New Otologic Features and Surgical Treatment in Two Patients with Kabuki Syndrome

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.