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Titolo:
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome
Autore:
Kemperman, MH; Stinckens, C; Kumar, S; Huygen, PLM; Joosten, FBM; Cremers, CWRJ;
Indirizzi:
Univ Nijmegen, Med Ctr, Dept Otorhinolaryngol, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Nijmegen Netherlands NL-6500 HB 0 HB Nijmegen, Netherlands Univ Nijmegen, Med Ctr, Dept Radiol, NL-6500 HB Nijmegen, Netherlands UnivNijmegen Nijmegen Netherlands NL-6500 HB 0 HB Nijmegen, Netherlands Katholieke Univ Leuven Hosp, Dept Otorhinolaryngol Head & Neck Surg, Louvain, Belgium Katholieke Univ Leuven Hosp Louvain Belgium Neck Surg, Louvain, Belgium Boys Town Natl Res Hosp, Dept Med Genet, Omaha, NE 68131 USA Boys Town Natl Res Hosp Omaha NE USA 68131 Med Genet, Omaha, NE 68131 USA
Titolo Testata:
OTOLOGY & NEUROTOLOGY
fascicolo: 5, volume: 22, anno: 2001,
pagine: 637 - 643
SICI:
1531-7129(200109)22:5<637:PFHLEV>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
COMMISSURAL LIP PITS; PENDRED-SYNDROME; BOR SYNDROME; PREAURICULAR SINUS; GENE; MUTATIONS; DEAFNESS; EAR; PDS; DYSPLASIA;
Keywords:
branchio-oto-renal syndrome; enlarged vestibular aqueduct; sensorineural hearing loss; progessive hearing loss; autosomal dominant; genetic conditions; hearing impairment; EYA1 gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Cremers, CWRJ Univ Nijmegen, Med Ctr, Dept Otorhinolaryngol, POB 9101, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen POB 9101 Nijmegen Netherlands NL-6500 HB ands
Citazione:
M.H. Kemperman et al., "Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome", OTOL NEURO, 22(5), 2001, pp. 637-643

Abstract

Objective: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses. Study Design: Longitudinal case study. Setting: Tertiary referral center. Patients: A father and son with the BOR syndrome. Main Outcome Measures: Both patients underwent imaging studies to detect and evaluate inner ear anomalies. Longitudinal audiometric analysis of the hearing threshold data over the previous 23 years was performed. Caloric tests were performed at various ages. Results: The son had a short, wide internal acoustic canal, a hypoplastic cochlea, a plump vestibule, and a wide vestibular aqueduct on both sides; the semicircular canals and endolymphatic sac were of normal size. He showedprogressive fluctuant sensorineural hearing loss. Caloric tests disclosed hyporeflexia on the left side. The father had a plump internal acoustic canal and hypoplastic cochlea on both sides. The left vestibule was hypoplastic, and the left vestibular aqueduct was marginally enlarged. He showed severe hearing impairment, without substantial progression or fluctuation, and caloric areflexia on the left side. Conclusion: These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an enlarged vestibular aqueduct in the BOR syndrome. Additional longitudinal case studies are needed to further evaluate such a correlation.

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Documento generato il 19/02/20 alle ore 22:05:27