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腮-耳-肾(branchio-oto-renal,BOR)综合征通常指鳃器、耳、肾的发育畸形,是以耳前凹陷或耳郭前突、听力损害、颈侧窦道、瘘管或囊肿和肾畸形为特征的常染色体遗传病。病变可单独或合并出现,还可伴有耳郭畸形、泪管狭窄、面瘫、眼球上的皮样囊肿和前庭异常。发病率约为1/40000,严重肾畸形占6％,感音性聋占20％,传音性聋占30％,混合性聋占50％,在同一病人的两耳间耳聋类型可不同,耳聋并非进行性加重,但可发生衰退。作者等在丹麦曾报告过3个家庭,本文是第4个家庭,均符合上述遗传规律。
Branchio-oto-renal (BOR) syndrome usually refers to the development of gill, ear and kidney deformities, is auricular ear or ear prick, hearing loss, neck sinus, fistula or cyst And kidney deformities characterized by autosomal genetic disease. Lesions can be alone or in combination, but also associated with malformations of ear, lacrimal duct stenosis, facial paralysis, dermoid cysts and vestibular abnormalities on the eyeball. The incidence is about 1/40000, severe renal malformations accounted for 6%, sensorineural deafness accounted for 20%, acoustic deafness accounted for 30%, mixed deafness accounted for 50%, deafness in the same patient’s ears can be different types, Deafness is not progressive increase, but may decline. The author has reported in Denmark, three families, this article is the fourth family, are in line with the genetic law.