Branchio–Oto–Renal Syndrome
Authors:
L. Školoudík 1; D. Kalfeřt 1; J. Růžička 1; J. Kopřiva 2
Authors‘ workplace:
Klinika ušní, nosní a krční LF UK a FN, Hradec Králové
; přednosta prof. MUDr. V. Chrobok, CSc., Ph. D.
Radiologická klinika LF UK a FN, Hradec Králové
1; přednosta prof. MUDr. P. Eliáš, CSc.
2
Published in:
Otorinolaryngol Foniatr, 60, 2011, No. 2, pp. 99-102.
Category:
Case Reports
Overview
Branchio-oto-renal syndrome is a disease characterized by branchial malformations, anomalies of external, middle or internal ear and kidney damage. The disease inheritance is autosomal dominant with very variable expressivity in clinical picture even in a single family.
The authors present a case report of a mother and child with different expressivity of clinical picture. The mother fulfils the criteria of branchio-oto-renal syndrome, the child that of the branchio-oto syndrome. The diagnosis of the disease was established on the basis of a clinical examination. The genetic analysis of this syndrome is not available in the Czech Republic. The diagnosis of the mother was established at her adult age, when the ear defect was searched for and bilateral partial hearing loss was determined. Based on the family anamnesis the authors searched specifically for ear and kidney damage, which made it possible to detect the hearing loss in the child and compensate the insufficiency with a hearing aid.
Key words:
branchio-oto-renal syndrome branchio-oto syndrome, genetic examination.
Sources
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Labels
Audiology Paediatric ENT ENT (Otorhinolaryngology)Article was published in
Otorhinolaryngology and Phoniatrics
2011 Issue 2
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