论文部分内容阅读
目的加强对Crouzon综合征的认识。方法对2007年1月至2010年10月在中国人民解放军总院儿科和首都医科大学附属北京儿童医院临床诊断Crouzon综合征的6例患儿临床资料进行总结并回顾相关文献。结果 Crouzon综合征有典型的颅面特征,主要表现为短头、眼眶浅、眼球突出、鹰钩鼻、上颌骨发育不良和下颌相对前突等颅面畸形。手足外观正常。常伴视力障碍、听力异常、鼻塞及上下呼吸道阻塞等。结论 Crouzon综合征是一种常染色体显性遗传病,发病机制不明,目前主要倾向FGFR突变介导的颅缝早闭,致使面中部发育不良,尚无特殊治疗,部分可对症进行手术修复,对其病理机制应进一步探讨,早期进行产前诊断。
Objective To enhance the understanding of Crouzon syndrome. Methods From January 2007 to October 2010 in the Chinese People’s Liberation Army General Hospital and Beijing Children’s Hospital of Capital Medical University clinically diagnosed Crouzon syndrome in 6 cases of clinical data were summarized and reviewed the relevant literature. Results Crouzon syndrome had typical craniofacial features, mainly manifested as short head, shallow eyes, prominent prominence, hook nose, maxillary dysplasia and mandibular relative protrusion. Hand and foot appearance is normal. Often accompanied by visual impairment, hearing loss, nasal obstruction and upper and lower respiratory tract obstruction. Conclusion Crouzon syndrome is an autosomal dominant genetic disease, the pathogenesis is unknown, the current main trend of FGFR mutation-mediated craniosynostosis, resulting in facial dysplasia, there is no special treatment, some symptomatic surgical repair, the The pathological mechanism should be further explored, early diagnosis of prenatal.