Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents

C Aimoni, A Ciorba, L Cerritelli, S Ceruti… - International journal of …, 2017 - Elsevier
Abstract Background Enlarged Vestibular Aqueduct (EVA) is one of the most common
congenital malformations associated with sensorineural or mixed hearing loss. The …

[HTML][HTML] Genetic determinants of non-syndromic enlarged vestibular aqueduct: a review

S Roesch, G Rasp, A Sarikas, S Dossena - Audiology Research, 2021 - mdpi.com
Hearing loss is the most common sensorial deficit in humans and one of the most common
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct

X Pang, Y Chai, P Chen, L He, X Wang, H Wu… - International Journal of …, 2015 - Elsevier
Objectives Recessive mutations of SLC26A4 are the major cause of hearing impairment
associated with enlarged vestibular aqueduct (EVA). In a significant percentage of non …

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss

Y Okamoto, H Mutai, A Nakano, Y Arimoto… - The …, 2014 - Wiley Online Library
Objectives/Hypothesis To investigate possible association of hearing loss and SLC26A4
mutations with the subgroups of enlarged vestibular aqueduct (EVA) morphology in …

[HTML][HTML] Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features

F Forli, F Lazzerini, G Auletta, L Bruschini… - European Archives of …, 2021 - Springer
Purpose When referring to enlarged vestibular aqueduct (EVA) we should differentiate
between nonsyndromic enlarged vestibular aqueduct (NSEVA) and Pendred Syndrome …

Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome

F Zhao, L Lan, D Wang, B Han, Y Qi, Y Zhao… - Acta Oto …, 2013 - Taylor & Francis
Conclusion: In children with enlarged vestibular aqueduct syndrome (EVAS), their hearing
was more related to genotype than VA size, and VA size was related to genotype. Objective …

SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

T Ito, BY Choi, KA King, CK Zalewski… - Cellular Physiology and …, 2011 - karger.com
Enlargement of the vestibular aqueduct (EVA) is the most common inner ear anomaly
detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an …

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct

JA Muskett, P Chattaraj, JF Heneghan… - The …, 2016 - Wiley Online Library
Objectives/Hypothesis Hearing loss and enlarged vestibular aqueduct (EVA) can be
inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In …

Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome

F Zhang, X Bai, Y Xiao, X Zhang, G Zhang, J Li… - International Journal of …, 2016 - Elsevier
Objective To investigate the genetic causes of hearing loss in a two generation Chinese
family with enlarged vestibular aqueduct syndrome (EVAS). Methods Clinical and genetic …

Significance of unilateral enlarged vestibular aqueduct

J Greinwald, A DeAlarcon, A Cohen… - The …, 2013 - Wiley Online Library
Objectives/Hypothesis To describe the clinical phenotype of pediatric patients with unilateral
enlarged vestibular aqueduct (EVA) and then to compare the findings to two clinically …