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473 Possible Causes for Profound Deafness

  • Autosomal Recessive Deafness 46

    deafness 1/2,600 newborns – nonsyndromic hearing loss (NSHL) Homozygous for GJB2 variants – 50% Compound heterozygous for GJB2 variant and GJB6 deletion – 2-4% Homozygous[arupconsult.com] ;Speech rehabilitationSummary Objective: Hearing loss is the most common form of sensory impair-ment, with approximately one infant/1000 born with profound congenital deafness[vdocuments.site] The most common cause of severe to profound congenital deafness occurs when a child inherits two copies of an altered gene known as GJB2 which makes a protein called Connexin[boystownhospital.org]

  • Autosomal Recessive Deafness 38

    Material and methods Forty eight multiplex Lebanese families with non-syndromic congenital moderate to profound deafness, from various regions of the country, were included[jmg.bmj.com] [R143W] had also profound deafness while 2 patients compound heterozygotes c. [35delG] [IVS1 1G A] had severe and moderate deafness respectively.[bmcearnosethroatdisord.biomedcentral.com] Deafness.[genome.jp]

  • Autosomal Recessive Deafness 23

    deafness 1/2,600 newborns – nonsyndromic hearing loss (NSHL) Homozygous for GJB2 variants – 50% Compound heterozygous for GJB2 variant and GJB6 deletion – 2-4% Homozygous[arupconsult.com] Material and methods Forty eight multiplex Lebanese families with non-syndromic congenital moderate to profound deafness, from various regions of the country, were included[jmg.bmj.com] Deafness.[genome.jp]

  • Autosomal Recessive Deafness 24

    Material and methods Forty eight multiplex Lebanese families with non-syndromic congenital moderate to profound deafness, from various regions of the country, were included[jmg.bmj.com] ;Speech rehabilitationSummary Objective: Hearing loss is the most common form of sensory impair-ment, with approximately one infant/1000 born with profound congenital deafness[vdocuments.site] Novel mutations of MYO15Aassociated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.[ijbms.mums.ac.ir]

  • Deafness

    Profound hearing loss in childhood has far-reaching consequences for children and their families.[doi.org] Hearing impairment refers to all degrees of loss, from mild to profound. Deafness refers to more severe-to-profound loss.[my.clevelandclinic.org] Profound deafness: Anybody who cannot hear a sound below 90dB has profound deafness.[medicalnewstoday.com]

  • Usher Syndrome

    We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently isolated, congenital profound deafness, with reportedly normal ocular fundus[ncbi.nlm.nih.gov] deafness since birth.[ncbi.nlm.nih.gov] With Usher type III, which affects Rebecca, hearing loss is progressive, generally leading to profound deafness.[rebalexander.com]

  • Autosomal Recessive Deafness 22

    The study of a family from Tunisia identified 22 members with autosomal recessive non-syndromic senorineural hearing loss suggesting that all had profound deafness and the[mybiosource.com] […] associated with progression to profound deafness by the fourth decade of life.[egms.de] Material and methods Forty eight multiplex Lebanese families with non-syndromic congenital moderate to profound deafness, from various regions of the country, were included[jmg.bmj.com]

  • Congenital Deafness

    All children with congenital profound deafness should be screened with an electrocardiogram (an ECG) to see if they might have Long QT Syndrome.[handsandvoices.org] INTRODUCTION: Children with severe to profound sensorineural deafness can acquire vocabulary and syntactic structures to communicate by oral language, after cochlear implant[ncbi.nlm.nih.gov] […] loss right from very subtle through to profound deafness.[abc.net.au]

  • Autosomal Recessive Deafness 1B

    For people with profound deafness, cochlear implants may also be helpful. They may also want to consider enrolling in an educational program for the hearing impaired.[counsyl.com] Material and methods Forty eight multiplex Lebanese families with non-syndromic congenital moderate to profound deafness, from various regions of the country, were included[jmg.bmj.com] The M34T mutation appeared to segregate with profound deafness, but not with the skin disorder, suggesting to Kelsell et al. (1997) that the mutation acted in a dominant manner[catalog.coriell.org]

  • Autosomal Recessive Deafness 42

    Hearing loss for individuals with DFNB1 can be helped with the use of hearing aids or the possibility of cochlear implants for those with profound deafness.[geneaware.clinical.bcm.edu] Deafness.[genome.jp] Periodic surveillance is also important. [2] Epidemiology [ edit ] About 1 in 1,000 children in the United States is born with profound deafness.[en.wikipedia.org]

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