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Article

Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation.

BMJ case reports - 30 Mar 2018

Pandita Aakash, Gupta Shikha, Gupta Girish, Panghal Astha

Abstract excerpt

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...

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Identifiers

PMID: 29602885
DOI: 10.1136/bcr-2017-222419
PMCID: PMC5884267

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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