Gerald G Behr, Leonardo Liberman, Jocelyn Compton, Maria C Garzon, Kimberly D Morel, Christine T Lauren, Thomas J Starc, Stephen J Kovacs, Vincent Beltroni, Rachel Landres, Kwame Anyane-Yeboa, Philip M Meyers, Emile Bacha, Jessica J Kandel
{"title":"CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.","authors":"Gerald G Behr, Leonardo Liberman, Jocelyn Compton, Maria C Garzon, Kimberly D Morel, Christine T Lauren, Thomas J Starc, Stephen J Kovacs, Vincent Beltroni, Rachel Landres, Kwame Anyane-Yeboa, Philip M Meyers, Emile Bacha, Jessica J Kandel","doi":"10.1186/2045-824X-4-19","DOIUrl":null,"url":null,"abstract":"<p><p> Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected.A novel flow reduction strategy was employed to a large AVM affecting the patient's upper limb. The imaging findings, surgical procedure and patient's improved post-operative state are described.</p>","PeriodicalId":23948,"journal":{"name":"Vascular Cell","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2012-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2045-824X-4-19","citationCount":"11","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Vascular Cell","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/2045-824X-4-19","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Neuroscience","Score":null,"Total":0}
引用次数: 11
Abstract
Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected.A novel flow reduction strategy was employed to a large AVM affecting the patient's upper limb. The imaging findings, surgical procedure and patient's improved post-operative state are described.
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