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作者报道一家族中常染色体显性的感音神经性聋患者3例,患者无其他畸形。患者接受广泛的临床和实验室评价。CT显示患者有不同程度的双侧先天性内耳异常。内耳结构异常的程度与听力损害的严重性相关。前庭功能试验结果揭示了其非特异性的异常与听力学和放射学检查所见有着广泛的联系。据信这是首次详细的家族性具有Mondini发育不良部分特征的临床研究。Mondini(1791)首次描叙了一例患先天性耳聋8岁男孩内耳骨和膜性结构发育不良。其最显著的畸形是耳蜗缩短1 1/2转,不严重的畸形包括前庭导水管膨胀和前庭扩大。作者报道的内耳畸形均有不同程度的双侧耳蜗
The authors report a family of autosomal dominant sensorineural hearing loss in 3 patients, patients with no other deformities. Patients receive a wide range of clinical and laboratory evaluations. CT showed patients with varying degrees of bilateral congenital internal ear abnormalities. The extent of structural abnormalities in the inner ear is related to the severity of the hearing impairment. The results of the vestibular function test revealed that the nonspecific abnormalities have a broad relationship with audiology and radiological findings. It is believed that this is the first clinical study of the familial features of Mondini dysplasia. For the first time, Mondini (1791) described an inner ear bone and membranous dysplasia in an 8-year-old boy with congenital deafness. The most significant deformity is the shortening of the cochlea 1 1/2 turn, less serious deformities include vestibular aqueduct expansion and vestibular enlargement. The authors reported that the inner ear deformity has varying degrees of bilateral cochlea