Treacher Collins综合征的研究进展  

The research progress of Treacher Collins syndrome

作　　者：王璞[1] 范欣淼 樊悦[1] 陈晓巍[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院耳鼻咽喉科,北京100730

出　　处：《临床耳鼻咽喉头颈外科杂志》2016年第4期333-338,共6页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：国家自然科学基金应急管理项目(No:81450026);"十二五"国家科技支撑计划资助项目(No:2012BAI12B01)

摘　　要：Treacher Collins综合征（TCS,OMIM154500）是常见的下颌面骨发育不全综合征（mandibulofacial dysostosis,MFD）,也称为Franceschetti-Klein综合征,由第一、二鳃弓发育不全引起。多数TCS患者属于常染色体显性遗传方式,致病基因为TCOF1（78%~93%）和POLR1C或POLR1D（8%）,Summary Treacher Collins syndrome（TCS, OMIM 154500）, also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 （78%-93%） and POLR1C or POLR1D （8%） cause the disease. Most of TCS cases are in- herited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from re- constructive to psychosocial. For hearing rehabilitation, TCS patients may have the choices of BAHA, ponto, vi- brant soundbridge or bonebridge implantation. In this review, we summarize the TCS clinical malformations, di- agnosis, genetics, management and auditory rehabilitation.

关 键 词：TREACHER COLLINS综合征 小耳畸形 TCOF1 骨桥 

分 类 号：R764.7[医药卫生—耳鼻咽喉科]