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Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient “G”

✍ Scribed by Humberto Arboleda; Gonzalo Arboleda

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
250 KB
Volume
73
Category
Article
ISSN
1542-0752

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✦ Synopsis

Abstract

BACKGROUND

Wiedemann‐Rautenstrauch syndrome (WRS) characterizes a neonatal progeroid entity. In the last 30 years, 28 cases have been reported. In most cases of WRS, survival is short and long‐term studies are impossible.

CASE

In the present report, we describe a patient with WRS followed for 17 years at the Instituto de Genética, Universidad Nacional de Colombia; this is an exceptional survival period for a person with WRS. The information collected through 17 years for the present patient provides new knowledge about the natural evolution of this syndrome. New clinical and laboratory characteristics are compared with those reported for Rautenstrauch's patient “G.”

CONCLUSIONS

Our results confirm the variability of this syndrome, especially at the neurological level. However, many etiological and pathological aspects of this syndrome remain unknown. Birth Defects Research (Part A), 2005. © 2005 Wiley‐Liss, Inc.

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