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

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

Publikationsverlauf

Eingereicht: 12. April 2021

Angenommen: 01. Oktober 2021

Artikel online veröffentlicht:
16. November 2021

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