Although deafness can be acquired throughout an animal's life from a variety of causes, hereditary deafness, especially congenital hereditary deafness, is a significant problem in several species. Extensive reviews exist of the genetics of deafness in humans and mice, but not for deafness in domestic animals. Hereditary deafness in many species and breeds is associated with loci for white pigme...

We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). The coexistence of these two disorders has not been described previously.

DFNB1 locus has been linked to a nonsyndromic “invisible disability” called congenital sensorineural hearing loss and deafness. Mutations of GJB2 and GJB6 genes are associated with deafness at the DFNB1 locus. The diagnosis of DFNB1 is made with molecular genetic testing. DNA-based testing can be used both prenatally and postnatally. Purpose: To get evidence for implementation of newborn hearin...

Congenital deafness results in synaptic abnormalities in auditory nerve endings. These abnormalities are most prominent in terminals called endbulbs of Held, which are large, axosomatic synaptic endings whose size and evolutionary conservation emphasize their importance. Transmission jitter, delay, or failures, which would corrupt the processing of timing information, are possible consequences ...

BACKGROUND Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required. METHODS We developed a PCR...

Tinnitus is the conscious perception of sound heard in the absence of physical sound sources internal or external to the body. The characterization of tinnitus by its spectrum reflects the missing frequencies originally represented in the hearing loss, i.e., partially or completely deafferented, region. The tinnitus percept, despite a total hearing loss, may thus be dependent on the persisting ...

UNLABELLED Abstract PURPOSE We present the clinical, paraclinical and therapeutic features in a patient with secondary congenital aphakia. METHODS A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical ...