Pandita Aakash, Gupta Shikha, Gupta Girish, Panghal Astha
Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
BMJ Case Rep. 2018 Mar 30;2018:bcr-2017-222419. doi: 10.1136/bcr-2017-222419.
The Beckwith-Wiedemann syndrome (BWS) is a rare genetic syndrome. However, this is one of the most common overgrowth syndromes. This is a genetically and clinically heterogeneous syndrome. Here, we report a case of Beckwith-Weidemann syndrome without macrosomia, visceromegaly and hemihyperplasia but having macroglossia, omphalocele and anterior linear ear lobe creases. The diagnosis was confirmed by gene analysis suggestive of imprinting centre 2 (KvDMR1) hypomethylation defect.
贝克威思-维德曼综合征（BWS）是一种罕见的遗传综合征。然而，它是最常见的过度生长综合征之一。这是一种基因和临床均具有异质性的综合征。在此，我们报告一例贝克威思-维德曼综合征病例，该病例无巨大儿、内脏肿大和半身肥大，但有巨舌、脐膨出和耳垂前线性皱折。基因分析提示印记中心2（KvDMR1）低甲基化缺陷，从而确诊该病例。
