Cantu综合征1例报告及文献回顾

The Cantu syndrome: a case report and literature review

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.