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[Acheiropodia: first case report in Argentina].

Archivos argentinos de pediatria - 1 Oct 2015

Ormazabal Mariel, Vaccari Nelly, Szulepa Roberto, Bidondo María P, Barbero Pablo, Groisman Boris

Abstract excerpt

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...

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

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