目的 分析FOXG1相关综合征的临床表型与基因型特点。方法 回顾性分析2018年1月至2022年1月收治的FOXG1相关综合征患儿的临床资料及遗传学检测结果。结果 纳入3例FOXG1相关综合征患儿，均为男性，生后起病，均有早发性运动障碍、全面性发育迟缓、产后小头畸形的表现。全外显子组测序发现3例患儿均具有FOXG1基因致病性变异。颅脑磁共振成像（MRI）特点为额叶皮层和/或胼胝体发育不良或髓鞘化延迟。例1为FOXG1基因N-末端结构域位点c.256dupC（p.Gln86Profs*35）移码突变，例2为FOXG1基因叉头结合域c.595G>T（p.Glu199*）无义突变，例3为FOXG1基因JARID1B结合域c.1178C>A（p.S393*）无义突变，例3临床表型和脑部异常改变轻于其他2例患儿。其中例2和例3患儿的突变之前未见文献报道，扩展了该疾病的基因变异谱。结论 对于有早发性运动障碍、发育迟缓、小头畸形和特异性颅脑影像学表现的个体，应考虑FOXG1基因变异的可能。

Objective To investigate the clinical phenotypic and genotypic features of FOXG1-related syndrome. Methods The clinical data and genetic test results of 3 children with FOXG1-related syndrome treated in our hospital from January 2018 to January 2022 were analyzed retrospectively. Results Three children with FOXG1-related syndrome were included, all male, with postnatal onset. All the patients had early-onset dyskinesia, global developmental delay and microcephaly. Whole exome sequencing showed that all 3 patients had the pathogenic variation of FOXG1 gene. Brain magnetic resonance imaging (MRI) was characterized by hypoplasia of the frontal cortex and/or corpus callosum or delayed myelination. Case 1 had a frameshift mutation of c.256dupC (p.Gln86Profs*35) at the N-terminal domain site in the FOXG1 gene, and case 2 had a nonsense mutation of c.595G>T (p.Glu199*) in the fork-head binding domain of FOXG1 gene. A nonsense of c.1178C>A (p.S393*) was found in the JARID1B binding domain of FOXG1 gene in case 3. Case 3 had a milder clinical phenotype and brain abnormalities than the other 2 patients. The variations of cases 2 and 3 had not been previously reported in the literature, which expanded the gene spectrum of the disease. Conclusions FOXG1 variation should be considered for individuals with early-onset dyskinesia, developmental delay, microcephaly and characteristic brain imaging lesions.