Aqueiropodia : primer reporte de caso en Argentina
Acheiropodia: first case report in Argentina
| dc.creator | Ormazábal, Mariel | |
| dc.creator | Vaccari, Nelly | |
| dc.creator | Szulepa, Roberto | |
| dc.creator | Bidondo, María Paz | |
| dc.creator | Barbero, Pablo | |
| dc.creator | Groisman, Boris | |
| dc.date | 2020-12-02T14:21:55Z | |
| dc.date | 2020-12-02T14:21:55Z | |
| dc.date | 2015-10 | |
| dc.date.accessioned | 2023-08-29T20:07:27Z | |
| dc.date.available | 2023-08-29T20:07:27Z | |
| dc.identifier | 1668-3501 | |
| dc.identifier | http://sgc.anlis.gob.ar/handle/123456789/1790 | |
| dc.identifier | 10.5546/aap.2015.e299 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8519658 | |
| dc.description | Fil: Ormazabal, Mariel. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. | |
| dc.description | Fil: Vaccari, Nelly. Hospital SAMIC Oberá, Servicio de Neonatología; Misiones, Argentina. | |
| dc.description | Fil: Szulepa, Roberto. Hospital SAMIC Oberá, Servicio de Neonatología; Misiones, Argentina. | |
| dc.description | Fil: Bidondo, María P. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. | |
| dc.description | Fil: Barbero, Pablo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. | |
| dc.description | Fil: Groisman, Boris. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. | |
| dc.description | 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. | |
| dc.format | ||
| dc.language | es | |
| dc.relation | #PLACEHOLDER_PARENT_METADATA_VALUE# | |
| dc.relation | datasets | |
| dc.relation | Archivos argentinos de pediatria | |
| dc.rights | open | |
| dc.subject | Enfermedades en Gemelos | |
| dc.subject | Deformidades Congénitas de la Mano | |
| dc.subject | Deformidades Congénitas del Pie | |
| dc.subject | Recién Nacido | |
| dc.title | Aqueiropodia : primer reporte de caso en Argentina | |
| dc.title | Acheiropodia: first case report in Argentina | |
| dc.type | Artículo |