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Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.

ABSTRACT: BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder with variable clinical features and cancer predisposition. In this study, we aim to characterize the clinical features and molecular defects of BWS patients in China. METHODS:Thirty-one patients with clinical suspicion of BWS were retrospectively recruited to the study from Shanghai Children's Hospital between January 2014 and December 2017. Clinical data, including demographics, clinical features, and molecular testing results were extracted and systematically analyzed. RESULTS:Twenty-one patients with a BWS score???4 (6, IQR 4, 7) were clinically diagnosed with BWS, and 10 children with a BWS score???2 and?

SUBMITTER: Wang R

PROVIDER: S-EPMC7191772 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.

Wang Ruixue R Xiao Yongmei Y Li Dan D Hu Hui H Li Xiaolu X Ge Ting T Yu Ronghua R Wang Yizhong Y Zhang Ting T

Italian journal of pediatrics 20200429 1

<h4>Background</h4>Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder with variable clinical features and cancer predisposition. In this study, we aim to characterize the clinical features and molecular defects of BWS patients in China.<h4>Methods</h4>Thirty-one patients with clinical suspicion of BWS were retrospectively recruited to the study from Shanghai Children's Hospital between January 2014 and December 2017. Clinical data, including demographics, clinical features, and m ...[more]

PMID: 32349794

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