Literature DB >> 2012192

Otologic findings of DIDMOAD syndrome.

K Higashi1.   

Abstract

Two brothers with DIDMOAD (Wolfram) syndrome are described. The elder brother is 12 years old and was diagnosed as having diabetes mellitus at five. He later developed optic atrophy. The younger brother is 10 years old. He also has suffered from diabetes mellitus and optic atrophy. Their audiograms showed moderate hearing loss only at 8000 Hz. Auditory brainstem response (ABR) was normal. No vestibular abnormalities were found. In 151 reported cases, including present cases, 17.4 percent have moderate to severe or at least subjective deafness, 45.0 percent have deafness only at high frequency, 6 percent have deafness for which the severity was not described, 13.4 percent have normal hearing, and in 18.1 percent the status of hearing was not mentioned.

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Year:  1991        PMID: 2012192

Source DB:  PubMed          Journal:  Am J Otol        ISSN: 0192-9763


  7 in total

1.  Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Authors:  I N Bespalova; G Van Camp; S J Bom; D J Brown; K Cryns; A T DeWan; A E Erson; K Flothmann; H P Kunst; P Kurnool; T A Sivakumaran; C W Cremers; S M Leal; M Burmeister; M M Lesperance
Journal:  Hum Mol Genet       Date:  2001-10-15       Impact factor: 6.150

2.  Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.

Authors:  Marci M Lesperance; James W Hall; Theresa B San Agustin; Suzanne M Leal
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2003-04

3.  The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells.

Authors:  Kim Cryns; Sofie Thys; Lut Van Laer; Yoshitomo Oka; Markus Pfister; Luc Van Nassauw; Richard J H Smith; Jean-Pierre Timmermans; Guy Van Camp
Journal:  Histochem Cell Biol       Date:  2003-02-19       Impact factor: 4.304

4.  Audiologic and vestibular findings in Wolfram syndrome.

Authors:  Roanne K Karzon; Timothy E Hullar
Journal:  Ear Hear       Date:  2013 Nov-Dec       Impact factor: 3.570

5.  Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Authors:  Giuseppina Salzano; Luciana Rigoli; Mariella Valenzise; Roberto Chimenz; Stefano Passanisi; Fortunato Lombardo
Journal:  Int J Environ Res Public Health       Date:  2022-01-04       Impact factor: 3.390

6.  A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

Authors:  Naomi F Bramhall; Jeremy C Kallman; Aimee M Verrall; Valerie A Street
Journal:  BMC Med Genet       Date:  2008-06-02       Impact factor: 2.103

Review 7.  Wolfram Syndrome: Diagnosis, Management, and Treatment.

Authors:  Fumihiko Urano
Journal:  Curr Diab Rep       Date:  2016-01       Impact factor: 4.810

  7 in total

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