4.2 Article

Hereditary isolated ossicular anomalies in two generations of patients

期刊

AURIS NASUS LARYNX
卷 38, 期 1, 页码 114-118

出版社

ELSEVIER SCI LTD
DOI: 10.1016/j.anl.2010.06.003

关键词

Ossicular anomaly; Conductive hearing loss; Heredity

资金

  1. Ministry of Health, Labour and Welfare (Acute Profound Deafness Research Committee)
  2. Ministry of Education, Culture, Sports, Science and Technology in Japan [B-20791189]
  3. Grants-in-Aid for Scientific Research [20791189] Funding Source: KAKEN

向作者/读者索取更多资源

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. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

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