{"id":562,"date":"2013-06-29T03:03:38","date_gmt":"2013-06-29T03:03:38","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=562"},"modified":"2026-02-25T20:05:53","modified_gmt":"2026-02-25T20:05:53","slug":"comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/06\/29\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\/","title":{"rendered":"Comparison of the clinical scoring systems in Silver\u2013Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing (Contributed by Dr Renuka Dias)"},"content":{"rendered":"<p>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\u00a0 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. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/06\/27\/jmedgenet-2013-101693\">http:\/\/jmg.bmj.com\/content\/early\/2013\/06\/27\/jmedgenet-2013-101693<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>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 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/06\/29\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-562","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Comparison of the clinical scoring systems in Silver\u2013Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing (Contributed by Dr Renuka Dias) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/06\/29\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Comparison of the clinical scoring systems in Silver\u2013Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing (Contributed by Dr Renuka Dias) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/06\/29\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-06-29T03:03:38+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:05:53+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/29\\\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/29\\\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Comparison of the clinical scoring systems in Silver\u2013Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing (Contributed by Dr Renuka Dias)\",\"datePublished\":\"2013-06-29T03:03:38+00:00\",\"dateModified\":\"2026-02-25T20:05:53+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/29\\\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/29\\\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/29\\\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/29\\\/comparison-of-the-clinical-scoring-systems-in-silver-russell-syndrome-and-development-of-modified-diagnostic-criteria-to-guide-molecular-genetic-testing\\\/\",\"name\":\"Comparison of the clinical scoring systems in Silver\u2013Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing (Contributed by Dr Renuka Dias) - 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