Titulo:
Osteogénesis imperfecta III: a propósito de un caso de difícil diagnóstico
.
Guardado en:
0121-7372
2462-991X
2020-04-06
http://purl.org/coar/access_right/c_abf2
info:eu-repo/semantics/openAccess
Revista Repertorio de Medicina y Cirugía - 2020
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Osteogénesis imperfecta III: a propósito de un caso de difícil diagnóstico : Pre-Print Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud Gutierrez Vargas, Maria Camila Artículo de revista Revista Repertorio de Medicina y Cirugía Ostos Alfonso, Henry Journal article http://purl.org/coar/version/c_970fb48d4fbd8a85 http://purl.org/coar/access_right/c_abf2 Text 10.31260/RepertMedCir.01217372.1525 https://doi.org/10.31260/RepertMedCir.01217372.1525 info:eu-repo/semantics/openAccess info:eu-repo/semantics/publishedVersion https://creativecommons.org/licenses/by-nc-sa/4.0/ Revista Repertorio de Medicina y Cirugía - 2020 https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/1525 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/1525/2791 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 http://purl.org/redcol/resource_type/ARTREF Rossi V, Lee B, Marom R. Osteogenesis imperfecta: advancements in genetics and treatment. Curr Opin Pediatr. 2019;31(6):708-715. doi: 10.1097/MOP.0000000000000813. 2. Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017;3:17052. doi: 10.1038/nrdp.2017.52. 3. Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020;183(4):R95-R106. doi: 10.1530/EJE-20-0299. 4. Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657-71. doi: 10.1016/S0140-6736(15)00728-X. 5. Instituto Nacional de Salud. Informe de evento de enfermedades huérfanas-raras, Colombia 2019. Colombia: Instituto Nacional de Salud, Minsalud; 2019. p. 14–34. 6. Tauer JT, Robinson ME, Rauch F. Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research. JBMR Plus. 2019;3(8):e10174. doi: 10.1002/jbm4.10174. 7. Robinson ME, Rauch F. Mendelian bone fragility disorders. Bone. 2019;126:11-17. doi: 10.1016/j.bone.2019.04.021. 8. Tüysüz B, Elkanova L, Uludağ Alkaya D, Güleç Ç, Toksoy G, Güneş N, Yazan H, Bayhan AI, Yıldırım T, Yeşil G, Uyguner ZO. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants. Bone. 2022;155:116293. doi: 10.1016/j.bone.2021.116293. 9. Shi Y, Zhang B, Kong F, Li X. Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors. Medicine (Baltimore). 2018;97(29):e11471. doi: 10.1097/MD.0000000000011471. 10. Weaver JS, Revels JW, Elifritz JM, Whitlow B, Retrouvey M, Wang SS. Clinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood. Acta Med Acad. 2021;50(2):277-291. doi: 10.5644/ama2006-124.343. 11. Stembalska A, Dudarewicz L, Śmigiel R. Lethal and life-limiting skeletal dysplasias: Selected prenatal issues. Adv Clin Exp Med. 2021;30(6):641-647. doi: 10.17219/acem/134166. 12. Li L, Mao B, Li S, Xiao J, Wang H, Zhang J, Ren X, Wang Y, Wu Y, Cao Y, Lu C, Gao J, You Y, Zhao F, et al. Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. Hum Mutat. 2019 May;40(5):588-600. doi: 10.1002/humu.23718. 13. Arshad F, Bishop N. Osteogenesis imperfecta in children. Bone. 2021;148:115914. doi: 10.1016/j.bone.2021.115914. 14. Yunisova G, Ceylaner S, Oflazer P, Deymeer F, Parman YG, Durmus H. Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study. Neuromuscul Disord. 2022;32(9):718-727. doi: 10.1016/j.nmd.2022.07.397. 15. Nutchoey O, Intarak N, Theerapanon T, Thaweesapphithak S, Boonprakong L, Srijunbarl A, Porntaveetus T, Shotelersuk V. Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021;131(6):694-701. doi: 10.1016/j.oooo.2021.01.003. 16. Cole DE, Carpenter TO. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr. 1987;110(1):76-80. doi: 10.1016/s0022-3476(87)80292-5. 17. Carré F, Achard S, Rouillon I, Parodi M, Loundon N. Hearing impairment and osteogenesis imperfecta: Literature review. Eur Ann Otorhinolaryngol Head Neck Dis. 2019;136(5):379-383. doi: 10.1016/j.anorl.2019.05.004. 18. Cho TJ, Ko JM, Kim H, Shin HI, Yoo WJ, Shin CH. Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach. Clin Orthop Surg. 2020;12(4):417-429. doi: 10.4055/cios20060. application/pdf 2462-991X Imperfect osteogenesis Osteogénesis imperfecta COL1A2 Fracturas patológicas Hipoacusia Hipotonía Reporte de caso COL1A2 0121-7372 Pathological fractures Hearing loss Hypotonia Case Report 2020-04-06 16:33:03 2020-04-06 16:33:03 2020-04-06 Publication |
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FUNDACIÓN UNIVERSITARIA DE CIENCIA DE LA SALUD |
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https://nuevo.metarevistas.org/FUNDACIONUNIVERSITARIADECIENCIADELASALUD/logo.png |
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Colombia |
| collection |
Revista Repertorio de Medicina y Cirugía |
| title |
Osteogénesis imperfecta III: a propósito de un caso de difícil diagnóstico |
| spellingShingle |
Osteogénesis imperfecta III: a propósito de un caso de difícil diagnóstico Gutierrez Vargas, Maria Camila Ostos Alfonso, Henry Imperfect osteogenesis Osteogénesis imperfecta COL1A2 Fracturas patológicas Hipoacusia Hipotonía Reporte de caso COL1A2 Pathological fractures Hearing loss Hypotonia Case Report |
| title_short |
Osteogénesis imperfecta III: a propósito de un caso de difícil diagnóstico |
| title_full |
Osteogénesis imperfecta III: a propósito de un caso de difícil diagnóstico |
| title_fullStr |
Osteogénesis imperfecta III: a propósito de un caso de difícil diagnóstico |
| title_full_unstemmed |
Osteogénesis imperfecta III: a propósito de un caso de difícil diagnóstico |
| title_sort |
osteogénesis imperfecta iii: a propósito de un caso de difícil diagnóstico |
| author |
Gutierrez Vargas, Maria Camila Ostos Alfonso, Henry |
| author_facet |
Gutierrez Vargas, Maria Camila Ostos Alfonso, Henry |
| topic |
Imperfect osteogenesis Osteogénesis imperfecta COL1A2 Fracturas patológicas Hipoacusia Hipotonía Reporte de caso COL1A2 Pathological fractures Hearing loss Hypotonia Case Report |
| topic_facet |
Imperfect osteogenesis Osteogénesis imperfecta COL1A2 Fracturas patológicas Hipoacusia Hipotonía Reporte de caso COL1A2 Pathological fractures Hearing loss Hypotonia Case Report |
| citationedition |
: Pre-Print |
| publisher |
Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud |
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Revista Repertorio de Medicina y Cirugía |
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https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/1525 |
| language |
|
| format |
Article |
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http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/4.0/ Revista Repertorio de Medicina y Cirugía - 2020 |
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info:eu-repo/semantics/article |
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http://purl.org/coar/resource_type/c_6501 |
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info:eu-repo/semantics/publishedVersion |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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Text |
| publishDate |
2020-04-06 |
| date_accessioned |
2020-04-06 16:33:03 |
| date_available |
2020-04-06 16:33:03 |
| url |
https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/1525 |
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https://doi.org/10.31260/RepertMedCir.01217372.1525 |
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0121-7372 |
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2462-991X |
| doi |
10.31260/RepertMedCir.01217372.1525 |
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https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/1525/2791 |
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