Branchiootorenal Syndrome (BOR)-3 Very Illustrative Cases

Abstract

Although the association of hearing loss, preauricular pits and branchial fistulae occurring in families was known since 1932 it was only in 1976 that Melnick et al. described a family with the father and 3 living children-1 boy and 2 girls-presenting with bilateral small ears, cup shaped anti verted pinnae, bilateral preauricular pits, cervical branchial fistulae and mixed hearing loss. In addition bilateral aplasia of the inferior lacrimal duct was present in the proband. Renal anomalies were present in all 3 members of this family in intravenous pyelography (IVP). They called this combination of symptoms BOR dysplasia. Due to the extreme variability of the phenotype of families affected as many as 6 different syndromes have been described in the past related to these anomalies. However only two syndromes are now accepted in the spectrum of BOR disorders: Branchiootorenal (BOR) and Branchiooto Syndromes (BOS). Extreme variability can be seen from one side to the other in the same patient and between different siblings. BOR and BOS may be present in one family. Mild to severe renal dysplasia can be seen in different siblings. Renal disease may progress to terminal disease in some patients. Mutations in EY1 cover 40% of patients with BOR and BOS. Testing of SIX5 (BOR2) and SIX1 (BOR 3, BOS3) cover another 5% of BOR and BOS patients. We present 3 patients, 2 from the same family, two of them submitted to middle ear surgery and with radically different temporal bone anomalies illustrating the great variability of phenotype among these patients.