Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.

TitleDeafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.
Publication TypeJournal Article
Year of Publication1997
AuthorsToutain A, Plée Y, Ployet MJ, Benoit S, Perrot A, Sembely C, Barthez MA, Moraine C
JournalGenetic counseling (Geneva, Switzerland)
Volume8
Issue2
Pagination99-105
Date Published1997
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 bilaterali deafness related to Mondini dysplasiai 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 otitisi 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 fistulai in order to prevent meningitis.

Alternate JournalGenet. Couns.
Citation Key9219007