Treacher-Collins综合症1例临床病例分析

Clinical analysis of 1 case of neonatal Treacher-Collins syndrome

目的探讨1例Treacher-Collins综合症的临床特点,并明确其诊断及预防的重要性。方法回顾性分析1例Treacher-Collins综合症的临床资料,进行全外显子基因检测。结果患儿面容奇特,合并多脏器功能损害,基因检测提示Treacher-Collins综合症,基因位点脯氨酸移码突变为丙氨酸,并过早产生终止密码子,为杂合突变。结论Treacher-Collins综合症的临床表现轻重不等,容易遗留永久性损害,产前检查可极早发现,产后结合临床表现及基因检测有助于明确病因,早期诊断和干预对本病的治疗及预后有重要意义。

Objective To investigate the clinical features of one case of Treacher-Collins syndrome,and to clarify the importance of diagnosis and prevention.Methods The clinical data of one case of Treacher-Collins syndrome were analyzed retrospectively,and the whole exon gene was detected.Results The child had a strange face,combined with multiple organ function impairment,and genetic testing indicated Treacher-Collins syndrome.The proline frameshift mutation at the gene locus was alanine,and the premature production of stop codons was a heterozygous mutation.Conclusion The clinical manifestations of Treacher-Collins syndrome vary in severity and are easy to leave permanent damage.Prenatal examination can be found very early,and postpartum combination of clinical manifestations and genetic testing can help to clarify the cause.Early diagnosis and intervention are of great significance for the treatment and prognosis of this disease.