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Ent manifestations of kabuki syndrome: report of three cases.

Author: 
Nasrine Siham MEHTARI, Mohammed SAHRAOUI and Isma BRAHAMI
Subject Area: 
Health Sciences
Abstract: 

The Kabuki syndrome is a rare genetic disorder, mainly associating an intellectual deficit, a polymalformative syndrome and specific morphological variations of the face allowing the diagnosis. It is also a rare cause of syndromic deafness. The aim of our work is to draw the practitioner's attention to the ENT manifestations of this syndrome as well as the clinical and therapeutic particularities of the hearing loss associated with it. We report the case of 3 children seen in consultation. Each child has an ENT and general clinical examination, impedancemetry, ABR and ASSR exploration. Due to its characteristic facial dysmorphism, ENT clinical manifestations are almost constant in Kabuki syndrome. Deafness is one of the handicaps frequently encountered in these patients and must be systematically screened. The early and adequate management of ENT manifestations contributes to reducing the significant morbidity presented by these patients. Kabuki syndrome should be kept in mind when evaluating an individual with syndromic hearing loss.

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