Microsoft Word - DRM103BF

Vicente Torres-Peris, Titular professor, Avenida Blasco Ibañez 17, CP 46010 Valencia (Spain) The branchio-otorenal (BOR) syndrome is an autosomal dominant disorder characterized by preauricular pits or branchial fistulas, hearing loss and renal anomalies. Case Report An 8-year-old girl had small bilateral pits on the concha of her auricle at birth (fig. 1). When she was 5 years old, her parents noticed a progressive hearing loss, and at the age of 7 years the audiological examination showed moderate sensorineural hearing loss in the right ear and severe hearing loss of 25%, especially for high-frequency sounds, in the left ear. Hypoplasia of the left kidney was identified by an intravenous pyelogram (fig-2). Rachischisis at the level of the 5 lumbar vertebrae was present. The girl had a normal 46 XX karyotype, normal stature and a normal intelligence index; she has a palatum ogivale. There was consanguinity between the parents; no similar case was known in the family.