Audiological and vestibular findings in the Kabuki syndrome

S. Barozzi, F. Di Berardino, F. Atzeri, E. Filipponi, M. Cerutti, A. Selicorni, A. Cesarani

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Since the first description of Kabuki syndrome (KS) in 1981, over 350 cases from a variety of countries have been reported. Even though otolaryngological manifestations are common in KS, only a limited number of the reports provide audiological and vestibular data. The aim of the present study was to investigate the vestibular function and describe the audiological findings in KS. The present study reports no audiological and vestibular features in a group of 10 KS patients (7 males, 3 females), with chronological age ranging from 10 to 25 years (mean age = 14.5): a complete otoneurological and audiological work-up was performed for each patient and included where possible, the measurement of vestibular evoked potentials, caloric tests and static posturography. Hearing loss was found in 65% showing a mix or a conductive impairment; moreover the vestibular function was normal in 95% of the examined ears. In conclusion, audiological and vestibular examination should be considered when evaluating KS subjects.

Original languageEnglish
Pages (from-to)171-176
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number2
DOIs
Publication statusPublished - Feb 2009

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Caloric Tests
Hearing Loss
Evoked Potentials
Ear
Kabuki syndrome

Keywords

  • Caloric tests
  • Hearing loss
  • Kabuki make-up syndrome
  • Vestibular audiological

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Audiological and vestibular findings in the Kabuki syndrome. / Barozzi, S.; Di Berardino, F.; Atzeri, F.; Filipponi, E.; Cerutti, M.; Selicorni, A.; Cesarani, A.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 2, 02.2009, p. 171-176.

Research output: Contribution to journalArticle

Barozzi, S. ; Di Berardino, F. ; Atzeri, F. ; Filipponi, E. ; Cerutti, M. ; Selicorni, A. ; Cesarani, A. / Audiological and vestibular findings in the Kabuki syndrome. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 2. pp. 171-176.
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