Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Sep 7;91(3):e2020079.
doi: 10.23750/abm.v91i3.8257.

Bonebridge implantation for mixed hearing loss in a patient with Kabuki syndrome

Giovanni Pepe  1 , Maurizio Negri  2 , Maurizio Falcioni  3 , Filippo Di Lella  4 , Vincenzo Vincenti  5
Affiliations
Case Reports

Bonebridge implantation for mixed hearing loss in a patient with Kabuki syndrome

Giovanni Pepe et al. Acta Biomed. .

Abstract

The high prevalence of middle ear disease with related hearing loss in Kabuki syndrome requires the diagnostic and treatment expertise of otologists. This case report describes outcomes and changes in the quality of life of a patient affected by Kabuki syndrome with a history of recalcitrant chronic otitis media and mixed hearing loss who had undergone several unsuccessful surgical procedures before solving his problems by means of subtotal petrosectomy and active middle ear implant.

PubMed Disclaimer

Conflict of interest statement

Each author declares that he or she has no commercial associations (e.g. consultancies, stock ownership, equity interest, patent/licensing arrangement etc.) that might pose a conflict of interest in connection with the submitted article

Figures

Figure 1.
Figure 1.
Initial pure tone audiogram
Figure 2.
Figure 2.
CT scan, axial view. Preoperative measures
Figure 3.
Figure 3.
One-year postoperative CT. Device in retrosigmoidal postion (black arrow) and surgical cavity completely obliterated by abdominal fat
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Cheon CK, Ko JM. Kabuki syndrome: clinical and molecular characteristics. Korean J Pediatr. 2015;58:317–324. - PMC - PubMed
    1. Lepri FR, Cocciadiferro D, Augello B, et al. Clinical and neurobehavioral features of three novel Kabuki syndrome patients with mosaic KMT2D mutations and review of literatrure. Int J Mol Sci. 2018;19 Doi: “http://dx.doi.org/10.3390/ijms19010082. ”10.3390/ijms19010082. - PMC - PubMed
    1. Peterson-Falzone SJ, Golabi M, Lalwani AK. Otolaryngologic manifestations of Kabuki syndrome. Int J Pediatr Otorhinolaryngol. 1997;38:227–36. - PubMed
    1. Vesseur A, Cillessen E, Mylanus E. Cochlear implantation in a Patient with Kabuki Syndrome. J Int Adv Otol. 2016;12:129–31. - PubMed
    1. Schrander-Stumpel CT, Spruyt L, Curfs LM, Defllor T, Schrander JJ. Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A. 2005;132:234–243. - PubMed

Publication types

Supplementary concepts

LinkOut - more resources