Abstract
The purpose of this study is to describe otological features of two patients with Kabuki syndrome and hearing loss not previously described in medical literature and present the surgical treatment performed and its outcomes. The methods used are report of two patients with Kabuki syndrome with hearing loss, non-consanguineous, detailing the morphological and functional description of their external and middle ears, and review of relevant literature. In both cases, the conductive component of hearing loss was explained by anatomical abnormalities, like ossicular morphological changes, not previously described as part of the syndrome and not by medical history of otitis media. Patients were treated surgically with success: stapedotomy with angular piston stapes prosthesis was performed in one case and ossiculoplasty with incudostapedial joint prosthesis in the other case. The otologic findings described in this paper can be part of the Kabuki syndrome phenotype, and in these cases, the conductive component of the hearing loss was successfully treated by surgery.
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References
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin M, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A. 2011;155:1511–6.
Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet. 1988;31:565–89.
Dupont J, Dias P, Medeira A, Santos H, Cordeiro I, et al. Síndrome de Kabuki: Caracterização de 16 doentes portugueses. Acta Pediatr Port. 2010;41(2):86–91.
Barozzi S, Di Berardino F, Atzeri F, Filipponi E, Cerutti M, Selicorni A, et al. Audiological and vestibular findings in the Kabuki syndrome. Am J Med Genet A. 2009;149A:171–6.
Schrander-Stumpel C, Spruyt L, Curfs L, Defloor T, Schrander J. Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A. 2005;132A:234–43.
Igawa H, Nishizawa N, Sugihara T, Inuyama Y. Inner ear abnormalities in Kabuki make-up syndrome: report of three cases. Am J Med Genet. 2000;92:87–9.
Tekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A. Niikawa–Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities. Int J Pediatr Otorhinolaryngol. 2006;70(5):885–9.
Acknowledgements
I would like to thank to Pedro Henriques, MD, for providing the patients and for his help in reviewing this article.
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Gilberto, N., Santos, R., Sousa, P. et al. New Otologic Features and Surgical Treatment in Two Patients with Kabuki Syndrome. SN Compr. Clin. Med. 1, 392–396 (2019). https://doi.org/10.1007/s42399-019-00062-9
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DOI: https://doi.org/10.1007/s42399-019-00062-9