Cornelia de Lange 综合征的诊断与管理：首次国际共识声明。

Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, MD, USA.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.

Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0.

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

康尼氏综合征（CdLS）是一种典型的遗传综合征，其特征为智力障碍、特征性面部特征、上肢异常和非典型生长等诸多体征和症状。它是由七个基因中的任何一个变异引起的，这些基因在黏合复合物中均具有结构或调节功能。尽管新一代测序技术的进步提高了分子诊断水平，但在全球范围内，临床和分子诊断方法以及护理实践仍存在明显的异质性。在这里，我们概述了一系列建议，记录了一组国际专家对经典康尼氏综合征和非经典康尼氏综合征表型的临床诊断标准、分子研究、长期管理和护理计划的共识。