Wildervanck syndrome (cervico-oculo-acoustic syndrome)

In 1952, Wildervanck described the first case of what he styled the cervico-oculo-acoustic syndrome. This rare syndrome comprises Klippel-Feil anomaly (congenitally fused cervical vertebra), Duane syndrome (abducens palsy with retractio bulbi on lateral gaze) and congenital sensoneural deafness. There is a gradual transition in the clinical features between complete and incomplete forms of cervico-oculo-acoustic syndrome. In this case, we described a 7.5 year-old girl with Wildervanck syndrome and a cardiac defect (ASD II). We presented a complete clinical evaluation, MRI head scan findings and in addition, the origin of "mirror" movements observed as part of the Klippel-Feil syndrome are discussed.