中文摘要：

目的提高对Beckwith—Wiedemann综合征（BWS）的临床和基因特征的认识，并对BWS患儿的治疗和管理进行探讨。方法总结分析l例BWS患儿的临床表现、诊断、随访和基因检测结果，综合文献复习。结果女，5月龄。有典型巨舌，火焰状红斑，双耳折痕，腹壁缺陷，内脏增大，新生儿期暂时性低血糖等表现，伴有妊娠期羊水过多、早产、母亲习惯性流产史、妊娠期绒毛膜促性腺激素水平增高和先兆子痢等。应用甲基化特异性多重连接探针扩增技术（MS．MLPA）检测显示11p15．5区域印迹中心2区（IC2）KCNQl0T1甲基化位点丢失，确诊为BWS。于12月龄行舌减容整形术＋脐疝修补术，舌体明显缩小，脐部形状如正常儿童。随访13月龄已能发单音节音，17月龄已可发双音节音，血AFP正常，腹部CT未见肿瘤性病变。结论具有巨大出生体重、巨舌、新生儿期暂时性低血糖、腹壁缺陷的患儿应考虑BWS可能，通过MS—MLPA可明确BWS诊断。BWS患儿应长期规则随访，监测肿瘤的发生，并提供遗传咨询指导。

英文摘要：

Objective In China, Beckwith-Wiedemann syndrome （BWS）, a rare pediatric congenital overgrowth disorder, associated with abnormal regulation of gene transcription in an imprinted domain located at chromosome l lp15.5, is still poorly recognized. The purpose of this study was to investigate the clinical features, genetic abnormality, and clinical management of BWS. Methods Clinical manifestations, laboratory examinations and genetic testing of one case of BWS were presented, analyzed and discussed. The related literatures were reviewed. Results The case was female, aged 5 months, presenting typical BWS clinical features, including macroglossia, visceromegaly, ear pits, transient neonatal hypoglycemia, facial nevus flammeus, infraorbital creases, etc. A hypomethylation at IC2 of CDKNIC domain was identified and confirmed by MS-MLPA. Conclusions This case is the first report of BWS in China with epigenetic confirmation, and has typical maternal dysmethylation at ICs. The diagnosis of BWS relies on a combination of clinical features and gene-based tests. The BWS patients need to be long term followed- up.