Objectives: To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.
Methods: A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.
Results: Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child.
Conclusions: This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.
目的: 分析17例软骨发育不全（achondroplasia，ACH）患儿的临床特征及成纤维细胞生长因子受体3（fibroblast growth factor receptor 3，FGFR3）基因变异情况。方法: 回顾性分析2009年1月至2021年10月确诊的17例ACH患儿临床资料及FGFR3基因检测结果。结果: ACH最常见的临床表现是不匀称型身材矮小（100%，17/17）、大头畸形（100%，17/17）、三叉戟手畸形（82%，14/17）、膝内翻（88%，15/17）。最普遍的影像学是根茎状长骨缩短（100%，17/17）和腰椎椎间距变窄（88%，15/17）。主要并发症有骨骼异常（100%，17/17）、中耳功能障碍（82%，14/17）、运动及语言发育迟缓（88%，15/17）、慢性疼痛（59%，10/17）、睡眠呼吸暂停（53%，9/17）、肥胖（41%，7/17）、枕骨大孔缩小（35%，6/17）、脑积水（24%，4/17）。17例（100%）均存在FGFR3基因变异，13例为FGFR3基因c.1138G>A的热点突变；2例FGFR3基因c.1138G>C变异；2例为未报道的变异，其中1例FGFR3基因c.1252C>T变异，1例FGFR3基因c.445+2_445+5delTAGG变异。结论: 该研究检出FGFR3基因未报道变异位点，扩展了ACH基因变异谱。ACH是一种进行性发展的疾病，其相关并发症由多学科团队协作进行终身管理。.
Keywords: Achondroplasia; Child; Fibroblast growth factor receptor 3 gene; Gene mutation.