title: Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.
abstract: Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) with a frequency at around 32%. However the possible mechanisms have not been fully described and hearing loss is often attributed to otitis media, but one reported case had severe ossicular malformations, two had sensorineural deafness and three others had mixed deafness. Our observation is the first reported case of Mondini dysplasia in KS. Awareness by physicians of this problem has a major practical consequence as diagnosis of Mondini dysplasia implies searching for and surgical prevention and treatment of perilymphatic fistula in order to prevent meningitis.
authors.affiliation: Service de Génétique, CHU de Tours, France.
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: Y
authors.initials: Y
authors.lastname: Plée
authors.forename: M J
authors.initials: MJ
authors.lastname: Ployet
authors.forename: S
authors.initials: S
authors.lastname: Benoit
authors.forename: A
authors.initials: A
authors.lastname: Perrot
authors.forename: C
authors.initials: C
authors.lastname: Sembely
authors.forename: M A
authors.initials: MA
authors.lastname: Barthez
authors.forename: C
authors.initials: C
authors.lastname: Moraine
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D004429:Ear Ossicles / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D013577:Syndrome