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Cerebrofacial arteriovenous metameric syndrome

MedGen UID:
825110
Concept ID:
C3839265
Disease or Syndrome
Synonyms: CAMS; cerebrofacial arteriovenous metameric syndrome
SNOMED CT: Cerebrofacial arteriovenous metameric syndrome (703266007)
 
Monarch Initiative: MONDO:0015405
Orphanet: ORPHA141189

Definition

A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Cerebrofacial arteriovenous metameric syndrome

Recent clinical studies

Etiology

Geibprasert S, Pongpech S, Jiarakongmun P, Shroff MM, Armstrong DC, Krings T
Radiographics 2010 Mar;30(2):483-501. doi: 10.1148/rg.302095728. PMID: 20228330

Diagnosis

Fernández-Gajardo R, Almeida JP, Suppiah S, Witterick I, Zadeh G
World Neurosurg 2018 Jun;114:1-3. Epub 2018 Mar 3 doi: 10.1016/j.wneu.2018.02.133. PMID: 29510289
Ng JC, Appuhamy C, Lee W
BMJ Case Rep 2018 Jan 12;2018 doi: 10.1136/bcr-2017-222708. PMID: 29330274Free PMC Article
O'Loughlin L, Groves ML, Miller NR, Pearl MS
Childs Nerv Syst 2017 Mar;33(3):513-516. Epub 2016 Oct 27 doi: 10.1007/s00381-016-3277-x. PMID: 27787648
Geibprasert S, Pongpech S, Jiarakongmun P, Shroff MM, Armstrong DC, Krings T
Radiographics 2010 Mar;30(2):483-501. doi: 10.1148/rg.302095728. PMID: 20228330
Kang HS, Han MH, Kwon BJ, Yoon BW, Chang KH
J Neurosurg 2005 Jan;102(1):156-60. doi: 10.3171/jns.2005.102.1.0156. PMID: 15658108

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