“新型”常染色体显性遗传性婴儿感音神经性非进行性高频听力损失：关于一个巴西家庭的报告
"New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family.
作者信息
Zanchetta S, Ohara K, Rodrigues P T, Carvalho E L, Richieri-Costa A
机构信息
Faculdade de Medicina, Universidade de Marília, Marília, São Paulo, Brazil.
出版信息
Am J Med Genet. 2000 Nov 6;95(1):13-6. doi: 10.1002/1096-8628(20001106)95:1<13::aid-ajmg4>3.0.co;2-t.
Abstract
We report on a three-generation Brazilian family with seven patients affected with non-progressive high-frequency sensorineural hearing loss with no associated anomalies first noted in early infancy. To our knowledge this is the first report on this autosomal-dominant condition. Clinical, audiological, and genetic aspects are discussed.
摘要
我们报告了一个三代巴西家庭，其中有7名患者患有非进行性高频感音神经性听力损失，在婴儿早期首次发现时无相关异常。据我们所知，这是关于这种常染色体显性疾病的首次报告。本文讨论了其临床、听力学和遗传学方面。
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