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Diagnóstico prenatal del síndrome de Jarcho-Levin

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dc.contributor.authorRondón Tapia, Martaspa
dc.contributor.authorReyna Villasmil, Eduardospa
dc.contributor.authorTorres Cepeda, Dulyspa
dc.date.accessioned2018-10-26 00:00:00
dc.date.accessioned2022-02-21T20:34:26Z
dc.date.available2018-10-26 00:00:00
dc.date.available2022-02-21T20:34:26Z
dc.date.issued2018-10-26
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dc.identifier.doi10.31260/RepertMedCir.v27.n3.2018.208
dc.identifier.eissn2462-991X
dc.identifier.issn0121-7372
dc.identifier.urihttps://repositorio.fucsalud.edu.co/handle/001/2128
dc.identifier.urlhttps://doi.org/10.31260/RepertMedCir.v27.n3.2018.208
dc.language.isospaspa
dc.publisherSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Saludspa
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dc.relation.citationeditionNúm. 3 , Año 2018 : Septiembre - Diciembrespa
dc.relation.citationendpage174
dc.relation.citationissue3spa
dc.relation.citationstartpage171
dc.relation.citationvolume27spa
dc.relation.ispartofjournalRevista Repertorio de Medicina y Cirugíaspa
dc.relation.referencesDemir 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.spa
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dc.sourcehttps://revistas.fucsalud.edu.co/index.php/repertorio/article/view/208spa
dc.subjectsíndrome de Jarcho-Levinspa
dc.subjectdiagnóstico prenatalspa
dc.subjectecografíaspa
dc.subjectfetospa
dc.subjectJarcho–Levin syndromeeng
dc.subjectSpondylocostal dysostosiseng
dc.subjectPrenatal diagnosiseng
dc.subjectUltrasoundeng
dc.subjectfetuseng
dc.titleDiagnóstico prenatal del síndrome de Jarcho-Levinspa
dc.title.translatedPrenatal diagnosis of Jarcho-Levin syndromeeng
dc.typeArtículo de revistaspa
dc.typeJournal articleeng
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dc.type.driverinfo:eu-repo/semantics/articlespa
dc.type.versioninfo:eu-repo/semantics/publishedVersionspa
dspace.entity.typePublication

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