Latest advances in the diagnosis and treatment of Marfan syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 826-831, 2022.
Article
em Zh
| WPRIM
| ID: wpr-939670
Biblioteca responsável:
WPRO
ABSTRACT
Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Fibrilina-1
/
Síndrome de Marfan
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
/
Newborn
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2022
Tipo de documento:
Article