CERVICO-OCULO-ACUSTICUS SYNDROME WITH PSEUDOPAPILLOEDEMA

Two patients with the cervico-oculo-acusticus syndrome, which comprises the Klippel-Feil anomaly, Duane's syndrome, and perceptive deafness, are described. Pseudopapilloedema was present in both patients, which is the first time this appearance has been recorded in the syndrome. The presence of pseudo-papilloedema is ascribed to an extension of the genetic defect responsible for the syndrome. One of the patients also had a limbal dermoid, which is only the second one recorded where this abnormality was present in a patient displaying the full syndrome. Tomography of the petrous temporal bones in one patient revealed gross abnormalities of the inner ear. A closer liaison between ophthalmologist, audio-logist, and paediatrician is essential to establish the incidence of pseudopapilloedema in this syndrome, and even of the syndrome itself.