[摘要] 目的 探讨Rubinstein-Taybi综合征(RSTS)的临床表型及遗传学特点。

    方法 回顾性分析2019年我院门诊确诊的3例RSTS病儿的临床资料。

    结果 3例病儿均有特殊面容、拇指和大趾宽扁、体格及智力发育迟滞等特征。分子遗传学检测显示，3例致病基因均为CREBBP，其中1例携带CREBBP基因c.4890+2T>C杂合变异，为新突变；2例为16p13.3连续缺失，为已知致病突变。

    结论 对于存在特殊面容、宽拇指/趾和生长发育迟缓的病儿应考虑RSTS的可能，CREBBP为该病的主要致病基因之一，基因靶向检测和基因组检测有助于RSTS临床确诊。

    [关键词] Rubinstein-Taybi综合征；疾病特征；基因检测

    [中图分类号] R725.96

    [文献标志码] B

    [文章编号] 2096-5532(2023)01-0139-04

    doi：10.11712/jms.2096-5532.2023.59.032

    [网络出版] https：//kns.cnki.net/kcms/detail/37.1517.R.20230308.1057.015.html;2023-03-09 16：56：31

    CLINICAL AND GENETIC FEATURES OF RUBINSTEIN-TAYBI SYNDROME： AN ANALYSIS OF THREE CASES

    YANG Ning， GU Xiaoran， BAI Lijun

    (Department of Pediatrics， Dezhou People’s Hosipital， Dezhou 253000， China)

    ; [ABSTRACT] "Objective "To investigate the clinical phenotype and genetic features of Rubinstein-Taybi syndrome (RSTS).

    Methods "A retrospective analysis was performed for the clinical data of three children who were diagnosed with RSTS in the outpatient service of our hospital in 2019. ......