摘要Beckwith-Wiedemann综合征(Beckwith-Wiedemann syndrome，BWS)是由位于11号染色体15.5区域印迹基因簇表达异常相关的一种罕见疾病。临床表现以腹壁缺损、巨舌和巨大儿为主，部分患儿可见耳褶皱及切迹、内脏肥大、新生儿低血糖、面部火焰状红斑等表现，易罹患胚胎性肿瘤且以肾母细胞瘤最为常见。本文通过对最新文献的复习总结，对BWS的基因结构、诊断流程、基因型和表现型、产前诊断和治疗管理进行综述。

abstractsBeckwith-Wiedemann syndrome (BWS) is a rare disease associated with abnormal regulation of gene transcription in an imprinted domain at chromosome 11p15.5.Its major clinical manifestations are abdominal wall defect, macroglossia and macrosomia.Also there are ear pits, visceromegaly, neonatal hypoglycemia and facial nevus flammeus, etc.The patients are susceptible to embryonic tumors and Wilms tumor is the most common.This review summarized gene structure, diagnostic process, genotype, phenotype, prenatal diagnosis and management of BWS through reviewing the latest literature.