Audiological and vestibular findings in the Kabuki syndrome
S. Barozzi, F. Di Berardino, F. Atzeri, E. Filipponi, M. Cerutti, A. Selicorni, A. Cesarani
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.
American Journal of Medical Genetics, Part A
https://doi.org/10.1002/ajmg.a.32610
Caloric Tests
Kabuki syndrome
Kabuki make-up syndrome
Vestibular audiological
Genetics(clinical)
Barozzi, S., Di Berardino, F., Atzeri, F., Filipponi, E., Cerutti, M., Selicorni, A., & Cesarani, A. (2009). Audiological and vestibular findings in the Kabuki syndrome. American Journal of Medical Genetics, Part A, 149(2), 171-176. https://doi.org/10.1002/ajmg.a.32610
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.
Barozzi, S, Di Berardino, F, Atzeri, F, Filipponi, E, Cerutti, M, Selicorni, A & Cesarani, A 2009, 'Audiological and vestibular findings in the Kabuki syndrome', American Journal of Medical Genetics, Part A, vol. 149, no. 2, pp. 171-176. https://doi.org/10.1002/ajmg.a.32610
Barozzi S, Di Berardino F, Atzeri F, Filipponi E, Cerutti M, Selicorni A et al. Audiological and vestibular findings in the Kabuki syndrome. American Journal of Medical Genetics, Part A. 2009 Feb;149(2):171-176. https://doi.org/10.1002/ajmg.a.32610
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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title = "Audiological and vestibular findings in the Kabuki syndrome",
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.",
keywords = "Caloric tests, Hearing loss, Kabuki make-up syndrome, Vestibular audiological",
author = "S. Barozzi and {Di Berardino}, F. and F. Atzeri and E. Filipponi and M. Cerutti and A. Selicorni and A. Cesarani",
doi = "10.1002/ajmg.a.32610",
journal = "American Journal of Medical Genetics, Part A",
T1 - Audiological and vestibular findings in the Kabuki syndrome
AU - Barozzi, S.
AU - Di Berardino, F.
AU - Atzeri, F.
AU - Filipponi, E.
AU - Cerutti, M.
AU - Selicorni, A.
AU - Cesarani, A.
N2 - 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.
AB - 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.
KW - Caloric tests
KW - Hearing loss
KW - Kabuki make-up syndrome
KW - Vestibular audiological
U2 - 10.1002/ajmg.a.32610
DO - 10.1002/ajmg.a.32610
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
10.1002/ajmg.a.32610