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.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
北大核心
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)