Van der Hoeve综合征一家系听力学调查  

Audiologic investigation of a family with Van der Hoeve syndrome

作　　者：张延平[1] 周凤书[2] 黄德亮[1] 张宗霖[2] 孙玉蕊[2] 黄尚志[3] 谢放平[2] 陈嵘[2] 

机构地区：[1]北京中国人民解放军总医院耳鼻咽喉-头颈外科,100853 [2]中国人民解放军309医院耳鼻咽喉科 [3]中国协和医科大学基础医学研究所遗传学教研室

出　　处：《耳鼻咽喉（头颈外科）》2003年第3期131-133,T001,共4页Chinese Arch Otolaryngology-Head Neck Surg

摘　　要：目的:报导— Van der Hoeve综合征家系并进行听力学检测。方法:对家系进行纯音测听、摄全身骨骼X线片,采集外周静脉血进行基因连锁分析。结果:家系4代24人,听力下降4例7耳,其中传导性聋3例5耳,混合性聋1例2耳。听力下降发生年龄最小5岁,随年龄增加,骨导听力逐渐下降,听力损失加重,出现混合性聋。其中有蓝色巩膜、骨折、传导性聋3人,蓝色巩膜、传导性聋3人,仅有蓝色巩膜1人。骨折幼年发病,多发生在四肢管状骨及锁骨,1例后遗畸形。结论:家系疾病连续多代遗传,符合单基因常染色体显性遗传,且外显率较高,属综合征性遗传性聋。Objective: To analyze the audiologic data collected from a family with Van der Hoeve syndrome. Method: There were eight patients in this family, in which 7 indivioduals provided audio-logic data. Results: Of the 7 individulas who provided the audiologic data, 4 individuals were involved with hearing loss in which one pateint had mixed deafness, and three had conductive hearing loss. The minimum age of the appearance of the deafness was 5. The deafness became serious gradually with the age increasing. Three individuals had all the three symptoms. Conclusion: The medical history and the audiologic data showed that this hearing impariment are syndromic autosomal dominant hearing loss.

关 键 词：耳聋 VAN der Hoeve综合征 家系调查 听力学 基因连锁分析 外周静脉血 常染色体显性遗传 成骨不全 

分 类 号：R764[医药卫生—耳鼻咽喉科]