Branchiootorenal syndrome – a case report

Branchiootorenal syndrome (BOR) is an autosomal dominant hereditary disease typical for its major criteria: 1. presence of branchial fistules; 2. hearing loss caused by malformations of outer, middle, or inner ear; and 3. in combination with renal anomalies. The estimated incidence is 1: 40,000. A take home message is to point out the rare syndrome connected with hearing loss and to discuss its potential treatment. Keywords: hearing loss – Heredity – Middle ear – chromosomal disorders – Melnick-Fraser syndrome

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Publication Details

Journal
Otorinolaryngologie a foniatrie
Published
2024-12-18
DOI
https://doi.org/10.48095/ccorl2024265
Primary Topic
Head and Neck Anomalies
Type
article
Field-Weighted Citation Impact
0.00
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article

Branchiootorenal syndrome – a case report

J Bouček, Petra Kalitová, Jan Plzák, Zdeněk Fík et al.
Otorinolaryngologie a foniatrie
Head and Neck Anomalies
article

Branchiootorenal syndrome – a case report

J Bouček, Petra Kalitová, Jan Plzák, Zdeněk Fík, Karolína Hrubá
article en

Abstract

Branchiootorenal syndrome (BOR) is an autosomal dominant hereditary disease typical for its major criteria: 1. presence of branchial fistules; 2. hearing loss caused by malformations of outer, middle, or inner ear; and 3. in combination with renal anomalies. The estimated incidence is 1: 40,000. A take home message is to point out the rare syndrome connected with hearing loss and to discuss its potential treatment. Keywords: hearing loss – Heredity – Middle ear – chromosomal disorders – Melnick-Fraser syndrome

Otorinolaryngologie a foniatrieVol. 73(4)
Openalex Percentile: Top 55%
Head and Neck Anomalies
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