Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
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DOI：
10.1038/nrendo.2017.166
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发表时间：
2018-04
期刊：
影响因子：
--
通讯作者：
Maher ER
中科院分区：
文献类型：
--
作者：
Brioude F;Kalish JM;Mussa A;Foster AC;Bliek J;Ferrero GB;Boonen SE;Cole T;Baker R;Bertoletti M;Cocchi G;Coze C;De Pellegrin M;Hussain K;Ibrahim A;Kilby MD;Krajewska-Walasek M;Kratz CP;Ladusans EJ;Lapunzina P;Le Bouc Y;Maas SM;Macdonald F;Õunap K;Peruzzi L;Rossignol S;Russo S;Shipster C;Skórka A;Tatton-Brown K;Tenorio J;Tortora C;Grønskov K;Netchine I;Hennekam RC;Prawitt D;Tümer Z;Eggermann T;Mackay DJG;Riccio A;Maher ER
Beckwith-Wiedemann综合征(BWS)是一种以表型变异为特征的人类基因组印迹疾病，可能包括过度生长、巨舌症、腹壁缺陷、新生儿低血糖、偏侧性过度生长和易患胚胎肿瘤。描绘印记的11p15.5区域内的分子缺陷可以预测家族复发的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仍存在明显的异质性。正如这份共识声明中所述，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，包括从产前到成年期的分子调查、护理和治疗的综合方案。共识建议适用于有Beckwith-Wiedemann谱(BWSp)的患者，包括未经分子诊断的经典BWS和具有11p15.5分子异常的BWS相关表型。尽管共识小组建议以分子亚组为目标的肿瘤监测计划，但监测可能因当地医疗体系(例如在美国)而不同，定向和普遍监测的结果应进行前瞻性评估。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计，以扩大设计最佳护理路径的证据基础。Beckwith-Wiedemann综合征是一种以多种多样的临床表型和复杂的分子病因学为特征的过度生长障碍。这份共识声明总结了对新定义的Beckwith-Wiedemann谱的临床适应症、分子诊断和管理的建议。
Beckwith–Wiedemann syndrome(BWS), a human genomic imprinting disorder is characterised by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised 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 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment 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 recommend a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local healthcare system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways. Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarises recommendations for clinical indications, molecular diagnosis and management of the newly defined Beckwith–Wiedemann spectrum.
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影响因子：
3.5
作者：
Beygo J;Citro V;Sparago A;De Crescenzo A;Cerrato F;Heitmann M;Rademacher K;Guala A;Enklaar T;Anichini C;Cirillo Silengo M;Graf N;Prawitt D;Cubellis MV;Horsthemke B;Buiting K;Riccio A
通讯作者：
Riccio A
影响因子：
2.7
作者：
Bémurat, L;Gosse, P;Clémenty, J
通讯作者：
Clémenty, J
影响因子：
1.9
作者：
Alders, Marielle;Maas, Saskia M.;Mannens, Marcel M. A. M.
通讯作者：
Mannens, Marcel M. A. M.
影响因子：
3.9
作者：
Brioude, Frederic;Netchine, Irene;Rossignol, Sylvie
通讯作者：
Rossignol, Sylvie
影响因子：
5.2
作者：
Bliek, Jet;Alders, Marielle;Mannens, Marcel M. A. M.
通讯作者：
Mannens, Marcel M. A. M.