中国循证儿科杂志2013，Vol.8Issue(1)：50-54,5.DOI:10.3969/j.issn.1673-5501.2013.01.011
Beckwith-Wiedemann综合征1例并文献复习
Beckwith-Wiedemann syndrome: one case report and literature review
摘要
Abstract
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 11 p15. 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.关键词
Beckwith-Wiedemann综合征/印迹基因/过度生长/DNA甲基化Key words
Beckwith-Wiedemann syndrome/ Genomic imprinting/ Growth disorders/ DNA methylation引用本文复制引用
谢新宝,许丹,刘仁超,董晨彬,安宇,俞蕙,张婷..Beckwith-Wiedemann综合征1例并文献复习[J].中国循证儿科杂志,2013,8(1):50-54,5.基金项目
上海市科委自然科学基金:12ZR1403500 （）
国家重点基础研究发展计划(973计划) （973计划）
2010CB529601 （）
