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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076074PMC
http://dx.doi.org/10.1055/s-0041-1739388DOI Listing

Publication Analysis

Top Keywords

growth disorders
8
silver-russell beckwith-wiedemann
8
beckwith-wiedemann syndromes
8
syndromes
5
case studies
4
studies classical
4
classical imprinting
4
imprinting growth
4
disorders silver-russell
4
genetic
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!