目的 分析CHD7基因变异所致新生儿CHARGE综合征（CHARGE syndrome, CS）的临床表现及遗传学特征。 方法 回顾性分析2019年3月—2025年8月在安徽省儿童医院诊治的7例CS患儿的临床资料，对患儿及其父母进行基因测序。 结果 7例患儿均在生后2 d内就诊。其中5例首诊症状为呼吸困难；6例存在动脉导管未闭；7例存在房间隔缺损、吞咽功能障碍及外耳发育畸形；3例眼部畸形，分别为先天性白内障、视神经发育不良及视盘发育不良。5例患儿于新生儿期死亡；1例1岁9个月时死于重症肺炎；1例随访至4个月，仍不能自行吃奶，完全依赖鼻饲喂养。7例患儿均检出CHD7基因新发杂合变异，包含c.5608‑1G>A、c.687del、c.481C>T、c.3378G>C及8q12.1‑q12.3缺失（950.29 kb）5个未报道的新发变异。 结论 CS临床表现复杂多样，新生儿期出现喂养困难、呼吸困难、外耳畸形等多系统异常应警惕CS。早期基因检测有助于明确致病变异，并为遗传咨询提供关键依据。该研究发现的CHD7新变异丰富了我国CS的基因变异谱。

Objective To study the clinical manifestations and genetic characteristics of CHARGE syndrome (CS) in neonates with CHD7 gene variants. Methods A retrospective analysis was performed on 7 neonates with CS who were diagnosed and treated at Anhui ProvincialChildren's Hospital from March 2019 to August 2025. Genetic sequencing was conducted on the neonates and their parents. Results All 7 neonates presented within 2 days of birth. Five presented with respiratory distress as the primary complaint; six had patent ductus arteriosus (PDA); and all 7 had an atrial septal defect (ASD), dysphagia, and external ear malformations. Three exhibited ocular abnormalities, including congenital cataracts, optic nerve hypoplasia, and optic disc hypoplasia. Five neonates died during the neonatal period; one died at 1 year 9 months of age from severe pneumonia; one was followed up to 4 months of age and remained unable to feed orally, relying entirely on nasogastric tube feeding. All 7 neonates harbored de novo heterozygous CHD7 variants, including five novel variants not previously reported: c.5608-1G>A, c.687del, c.481C>T, c.3378G>C, and an 8q12.1-q12.3 deletion (950.29 kb). Conclusions CS presents with complex and diverse clinical features. Neonates exhibiting multisystem abnormalities such as feeding difficulties, respiratory distress, and external ear deformities warrant suspicion of CS. Early genetic testing facilitates identification of causative variants and provides essential information for genetic counseling. The novel CHD7 variants identified in this study expand the mutation spectrum of CS in China.