Literature DB >> 26294167

[Acheiropodia: first case report in Argentina].

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.

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Year:  2015        PMID: 26294167     DOI: 10.5546/aap.2015.e299

Source DB:  PubMed          Journal:  Arch Argent Pediatr        ISSN: 0325-0075            Impact factor:   0.635


  1 in total

1.  Novel bilateral symmetrical congenital transverse upper and lower limb deficiencies in siblings in Ethiopia: two case reports.

Authors:  Amen Samuel Melaku; Fiker Tadesse Bekele; Yilkal Muchie Dires; Laurence Wicks
Journal:  J Med Case Rep       Date:  2022-06-02
  1 in total

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