Objective To explore the clinical and genetic features of Rubinstein-Taybi syndrome (RSTS). Methods The clinical data of 2 children with RSTS were reviewed and analyzed. Results Two male children (3 years old and 4 months old) were admitted to hospital because of growth retardation. Both of them were characterized by short stature, language and motor retardation, excessive hairiness and cryptorchidism. Case 1 had slightly broad thumbs and toes, and case 2 had distinctive facial features of high arched palate, broad nasal bridge, ptosis, and obviously broad thumbs and toes. Cardiac dysplasia was found in both of them by echocardiography. The c.152T>G (L51X) heterozygous mutation was found in case 1 by high throughput sequencing and genomic chip technology, and this mutation has not been reported. Deletion of 2.5 Mb in chromosome 16p13.3 region was found in case 2. Conclusions The main clinical manifestations of RSTS are excess hair, deformity of thumbs and toes, deformity of the heart development, and growth retardation. Molecular detection can help the clinical diagnosis.%目的 探讨Rubinstein-Taybi综合征(RSTS)的临床表型及遗传学特点.方法 回顾分析2例RSTS患儿的临床资料.结果 2例男性患儿,分别为3岁和4个月,均以发育落后入院.患儿身材矮小,语言、运动发育落后,均存在毛发浓密,发际线较低;例1患儿双拇指/趾稍大,例2有高腭弓、宽鼻梁、眼睑下垂的特殊面容,双拇指/趾明显扁宽;2例患儿均有隐睾.心脏彩超均提示心脏发育异常.采用高通量测序技术及基因组芯片技术进行基因诊断,发现例1 CREBBP基因存在c.152 T>G(L 51 X)杂合突变,该突变未见报道;例2染色体16 p 13.3区域存在2.5 Mb的缺失.结论 RSTS的主要临床表现为毛发浓密、大拇指/趾畸形、心脏发育畸形、生长发育落后等,分子检测有助于临床确诊.
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