Klippel-FeilKlippel-Feil综合征合并耳畸形的研究进展  

RESEARCH PROGRESS OF KLIPPEL-FEIL SYNDROME WITH EAR MALFORMATION

作　　者：杨锦秀[1] 何乐人[1] 

机构地区：[1]中国医学科学院北京协和医学院整形外科医院整形七科,北京100144

出　　处：《中国修复重建外科杂志》2015年第11期1434-1440,共7页Chinese Journal of Reparative and Reconstructive Surgery

基　　金：北京市科技计划项目"首都临床特色应用研究"(Z121107001012111);中国医学科学院整形外科医院归国优秀青年医师后续接力计划~~

摘　　要：目的总结Klippel-Feil综合征及其合并耳畸形的临床、发育和遗传研究进展。方法广泛查阅国内外有关Klippel-Feil综合征合并耳畸形的临床、基础相关研究文献,并进行总结分析。结果 Kli ppel-Feil综合征临床表现和分型复杂,其中耳畸形主要引起听力障碍和外观异常;目前耳畸形在该病中的发生机制仍不清楚,与其他部位畸形的联系缺乏系统深入的研究;Klippel-Feil综合征合并耳畸形治疗的前提是准确诊断和全面的病情评估,开展多学科合作是未来治疗该病重要的临床实践方向。结论耳畸形作为Klippel-Feil综合征中最重要的先天畸形之一,其病因学应着重于发育和遗传机制的研究,而临床诊疗需遵循多学科合作模式,并注意与其他综合征性耳畸形进行鉴别。Objective To summarize the research progress in clinic, development, and genetics of the Klippel-Feil syndrome and its primary ear deformity. Methods The related 1iterature at home and abroad concerning the KlippelFeil syndrome with ear malformation was reviewed, analyzed, and summarized. Results The clinical manifestation and classification of Klippel-Feil syndrome are complicated. As one of the most important accompany malformations, ear deformity mainly leads to hearing impairment and abnormal appearance. However, it is still unclear exactly how the ear deformity forms in Klippel-Feil syndrome, and there is little deep study on the internal connection between the ear deformity and other malformations. The premise for the treatment of Klippel-Feil syndrome includes accurate diagnoses and comprehensive disease assessment, and multidisciplinary collaboration will be the important direction of clinical practice in the future. Conclusion Ear malformation is one of the most important congenital dysplasias in the KlippelFeil syndrome. Its etiology should be based on research in the development and genetic mechanism. And its diagnosis and treatment should be followed by multidisciplinary collaboration. It is important to pay attention to identifying with ear malformation in other syndromes as well.

关 键 词：KLIPPEL-FEIL综合征 颈椎融合 先天发育异常 耳畸形 听力障碍 

分 类 号：R597[医药卫生—内科学]