首页> 外文期刊>Journal of Oral and Maxillofacial Surgery >Rare occurrence of myositis ossificans traumatica in a patient with Rubinstein-Taybi syndrome.
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Rare occurrence of myositis ossificans traumatica in a patient with Rubinstein-Taybi syndrome.

机译:Rubinstein-Taybi综合征患者中骨化性肌炎很少发生。

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摘要

Rubinstein-Taybi syndrome (RTS) is a well-known syndrome comprising multiple congenital anomalies characterized by mental and growth retardation, broad thumbs and great toes, and unusual facial features (Rubinstein and Taybi, 1963) It is caused by either a microdeletion at 16p1.33 or mutations in the CREB- binding protein (CREBBP or CBP) or EP300 gene (at 22q13) Because there are no chromosomal or biochemical markers for the laboratorial examinations, the diagnosis is made mainly by clinical and radiologic examination.
机译:Rubinstein-Taybi综合征(RTS)是一种众所周知的综合征,包括多种先天性异常,其特征是精神发育迟缓,拇指和脚趾宽大,面部特征异常(Rubinstein和Taybi,1963年),可能是由于16p1的微缺失引起的.33或CREB结合蛋白(CREBBP或CBP)或EP300基因的突变(在22q13处)由于实验室检查没有染色体或生化标志物,因此诊断主要通过临床和放射学检查进行。

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