From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature |
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Authors: | Emrah Senel Hatice Kocak Guleser Saylam Saliha Senel |
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Affiliation: | a Department of Pediatric Surgery, Diskapi Children?s Hospital, 06110 Ankara, Turkey b Department of Genetics, Diskapi Children?s Hospital, 06110 Ankara, Turkey c Department of Pediatric Ear Nose Throat, Diskapi Hospital, 06110 Ankara, Turkey d Department of Pediatric Radiology, Diskapi Children?s Hospital, 06110 Ankara, Turkey e Department of Pediatrics, Dr Sami Ulus Children?s Hospital, 06110 Ankara, Turkey |
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Abstract: | Branchial abnormalities constitute 32% to 45% of all neck pathologies in children. They may be a part of branchiootorenal (BOR) syndrome, which is characterized by branchial arch anomalies, preauricular pits, hearing impairment, and renal malformations. Typically, the management of a branchial fistula does not necessarily require an extensive diagnostic workup. However, in patients with a branchial fistula associated with external ear anomalies on physical examination and/or a history of hearing loss and a similar history and findings in other family members, an additional workup should be performed to eliminate the possibility of BOR syndrome. The aim of this report is to make pediatric surgeons aware of the BOR syndrome in patients presenting with branchial arch anomalies. |
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Keywords: | Branchiootorenal syndrome Branchial anomalies Hearing impairment Preauricular pit |
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