From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature

A different type of branchial fistula as part of a branchiootorenal syndrome

“…Minor criteria are external ear anomalies, middle ear anomalies, inner ear anomalies, preauricular tags, facial asymmetry, and palate anomalies. To be classified as BOR, an affected individual must have at least 3 major criteria, or 2 major criteria and at least 2 minor criteria, or 1 major criteria and an affected first-degree relative meeting the criteria for BOR syndrome [2]. Our patient showed 3 major criteria of BOR: unilateral branchial fistula, bilateral preauricular pits, and deafness.…”

“…The mixed type hearing loss may be explained by external and middle ear abnormalities with sensorineural component due to medicines or heredity causes in this particular case. Although temporal CT of this case was reported as normal, temporal bone study on CT may show a wide variety of middle and inner ear malformations such as hypoplastic apical turn of the cochlea, facial nerve deviated to the medial side of the cochlea, funnel-shaped internal acoustic canal (IAC), patulous Eustachian tube, reduced middle ear cavity, a variety of ossicular anomalies, hypoplastic lateral semicircular canal, and enlarged vestibular aqueduct in BOR cases [2].…”

“…Stinckens et al reported the frequencies of the main features of BOR syndrome as follows: hearing impairment (95.4%), malformed auricles (86.8%), second branchial arch fistula/cyst (86.5%), preauricular sinus (87.0%), and renal anomalies (58.3%) [2]. This case is unique in terms of the type of branchial fistula, which was a combination of both the first and the second branchial arches.…”

“…The hearing loss in BOR patients can be conductive, sensorineural, or mixed because of an otic anomaly of the outer, middle, or inner ear, and often, it is associated with preauricular tags or pits [2]. The mixed type hearing loss may be explained by external and middle ear abnormalities with sensorineural component due to medicines or heredity causes in this particular case.…”

Head and neck fistulas of congenital or infectious etiology: retrospective analysis of 23 cases

“…[9] Occasionally, a branchial anomaly may be a part of branchiootorenal (BOR) syndrome, which is defined with branchial arch anomalies, hearing loss and renal malformations. This genetic syndrome with autosomal dominant transmission has first been described by Melnick et al and Fraser et al [10,11] We had no BOR syndromic patients in this study, but BOR should be kept in mind for the patients with branchial fistulas that can be associated with external ear anomalies and/or a history of hearing loss and similar findings in other family members.…”