Thies C, Sperling K, Reis A, Handrock M
Klinik für HNO-Krankheiten, Plastische Kopf- und Halschirurgie, Klinikum Nord-Heidberg, Hamburg.
HNO. 1998 Aug;46(8):757-61. doi: 10.1007/s001060050307.
Conductive and sensorineural hearing losses are of genetic origin in 20% to 60% of cases. In general, genetic abnormalities are more often expressed as a sensorineural hearing loss than as a conductive hearing loss. At present several genes for sensorineural hearing loss have been isolated. The most common genetically transmitted forms for isolated conductive hearing losses are otosclerosis and small malformations of the ossicles. To date no genes responsible for these deformations have been isolated. We present a family with four siblings having conductive hearing losses caused by ossification of the stapedial tendon. This finding is suggestive of an autosomal recessive inheritance. The early diagnosis of an hereditary conductive hearing loss contains the possibility for permitting normal development of speech.
在20%至60%的病例中,传导性和感音神经性听力损失源于遗传。一般来说,遗传异常更常表现为感音神经性听力损失而非传导性听力损失。目前,已分离出几种导致感音神经性听力损失的基因。孤立性传导性听力损失最常见的遗传传递形式是耳硬化症和听小骨小畸形。迄今为止,尚未分离出导致这些畸形的基因。我们报告一个家族,有四名兄弟姐妹因镫骨肌腱骨化而患有传导性听力损失。这一发现提示为常染色体隐性遗传。遗传性传导性听力损失的早期诊断为言语正常发育提供了可能。