Crouzon综合征发病机制研究进展  

Research Advancement about Pathogenesis of Crouzon Syndrome

作　　者：郭璐[1] 胡仁明[1] 

机构地区：[1]复旦大学附属华山医院内分泌科,上海200040

出　　处：《医学综述》2007年第24期1992-1994,共3页Medical Recapitulate

摘　　要：Crouzon综合征是一种导致颅缝早闭的常染色体显性遗传病，颅缝过早闭合，从而继发颅腔狭小、眼眶浅和眼球突出、鹰钩鼻、上颌骨发育不良和下颌相对前突等，可引起颅内高压、失明等并发症。绝大部分Cruzon综合征病例的基因定位于染色体10q25～q26的成纤维细胞生长因子受体2的基因区域。可能参与发病过程的调节因子有成纤维细胞生长因子2、碱性成纤维细胞生长因子、肿瘤坏死因子B、（成）头蛋白等。Crouch综合征中散发患者占相当比例，发病可能与患者父亲年龄偏大有关。Crouzon syndrome is an autosomal dominant inherited disease with craniosynostosis. Prema- ture fusion of the skull bone sutures will result in narrow cavity of skull,shallow eye sockets, ophthalmopto- sis, hooknose, maxillae dysplasia, relative prognathism and so on, which will then result in some complications including acute intracranial hypertension,loss of sight and so on. As for the majority of Creuzon syndrome, its gene is located on the gene domain of fibroblast growth factor receptor 2 in chromosome 10q.25 - q26. The regulatory factors that maybe take part in the genesis of this disease are fibroblast growth factor, basic fibre- blast growth factor, tumor necrosis factor ~3, noggin and so on. Sporadic cases occupies a considerable proportion of Creuzon syndrome, of which the onset maybe related to older paternal age.

关 键 词：CROUZON综合征 颅缝早闭 成纤维细胞生长因子受体2 

分 类 号：R596.2[医药卫生—内科学]