| Literature DB >> 26294167 |
Mariel Ormazabal1, Nelly Vaccari2, Roberto Szulepa2, María P Bidondo1, Pablo Barbero1, Boris Groisman1.
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.Entities:
Mesh:
Year: 2015 PMID: 26294167 DOI: 10.5546/aap.2015.e299
Source DB: PubMed Journal: Arch Argent Pediatr ISSN: 0325-0075 Impact factor: 0.635