Nakanishi Hiroshi, Mizuta Kunihiro, Hamada Noboru, Iwasaki Satoshi, Mineta Hiroyuki
Department of Otolaryngology, Hamamatsu University School of Medicine, Higashi-ku, Japan.
Auris Nasus Larynx. 2011 Feb;38(1):114-8. doi: 10.1016/j.anl.2010.06.003. Epub 2010 Aug 19.
We present herein a report of an isolated form of ossicular anomaly that affected two generations of patients. Two female patients, a mother and daughter, were admitted with complaints of conductive hearing loss, with no other anomalies and no history of ear infection. Surgical exploration revealed identical ossicular anomalies: the complete absence of the long process of the incus and fixation of the stapes. This anomaly can be considered to have been inherited in an autosomal-dominant or X-linked-dominant manner. To date, two reports have described isolated forms of congenital ossicular anomalies. Our findings suggest that isolated congenital anomalies can be inherited.
我们在此报告一种孤立形式的听小骨异常，该异常影响了两代患者。两名女性患者，一位母亲和女儿，因传导性听力损失前来就诊，无其他异常，也无耳部感染病史。手术探查发现了相同的听小骨异常：砧骨长突完全缺失以及镫骨固定。这种异常可被认为是以常染色体显性或X连锁显性方式遗传的。迄今为止，已有两份报告描述了先天性听小骨异常的孤立形式。我们的研究结果表明，孤立性先天性异常可能是可遗传的。
