From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature.
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.
Senel
Emrah
E
Department of Pediatric Surgery, Diskapi Children's Hospital, 06110 Ankara, Turkey.
Kocak
Hatice
H
Akbiyik
Fatih
F
Saylam
Guleser
G
Gulleroglu
Basak Nadide
BN
Senel
Saliha
S
D001301:Audiometry, Pure-Tone; D001934:Branchial Region / Q000002:abnormalities*; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D002648:Child; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006801:Humans; D010375:Pedigree