title: [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: ANLIS, Centro Nacional de Genética Médica E. Castilla, Registro Nacional de Anomalías Congénitas de Argentina, Buenos Aires.
authors: Mariel
authors: M
authors: Ormazabal
authors: Hospital SAMIC, Servicio de Neonatología, Registro Nacional de Anomalías Congénitas de Argentina, Oberá, Argentina.
authors: Nelly
authors: N
authors: Vaccari
authors: Hospital SAMIC, Servicio de Neonatología, Registro Nacional de Anomalías Congénitas de Argentina, Oberá, Argentina.
authors: Roberto
authors: R
authors: Szulepa
authors: ANLIS, Centro Nacional de Genética Médica E. Castilla, Registro Nacional de Anomalías Congénitas de Argentina, Buenos Aires.
authors: María P
authors: MP
authors: Bidondo
authors: ANLIS, Centro Nacional de Genética Médica E. Castilla, Registro Nacional de Anomalías Congénitas de Argentina, Buenos Aires.
authors: Pablo
authors: P
authors: Barbero
authors: ANLIS, Centro Nacional de Genética Médica E. Castilla, Registro Nacional de Anomalías Congénitas de Argentina, Buenos Aires.
authors: Boris
authors: B
authors: Groisman
mesh_terms: D001118:Argentina; D004200:Diseases in Twins; D005532:Foot Deformities, Congenital / Q000175:diagnosis*; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype