论文部分内容阅读
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。
OBJECTIVE: To review and discuss the genetic background, clinical features, diagnosis, treatment and prenatal examination and counseling of TreacherColllins syndrome (TCS) in combination with clinical cases. Methods: To analyze the clinical data of a mother-child TCS patients and to review the relevant literature. Results: The clinical manifestations of patients with TCS varied, the main clinical features of suboccipital oblique incision, small jaw, small ear malformations and other ear deformities. It is recommended that the child first test with bone conduction hearing aids, cochlear implant surgery. CONCLUSION: TCS is an autosomal dominant genetic disease. The gene is located in 5q32-q33.1 (TCOF1 gene, TreacherCollins-Franceschetti Syndrome gene), which is caused by TCOF1 gene mutation. TCS diagnosis should be combined with clinical assessment, imaging studies and molecular genetic tests. Treatment requires multiple disciplines to work together to collaborate, the choice of timing and method of operation is very important, and follow the principle of individualism. For geriatric pregnancies, prenatal care and counseling is required.