Silver-Russell 综合征研究进展

Silver-Russell综合征是一组遗传异质性的疾病,主要临床表现为胎儿严重的宫内生长发育迟缓及出生后生长发育迟缓和矮身材。1953年Silver等首先报道报告了2例先天性的躯体不对称、低体重、矮身材、尿中促性腺激素增高的病例。以后陆续有零散病例报告。目前研究发现此病有三种遗传方式:即母源第7号染色体单亲双体、常染色体显性遗传及常染色体隐性遗传。本文综述了Silver-Russell综合征的临床诊断标准及研究进展。

Advances on Silver-Russell syndrome

Silver-Russell syndrome (RSS) is a group of genetically heterogeneous disorders that principally involved intrauterine growth retardation accompanied by postnatal growth deficiency and short stature. Silver et al. (1953) described 2 unrelated children with congenital hemihypertrophy, low birth weight, short stature, and elevated urinary gonadotrophins. Following,several case reports were reported. At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance. This article reviews the clinical diagnosis and advances on Silver-Russell syndrome.