Branchiootorenal syndrome – a case report

Česká verzia

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

Summary

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

Zdroje

1. Tewfik T, Meyers AD. Manifestations of Craniofacial Syndromes. Medscape. 2023 [online]. Dostupné z: https: //emedicine.medscape.com/article/844209-overview#a2.

2. Školoudík L, Kalfeřt D, Růžička J et al. Branchio-oto-renální syndrom. Otorinolaryngol Foniatr 2011; 60 (2): 99–102.

3. Chen A, Song J, Acke FRE et al. Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis. Clin Genet 2021; 100 (1): 3–13. Doi: 10.1111/cge.13949

4. Slattery WH, Vambutas A, Wichova H. Essential Otology and Neurotology. Hauppauge, New York, USA: Nova Science Publishers, Incorporated 2023.

5. Biggs K, Crundwell G, Metcalfe C et al. Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review. Laryngoscope Investig Otolaryngol 2022; 7 (2): 540–563. Doi: 10.1002/lio2.749.

6. O‘Brien BM, Meyers SP, Crane BT. Brachio-Oto-Renal Syndrome: CT Imaging and Intraoperative Diagnostic Findings. Otol Neurotol 2015; 36 (6): e110–e111. doi: 10.1097/mao.00000000000 00409.

7. Bailey H. Branchial Cysts and other Essays on Surgical Subjects in the Facio Cervical Region. J R Nav Med Serv 1929; 15 (3): 224. doi: 10.1136/jrnms-15-224.

8. Adams A, Mankad K, Offiah C et al. Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings. Insights Imaging 2016; 7 (1): 69–76. doi: 10.1007/s13244-015-0454-5.

9. Kochhar A, Fischer SM, Kimberling WJ et al. Branchio-oto-renal syndrome. Am J Med Genet A 2007; 143A (14): 1671–1678. doi: 10.1002/ajmg.a.31561.

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

V Úvalu 84