Advertisement
Nutribén 60 años
Article not rated

Vol. 24 - Num. 96

Special Articles

Beckwith Wiedemann syndrome in Primary Care. Example of the importance of associationism in rare diseases

Elena Bermúdez de Castro Lópeza

aPediatra. CS San Blas. Parla. Madrid. España.

Correspondence: E Bermúdez. E-mail: elena.bermudez@salud.madrid.org

Reference of this article: Bermúdez de Castro López E. Beckwith Wiedemann syndrome in Primary Care. Example of the importance of associationism in rare diseases . Rev Pediatr Aten Primaria. 2022;24:429-34.

Published in Internet: 29-12-2022 - Visits: 701

Abstract

Beckwith Wiedemann syndrome is a rare disease with a prevalence of 1 in 10,340 persons. It is characterized by macrosomia, macroglossia, abdominal wall defects, organomegaly, lateralized overgrowth and an increased risk of tumor development in the first years of life. This article presents an updated protocol for the management of this pathology in the primary care clinic. On the other hand, this syndrome serves as an example to illustrate the important role that patient associations play in supporting these individuals and their families, as well as in increasing the visibility of rare diseases and encouraging research.

Keywords

Beckwith Wiedemann Syndrome Macroglossia Rare Diseases

Comments

This article has no comments yet.