Abstract
对武汉儿童医院遗传代谢内分泌科诊断的1例多毛软骨发育不良(即Cantu综合征)患儿的临床资料进行回顾性分析。患儿，女，1岁8个月。毛发浓密1年余。查体：前额突出，较窄，耳位低，鼻梁塌，鼻头大，内眦赘皮，嘴唇厚，高颚弓；皮肤色泽偏黑，颜面部、额头、四肢、腰背部、臀部毛发旺盛。脊柱正侧位片示L1-2椎体形态欠规则。基因检测结果显示ABCC9基因存在杂合突变：c.3347G>A(鸟嘌呤>腺嘌呤)，导致氨基酸改变p.R1116H(精氨酸>组氨酸)，为已报道的致病突变位点。提示Cantu综合征为罕见的常染色体显性遗传病，以多毛、面容异常、心血管及骨骼异常为临床特点，检测ABCC9基因或KCNJ8基因有助于诊断。
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