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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
[Acheiropodia: first case report in Argentina]
Mariel Ormazabal1, Nelly Vaccari2, Roberto Szulepa2
1ANLIS, Centro Nacional de Genética Médica E. Castilla, Registro Nacional de Anomalías Congénitas de Argentina, Buenos Aires.
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.

