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Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci have been identified for the recessive forms (DFNB loci). For two of them, DFNB1 and DFNB2, the genes responsible have been characterized; they encode connexin 26 and myosin(More)
BACKGROUND DFNB1, the locus of an autosomal recessive form of deafness due to mutations in the connexin-26 gene (CX26 or GJB2) is one of the most frequent hereditary defects in human beings. To date, no clinical characterisation of the DFNB1 inner-ear defects has been reported, which precludes the provision of prognostic information and genetic counselling.(More)
AIMS The purpose of the study was to define boundaries between endocochlear hearing loss and auditory neuropathy in children with congenital profound hearing loss and positive otoacoustic emissions. PATIENT A child presented with bilateral profound hearing loss, which was confirmed by the absence of evoked auditory potentials at 110 dB and with conserved(More)
Indications for cochlear implants have been widened since 1995. Most implant candidates are children with severe congenital deafness. The cochlear implant must be inserted as early as possible for these children in order to optimize development of perception and language. A cochlear implant can also be discussed in certain particular cases for children with(More)
OBJECTIVE To evaluate surgical aspects and results of cochlear implantation in inner ear malformations. STUDY DESIGN Retrospective cohort study. SETTING Ear, nose, and throat department of a tertiary referral hospital. PATIENTS Out of 260 implanted children, 18 (6.9%) had inner ear malformations: complex cochleovestibular malformation (n = 11), common(More)
OBJECTIVE To analyze speech in children with profound hearing loss following congenital cytomegalovirus (cCMV) infection with cochlear implantation (CI) before the age of 3 years. MATERIAL AND METHODS In a cohort of 15 children with profound hearing loss, speech perception, production and intelligibility were assessed before and 3 years after CI;(More)
To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic(More)
Choanal atresia may be associated with other cranio-facial malformations, including various degrees of nasal fossa malformation, and may be a part of paramedian facial clefts (as described by Tessier et al. [1977]). We identified five such cases with combined clinical elements corresponding to Tessier's paramedian facial cleft, including eyelid coloboma,(More)
The recording of auditory brain stem potentials evoked by electrical stimulation of the cochlea is a part of our assessment protocol before pediatric cochlear implantation. It constitutes an objective and reproducible method to estimate the stimulability of the auditory system for candidates to cochlear implant. Ten children, aged from 3 to 12 years, with(More)