Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

作者：Dominique Bonneau, Frank R. Raymond, C Kremer, J M Klossek, Josseline Kaplan, Françoise Patte · 发表于：Journal of Medical Genetics · 年份：1993 · DOI：10.1136/jmg.30.3.253 · 被引用次数：86 · 研究领域：Head and Neck Anomalies、Hearing, Cochlea, Tinnitus, Genetics、Tracheal and airway disorders

Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucociliary clearance in two sibs and we suggest Usher syndrome type I could be a primary ciliary disorder.