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J Pediatr Genet
DOI: 10.1055/s-0041-1739388
Case-Based Review

Case Studies of Two Classical Imprinting Growth Disorders: Silver–Russell and Beckwith–Wiedemann Syndromes

Parminder Kaur
1   Department of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Chakshu Chaudhry
1   Department of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Anupriya Kaur 
1   Department of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Inusha Panigrahi
1   Department of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Priyanka Srivastava
1   Department of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
› Author Affiliations Funding None.
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Abstract

The genetic influences on human growth are being increasingly deciphered. Silver–Russell and Beckwith–Wiedemann syndromes (SRS; BWS) are two relatively common genetic syndromes with under- and overgrowth-related issues being the reason for referral. Aberration in genomic imprinting is the underlying genetic pathomechanism behind these syndromes. Herein, we described a series of children with these two growth disorders and give an orientation to the reader of the concept of imprinting as well as the genetic testing strategy and counseling to be offered in these syndromes.

Keywords

epigenetics - genomic imprinting - methylation testing - Silver–Russell syndrome - Beckwith–Wiedemann syndrome

Supplementary Material



Publication History

Received: 12 April 2021

Accepted: 01 October 2021

Article published online:
16 November 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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