Treacher Collins综合征的研究进展

The research progress of Treacher Collins syndrome

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.