Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia

Autores:
Malambo García, Dacia I.
Mora García, Gustavo J.
Pomares Estrada, José C.
Gómez García (q.e.p.d.), Cristian
Gómez Camargo, Doris E.
Tipo de recurso:
Article of journal
Fecha de publicación:
2020
Institución:
Universidad de Cartagena
Repositorio:
Repositorio Universidad de Cartagena
Idioma:
spa
OAI Identifier:
oai:repositorio.unicartagena.edu.co:11227/13340
Acceso en línea:
https://hdl.handle.net/11227/13340
https://doi.org/10.32997/rcb-2011-3072
Palabra clave:
Síndrome de Marfan. Aracnodactilia. Tórax en embudo. Aneurisma de la aorta
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openAccess
License
Revista Ciencias Biomédicas - 2020
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network_name_str Repositorio Universidad de Cartagena
repository_id_str
dc.title.spa.fl_str_mv Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
dc.title.translated.eng.fl_str_mv Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
title Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
spellingShingle Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
Síndrome de Marfan. Aracnodactilia. Tórax en embudo. Aneurisma de la aorta
title_short Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
title_full Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
title_fullStr Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
title_full_unstemmed Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
title_sort Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia
dc.creator.fl_str_mv Malambo García, Dacia I.
Mora García, Gustavo J.
Pomares Estrada, José C.
Gómez García (q.e.p.d.), Cristian
Gómez Camargo, Doris E.
dc.contributor.author.spa.fl_str_mv Malambo García, Dacia I.
Mora García, Gustavo J.
Pomares Estrada, José C.
Gómez García (q.e.p.d.), Cristian
Gómez Camargo, Doris E.
dc.subject.spa.fl_str_mv Síndrome de Marfan. Aracnodactilia. Tórax en embudo. Aneurisma de la aorta
topic Síndrome de Marfan. Aracnodactilia. Tórax en embudo. Aneurisma de la aorta
publishDate 2020
dc.date.accessioned.none.fl_str_mv 2020-12-21 00:00:00
dc.date.available.none.fl_str_mv 2020-12-21 00:00:00
dc.date.issued.none.fl_str_mv 2020-12-21
dc.type.spa.fl_str_mv Artículo de revista
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dc.identifier.doi.none.fl_str_mv 10.32997/rcb-2011-3072
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dc.relation.ispartofjournal.spa.fl_str_mv Revista Ciencias Biomédicas
dc.relation.bitstream.none.fl_str_mv https://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/download/3072/2602
dc.relation.citationedition.spa.fl_str_mv Núm. 2 , Año 2011
dc.relation.citationendpage.none.fl_str_mv 310
dc.relation.citationissue.spa.fl_str_mv 2
dc.relation.citationstartpage.none.fl_str_mv 305
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dc.relation.references.spa.fl_str_mv Marfan BJ. Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, charactérisée par l’allongement des os avec un certain degré d’amincissement. Bull. Mém. Soc. Med. Hôp. Paris. 1896; 3(13): 220-26.
Ammash NM, Sundt TM, Connolly H. Marfan’s Syndrome-Diagnosis and management. Curr Probl Cardiol 2008;33:7-39.
Dietz HC, Cutting CR, Pyeritz RE, Maslen CL, Sakai LY, Corson G, et. al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991; 352: 337 - 339
Summers KM, Bokil NJ, Baisden JM, West MJ, Sweet MJ, Raggatt LJ, Hume DA. Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. Genomics 2009; 94 (4): 233-240.
Sakai LY, Keene R, Engvall E. Fibrillin, A New 350-kD Glycoprotein, is a component of extracellular microfibrils. The Journal of Cell Biology. 1986; 103: 2499-2509
P. A. Abraham Pa, Perejda Aj, Carnes Wh, Uitto J. Marfan Syndrome demonstration of abnormal elastin in aorta. J. Clin. Invest 1982; 70: 1245-1252
Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005; 20:194-200.
Ades L. Guidelines for the Diagnosis and management of Marfan syndrome. Heart, Lung and Circulation. 2007;16:28–30
Judge DP, Dietz HC. Marfan’s syndrome. Lancet. 2005; 366: 1965–1976.
McBride AR, Gargan M. Marfan syndrome. Current Orthopaedics. 2006; 20: 418–423.
Kinoshita N, Mimura J, Obayashi C, Katsukawa F, Onishi S, Yamazaki H. Aortic root dilatation among young competitive athletes: echocardiographic screening of 1929 athletes between 15 and 34 years of age. American Hearth Journal 2000; I39 (4): 723-728.
Ryan-Krause P. Identify and Manage Marfan Syndrome in Children. The Nurse Practitioner. 2002; 27(10): 26-36.
Oliva P, Moreno R, Toledo MI, Montecinos A, Molina J. Síndrome de Marfán. Rev Méd Chile 2006; 134: 1455-1464.
De Backer J, Loeys B, De Paepe A. Marfan and Marfan-like syndromes. Artery Research 2009; 3: 9-16.
Faivre L, Collod-Beroud G, Loeys BL, Child A, et. al. Effect of mutation type and location on clinical outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study. The Am. J. Hum. Genet. 2007; 81:454–466.
Dean JC. Marfan syndrome: clinical diagnosis and management. European Journal of Human Genetics 2007; 15: 724–733.
Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, et. al. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995. 75: 157–160.
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. American journal of medical genetics 1996; 62(4):417-426.
Rand-Hendrikse S, Lundby R, Tjeldhorn L, Andersen K, et. al. Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome. European Journal of Human Genetics. 2009. 17: 1222 – 1230.
Kula S, Saygılı A, Tunaoglu FS, Olgunturk R. Mayer-Rokitansky-Kuster-Hauser syndrome associated with pulmonary stenosis. Acta Pædiatr. 2004. 93: 570–572.
Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Practice & Research Clinical Rheumatology. 2008. 22 (1): 165–189.
Young TL. Ophthalmic genetics/inherited eye disease. Current opinion in ophtalmology. 2003. 14(5): 296-303.
Oliva P, Moreno R, Toledo MI, Montecinos A, Molina J. Síndrome de Marfán. Rev Méd Chile. 2006; 134: 1455-1464.
Tsipouras P, Silverman DI. The Genetic Basis Of Aortic Disease Marfan Syndrome and Beyond. Cardiology Clinics Of North America. 1999; 17 (4): 683-696.
McEwan A. Pre-natal diagnosis of single gene disorders. Current Obstetrics & Gynaecology 2003; 13; 265-272.
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spelling Malambo García, Dacia I.Mora García, Gustavo J.Pomares Estrada, José C.Gómez García (q.e.p.d.), CristianGómez Camargo, Doris E.2020-12-21 00:00:002020-12-21 00:00:002020-12-212215-7840https://hdl.handle.net/11227/1334010.32997/rcb-2011-30722389-7252https://doi.org/10.32997/rcb-2011-3072application/pdfspaUniversidad de CartagenaRevista Ciencias Biomédicashttps://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/download/3072/2602Núm. 2 , Año 201131023052Marfan BJ. Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, charactérisée par l’allongement des os avec un certain degré d’amincissement. Bull. Mém. Soc. Med. Hôp. Paris. 1896; 3(13): 220-26.Ammash NM, Sundt TM, Connolly H. Marfan’s Syndrome-Diagnosis and management. Curr Probl Cardiol 2008;33:7-39.Dietz HC, Cutting CR, Pyeritz RE, Maslen CL, Sakai LY, Corson G, et. al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991; 352: 337 - 339Summers KM, Bokil NJ, Baisden JM, West MJ, Sweet MJ, Raggatt LJ, Hume DA. Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. Genomics 2009; 94 (4): 233-240.Sakai LY, Keene R, Engvall E. Fibrillin, A New 350-kD Glycoprotein, is a component of extracellular microfibrils. The Journal of Cell Biology. 1986; 103: 2499-2509P. A. Abraham Pa, Perejda Aj, Carnes Wh, Uitto J. Marfan Syndrome demonstration of abnormal elastin in aorta. J. Clin. Invest 1982; 70: 1245-1252Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005; 20:194-200.Ades L. Guidelines for the Diagnosis and management of Marfan syndrome. Heart, Lung and Circulation. 2007;16:28–30Judge DP, Dietz HC. Marfan’s syndrome. Lancet. 2005; 366: 1965–1976.McBride AR, Gargan M. Marfan syndrome. Current Orthopaedics. 2006; 20: 418–423.Kinoshita N, Mimura J, Obayashi C, Katsukawa F, Onishi S, Yamazaki H. Aortic root dilatation among young competitive athletes: echocardiographic screening of 1929 athletes between 15 and 34 years of age. American Hearth Journal 2000; I39 (4): 723-728.Ryan-Krause P. Identify and Manage Marfan Syndrome in Children. The Nurse Practitioner. 2002; 27(10): 26-36.Oliva P, Moreno R, Toledo MI, Montecinos A, Molina J. Síndrome de Marfán. Rev Méd Chile 2006; 134: 1455-1464.De Backer J, Loeys B, De Paepe A. Marfan and Marfan-like syndromes. Artery Research 2009; 3: 9-16.Faivre L, Collod-Beroud G, Loeys BL, Child A, et. al. Effect of mutation type and location on clinical outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study. The Am. J. Hum. Genet. 2007; 81:454–466.Dean JC. Marfan syndrome: clinical diagnosis and management. European Journal of Human Genetics 2007; 15: 724–733.Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, et. al. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995. 75: 157–160.De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. American journal of medical genetics 1996; 62(4):417-426.Rand-Hendrikse S, Lundby R, Tjeldhorn L, Andersen K, et. al. Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome. European Journal of Human Genetics. 2009. 17: 1222 – 1230.Kula S, Saygılı A, Tunaoglu FS, Olgunturk R. Mayer-Rokitansky-Kuster-Hauser syndrome associated with pulmonary stenosis. Acta Pædiatr. 2004. 93: 570–572.Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Practice & Research Clinical Rheumatology. 2008. 22 (1): 165–189.Young TL. Ophthalmic genetics/inherited eye disease. Current opinion in ophtalmology. 2003. 14(5): 296-303.Oliva P, Moreno R, Toledo MI, Montecinos A, Molina J. Síndrome de Marfán. Rev Méd Chile. 2006; 134: 1455-1464.Tsipouras P, Silverman DI. The Genetic Basis Of Aortic Disease Marfan Syndrome and Beyond. Cardiology Clinics Of North America. 1999; 17 (4): 683-696.McEwan A. Pre-natal diagnosis of single gene disorders. Current Obstetrics & Gynaecology 2003; 13; 265-272.Revista Ciencias Biomédicas - 2020https://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccesshttps://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/view/3072Síndrome de Marfan. Aracnodactilia. Tórax en embudo. Aneurisma de la aortaSíndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. ColombiaSíndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. ColombiaArtículo de revistainfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1Textinfo:eu-repo/semantics/articleJournal articlePublicationOREORE.xmltext/xml2614https://repositorio.unicartagena.edu.co/bitstreams/2a56ce2d-d162-4550-8bd2-84ca064a9207/downloade9a7809d69ff8f5e524715d82a6a883fMD5111227/13340oai:repositorio.unicartagena.edu.co:11227/133402024-09-05 15:30:30.763https://creativecommons.org/licenses/by-nc-sa/4.0/Revista Ciencias Biomédicas - 2020metadata.onlyhttps://repositorio.unicartagena.edu.coBiblioteca Digital Universidad de Cartagenabdigital@metabiblioteca.com

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