of invasive treatment puts a heavy burden on the child and their family. This study explores a non-surgical alternative using mechanical loading of the cranial joints to prevent or delay craniofacial phenotypes associated with Crouzon syndrome. We treated Crouzon syndrome mice before the onset of craniosynostosis by cyclical mechanical loading of cranial joints using a custom designed set-up. Cranial loading applied to the frontal bone partially restores normal skull morphology, significantly reducing the typical brachycephalic appearance. This is underpinned by the delayed closure of the coronal suture and of the intersphenoidal synchondrosis. This study provides a novel treatment alternative for syndromic craniosynostosis which has the potential to be an important step towards replacing, reducing or refining the surgical treatment of all craniosynostosis patients.
患有颅面骨缝早闭综合征的儿童需要接受大量的手术干预，以解决颅缝过早融合引起的临床症状。虽然手术矫正可靠，但需要反复进行侵入性治疗，这给孩子及其家庭带来了沉重的负担。本研究探索了一种非手术替代方法，即通过机械加载颅关节来预防或延迟与 Crouzon 综合征相关的颅面表型。我们使用定制设计的装置对 Crouzon 综合征小鼠进行颅关节周期性机械加载，在颅面骨缝早闭之前对其进行治疗。施加在前骨上的颅部加载部分恢复了正常的颅骨形态，显著减少了典型的短头畸形。这是由冠状缝和蝶枕间软骨联合的延迟闭合所支撑的。本研究为综合征性颅面骨缝早闭提供了一种新的治疗选择，有可能成为替代、减少或改进所有颅面骨缝早闭患者手术治疗的重要一步。
