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Reminder of important clinical lesson
CASE REPORT
Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation
  1. Aakash Pandita,
  2. Shikha Gupta,
  3. Girish Gupta,
  4. Astha Panghal
  1. Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  1. Correspondence to Dr Aakash Pandita, aakash.pandita{at}gmail.com

Summary

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.

  • gastrointestinal system
  • genetic screening / counselling
  • neonatal intensive care

https://doi.org/10.1136/bcr-2017-222419

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    Footnotes

    • Contributors Aakash, SG, Astha wrote the manuscript. GG did the corrections. GG, Aakash did the final assessment and comilation. All authors before submission approved the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.