Cervico-oculo-acoustic syndrome.
A 12-year-old boy with the cervico-oculo-acoustic syndrome, which comprises Duane retraction syndrome, Klippel-Feil anomaly (fused cervical vertebrae) and congenital hearing loss, is described. To this classical triad an optic nerve head coloboma was associated. To the authors' knowledge this is the first case in which such an association has been recorded.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002972:Cleft Palate; D003103:Coloboma / Q000473:pathology; D003638:Deafness / Q000235:genetics / Q000473:pathology*; D003884:Dermoid Cyst / Q000473:pathology; D004370:Duane Retraction Syndrome / Q000235:genetics / Q000473:pathology*; D005134:Eye Neoplasms / Q000473:pathology; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000235:genetics / Q000473:pathology*; D008067:Lipoma / Q000473:pathology; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000473:pathology; D009886:Ophthalmoplegia / Q000473:pathology*; D009900:Optic Nerve / Q000002:abnormalities