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[Congenital retinocephalic facial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome].

The congenital retinocephalic facial vascular malformation syndrome is characterized by unilateral, nonhereditary retinal and cerebral arteriovenous malformations (AVMs) and is occasionally associated with orbital vascular changes. Typical signs are facial and oral mucosal vascular changes, rarely with changes of the maxilla or mandible. An AVM causes high blood flow because of direct connection (shunting) of major vessels without interposition of capillaries. Ocular complications include retinal and vitreous hemorrhages, edema, venous occlusion (risk of rubeosis iridis and secondary glaucoma). Neuroophthalmological changes comprise optic atrophy, papilledema, proptosis, pupillary changes, hemianopia, gaze paresis, nystagmus, cranial nerve palsies, strabismus, and amblyopia. Neurological complications include headache, subarachnoid hemorrhage, convulsions, cerebral hemorrhages, increased intracranial pressure, hydrocephalus, and stroke with hemiparesis. Threatening oral hemorrhages or epistaxis may rarely occur.

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