Hereditary isolated ossicular anomalies in two generations of patients

Auris Nasus Larynx. 2011 Feb;38(1):114-8. doi: 10.1016/j.anl.2010.06.003. Epub 2010 Aug 19.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Ear Ossicles / abnormalities*
  • Female
  • Hearing Loss, Conductive / congenital
  • Humans
  • Incus / abnormalities
  • Stapes / abnormalities