[Acheiropodia: first case report in Argentina]

Arch Argent Pediatr. 2015 Oct;113(5):e299-303. doi: 10.5546/aap.2015.e299.
[Article in Spanish]

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.

Publication types

  • Case Reports

MeSH terms

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

Supplementary concepts

  • Acheiropodia