Inherited Pial Arteriovenous Fistula in Capillary Malformation–Arteriovenous Malformation Family
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26316
Abstract: A 3-year-old girl with a 2-month history of pain and weakness in both legs presented to our clinic. Physical examination showed weakness of bilateral legs (muscle strength: grade 3) and multiple cutaneous red maculae (Fig… read more here.
Keywords: arteriovenous malformation; malformation; arteriovenous fistula; see fig ... See more keywords
Capillary Malformation - Arteriovenous Malformation Type 2: Case Report and Review.
Sign Up to like & getrecommendations! Published in 2022 at "Acta dermato-venereologica"
DOI: 10.2340/actadv.v102.1126
Abstract: Capillary malformation - Arteriovenous malformation syndrome (CM-AVM) is a rare genodermatosis with cutaneous capillary malformations (CMs) and a risk of associated fast-flow malformations. A four-generation family with a novel heterozygous pathogenic variant in the EPHB4-gene… read more here.
Keywords: review; malformation; capillary malformation; malformation type ... See more keywords
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030549
Abstract: Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal… read more here.
Keywords: arteriovenous malformation; malformation; avm syndrome; capillary malformation ... See more keywords