Robinow M, Jahrsdoerfer R A
Am J Med Genet. 1979;4(1):89-94. doi: 10.1002/ajmg.1320040110.
We report autosomal dominant atresia and/or stenosis of the external auditory canal with or without conductive deafness. In the family described here the anomaly had occurred in 12 individuals in five generations. Penetrance was very high, expressivity quite variable. The clinical, audiometric, radiographic, and operative findings in three patients (grandfather, father, and son) are presented. This condition has been reported only once previously.
我们报告了常染色体显性遗传性外耳道闭锁和/或狭窄，伴或不伴有传导性耳聋。在此描述的家族中，五代内有12人出现了这种异常。外显率很高，表现度变化很大。本文介绍了三名患者（祖父、父亲和儿子）的临床、听力测定、放射学及手术结果。此前仅有一次关于这种病症的报告。
