Literature DB >> 9415602

Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.

S Abe1, S Usami, H Shinkawa.   

Abstract

The present report describes three familial cases of recessive hearing loss associated with enlargement of the vestibular aqueduct (EVA). Six siblings from three families showed EVA. The common characteristic of these patients was the presence of congenital, high-frequency, fluctuating sensorineural hearing loss. These cases suggest that EVA may be a useful discriminator between different types of recessive hearing loss.

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Year:  1997        PMID: 9415602     DOI: 10.1177/000348949710601210

Source DB:  PubMed          Journal:  Ann Otol Rhinol Laryngol        ISSN: 0003-4894            Impact factor:   1.547


  9 in total

1.  A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

Authors:  K Fukushima; N Kasai; Y Ueki; K Nishizaki; K Sugata; S Hirakawa; A Masuda; M Gunduz; Y Ninomiya; Y Masuda; M Sato; W T McGuirt; P Coucke; G Van Camp; R J Smith
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

Review 2.  SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.

Authors:  Taku Ito; Byung Yoon Choi; Kelly A King; Christopher K Zalewski; Julie Muskett; Parna Chattaraj; Thomas Shawker; James C Reynolds; John A Butman; Carmen C Brewer; Philine Wangemann; Seth L Alper; Andrew J Griffith
Journal:  Cell Physiol Biochem       Date:  2011-11-18

3.  Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome.

Authors:  Saumil N Merchant; Hideko H Nakajima; Christopher Halpin; Joseph B Nadol; Daniel J Lee; William P Innis; Hugh Curtin; John J Rosowski
Journal:  Ann Otol Rhinol Laryngol       Date:  2007-07       Impact factor: 1.547

4.  Enlarged vestibular aqueduct in congenital non-syndromic sensorineural hearing loss in egypt.

Authors:  Maha Abou-Elew; Mostafa El-Khousht; Mohamed Sherif El-Minawi; Mona Selim; Ayman Ismail Kamel
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2011-12-27

5.  Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Authors:  Shin-ichi Usami; Shin-ya Nishio; Makoto Nagano; Satoko Abe; Toshikazu Yamaguchi
Journal:  PLoS One       Date:  2012-02-24       Impact factor: 3.240

6.  Cerebrospinal Fluid Leak in Cochlear Implantation: Enlarged Cochlear versus Enlarged Vestibular Aqueduct (Common Cavity Excluded).

Authors:  Giovanni Bianchin; Valeria Polizzi; Patrizia Formigoni; Carmela Russo; Lorenzo Tribi
Journal:  Int J Otolaryngol       Date:  2016-10-26

7.  Cochlear Implantation in Isolated Large Vestibular Aqueduct Syndrome: Report of Three Cases and Literature Review.

Authors:  Rabindra Pradhananga; Kiran Natarajan; AmarNath Devarasetty; Mohan Kameswaran
Journal:  Int Arch Otorhinolaryngol       Date:  2014-11-14

8.  Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.

Authors:  Mirza Jawad Ul Hasnain; Muhammad Shoaib; Salman Qadri; Bakhtawar Afzal; Tehreem Anwar; Syed Hassan Abbas; Amina Sarwar; Hafiz Muhammad Talha Malik; Muhammad Tariq Pervez
Journal:  PLoS One       Date:  2020-01-23       Impact factor: 3.240

Review 9.  [Enlarged vestibular aqueduct syndrome: report of 3 cases and literature review].

Authors:  José A Pinto; Carlos Fernando Mello; Ana Carla S Marqui; Delmer J Perfeito; Roberto D P Ferreira; Rubens H Silva
Journal:  Braz J Otorhinolaryngol       Date:  2005-12-14
  9 in total

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