大前庭水管综合征的诊断与遗传咨询

王秋菊;杜婉;

1:解放军总医院耳鼻咽喉头颈外科解放军耳鼻咽喉研究所

摘要
<正>在前篇介绍的常染色体隐性遗传性耳聋中,大前庭水管综合征(large vestibular aqueduct syndrome,LVAS)是一种典型的符合该遗传方式的临床常见疾病,本篇将详细介绍大前庭水管综合征的定义、研究历史、诊断策略、病因学研究、临床遗传咨询要点、预防和治疗等内容。大前庭水管综合征是一种临床常见的非综合征型耳聋,表现为感音神经性听力下降伴前庭水管口扩大的内耳畸形,并不伴
关键词
基金项目(Foundation):
国家重大科学研究计划项目(2014CB943001);; 国家自然基金重点国际合作项目(81120108009);; 国家自然科学基金重点项目(81530032)联合资助
作者
王秋菊;杜婉;
参考文献

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王秋菊杜婉