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[无手无足畸形:阿根廷首例病例报告]

[Acheiropodia: first case report in Argentina].

作者信息

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

机构信息

ANLIS, Centro Nacional de Genética Médica E. Castilla, Registro Nacional de Anomalías Congénitas de Argentina, Buenos Aires.

Hospital SAMIC, Servicio de Neonatología, Registro Nacional de Anomalías Congénitas de Argentina, Oberá, Argentina.

出版信息

Arch Argent Pediatr. 2015 Oct;113(5):e299-303. doi: 10.5546/aap.2015.e299.

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.

摘要

无手无足畸形是一种非常罕见的常染色体隐性遗传病,其特征为肢体发育不全缺陷。该病主要在巴西有相关描述。本报告的目的是描述阿根廷首例报告的两名患病双胞胎病例。这些患者已被报告至阿根廷先天性异常国家登记处(RENAC)。这对双胞胎均存在肢体发育不全缺陷,包括手部、前臂、足部和腓骨。这些患者是阿根廷首例报告的无手无足畸形综合征病例。来自巴西的移民可能是我们人群中出现此病例的原因。

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