Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

Silver-Russell Syndrome is a rare imprinting disorder characterised by fetal and postnatal growth failure and body asymmetry. The spectrum of features is broad and it can be difficult to diagnose clinically. Furthermore, current genetic testing is only positive in about 50% of cases (the genetic basis for the remainder are currently unknown). We have evaluated the 4 different  scoring systems published against a clinical genetics cohort and identified 4 simple, objective measures (birthweight, height, head circumference and asymmetry) that would be useful in a non-specialist setting to help identify those patients to investigate with molecular genetic testing. (By Dr Renuka Dias, http://jmg.bmj.com/content/early/2013/06/27/jmedgenet-2013-101693 )