KBG综合征的听力学表型1例报告并文献回顾

Audiological phenotypes of KBG syndrome:a case report and literatures review

KBG综合征是由ANKRD11基因突变引起的一种罕见的多系统常染色体显性遗传疾病。本文报道的1例患者有一系列相关的临床症状,包括听力丧失、身材矮小、上中门齿巨齿症和智力迟钝,诊断为KBG综合征。纯音测听显示双侧传导性听力损失,颞骨CT显示双侧中耳听骨链畸形,X线显示骨龄只有5岁左右,基因检测提示有ANKRD11的新生突变。本文简要分析KBG综合征的听力学表型特征,以期提高临床对该病的重视。

KBG syndrome is an uncommon autosomal dominant inheritance disease involving multiple systems caused by mutations of ANKRD11 gene.The patient,who has a series of symptoms including hearing loss,short stature,macrodontia of upper central incisors and mental retardation,was diagnosed with KBG syndrome.Pure tone audiometry showed bilateral conductive hearing loss,the temporal bone CT suggested there were deformed ossicular chain in bilateral middle ears,and X-ray showed bone age was only five years old or so,what is the most important is that genetic testing prompted a de novo mutation of ANKRD11.The aim of this article was to briefly analyze the audiological phenotypic characteristics of KBG syndrome and hope to improve the clinical attention to this disease.