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CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy
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 d...
| Autores principales: | , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517480/ https://www.ncbi.nlm.nih.gov/pubmed/23164092 http://dx.doi.org/10.1186/2045-824X-4-19 |
| _version_ | 1782252420996268032 |
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| author | Behr, Gerald G Liberman, Leonardo Compton, Jocelyn Garzon, Maria C Morel, Kimberly D Lauren, Christine T Starc, Thomas J Kovacs, Stephen J Beltroni, Vincent Landres, Rachel Anyane-Yeboa, Kwame Meyers, Philip M Bacha, Emile Kandel, Jessica J |
| author_facet | Behr, Gerald G Liberman, Leonardo Compton, Jocelyn Garzon, Maria C Morel, Kimberly D Lauren, Christine T Starc, Thomas J Kovacs, Stephen J Beltroni, Vincent Landres, Rachel Anyane-Yeboa, Kwame Meyers, Philip M Bacha, Emile Kandel, Jessica J |
| author_sort | Behr, Gerald G |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-3517480 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2012 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-35174802012-12-08 CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy Behr, Gerald G Liberman, Leonardo Compton, Jocelyn Garzon, Maria C Morel, Kimberly D Lauren, Christine T Starc, Thomas J Kovacs, Stephen J Beltroni, Vincent Landres, Rachel Anyane-Yeboa, Kwame Meyers, Philip M Bacha, Emile Kandel, Jessica J Vasc Cell Case Report 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. BioMed Central 2012-11-20 /pmc/articles/PMC3517480/ /pubmed/23164092 http://dx.doi.org/10.1186/2045-824X-4-19 Text en Copyright ©2012 Behr et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Report Behr, Gerald G Liberman, Leonardo Compton, Jocelyn Garzon, Maria C Morel, Kimberly D Lauren, Christine T Starc, Thomas J Kovacs, Stephen J Beltroni, Vincent Landres, Rachel Anyane-Yeboa, Kwame Meyers, Philip M Bacha, Emile Kandel, Jessica J CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy |
| title | CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy |
| title_full | CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy |
| title_fullStr | CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy |
| title_full_unstemmed | CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy |
| title_short | CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy |
| title_sort | cm-avm syndrome in a neonate: case report and treatment with a novel flow reduction strategy |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517480/ https://www.ncbi.nlm.nih.gov/pubmed/23164092 http://dx.doi.org/10.1186/2045-824X-4-19 |
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