目的 分析FGFR3基因变异患儿的基因型-表型特点，提高临床医生对相关疾病的认识。 方法 回顾性分析2012年1月—2023年12月在上海儿童医学中心经全外显子组测序确诊的95例0~18岁FGFR3基因变异患儿的临床资料，其中22例软骨发育不全（achondroplasia, ACH）患儿和10例软骨发育不良（hypochondroplasia, HCH）患儿纳入后续表型分析。 结果 95例患儿中，52例（55%）为ACH，24例（25%）为HCH，9例（9%）为致死性侏儒症，3例（3%）为综合征型骨骼异常，2例（2%）为严重软骨发育不全伴发育迟缓和黑棘皮病，5例（5%）诊断待明确。c.1663G>T为新发现变异位点。22例ACH患儿均表现为非匀称性矮小伴肢体发育不良，常伴大头畸形、鼻梁凹陷、弓形腿和前额突出，其中17例（77%）合并并发症。10例HCH患儿主要表现为非匀称性矮小、肢体发育不良和鼻梁凹陷。 结论 ACH是FGFR3基因变异最常见的疾病类型，错义变异是其主要变异形式。受体活化程度的强弱与骨骼发育异常临床表型的严重程度有关。

Objective To study genotype-phenotype correlations in children with FGFR3 variants and to improve clinical recognition of related disorders. Methods Clinical data of 95 patients aged 0-18 years harboring FGFR3 variants, confirmed by whole‑exome sequencing at Shanghai Children's Medical Center from January 2012 to December 2023, were retrospectively reviewed. Detailed phenotypic characterization was performed for 22 patients with achondroplasia (ACH) and 10 with hypochondroplasia (HCH). Results Among the 95 patients, 52 (55%) had ACH, 24 (25%) had HCH, 9 (9%) had thanatophoric dysplasia, 3 (3%) had syndromic skeletal dysplasia, 2 (2%) had severe achondroplasia with developmental delay and acanthosis nigricans, and 5 (5%) remained unclassified. A previously unreported FGFR3 variant, c.1663G>T, was identified. All 22 ACH patients presented with disproportionate short stature accompanied by limb dysplasia, commonly with macrocephaly, a depressed nasal bridge, bowed legs, and frontal bossing; complications were present in 17 (77%). The 10 HCH patients predominantly exhibited disproportionate short stature with limb dysplasia and depressed nasal bridge. Conclusions ACH is the most frequent phenotype associated with FGFR3 variants, and missense variants constitute the predominant variant type. The degree of FGFR3 activation appears to correlate with the clinical severity of skeletal dysplasia.