Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old wo...

The large vestibular aqueduct (LVA) syndrome is a congenital malformation that predisposes the patient ultimately to a loss of hearing and possible continuing vestibular disorder. If the LVA patient is diagnosed, it typically is not until later life, when he/she exhibits profound sensorineural hearing loss. To better understand this disorder and to bring it to the attention of audiologists, we ...

BACKGROUND AND OBJECTIVES Cytomegalovirus (CMV) is the most common congenital infection and nongenetic cause of congenital sensorineural hearing loss in the United States. Utah was the first state to pass legislation mandating CMV screening for newborns who fail newborn hearing screening (NBHS). The study objective was to present outcomes of hearing-targeted CMV screening and determine factors ...

Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory di...

OBJECTIVE To determine functional results after lateral semicircular canal fenestration on congenital conductive hearing loss. STUDY DESIGN Case series with chart review. SETTING Amir-Alam otolaryngology tertiary referral center. SUBJECTS AND METHODS Twenty patients with congenital oval window malformations who were not candidates for ossicular reconstruction underwent lateral semicircula...

Background. Congenital CMV (cCMV) is the leading non-genetic cause of sensorineural hearing loss (SNHL) in the U.S. Approximately 40-60% of infants with symptomatic cCMV infection develop long term sequelae such as hearing loss. Currently, there are no identified predictors of hearing loss. The objectiveis to determine clinical predictors of SNHL in infants with symptomatic cCMV infection. Meth...

hearing loss (hl) is the most common sensory defect. various genetic as well as environmental factors have been shown to contribute in it. more than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (arnshl). here, we report a 6-year old female patient with bilateral pre-lingual hl in whom a mutation has been identified in triobp gene (c.6362c>t, s2121l). in s...

Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. Materials and methods: The aim of this study was to study the frequency of GJB2 Mutations in Lor...

Cochlear nerve (CN) aplasia refers to the absence of a visible CN on oblique sagittal magnetic resonance images of the lateral aspect of the inner auditory canal (IAC). Magnetic resonance (MR) is the preferred technique in patients with sensorineural hearing loss and/or vertigo; however, computed tomography (CT) is used to evaluate the IAC or facial nerve canal. Three types of aplasia or hypopl...

INTRODUCTION Hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2-4 cases per 1,000 live births. Sensory-neural hearing loss (SNHL) accounts for more than 90% of all hearing loss. This disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. Given that congenital heart diseases are life-threa...