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,...
Rubinstein-Taybi syndrome, CREBBP, EP300BackgroundRubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism....
Rubinstein–Taybi syndromeCBPp300diagnostic algorithmmanagementSynonyms Broad thumbs and great toes; Characteristic facies, and mental retardation; Broad thumb-hallux syndrome; RSTS Definition and Characteristics Rubinstein-Taybi syndrome (OMIM #180849) 1 is a rare congenital disorder characterized by ...
Rubinstein-Taybi Syndrome（RTS）是一种罕见的遗传性疾病，主要表现为：身材矮小，智力障碍，面部特征明显...
Then, the patient was diagnosed with Rubinstein-Taybi syndrome based on the clinical presentation and the results of CREBBP gene mutation analysis. Treatments methodsAnti-infective treatment, nebulized inhalation, nasal feeding, and other symptomatic treatments were given for pneumonia; cryptorchid ...
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...
What Causes Rubinstein-Taybi Syndrome? The most common cause of RTS is the development of a new genetic mutation that typically isn’t carried by the parents. For parents who have no genetic markers for RTS but have a child who is born with this new gene mutation, the chance of having a...
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综合征是英文Rubinstein-Taybi syndrome的中文翻译。这一疾病又叫做;Rubinstein-Taybi综合征, 大拇指综合征, 巨指( 趾) 综合征。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止Rubinstein-Taybi综合征在后代或者二胎中的出现。根据《人的基因序列...
Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndro... Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome)... J Kanita...