关键词: Cantu综合征；　ABCC9基因；　突变

Abstract: 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.

Key words: Cantu syndrome;　ABCC9 gene;　mutation