1例Rubinstein-Taybi综合征的临床分析及文献复习
Chinese Pediatrics Of Integrated Traditional And Western Medicine（2021）
Abstract
本文报道1例CREBBP基因变异导致Rubinstein-Taybi综合征的临床特征及CREBBP基因突变特点.患儿女,2岁,主要表现为精神运动发育迟缓,伴双手拇指及第一脚趾粗大.全外显子测序显示患儿CREBBP基因存在碱基缺失c.3469_3471del,p.val1157del(杂合),父母该位点为正常基因型,提示该变异可能为新生突变.临床上对于不明全因的全面性发育迟缓、神经系统疾病、肢体畸形,采用全外显子测序技术有助诊断,并可根据突变位点评估预后.
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