Interpretation of the first international consensus for Cornelia de Lange syndrome.
- Author:
Ping ZHOU
1
;
Lin ZHU
;
Qiong-Li FAN
;
Li CHEN
Author Information
1. Growth, Development and Mental Health Center for Child and Adolescent, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/China International Science and Technology Cooperation Base of Child Development and Critical Disorders/Chongqing Key Laboratory of Child Health and Nutrition, Chongqing 400014, China. chenli@cqmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Consensus;
De Lange Syndrome;
Humans
- From:
Chinese Journal of Contemporary Pediatrics
2020;22(8):815-820
- CountryChina
- Language:Chinese
-
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.
