P

 

Parkes Weber sendromu

Kalıtsal - AD

Arteiovenöz malformasyonlar

Arteiovenöz fistüller

Damar lezyonlarında kan akımı hızlı

Tek ekstemitede kemik ve yumuşak doku artışı

Ekstremite iriliği (tek bacak)

 

  • Cohen MM Jr. Vascular update: Morphogenesis, tumors, malformations,and molecular dimensions. American Journal of Medical Genetics A, 140A:2013–2038, 2006

  • Revencu N, Boon LM, Mulliken JB, et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human Mutation, 29(7):959-965, 2008

  • Revencu N, Boon LM, Mendola A, et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Human Mutation, 34: 1632-1641, 2013

  • Weitz NA, Lauren CT, Behr GG, et al. Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. Pediatric Dermatology, 32:76–84, 2015