[Acheiropodia: first case report in Argentina].

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.

• Authors: Mariel Ormazabal, Nelly Vaccari, Roberto Szulepa, María P Bidondo, Pablo Barbero, Boris Groisman
• Journal: Archivos argentinos de pediatria (Arch Argent Pediatr) Vol. 113 Issue 5 Pg. e299-303 (Oct 2015) ISSN: 1668-3501 [Electronic] Argentina
• Vernacular Title: Aqueiropodia: primer reporte de caso en Argentina.
• PMID: 26294167 (Publication Type: Case Reports, Journal Article)

Topics

• Argentina
• Diseases in Twins
• Foot Deformities, Congenital (diagnosis)
• Hand Deformities, Congenital (diagnosis)
• Humans
• Infant, Newborn
• Male
• Phenotype