对南京医科大学附属儿童医院内分泌科2018年10月接诊的1例Weaver综合征患儿的临床资料进行回顾性分析。患儿，女，9岁2月龄，因“发现生长较快9年”就诊。患儿出生后发现生长较快，智力反应欠佳，言语不清，视物不清，脸型长，前额突，眼距宽，内眦赘皮，鼻梁塌陷，双手足有指垫，走路步态不协调，双足呈内“八”字。基因检测：n EZH2基因15号外显子c.1720A>G(p.K574E)杂合变异，国内外尚未见报道，经Sanger测序验证，未检测到患儿父母携带该变异，由于该病系常染色体显性遗传，且患儿父母及胞哥均无相应症状，因此推断该突变为自发突变。结合患儿的特殊面容、临床表现及分子遗传学结果，诊断为Weaver综合征。n “,”The clinical data of a case of Weave syndrome admitted in the Department of Endocrinology, Children′s Hospital of Nanjing Medical University in October 2018 were retrospectively analyzed.The patient was a 9 years and 2 months old girl, who was hospitalized because of “ growing too fast for 9 years” . After birth, the child is found to grow fast and have mental retardation, slurred speech, a blurred vision, a long face, a protruding forehead, ocular hypertelorism, epicanthus, nasal bridge pit, finger pads on both hands and feet, uncoordinated gaits, and intoeingpigeon toes.A novel heterozygous c. 1720A>G (p.K574E) mutation was detected in the exon 15 of the n EZH2 gene of the patient.This mutation has not been reported at home and overseas.Sanger sequencing revealed that the patient′s parents did not carry the mutation.The disease is an autosomal dominant genetic disorder, and the parents and sibling of the patient have no corresponding symptoms, so it is inferred that the mutation is spontaneous.Based on the peculiarity of the face, clinical manifestations and the results of molecular genetics, the child was diagnosed as Weaver syndrome.n