Etiology of Sensorineural Deafness
Pediatric Neurology Briefs, 1996 Children with a bilateral sensorineural hearing impairment averaging 30 dBHL or or more were investigated for possible congenital or intrauterine infection as causes at the Centre for Audiology, Manchester University, UK.
J Gordon Millichap
doaj +1 more source
Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China
Inquiry: The Journal of Health Care Organization, Provision, and Financing, 2022 Background : The GJB2 gene is the most common deafness gene, and epidemic characteristics have obvious racial specificity. Our study aimed to investigate the prevalence and ethnic specificity of the GJB2 gene in deafness in major ethnic groups in ...
Panpan Bian Master +8 more
doaj +1 more source
The relationship between motor proficiency, bilateral vestibular hypofunction and dynamic visual acuity in children with congenital or early acquired sensorineural hearing loss [PDF]
, 2010 Includes bibliographical references (leaves 105-115).The functional integrity of the vestibular system in children is not often tested. Due to the close relationship between the cochlea and the peripheral vestibular system, the function of the vestibular
Geldenhuys, Wilhelmien
core +1 more source
A rare cause for primary amenorrhea: Sporadic perrault syndrome
Indian Journal of Endocrinology and Metabolism, 2012 Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault ...
K H Noorul Ameen, Rakesh Pinninti
doaj +1 more source
Sensorineural hearing loss due to a novel mutation in the PCDH15 gene: A case study
Brain Disorders, 2023 Sensory deafness is a disorder with a broad spectrum of phenotypes. It is associated with genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnosis.
Raidah Albaradie +2 more
doaj +1 more source
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. [PDF]
, 2013 Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene.
Ramesh, V +56 more
core +1 more source
A rare cause for primary amenorrhoea
Journal of Human Reproductive Sciences, 2012 Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault′s
Kaderthambi Hajamohideen Noorul Ameen +1 more
doaj +1 more source
Recurrent Meningitis in Congenital Inner Ear Malformation
Ear, Nose & Throat Journal, 2021 Spontaneous cerebrospinal fluid otorrhea is very rare. Because of nonspecific symptoms, it is usually diagnosed when complications such as meningitis occur.
Aleksander Zwierz MD, PhD +2 more
doaj +1 more source
Remote tentorium meningioma causing sudden sensorineural deafness
, 2008 : Background Sudden sensorineural deafness is a well-known symptom mostly of unknown etiology. Case Description A case of sudden sensorineural deafness is reported to be caused by a small, remote, ipsilateral tentorial meningioma not compressing the ...
Menovsky, Tomas +3 more
core +1 more source
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia [PDF]
, 2017 Propionic acidemia is an inborn error of metabolism caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase. Sensorineural deafness and severe hearing loss have been described as long-term complications of this disease, however, the ...
Bodi, Ilona +5 more
core +1 more source