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Silver-Russell Syndrome: A Case Report

机译:银罗素综合症:一例报告

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A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is a very rare genetic disorder that appears no later than early childhood. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. Silver-Russell Syndrome occurs mostly in isolated cases because of sporadic genetic changes (mutations) for no apparent reason. For lack of facilities we were not able to do genetic study.
机译:一名15岁身体偏肥大的男性男孩(左侧)因反复惊厥发作而入院。该患者在临床上被诊断为银-罗素综合症。银-罗素综合症(SRS)是一种非常罕见的遗传性疾病,最早出现于儿童早期。这通常以身体的两半或其他部分的大小不对称为特征。银-罗素综合症多数发生在孤立的病例中,因为没有明显原因的零星遗传变化(突变)。由于缺乏设施,我们无法进行基因研究。

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