Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can present with a variety of clinical features, leading to the newly defined Beckwith-Wiedemann spectrum (BWSp). The BWSp can be further divided into three subsets of patients: those presenting with classic features, those presenting with isolated lateralized overgrowth (ILO) and those not fitting into the previous two categories, termed atypical BWSp. Previous reports of patients with BWS have focused on those with the more recognizable, classic features, and limited information is available on those who fit into the atypical and ILO categories. Here, we present the first cohort of patients recruited across the entire BWSp, describe clinical features and molecular diagnostic characteristics, and provide insight into practical diagnosis and management recommendations that we have gained from this cohort.

中文翻译：

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Beckwith-Wiedemann光谱的特征：诊断和管理。

Beckwith-Wiedemann综合征（BWS）是最常见的表观遗传过度生长和癌症易感性疾病。由于涉及11p15号染色体的各种分子缺陷和组织镶嵌症，患者可以表现出多种临床特征，从而导致新定义的Beckwith-Wiedemann光谱（BWSp）。BWSp可以进一步分为三类患者：具有典型特征的患者，具有孤立性侧生过度生长（ILO）的患者以及不符合前两类的患者，称为非典型BWSp。先前有关BWS患者的报道主要集中于那些具有更明显，经典特征的患者，而关于非典型和ILO类别患者的信息却很少。在这里，我们介绍了整个BWSp招募的第一批患者，