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Case Reports
. 2010 Aug;73(2):94-7.
doi: 10.1016/j.anpedi.2010.02.012. Epub 2010 May 10.

[Atypical Werner syndrome: Atypical progeroid syndrome: A case report]

[Article in Spanish]
A Barrios Sanjuanelo  1 , C Muñoz Otero
Affiliations
Free article
Case Reports

[Atypical Werner syndrome: Atypical progeroid syndrome: A case report]

[Article in Spanish]
A Barrios Sanjuanelo et al. An Pediatr (Barc). 2010 Aug.
Free article

Abstract

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 girl, with characteristics of WS but with no identifiable mutation in the WRN gene, therefore it was classified as atypical Werner Syndrome (AWS).

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