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

被引:36
|
作者
Abe, S [1 ]
Usami, S [1 ]
Shinkawa, H [1 ]
机构
[1] Hirosaki Univ, Sch Med, Dept Otolaryngol, Hirosaki, Aomori 036, Japan
来源
关键词
anomaly; enlargement of vestibular aqueduct; familial disorders; inner ear; recessive hearing loss;
D O I
10.1177/000348949710601210
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
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.
引用
收藏
页码:1063 / 1069
页数:7
相关论文
共 50 条
  • [1] CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
    Isabelle Roux
    Cristina Fenollar-Ferrer
    Hyun Jae Lee
    Parna Chattaraj
    Ivan A. Lopez
    Kyungreem Han
    Keiji Honda
    Carmen C. Brewer
    John A. Butman
    Robert J. Morell
    Donna M. Martin
    Andrew J. Griffith
    Human Genetics, 2023, 142 : 1499 - 1517
  • [2] CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
    Roux, Isabelle
    Fenollar-Ferrer, Cristina
    Lee, Hyun Jae
    Chattaraj, Parna
    Lopez, Ivan A.
    Han, Kyungreem
    Honda, Keiji
    Brewer, Carmen C.
    Butman, John A.
    Morell, Robert J.
    Martin, Donna M.
    Griffith, Andrew J.
    HUMAN GENETICS, 2023, 142 (10) : 1499 - 1517
  • [3] SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct
    Taku Ito
    Julie Muskett
    Parna Chattaraj
    Byung Yoon Choi
    Kyu Yup Lee
    Christopher K Zalewski
    Kelly A King
    Xiangming Li
    Philine Wangemann
    Thomas Shawker
    Carmen C Brewer
    Seth L Alper
    Andrew J Griffith
    World Journal of Otorhinolaryngology, 2013, 3 (02) : 26 - 34
  • [4] Molecular basis of hearing loss associated with enlarged vestibular aqueduct
    Yu Xiaoyu
    Wu Hao
    Yang Tao
    Department of Otorhinolaryngology-Head and Neck Surgery
    Ear Institute
    Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases
    生物组学研究杂志(英文), 2019, 02 (03) : 121 - 124
  • [5] Atypical Patterns of Segregation of Familial Enlargement of the Vestibular Aqueduct
    Muskett, Julie A.
    Chattaraj, Parna
    Heneghan, John F.
    Reimold, Fabian R.
    Shmukler, Boris E.
    Brewer, Carmen C.
    King, Kelly A.
    Zalewski, Christopher K.
    Shawker, Thomas H.
    Butman, John A.
    Kenna, Margaret A.
    Chien, Wade W.
    Alper, Seth L.
    Griffith, Andrew J.
    LARYNGOSCOPE, 2016, 126 (07): : E240 - E247
  • [6] Hearing loss associated with enlargement of the vestibular aqueduct: Mechanistic insights from clinical phenotypes, genotypes, and mouse models
    Griffith, Andrew J.
    Wangemann, Philine
    HEARING RESEARCH, 2011, 281 (1-2) : 11 - 17
  • [7] Vestibular Aqueduct Midpoint Width and Hearing Loss in Patients With an Enlarged Vestibular Aqueduct
    Ascha, Mustafa S.
    Manzoor, Nauman
    Gupta, Amit
    Semaan, Maroun
    Megerian, Cliff
    Otteson, Todd D.
    JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY, 2017, 143 (06) : 601 - 608
  • [8] CONGENITAL HEARING-LOSS ASSOCIATED WITH LARGE VESTIBULAR AQUEDUCT SYNDROME
    CLEMIS, JD
    VALVASSORI, GE
    TRANSACTIONS AMERICAN ACADEMY OF OPHTHALMOLOGY AND OTOLARYNGOLOGY, 1977, 84 (04): : 181 - 181
  • [9] ENLARGEMENT OF THE VESTIBULAR AQUEDUCT
    HILL, JH
    FREINT, AJ
    MAFEE, MF
    AMERICAN JOURNAL OF OTOLARYNGOLOGY, 1984, 5 (06) : 411 - 414
  • [10] Vestibular aqueduct in sudden sensorineural hearing loss
    Sugiura, M.
    Naganawa, S.
    Ishida, I. M.
    Teranishi, M.
    Nakata, S.
    Yoshida, T.
    Nakashima, T.
    JOURNAL OF LARYNGOLOGY AND OTOLOGY, 2008, 122 (09): : 887 - 892