Cornelia de Lange综合征首个国际共识的解读

Interpretation of the first international consensus for Cornelia de Lange syndrome

摘要:

Cornelia de Lange综合征（CdLS）是一种以严重神经发育障碍为主要表现的遗传综合征，临床表现为智力障碍、典型的面部特征、宫内和生后生长发育迟缓及多器官系统畸形等，发病率约1/10?000~1/30?000。2017年国际CdLS共识小组成立，并于2018年7月发表了国际上首个关于CdLS的共识“Diagnosis and management of Cornelia de Lange syndrome：first international consensus statement”（《Cornelia de Lange综合征的诊断和管理：第一份国际共识声明》）。该共识通过改良德尔菲法制定，对CdLS患儿的诊断和管理提出了若干指导性意见。该文对共识进行解读，旨在帮助临床医生早期识别、诊断、规范随访及管理CdLS患者。

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 1/10 000 to 1/30 000. 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.