伴有IC2（KvDMR1）低甲基化缺陷的贝克威思-维德曼综合征：一种新的突变。
Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation.
作者信息
Pandita Aakash, Gupta Shikha, Gupta Girish, Panghal Astha
机构信息
Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
出版信息
BMJ Case Rep. 2018 Mar 30;2018:bcr-2017-222419. doi: 10.1136/bcr-2017-222419.
Abstract
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.
摘要
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。
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