摘要
目的报告1例新生儿Treacher Collins综合征(Treacher Collins syndrome,TCS),并复习相关文献,以提高对该病的认识和临床诊疗水平。方法对1例生后诊断为TCS的患儿的临床资料和治疗情况进行总结,并结合文献资料进行分析。结果患儿男孩,生后发现面容异常,面部呈鸟脸型,面部较窄,双侧颧骨及下颌骨发育不良,双侧耳廓畸形,外耳道闭锁,双下眼睑下斜,下眼睑缺损,下睫毛缺损,TCOF1基因检测提示,外显子12编码区杂合突变,确诊为TCS,患儿渐出现呼吸困难表现,家长因担心预后不良自动出院,出院2小时后患儿死亡。结论当患儿生后发现面容异常,尤其当有家族史时,需考虑TCS,TCOF1基因检测可作为TCS的重要诊断手段。
Objective： Report an infant with Treacher Collins Syndrome and review the related literature, to raise awareness on the TCS and improve clinical diagnosis and treatment. Method： Clinical data of an infant with TCS and the related literature was collected and analyzed. Results： The infant was male, his face was found abnormal after birth： his face is narrow, like a bird face, bilateral cheekbones and mandibular were hypoplasia, bilateral ear deformed, aural were atresia, double lower eyelid were ramp, lower eyelid defected, lower lashes defected. TCOF1 genetic testing suggests that the coding region of exon 12 was mutated heterozygosisly. Diagnosed as TCS, the infant gradually appeared dyspnea. For fear of poor prognosis, his parents asked to end therapy, and the infant died two hours later after discharged from hospital. Conclusion： When a children was born with face abnormalities, especially when there is a family history, TCS should be considered. TCOF1 genetic testing can be used as an important diagnostic tool of TCS.
出处
《中国优生与遗传杂志》
2015年第5期80-82,共3页
Chinese Journal of Birth Health & Heredity
