Rubinstein-Taybi综合征一例报告

Rubinstein-Taybi Syndrome:A Case Report

目的探讨Rubinstein-Taybi综合征的临床症状、遗传特点及诊疗策略。方法对2020年3月郑州大学第五附属医院儿童康复科收治的1例临床表现符合Rubinstein-Taybi综合征诊断的患儿,分析其临床特征,同时采用二代测序技术进行CREBBP基因分析,并进行全面康复治疗。结果患儿存在身材矮小,小头畸形,发际线低,眼距宽,睑下垂,高眉弓,拇指和第一脚趾短而宽,且伴有智力低下及语言发育落后等症状;在患儿的16号染色体CREBBP基因上存在一个杂合突变位点c.4268dupC(插入突变),该突变在父母双方均未检出,考虑为Denovo突变;且系统康复治疗疗效一般。结论Rubinstein-Taybi综合征主要临床表现为智力低下、生长发育不足、特殊面容及宽大拇指足趾等;CREBBP基因上的c.4268dupC为引起该综合征的突变位点;康复治疗策略有待进一步研究。

Objective To explore the clinical symptoms,genetic characteristics,and diagnostic strategy of Rubinstein-Taybi syndrome(RSTS).Methods To analyze the clinical features of a child with Rubinstein-Taybi Syndrome who was admitted to the children’s Rehabilitation Department of Zhengzhou University in March 2020,at the same time,the CREBBP gene was analyzed by second-generation sequencing technique,and the patients were treated with comprehensive rehabilitation therapy.Results The children had short stature,microcephaly,low hairline,wideset eyes,drooping eyelids,high eyebrow arch,short and wide thumbs,and first toes,and accompanied by mental retardation and language development.A heterozygous mutation in the child’s chromosome 16 CREBBP gene,C.4268 DUPC(insertion mutation),was not detected in either parent and considered a Denovo Mutation,and systematic rehabilitation therapy was not effective.Conclusion The main clinical manifestations of Rubinstein-Taybi syndrome were mental retardation,growth deficiency,special facial features,and big toe and so on,c.4268-dupC in the CREBBP gene is the mutation site causing the syndrome;the strategy of rehabilitation therapy needs to be further studied.