دورية أكاديمية
Diagnóstico prenatal del síndrome de Jarcho-Levin ; Prenatal diagnosis of Jarcho-Levin syndrome
| العنوان: | Diagnóstico prenatal del síndrome de Jarcho-Levin ; Prenatal diagnosis of Jarcho-Levin syndrome |
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| المؤلفون: | Rondón Tapia, Marta, Reyna Villasmil, Eduardo, Torres Cepeda, Duly |
| المصدر: | https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/208Test. |
| بيانات النشر: | Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | síndrome de Jarcho-Levin, diagnóstico prenatal, ecografía, feto, Jarcho–Levin syndrome, Spondylocostal dysostosis, Prenatal diagnosis, Ultrasound, fetus |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf; text/html; application/epub+zip; application/xml; audio/mpeg |
| اللغة: | Spanish; Castilian |
| تدمد: | 0121-7372 2462-991X |
| العلاقة: | 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.; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/281Test; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/352Test; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/353Test; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/410Test; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/424Test; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/208/705Test; Núm. 3 , Año 2018 : Septiembre - Diciembre; 174; 171; 27; Revista Repertorio de Medicina y Cirugía; https://repositorio.fucsalud.edu.co/handle/001/2128Test; https://doi.org/10.31260/RepertMedCir.v27.n3.2018.208Test |
| DOI: | 10.31260/RepertMedCir.v27.n3.2018.208 |
| الإتاحة: | https://doi.org/10.31260/RepertMedCir.v27.n3.2018.208Test https://doi.org/10.1177/0883073815596614Test https://repositorio.fucsalud.edu.co/handle/001/2128Test |
| حقوق: | info:eu-repo/semantics/openAccess ; https://creativecommons.org/licenses/by-nc-sa/4.0Test/ ; http://purl.org/coar/access_right/c_abf2Test |
| رقم الانضمام: | edsbas.47863651 |
| قاعدة البيانات: | BASE |
| تدمد: | 01217372 2462991X |
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| DOI: | 10.31260/RepertMedCir.v27.n3.2018.208 |