Parkes Weber sendromu

Parkes Weber sendromu, otosomal dominant yolla aktarılan, aşırıbüyüme saptanan kalıtsal bir sendromdur.[1][2][3]

Çok sayıda arteiovenöz malformasyon vardır; özellikle arteiovenöz fistüller belirgindir. Damar lezyonlarında kan akımı hızlıdır ve tek bacakta görülen aşırıbüyüme nedeniyle kemik ve yumuşak doku artışı saptanır.[1][3][4]

Ayırıcı tanı

Kaynakça
  1. 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
  2. Cohen MM Jr. Vascular update: Morphogenesis, tumors, malformations,and molecular dimensions. American Journal of Medical Genetics A, 140A:2013–2038, 2006
  3. 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
  4. 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
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