Atypical Werner syndrome: Atypical progeroid syndrome: A case report

被引：1

作者：

Barrios Sanjuanelo, A. ^{[1
]}

Munoz Otero, C. ^{[2
]}

机构：

[1] Univ Norte, Serv Pediat, Barranquilla, Colombia

[2] Hosp Pediat Barranquilla, Serv Pediat, Barranquilla, Colombia

来源：

ANALES DE PEDIATRIA | 2010年 / 73卷 / 02期

关键词：

Werner syndrome; Atypical; Progeria; Progeroid syndrome; Scleroderma;

D O I：

10.1016/j.anpedi.2010.02.012

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

Progeria is a premature ageing syndrome. Werner Syndrome (WS) is a type of progeria in the adult which includes bilateral juvenile cataracts and cutaneous sclerodermiform changes; it is caused by a mutation if the WRN gene which codes a helicase, a DNA repair enzyme. A case is presented of a patient, a 12 year old girt, with characteristics of WS but with no identifiable mutation in the WRN gene, therefore it was classified as atypical Werner Syndrome (AWS). (C) 2009 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved.

引用

页码：94 / 97

页数：4

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