Rubinstein-Taybi Syndromep300-CBP Transcription FactorsRubinstein-Taybi综合征In this review a short overview of pertinent clinical and molecular data of the Rubinstein-Taybi syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients ...
Rubinstein-Taybi Syndrome属于一种影响智力发育的罕见遗传病。大约10万新生儿中会出现一例。绝大多数患病的新生儿家庭没有家族遗传史,这些新生儿通常来说是这些家庭中唯一的患者。 临床症状 患有Rubinstein-Taybi Syndrome的病患有明显的面部和外形特征。面部特征包括突出的鼻子和鼻柱骨(columella)。外形特征包括身材矮胖,...
We report a two-year old male patient, with Rubinstein-Taybi syndrome, phenylketonuria and hepatoblastoma. The patient, GP, was the first child of a 35-year old gravida 2 para 0-0-1-0 mother. The mother has mitral valve prolapse and left conductive hearing loss secondary to abnormal ...
Rubinstein-Taybi Syndrome是什么？Rubinstein-Taybi Syndrome（RTS）是一种罕见的遗传性疾病，主要表现为：...
Rubinstein-Taybi syndrome is a genetic syndrome characterized by broad thumbs and large toes, growth retardation, mental deficiency and dysmorphic facies. We report a case of Rubinstein-Taybi Syndrome associated with congenital hypothyroidism and hypertrichosis, because of its rarity.Köklü Esad...
Rubinstein-Taybi综合征(Rubinstein-Taybi syndrome,RSTS)是一种少见的常染色体显性遗传基因疾病,1963年由Rubinstein等初次报道,在人群中的发病率约为1∶125 000 [ 1 ]。目前已知的致病基因为两个同源基因CREBBP (MIM 600140)和EP300 (MIM 602700),分别占RSTS的50%~70%和5%~8% [ 2 ]。本文通过对1例就诊于...
Rubinstein-Taybi综合征(Rubinstein-Taybi syndrome,RSTS)又称宽拇指巨趾综合征,由Rubinstein和Taybi [ 1 ]于1963年首次报道,是一种罕见的常染色体显性遗传病,发病率为1∶100 000~1∶125 000。Rubinstein-Taybi综合征的主要临床表现为生长发育落后、智力偏低、小头畸形、特殊面容(如钩状鼻、向下倾斜的睑裂、长睫毛...
目的总结Rubinstein-Taybi综合征(RSTS)的基因变异类型和临床表型特点,探讨其基因型与表型的相关性。 方法病例系列研究,收集2013年1月至2022年7月就诊于首都儿科研究所附属儿童医院,通过全外显子测序或染色体芯片、拷贝数变异测序,检出CREBBP或EP300基因变异的21例RSTS患儿的病例资料。总结其基因变异类型并回访其表型数目...
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However
In1963, Rubinstein and Taybi described a new syndrome characterized by broad thumbs and toes, facial abnormalities, and mental retardation. The prevalence of Rubinstein-Taybi syndrome (RTS) is estimated to be 1 in 100,000–1 in 125,000 live births in the Netherlands. ...