A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
Some of you may know, The Magic Foundation's RSS/SGA R&E Fund, in conjunction with Dr Harbison and Dr Netchine, began an RSS phenotype-genotype study back in 2008. This study resulted in a new, statistically strong, RSS clinical scoring system (which we have been using in our free screenings). Effective TODAY, you can click on the link below and receive a free copy of our study article, which has been published in the Journal of Medical Genetics.
Our scoring system (now called the Netchine-Harbison RSS scoring system) can help aid physicians in determining which subjects should undergo RSS genetic testing versus molecular testing for other possible causes for the child’s growth failure and physical characteristics. One highlight about our study findings - our scoring system captured 100% of the children who would later test positive for 11p15LOM and all but one child who tested positive for matUPD7. The article also includes a screening input form and directions to assist local doctors. Thank you to so many of you for either participating in the study and/or making donations along the way enabling us to complete this ground-breaking study.