Interpretation of the first international consensus for Cornelia de Lange syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 815-820, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-828661
ABSTRACT
Cornelia de Lange syndrome (CdLS) is a genetic syndrome with severe neurodevelopmental disorders as the main manifestation. Its clinical manifestations included mental retardation, typical facial features, intrauterine and postnatal developmental delay, and deformity in multiple organs and systems, with an incidence rate of about 1/10000 to 1/30000. International CdLS Consensus Group was established in 2017 and issued the first international consensus on CdLS, i.e., "Diagnosis and management of Cornelia de Lange syndrome first international consensus statement", in July 2018. Being developed through a modified Delphi consensus process, this consensus provides guidance on the diagnosis and management of children with CdLS. This article gives an interpretation of this consensus, aiming to help clinicians with early identification, diagnosis, standard follow-up, and management of this disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Cornélia de Lange
/
Consenso
Tipo de estudo:
Guia de Prática Clínica
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2020
Tipo de documento:
Artigo
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