Meu SciELO
Serviços Personalizados
Journal
Artigo
Indicadores
- Citado por SciELO
- Acessos
Links relacionados
- Citado por Google
- Similares em SciELO
- Similares em Google
Compartilhar
Pediatría Atención Primaria
versão impressa ISSN 1139-7632
Resumo
BERMUDEZ-DE CASTRO-LOPEZ, Elena. Beckwith Wiedemann syndrome in Primary Care. Example of the importance of associationism in rare diseases. Rev Pediatr Aten Primaria [online]. 2022, vol.24, n.96, pp.429-434. Epub 04-Mar-2024. ISSN 1139-7632.
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.
Palavras-chave : Beckwith Wiedemann Syndrome; Macroglossia; Rare Diseases.