Abstract: Objective To analyze the possible mechanism and prevention of short stature caused by NFⅠthrough the analysis of a pedigree of neurofibromatosis type Ⅰ (NF Ⅰ). Method The clinical data and gene test data of 3 cases of NFⅠwith short stature in a pedigree were retrospectively analyzed. Results The height of two cases of children and their mother were less than 2 standard deviations,all with typical skin changes and varying degrees of skeletal deformity.The bone age of two children lagged behind over 1 year and the level of IGF-1 was lower,with normal thyroid function and no tumor-related abnormalities.Genetic sequencing showed that there was a heterozygous mutation(c.4267A>G) in mother and 2 children diagnosed with NF Ⅰ. Conclusions NFⅠ,one of the special causes of short stature should be given high priority.It is an autosomal dominant disease,and there is no effective treatment for NFⅠ.Therefore,prenatal diagnosis is the most important prerequisite for preemptive families to prevent NF Ⅰ.

Key words: neurofibromatosis type Ⅰ, short stature, growth hormone replacement therapy, tumor

摘要： 目的 对一个因身材矮小就诊被发现的神经纤维瘤病Ⅰ型(NFⅠ)家系进行分析,探讨NFⅠ导致身材矮小的可能机制及防治。方法 回顾性分析一家系中3例NFⅠ伴身材矮小的临床资料及基因检测资料。结果 2例患儿及母亲身高均低于2个标准差,均伴典型的皮肤改变以及不同程度的骨骼畸形;2例患儿骨龄均落后1岁以上,IGF-1水平均低下,甲状腺功能均正常,肿瘤相关检查均未见异常;基因测序显示2例患儿及母亲均存在一处杂合突变c.4267A＞G,确诊为NFⅠ。结论 NFⅠ作为身材矮小的特殊病因之一应该引起高度重视,该病为常染色体显性遗传病,目前尚无特效的治疗方法,对于先证者家庭通过遗传咨询、产前诊断进行预防最为重要。

关键词: 神经纤维瘤病Ⅰ型, 身材矮小, 生长激素替代治疗, 肿瘤