Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

SNHL is a major cause of childhood disability worldwide, affecting 6 in 1000 children. For
children with prelingual hearing loss, early diagnosis and treatment is critical to optimizing …

Nonsyndromic hearing loss (NSHL), a common sensory disorder, is characterized by high
clinical and genetic heterogeneity (ie, approximately 115 genes and 170 loci so far …

Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the
population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI …

Background. Specific clinical conditions could compromise cochlear implantation outcomes
and drastically reduce the chance of an acceptable development of perceptual and linguistic …

Abstract Klinefelter syndrome (47, XXY)(KS) is a genetic syndrome characterized by the
presence of an extra X chromosome and low level of testosterone, resulting in a number of …

Objectives To delineate the diagnostic and rehabilitative aspects of syndromes that have
overlapping features, we present the cases of two unrelated Caucasian males affected by …

Objectives The molecular etiology of non-syndromic hearing loss (NSHL) in Southeastern
China (Fujian) has not been precisely identified. our study selected patients with NSHL and …

Syndromic hearing loss (SHL) represent a frequent origin of deafness worldwide. Aiming at
improving the molecular diagnosis of SHL in Morocco, we analyzed two consanguineous …

Usher syndrome is a genetic condition involving Sensorineural hearing loss and Retinitis
pigmentosa (RP). Although considered a rare disease, it is the most frequent cause of deaf …