Sorbonne Université, Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, 26 Avenue du Docteur Arnold Netter, F-75012 Paris, France.
Division of Human Genetics, Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29.
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.
贝-威二氏综合征（BWS）是一种人类基因组印记紊乱，其特征是表型的可变性，可能包括过度生长、巨舌、腹壁缺陷、新生儿低血糖、侧位过度生长和胚胎肿瘤易感性。在印记的 11p15.5 区域内分子缺陷的描绘可以预测家族性复发风险和胚胎肿瘤的风险（和类型）。尽管最近在知识方面取得了进展，但临床诊断标准和护理方面存在明显的异质性。正如本共识声明中详述的那样，一个国际共识小组就 BWS 的临床和分子诊断和管理达成了 72 项建议，包括对从产前到成年期的患者进行分子研究、护理和治疗的综合方案。共识建议适用于具有贝-威二氏综合征谱（BWSp）的患者，涵盖无分子诊断的经典 BWS 和具有 11p15.5 分子异常的 BWS 相关表型。尽管共识小组建议根据分子亚组进行肿瘤监测计划，但监测可能因当地医疗保健系统（例如在美国）而异，应前瞻性评估靶向和普遍监测的结果。需要国际合作，包括对实施这些共识建议的结果进行前瞻性审核，以扩大最佳护理途径设计的证据基础。
