婴幼儿Treacher Collins综合征的CT表现

CT findings of Treacher Collins syndrome in infants

目的:从影像学角度提高对婴幼儿Treacher Collins综合征(Treacher Collins syndrome,TCS)的认识。方法:21例婴幼儿TCS病例,男13例,女8例,最小13天,最大3岁5月,对其CT平扫及重建图像进行回顾性分析总结,并对下颌骨后缩程度进行分型。结果:颧骨发育不全21例,下颌骨发育不全21例,腭裂18例,舌根后坠11例,外耳异常20例,外耳道异常17例,听小骨异常21例,乳突气房硬化表现21例。下颌骨后缩Ⅰ型7例,Ⅱ型6例,Ⅲ型5例,Ⅳ型3例。结论:TCS的CT表现具有一定的特征性,面骨发育不良以颧骨为主,可累及颞骨、上颌骨及下颌骨,同时合并腭裂、外耳及中耳畸形等,婴幼儿期下颌骨后缩的处理关系到TCS的预后,通过CT正中矢状位MPR图像测量下颌后缩角度对下颌后缩进行分型,可指导临床手术。

Objective： To improve the understanding of Treacher Collins syndrome（TCS） in infants from the perspective of imaging. Methods： Twenty-one cases of TCS in infants, 13 males and 8 females, aged fom 13 days to 3 years and 5 months.A retrospective analysis and summary of the plain and reconstructed images of CT was performed. Classification of mandibular retraction was made. Results： Zygomatic hypoplasia in 21 cases, mandibular hypoplasia in 21 cases, 18 cases of cleft palate,tongue retropulsion in 11 cases, 20 cases of abnormal external ear, 17 cases of abnormal external auditory canal, 21 cases showed abnormal ossicles, and mastoid air cells sclerosis in 21 cases. There were 7 cases of mandibular retraction type Ⅰ, 6 cases of type Ⅱ, 5 cases of type Ⅲ, and 3 cases of type Ⅳ. Conclusion： The CT performance of TCS has certain characteristics, dysostosis of facial bone mainly occurs in zygomatic bone, involving the temporal bone, mandible and maxilla, combined with cleft palate, external ear and middle ear malformation at the same time. The management of mandibular retraction in infants is related to the prognosis of TCS. The mandibular retraction angle could be measured on CT median sagittal MPR image, which is used to guide the clinical operation.