目的　探讨Cantu综合征的临床特点。方法　回顾分析1例Cantu 综合征患儿的临床资料及分子遗传学检测 结果，并复习相关文献。结果　男性患儿， 6个月，因多毛及智力运动发育落后就诊。特殊面容，头发浓密、发际低，背部、 四肢多毛，鼻梁低，眼距宽，内眦赘皮，唇厚，舌肥大；发育商落后。基因检测发现患儿ABCC9基因33号外显子c.4040G>T（鸟 嘌呤>胸腺嘧啶）杂合突变，导致氨基酸改变p.Arg1347Leu（精氨酸>亮氨酸），确诊为Cantu 综合征。结论　Cantu综合征 主要表现为先天性多毛症、粗糙的面部特征、智力运动迟缓等，基因检测有助于早期诊断。

Objective　To explore the clinical characteristics of Cantu syndrome. Method　The clinical data and molecular genetic test results of Cantu syndrome in a child were retrospectively analyzed, and pertinent literature was reviewed. Results　A 6-month-old boy visited for hypertrichosis and psychomotor retardation. The patient presented a distinctive facial appearance such as thick scalp hair, low frontal hairline, excessive growth of body hair on the extremities and back, a flat nasal bridge, hypertelorism, epicanthic folds, thick lips and hypertrophic tongue. The patient also had developmental retardation. The heterozygous mutation of c.4040G > T (guanine> thymine) in exon 33 of ABCC9 gene was found by gene detection, which resulted in the amino acid change of p.Arg1347Leu (arginine> leucine), and the child was diagnosed with Cantu syndrome. Conclusion　Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features and psychomotor retardation, and genetic detection is helpful for early diagnosis.