Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Rosario Ramos Mejía"'
Autor:
Claudio Primomo, Francisco Monterroza-Quintana, Rodolfo Goyeneche, Rosario Ramos-Mejía, Virginia Fano
Publikováno v:
J Pediatr Genet
Acetabular protrusion (AP) is present in 33 to 55% of patients with osteogenesis imperfecta (OI). Even though the finding is relatively common, it is poorly described in pediatric patients. The objective of this study was to describe the incidence an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc3c741aee87dd745e1357febe17d16a
https://europepmc.org/articles/PMC9848761/
https://europepmc.org/articles/PMC9848761/
Autor:
Miriam Aza-Carmona, Mariana del Pino, Virginia Fano, Karen E. Heath, Rosario Ramos Mejía, María Gabriela Obregon
Publikováno v:
J Pediatr Genet
Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of cases of HC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::893d19bd77e1a95f304f82c277ad33de
https://doi.org/10.1055/s-0039-1695056
https://doi.org/10.1055/s-0039-1695056
Autor:
Carlos Ferreira, Karina C. Silveira, Virginia Fano, Rosario Ramos Mejía, Cristián García, Cecilia Mellado, Cynthia Silveira, Denise P. Cavalcanti, Maria Dora Jazmin Lacarrubba-Flores, Mariana del Pino, Angélica Moresco, Silvia Caino, Guillermo Lay-Son
Publikováno v:
Am J Med Genet C Semin Med Genet
Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29ab49a99067eef9998c5ef599d7d62f
https://pubmed.ncbi.nlm.nih.gov/33219737
https://pubmed.ncbi.nlm.nih.gov/33219737
Autor:
Rodolfo Goyeneche, Rosario Ramos Mejía, Jhonny Carreño, José Bazán, Silvia Caino, Romina Putero, Virginia Fano
Publikováno v:
Revista Colombiana de Ortopedia y Traumatología. 32:121-127
Resumen Introduccion En nuestro centro, el tratamiento quirurgico mas utilizado en ninos con asimetria de longitud de miembros inferiores es la epifisiodesis definitiva percutanea. El objetivo del estudio es describir los resultados hasta la madurez
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33b6f4f14d273d08d16025fed4f0c09f
https://doi.org/10.1016/j.rccot.2017.09.004
https://doi.org/10.1016/j.rccot.2017.09.004
Publikováno v:
American Journal of Medical Genetics Part A. 176:896-906
Achondroplasia is the most common form of inherited disproportionate short stature. We report leg length, sitting height, and body proportion curves for achondroplasia. Seven centile format of sitting height, leg length, sitting height/leg length rat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62c81d23246ee335c129d2ac9d963de3
https://doi.org/10.1002/ajmg.a.38633
https://doi.org/10.1002/ajmg.a.38633
Autor:
Juan C Hernández, Victoria Allende, Dalia Sepúlveda Arriagada, Laura Collado, Leopoldo Lonegro, Eduardo Stéfano, Darío Filippo, Rodolfo Goyeneche, Graciela Infesta, Juliana Lostra, Horacio Miscione, Silvia Caino, J Javier Masquijo, Martín D'Elía, Alberto Navarro Fretes, Virginia Fano, Guillermo Fernández, Rosario Ramos Mejía, Mónica Galeano, Claudia Casalis
Publikováno v:
Archivos Argentinos de Pediatria. 117
Leg length discrepancy is when the length of one leg is different from the other, and is a common reason for consultation at the pediatrician's and pediatric orthopedist's office. The objective of this study was to develop recommendations for the fol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0092fcd8b6ffbb12abe0f87fe377969c
https://doi.org/10.5546/aap.2019.eng.94
https://doi.org/10.5546/aap.2019.eng.94
Publikováno v:
Archivos Argentinos de Pediatria. 116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc43108dd02ee2496d1d736b45139078
https://doi.org/10.5546/aap.2018.e560
https://doi.org/10.5546/aap.2018.e560
Publikováno v:
Archivos argentinos de pediatria. 116(6)
When height cannot be measured or does not account for actual bone growth in children, due to their condition, it may be estimated using equations based on body segments.1. To compare observed height (OH) and predicted height (PH) based on body segme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d21fc9375f639045d447763255bc1d2
https://pubmed.ncbi.nlm.nih.gov/30457720
https://pubmed.ncbi.nlm.nih.gov/30457720
Publikováno v:
Archivos argentinos de pediatria. 116(4)
Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia caused by mutations in the RUNX2 gene; its prevalence has been estimated at 1/1 000 000 newborn infants. This study presents 37 patients (22 girls) assessed between 1992 and 2016 at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eadd3b9b679c8a155d2a3202f3c9cde
https://pubmed.ncbi.nlm.nih.gov/30016033
https://pubmed.ncbi.nlm.nih.gov/30016033
Publikováno v:
Archivos Argentinos de Pediatria. 113
UNLABELLED Asphyxiating thoracic dysplasia is an uncommon condition with multiple organ affectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd0150746c0102ddfe126f9e8844740f
https://doi.org/10.5546/aap.2015.e357
https://doi.org/10.5546/aap.2015.e357