Ibrahim R A, Linthicum F H
J Laryngol Otol. 1979 May;93(5):495-505. doi: 10.1017/s0022215100087326.
A family with hereditary deafness is presented. The mother and ten of her children suffer sensorineural hearing loss. The maternal grandparents and four uncles and aunts were all hard of hearing. Clinical examination revealed no accompanying gross anomalies. In one child, Mondini deformity is the cause of deafness. In the rest of the family isolated membranous labyrinth deformity is suggested. The methods of early diagnosis are discussed, among which polytomography proved the most reliable for diagnosing Mondini and Michel deformities. We demonstrated how early fitting of hearing aids is essential for language acquisition and speech development. Clinical ability to differentiate between subtypes of inner ear hereditary deafness not accompanied by gross anomalies is limited. This problem and the problem arising from late diagnosis are illustrated by a report on a family of ten children, nine of whom suffer sensorineural hearing loss.
本文介绍了一个患有遗传性耳聋的家庭。母亲及其十个孩子患有感音神经性听力损失。外祖父母以及四个叔叔和阿姨都有听力障碍。临床检查未发现伴有明显异常。在一个孩子中，Mondini畸形是耳聋的原因。在家族中的其他成员中，提示存在孤立性膜迷路畸形。讨论了早期诊断方法，其中断层摄影术被证明是诊断Mondini和Michel畸形最可靠的方法。我们证明了早期佩戴助听器对语言习得和言语发育至关重要。区分不伴有明显异常的内耳遗传性耳聋亚型的临床能力有限。一个有十个孩子的家庭报告说明了这个问题以及因诊断延迟而产生的问题，其中九个孩子患有感音神经性听力损失。
