[Malformation processes in the middle ear. Branchio-oto-renal syndrome (BOR)]

The present report concerns a case of Branchio-Oto-Renal (BOR) dysplasia. The syndrome is an autosomal dominant inherited disorder characterized by external ear malformations, branchial fistulas, conductive mixed or sensorineural hearing loss and renal anomalies of varying severity. The types of abnormalities that may be present are numerous and often difficult to identify preoperatively, despite modern imaging techniques. From the literature the reconstructive surgery of the middle ear in patients with the BOR Syndrome often has not been successful. In particular, the Authors report their experience in the surgical treatment of a case of BOR Syndrome. During intraoperative investigation a complex malformation of incus-malleus system was detected; thus, an ossiculoplasty, with PORP interposition, was carried out. Hearing results obtained with such intervention were successful, but they did not allow a complete closure of the cochlear reserve. Lastly, the Authors recommend a careful study of the different malformations of the middle ear, so that a more suitable preoperative therapeutic procedure may be planned.