Treacher-Collins综合征又名Francechetti-Zwahlen综合征,或称第一腮弓综合征,面眶畸形综合征等,是一种先天性畸形疾患。本病有家族性倾向,为常染色体显性遗传,由于胚胎时期第一腮弓多发性发育不良所致。其主要特征是双眼向外下方倾斜、下眼睑内陷、眼眶结构异常、颧骨下陷、下颌短小,并且常有耳廓畸形与外耳道闭锁。本文报告母女二人,均有手部 Treacher-Collins syndrome, also known as Francechetti-Zwahlen syndrome, or the first girdle syndrome, facial orbital malformation syndrome, is a congenital malformations. The disease has a familial tendency for autosomal dominant inheritance, due to the multiple embryonic development of the first multifarial hypoperfusion dysplasia. Its main features are the downward tilt of both eyes, the lower eyelid retraction, orbital abnormalities, zygomatic depression, short mandibular, and often auricular deformity and external auditory canal atresia. This article reports both mother and daughter, both hands