[Wildervanck or cervico-oculo-acoustic syndrome].
In 1952, Wildervanck described the first case of what he called the Cervico-Oculo-Acoustic (COA) syndrome, which comprises Klippel-Fetl anomalad (congenitally fused cervical vertebrae), congenital deafness and Duane's retraction syndrome (abducen's paralysis and retraction on adduction). Since the first case was reported, there have been more reports describing this triad, either completely or incompletely. A further case of this syndrome with CSF leakage is reported here and exploratory tympanotomy was performed. Abnormalities of both inner and middle ear were found. In addition, MRI and CT scan of the head revealed an abnormal cerebellum which is the second case reported in the world. And a review of literature concerning this syndrome is also presented here.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002558:Cerebrospinal Fluid Otorrhea / Q000175:diagnosis; D003638:Deafness / Q000151:congenital* / Q000175:diagnosis; D004370:Duane Retraction Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000175:diagnosis*; D013577:Syndrome