Article
Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 May 2006
Di Maio L, Marcelli V, Vitale C, Menzione M, De Giorgio A, Briganti F, Perretti A, Marciano E, Filla A, De Michele G
Abstract excerpt
BACKGROUND: The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome. Polygenic, autosomal dominant, and X-linked inheritance have been hypothesized. The disorder has rarely been reported in males. CASE REPORT: A 42-year-old male, born of consanguineous parents, presented with Duane's syndrome, mixed hearing loss, C2-C3 fusion, neck stiffness, and...
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