Beckwith–Wiedemann syndrome (BWS) is an epigenetic overgrowth syndrome. Despite its distinctive growth pattern, the detailed growth trajectories of children with BWS remain largely unknown. We retrospectively analyzed 413 anthropometric measurements over an average of 4.4 years of follow-up in 51 children with BWS. We constructed sex-specific percentile curves for height, weight, and head circumference using a generalized additive model for location, scale, and shape. Males with BWS exhibited greater height at all ages evaluated, weight before the age of 10, and head circumference before the age of 9 than those of the general population. Females with BWS showed greater height before the age of 7, weight before the age of 4.5, and head circumference before the age of 7 than those of the general population. At the latest follow-up visit at a mean 8.4 years of age, bone age was significantly higher than chronological age. Compared to paternal uniparental disomy (pUPD), males with imprinting center region 2-loss of methylation (IC2-LOM) had higher standard deviation score (SDS) for height and weight, while females with IC2-LOM showed larger SDS for head circumference. These disease-specific growth charts can serve as valuable tools for clinical monitoring of children with BWS.

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为患有贝克威斯-维德曼综合征的韩国儿童制定疾病特异性生长图表

贝克威斯-维德曼综合征 (BWS) 是一种表观遗传过度生长综合征。尽管 BWS 儿童的生长模式独特，但其详细的生长轨迹仍然很大程度上未知。我们回顾性分析了 51 名 BWS 儿童的 413 项人体测量数据，平均随访时间为 4.4 年。我们使用位置、尺度和形状的广义加法模型构建了身高、体重和头围的性别特定百分位数曲线。与一般人群相比，患有 BWS 的男性在所有评估年龄、10 岁之前的体重和 9 岁之前的头围都表现出更高的身高。患有 BWS 的女性在 7 岁之前的身高、4.5 岁之前的体重以及 7 岁之前的头围均高于一般人群。最近一次随访时平均年龄为 8.4 岁，骨龄明显高于实际年龄。与父本单亲二体性（pUPD）相比，印记中心区2甲基化缺失（IC2-LOM）的男性在身高和体重方面具有更高的标准差得分（SDS），而具有IC2-LOM的女性在头围方面表现出更大的SDS。这些特定疾病的生长图表可以作为 BWS 儿童临床监测的宝贵工具。