Alstrom syndrome: progressive deafness and blindness.

Alstrom syndrome is a very rare, genetically transmitted disorder that affects special sense functions, resulting in progressive visual and auditory impairment. The diagnostic criteria for this disorder are presented, and the differential issues between it and other, similar syndromal forms of sensory and multisystem dysfunction are discussed. A report of 2 siblings so involved is summarized. The disability of other organs is considered, namely, the kidney, the heart, and the metabolic and endocrine systems.

作 者：

Welsh,LW

刊 名：

Annals of Otology, Rhinology & Laryngology 

年，卷(期)：

2007vol.116(no.4) 

分类号：

 

关键词：

Adolescent  Audiometry  Blindness  Deafness  Diagnosis, Differential  Disease Progression  测听法  盲  聋  诊断, 鉴别  疾病恶化  疾病遗传易感性  综合征

正文语种：

eng 

基金项目：