Regenbogen L, Godel V
Ophthalmic Paediatr Genet. 1985 Dec;6(3):183-7. doi: 10.3109/13816818509087639.
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.
本文描述了一名患有颈-眼-耳综合征的12岁男孩，该综合征包括杜安眼球后退综合征、颈椎融合畸形（颈椎融合）和先天性听力损失。除了这一经典三联征外，该患者还伴有视神经乳头缺损。据作者所知，这是首次记录到的此类关联病例。
