Kumar Sunil, Jain Ap, Agrawal Sachin, Chandran Sindu
Department of Medicine, Mahatma Gandhi Institute of Medical Sciences, Sewagram, Wardha, (Maharashtra), India.
Cases J. 2008 Nov 9;1(1):304. doi: 10.1186/1757-1626-1-304.
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.
一名15岁男性男孩,身体左侧半身肥大,因反复惊厥发作入院。根据临床症状,该患者被诊断为Silver-Russell综合征。Silver-Russell综合征(SRS)是一种非常罕见的遗传性疾病,发病不晚于幼儿期。其通常表现为身体两半或其他部位大小不对称。Silver-Russell综合征大多为散发病例,原因是不明的散发性基因变化(突变)。由于缺乏设备,我们无法进行基因研究。