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  • Title: Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation.
    Author: Pandita A, Gupta S, Gupta G, Panghal A.
    Journal: BMJ Case Rep; 2018 Mar 30; 2018():. PubMed ID: 29602885.
    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.
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