Please use this identifier to cite or link to this item:
http://sgc.anlis.gob.ar/handle/123456789/1790
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Ormazábal, Mariel | es |
dc.contributor.author | Vaccari, Nelly | es |
dc.contributor.author | Szulepa, Roberto | es |
dc.contributor.author | Bidondo, María Paz | es |
dc.contributor.author | Barbero, Pablo | es |
dc.contributor.author | Groisman, Boris | es |
dc.date.accessioned | 2020-12-02T14:21:55Z | - |
dc.date.available | 2020-12-02T14:21:55Z | - |
dc.date.issued | 2015-10 | - |
dc.identifier.issn | 1668-3501 | - |
dc.identifier.uri | http://sgc.anlis.gob.ar/handle/123456789/1790 | - |
dc.description | Fil: Ormazabal, Mariel. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. | es |
dc.description | Fil: Vaccari, Nelly. Hospital SAMIC Oberá, Servicio de Neonatología; Misiones, Argentina. | es |
dc.description | Fil: Szulepa, Roberto. Hospital SAMIC Oberá, Servicio de Neonatología; Misiones, Argentina. | es |
dc.description | Fil: Bidondo, María P. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. | es |
dc.description | Fil: Barbero, Pablo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. | es |
dc.description | Fil: Groisman, Boris. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. | es |
dc.description.abstract | Acheiropodia is a very rare disease with autosomal recessive inheritance characterized by limb reduction defects. It has been described mainly in Brazil. The aim of this report is to describe the first reported cases in Argentina in two affected twins. Patients were reported to the National Registry of Congenital Anomalies of Argentina (RENAC). Both twins had limb reduction defect including hands, forearms, feet and fibulae. These patients are the first reported cases of acheiropodia syndrome in Argentina. Immigration from Brazil could explain this case in our population. | es |
dc.format | - | |
dc.language.iso | es | es |
dc.relation | datasets | es |
dc.relation.ispartof | Archivos argentinos de pediatria | es |
dc.rights | Open Access | - |
dc.rights | Creative Commons Attribution 4.0 International License | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc/4.0/deed.es | - |
dc.subject | Enfermedades en Gemelos | es |
dc.subject | Deformidades Congénitas de la Mano | es |
dc.subject | Deformidades Congénitas del Pie | es |
dc.subject | Recién Nacido | es |
dc.title | Aqueiropodia : primer reporte de caso en Argentina | es |
dc.title.alternative | Acheiropodia: first case report in Argentina | es |
dc.type | Artículo | es |
dc.identifier.doi | 10.5546/aap.2015.e299 | - |
anlis.essnrd | 1 | - |
item.grantfulltext | open | - |
item.languageiso639-1 | es | - |
item.fulltext | With Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.openairetype | Artículo | - |
crisitem.author.dept | Centro Nacional de Genética Médica (CeNaGeM) | - |
crisitem.author.dept | Registro Nacional de Anomalías Congénitas (RENAC) | - |
crisitem.author.dept | Centro Nacional de Genética Médica (CeNaGeM) | - |
crisitem.author.dept | Registro Nacional de Anomalías Congénitas (RENAC) | - |
crisitem.author.dept | Centro Nacional de Genética Médica (CeNaGeM) | - |
crisitem.author.dept | Registro Nacional de Anomalías Congénitas (RENAC) | - |
crisitem.author.parentorg | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
crisitem.author.parentorg | Instituto Nacional de Epidemiología (INE) | - |
crisitem.author.parentorg | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
crisitem.author.parentorg | Instituto Nacional de Epidemiología (INE) | - |
crisitem.author.parentorg | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
crisitem.author.parentorg | Instituto Nacional de Epidemiología (INE) | - |
Appears in Collections: | Publicaciones CeNaGeM |
Files in This Item:
File | Description | Size | Format | |
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AAP_2015_113(5)_299-303.pdf | Artículo en español | 214.11 kB | Adobe PDF | View/Open |
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