Treacher Collins综合征病例报告及文献复习

Treacher Collins syndrome: case report and literature review

目的:结合临床病例,复习并探讨TreacherColllins综合征(TCS)的遗传学背景、临床特征、诊断、治疗和产前检查与咨询。方法:分析一母子TCS患者的临床资料,并复习有关文献。结果:TCS患者临床表现多样,主要临床特征为眼裂下斜、小颌、小耳畸形和其他耳部畸形等。建议该患儿先试配骨导式助听器,行人工耳蜗植入术。结论:TCS是一种常染色体显性遗传性疾病,基因定位于5q32-q33.1(TCOF1基因,TreacherCollins-FranceschettiSyndromegene),因TCOF1基因突变而致病。TCS诊断要结合临床评估、影像学检查和分子遗传学检查。治疗上需多个学科医师共同协作完成,手术时机和方法的选择十分重要,并遵循个体化原则。对于有遗传危险的妊娠,需行产前检查和咨询。

Objeetive：To study the genetic background, clinical features, diagnosis, management, and prenatal testing and conseling of Treacher Collins syndrome （TCS）. Method：The clinical data of a patient and his mother suffering from TCS was reported and the relevant literatures were also reviewed. Result：TCS is an autosomal dominant disorder characterized by craniofacial mal-development, including antimongoloid slant of the eyes, micrognathia, microtia and other deformity of the ears. TCS results from the mutation in TCOF1 gene （Treacher Collins-Franceschetti Syndrome gene）, located in 5q32-q33.1. Diagnosis of TCS is made through clinical evaluation, radiographic examination, and molecular genetic analysis. Treatment is tailored to the specific needs of each individual by a muhidisciplinary craniofacial management team. The chosing of optimal operation time and method is very important. Prenatal testing and genetic counseling for risky pregnancy is necessary. Conclusion：The stepwise regimen of treatment is craniofacial reconstruction, orthognathic procedures, orthodontic alignment of the teeth, nasal reconstruction, external ear reconstruction and external auditory canal and middle ear reconstruction.