Ethmoid Meningoencephalocele in a Patient with Cerebrofacial Arteriovenous Metameric Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "World neurosurgery"
DOI: 10.1016/j.wneu.2018.02.133
Abstract: BACKGROUND Skull base meningoencephaloceles are a rare condition, frequently secondary to traumatic or iatrogenic causes. Cerebrofacial arteriovenous metameric syndrome (CAMS) is characterized by the presence of retinal, facial, and cerebral arteriovenous malformations (AVMs) with metameric… read more here.
Keywords: cerebrofacial arteriovenous; meningoencephalocele patient; arteriovenous metameric; metameric syndrome ... See more keywords
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.
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DOI: 10.1101/mcs.a006147
Abstract: Disorganized morphogenesis of arteries, veins, capillaries, and lymphatic vessels results in vascular malformations. Most individuals with isolated vascular malformations have postzygotic (mosaic), activating pathogenic variants in a handful of oncogenes within the PI3K-RAS-MAPK pathway (Padia… read more here.
Keywords: syndrome; vascular malformations; cerebrofacial vascular; vascular metameric ... See more keywords
Cerebrofacial venous metameric syndrome (CVMS) type I: constellation of imaging and clinical findings
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DOI: 10.1136/bcr-2022-252502
Abstract: © BMJ Publishing Group Limited 2022. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A woman in her early 30s presented with swelling over the right supraorbital region and forehead that she… read more here.
Keywords: constellation imaging; cvms; constellation; venous metameric ... See more keywords