3-M综合征并生长激素治疗一例

A case of 3-M syndrome treated with growth hormone therapy

3-M综合征是一种少见的常染色体隐性遗传病。该文报道1例因身材矮小就诊最后确诊为3-M综合征的患者,通过对该患儿的临床资料及相关检查结果分析,发现该综合征常见致病基因之一OBSL1基因的新发致病位点,即OBSL1基因(NM001173408)纯合移码突变。该例通过生长激素注射治疗来改善终身高,随访2年,患儿身高增长16 cm,家属对患儿身高增长情况较满意,同时也为该类疾病治疗提供经验。

3-M syndrome is a rare autosomal recessive genetic disorder.In this article,one patient with short stature was admitted to our hospital and eventually diagnosed with 3-M syndrome.Comprehensive analyses of clinical data and relevant examination results of this child found that a novel pathogenic OBSL1 gene loci,namely OBSL1(NM001173408)homozygous frameshift mutation.OBSL1 gene is one of the common pathogenic genes.The clinical manifestations and prognosis were understood.The growth hormone injection therapy was employedto improve the adult height.During 2 years of follow-up,the child’s height increased by 16 cm,the parents were satisfied with the height growth of the child.This case can provide experience for the treatment of this kind of disease.