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
Authors
- J Bouček (ORCID: https://orcid.org/0000-0002-9233-6702)
- Petra Kalitová
- Jan Plzák (ORCID: https://orcid.org/0000-0003-3710-4455)
- Zdeněk Fík (ORCID: https://orcid.org/0000-0003-4243-9727)
- Karolína Hrubá
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