Diagnóstico prenatal del síndrome de Jarcho-Levin
- Autores:
-
Rondón Tapia, Marta
Reyna Villasmil, Eduardo
Torres Cepeda, Duly
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2018
- Institución:
- Fundación Universitaria de Ciencias de la Salud - FUCS
- Repositorio:
- Repositorio Digital Institucional ReDi
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.fucsalud.edu.co:001/2128
- Acceso en línea:
- https://repositorio.fucsalud.edu.co/handle/001/2128
https://doi.org/10.31260/RepertMedCir.v27.n3.2018.208
- Palabra clave:
- síndrome de Jarcho-Levin
diagnóstico prenatal
ecografía
feto
Jarcho–Levin syndrome
Spondylocostal dysostosis
Prenatal diagnosis
Ultrasound
fetus
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-sa/4.0/
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Diagnóstico prenatal del síndrome de Jarcho-Levin |
| dc.title.translated.eng.fl_str_mv |
Prenatal diagnosis of Jarcho-Levin syndrome |
| title |
Diagnóstico prenatal del síndrome de Jarcho-Levin |
| spellingShingle |
Diagnóstico prenatal del síndrome de Jarcho-Levin síndrome de Jarcho-Levin diagnóstico prenatal ecografía feto Jarcho–Levin syndrome Spondylocostal dysostosis Prenatal diagnosis Ultrasound fetus |
| title_short |
Diagnóstico prenatal del síndrome de Jarcho-Levin |
| title_full |
Diagnóstico prenatal del síndrome de Jarcho-Levin |
| title_fullStr |
Diagnóstico prenatal del síndrome de Jarcho-Levin |
| title_full_unstemmed |
Diagnóstico prenatal del síndrome de Jarcho-Levin |
| title_sort |
Diagnóstico prenatal del síndrome de Jarcho-Levin |
| dc.creator.fl_str_mv |
Rondón Tapia, Marta Reyna Villasmil, Eduardo Torres Cepeda, Duly |
| dc.contributor.author.spa.fl_str_mv |
Rondón Tapia, Marta Reyna Villasmil, Eduardo Torres Cepeda, Duly |
| dc.subject.spa.fl_str_mv |
síndrome de Jarcho-Levin diagnóstico prenatal ecografía feto |
| topic |
síndrome de Jarcho-Levin diagnóstico prenatal ecografía feto Jarcho–Levin syndrome Spondylocostal dysostosis Prenatal diagnosis Ultrasound fetus |
| dc.subject.eng.fl_str_mv |
Jarcho–Levin syndrome Spondylocostal dysostosis Prenatal diagnosis Ultrasound fetus |
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2018 |
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2018-10-26 00:00:00 2022-02-21T20:34:26Z |
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2018-10-26 |
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2018-10-26 00:00:00 2022-02-21T20:34:26Z |
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Demir N, Peker E, Gülşen İ, Ağengin K, Kaba S, Tuncer O. A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome. J Child Neurol. 2016;31(4):415-20. doi: 10.1177/0883073815596614. 2. Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP. Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation. Am J Case Rep. 2016;17:745-748. 3. Yurttutan S, Değirmencioğlu H, Oncel MY, Kara S, Sari F, Dilmen U. Jarcho-Levin syndrome presenting with severe hydrocephalus: a report of three cases. Genet Couns. 2013;24(4):361-6. 4. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. 5. Anjankar SD, Subodh R. Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. J Pediatr Neurosci. 2014;9(3):249-52. doi: 10.4103/1817-1745.147580. 6. Legare JM, Seaborg K, Laffin J, Giampietro PF. Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. Am J Med Genet A. 2017;173(10):2808-2813. doi: 10.1002/ajmg.a.38395. 7. Oates AC, Morelli LG, Ares S. Patterning embryos with oscillations: structure, function and dynamics of the vertebrate segmentation clock. Development. 2012;139(4):625-39. doi: 10.1242/dev.063735. 8. Chabchoub I, Boukédi A, Turki H, Aloulou H, Kamoun T, Hachicha M. Jarcho-Levin syndrome: report on one case. Arch Pediatr. 2010;17(4):426-8. doi: 10.1016/j.arcped.2010.01.008. 9. Basaran A, Deren O, Onderoğlu LS. Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia. Am J Perinatol. 2010;27(3):189-92. doi: 10.1055/s-0029-1234031. 10. Guzelmansur I, Ceylaner G, Ceylaner S, Ceylan N, Daplan T. Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 2013;24(3):319-25. 11. Geze S, Arslan U, Tusat M. Anaesthesia for infant with Jarcho Levin syndrome: case report. Braz J Anesthesiol. 2015;65(5):414-6. doi: 10.1016/j.bjane.2012.12.005. 12. McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. Review of cervical spine anomalies in genetic syndromes. Spine (Phila Pa 1976). 2012;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. |
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Rondón Tapia, Marta746ac372d4f4b389c50e8582e2a7f56b300Reyna Villasmil, Eduardo3b512367dfc5517e0abaabf4232b69c2Torres Cepeda, Dulybcd04aec327fffc612bf480259598f1f2018-10-26 00:00:002022-02-21T20:34:26Z2018-10-262018-10-26 00:00:002022-02-21T20:34:26ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Saludhttps://revistas.fucsalud.edu.co/index.php/repertorio/article/view/208síndrome de Jarcho-Levindiagnóstico prenatalecografíafetoJarcho–Levin syndromeSpondylocostal dysostosisPrenatal diagnosisUltrasoundfetusDiagnóstico prenatal del síndrome de Jarcho-LevinPrenatal diagnosis of Jarcho-Levin syndromeapplication/pdftext/htmlapplication/epub+zipapplication/xmlaudio/mpegArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.v27.n3.2018.2080121-7372https://repositorio.fucsalud.edu.co/handle/001/21282462-991Xhttps://doi.org/10.31260/RepertMedCir.v27.n3.2018.208spaDemir N, Peker E, Gülşen İ, Ağengin K, Kaba S, Tuncer O. A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome. J Child Neurol. 2016;31(4):415-20. doi: 10.1177/0883073815596614. 2. Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP. Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation. Am J Case Rep. 2016;17:745-748. 3. Yurttutan S, Değirmencioğlu H, Oncel MY, Kara S, Sari F, Dilmen U. Jarcho-Levin syndrome presenting with severe hydrocephalus: a report of three cases. Genet Couns. 2013;24(4):361-6. 4. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. 5. Anjankar SD, Subodh R. Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. J Pediatr Neurosci. 2014;9(3):249-52. doi: 10.4103/1817-1745.147580. 6. Legare JM, Seaborg K, Laffin J, Giampietro PF. Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. Am J Med Genet A. 2017;173(10):2808-2813. doi: 10.1002/ajmg.a.38395. 7. Oates AC, Morelli LG, Ares S. Patterning embryos with oscillations: structure, function and dynamics of the vertebrate segmentation clock. Development. 2012;139(4):625-39. doi: 10.1242/dev.063735. 8. Chabchoub I, Boukédi A, Turki H, Aloulou H, Kamoun T, Hachicha M. Jarcho-Levin syndrome: report on one case. Arch Pediatr. 2010;17(4):426-8. doi: 10.1016/j.arcped.2010.01.008. 9. Basaran A, Deren O, Onderoğlu LS. Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia. Am J Perinatol. 2010;27(3):189-92. doi: 10.1055/s-0029-1234031. 10. Guzelmansur I, Ceylaner G, Ceylaner S, Ceylan N, Daplan T. Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 2013;24(3):319-25. 11. Geze S, Arslan U, Tusat M. Anaesthesia for infant with Jarcho Levin syndrome: case report. Braz J Anesthesiol. 2015;65(5):414-6. doi: 10.1016/j.bjane.2012.12.005. 12. McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. Review of cervical spine anomalies in genetic syndromes. Spine (Phila Pa 1976). 2012;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded.https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/281https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/352https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/353https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/410https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/424https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/705Núm. 3 , Año 2018 : Septiembre - Diciembre174317127Revista Repertorio de Medicina y Cirugíainfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2PublicationOREORE.xmltext/xml2523https://repositorio.fucsalud.edu.co/bitstreams/e90197ee-dd0b-47f7-ba2b-06eaa0291c59/download51e03ee0b26e0868c0b584b0dc93a36aMD51001/2128oai:repositorio.fucsalud.edu.co:001/21282024-02-02 13:08:24.018https://creativecommons.org/licenses/by-nc-sa/4.0/metadata.onlyhttps://repositorio.fucsalud.edu.coRepositorio Digital de la Fundación Universitaria de Ciencias de la Saludredi@fucsalud.edu.co |