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Titolo:
A vestibular phenotype for Waardenburg syndrome?
Autore:
Black, FO; Pesznecker, SC; Allen, K; Gianna, C;
Indirizzi:
Legacy Clin Res & Technol Ctr, Dept Neurol Res, Portland, OR 97208 USA Legacy Clin Res & Technol Ctr Portland OR USA 97208 ortland, OR 97208 USA Balance & Hearing NW, Portland, OR USA Balance & Hearing NW Portland OR USA ance & Hearing NW, Portland, OR USA
Titolo Testata:
OTOLOGY & NEUROTOLOGY
fascicolo: 2, volume: 22, anno: 2001,
pagine: 188 - 194
SICI:
1531-7129(200103)22:2<188:AVPFWS>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME TYPE-I; HIRSCHSPRUNG-DISEASE; ENDOTHELIN-3 GENE; MICROPHTHALMIA; MUTATION; MITF; HETEROGENEITY; ASSIGNMENT; EXPRESSION; LOCUS;
Keywords:
Waardenburg syndrome; vestibular function; electrocochleography;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
44
Recensione:
Indirizzi per estratti:
Indirizzo: Black, FO Legacy Clin Res & Technol Ctr, Dept Neurol Res, 1225 NE 2nd Ave,Suite 303,POB 3950, Portland, OR 97208 USA Legacy Clin Res & Technol Ctr 1225 NE 2nd Ave,Suite 303,POB 3950 Portland OR USA 97208
Citazione:
F.O. Black et al., "A vestibular phenotype for Waardenburg syndrome?", OTOL NEURO, 22(2), 2001, pp. 188-194

Abstract

Objective: To investigate vestibular abnormalities in subjects with Waardenburg syndrome. Study Design: Retrospective record review. Setting: Tertiary referral neurotology clinic. Subjects: Twenty-two adult white subjects with clinical diagnosis of Waardenburg syndrome (10 type I and 12 type II). Interventions: Evaluation for Waardenburg phenotype, history of vestibular and auditory symptoms, tests ofvestibular and auditory function. Main Outcome Measures: Results of phenotyping, results of vestibular and auditory symptom review (history), results of vestibular and auditory function testing. Results: Seventeen subjects were women. and 5 were men. Their ages ranged from 21 to 58 years (mean, 38 years). Six teen of the 22 subjects sought treatment for vertigo, dizziness, or imbalance. For subjects with vestibular symptoms, the results of vestibuloocular tests (calorics, vestibular autorotation, and/or pseudorandom rotation) were abnormal in 77%, and the resultsof vestibulospinal function tests (computerized dynamic posturography, EquiTest) were abnormal in 57%, but there were no specific patterns of abnormality. Six had objective sensorineural hearing loss. Thirteen had an elevated summating/action potential (>0.40) on electrocochleography. All subjects except those with severe hearing loss (n = 3) had normal auditory brainstemresponse results. Conclusion: Patients with Waardenburg syndrome may experience primarily vestibular symptoms without hearing Loss. Electrocochleography and vestibularfunction tests appear to be the most sensitive measures of otologic abnormalities in such patients.

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Documento generato il 04/04/20 alle ore 02:00:26