Branchiootorenal syndrome –⁠ a case report

Czech version

Authors: K. Hrubá; Z. Fík; J. Bouček; P. Kalitová; J. Plzák
Authors‘ workplace: Klinika otorinolaryngologie a chirurgie hlavy a krku 1. LF UK a FN v Motole, Praha
Published in: Otorinolaryngol Foniatr, 73, 2024, No. 4, pp. 265-269.
Category: Case Reports
doi: https://doi.org/10.48095/ccorl2024265

Overview

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

Sources

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ORCID autorů

Z. Fík 0000-0003-4243-9727,

J. Bouček 0000-0002-9233-6702,

P. Kalitová 0000-0001-6856-9453,

J. Plzák 0000-0003-3710-4455.

Přijato k recenzi: 22. 7. 2024

Přijato k tisku: 24. 10. 2024

MUDr. Karolína Hrubá

Klinika otorinolaryngologie a chirurgie hlavy a krku

1. LF UK a FN v Motole

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