Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

Objectives: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay.

Rapidly progressive bilateral postmeningitic deafness in children: Diagnosis and management.

Objectives: To determine the diagnostic approach to severe or profound bilateral postmeningitic deafness and to propose management guidelines.

Material And Methods: A retrospective review of five patients (two adolescents and three infants) with rapidly progressive severe bilateral deafness following an episode of meningitis managed between 2004 and 2010.

Results: The two adolescents presented Neisseria meningitidis meningitis and the three infants presented Streptococcus pneumoniae meningitis.

Laryngeal sensation recovery by reinnervation in rabbits.

Objectives/hypothesis: To assess the possibilities of restoring laryngeal sensation in an animal model by way of the internal branch of the superior laryngeal nerve (ibSLN) bilateral section and anastomosis to itself or to transposition nerves (i.e., lingual, glossopharyngeal, and great auricular nerves).

[Genetic deafness].

Objectives: The aim of this study was to review the different types of genetic deafness.

Methods: We describe syndromic and isolated sensorineural deafness and transmission deafness.

Results: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness.

Results of cochlear implantation in two children with mutations in the OTOF gene.

Objective: The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should be considered: either an auditory neuropathy (a retrocochlear lesion) or an endocochlear lesion.