{"id":8923,"date":"2017-05-15T15:15:14","date_gmt":"2017-05-15T13:15:14","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/wiedemann-rautenstrauch-syndrom-praezisierung-phaenotyp\/"},"modified":"2017-05-17T08:02:36","modified_gmt":"2017-05-17T06:02:36","slug":"wiedemann-rautenstrauch-syndrome-phenotype","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/","title":{"rendered":"Wiedemann-Rautenstrauch syndrome: Delineation of phenotype"},"content":{"rendered":"<p>Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder that is difficult to diagnose clinically. The main features of this very rare syndrome include growth retardation, lipodystrophy with localized fat masses, facial dysmorphism and dental anomalies. The patients who have so far been described, however, presented with a very variable phenotype.<\/p>\n<p>In a collaborative work, international researchers including Bernd Wollnik of the Institute of Human Genetics G\u00f6ttingen re-evaluated all 51 patients reported to date in the literature. To provide a clearer definition of the clinical characteristics of Wiedemann-Rautenstrauch syndrome, they took the originally described patients as a standard and reviewed all available clinical data of those patients whose diagnosis of WRS they considered as correct and added three further, unpublished patients.<\/p>\n<p>The results of this clinical study have been published in the <em>American Journal of Medical Genetics Part A<\/em>:<\/p>\n<p><strong>Wiedemann\u2013Rautenstrauch syndrome: A phenotype analysis<\/strong><br \/>\nPaolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC<br \/>\n<em>Am J Med Genet Part A<\/em> 2017; Apr 26. doi: 10.1002\/ajmg.a.38246. [Epub ahead of print]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28447407&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button]\n","protected":false},"excerpt":{"rendered":"<p>Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder that is difficult to diagnose clinically. The main features of this very rare syndrome include growth retardation, lipodystrophy with localized fat masses, facial dysmorphism and dental anomalies. The patients who have so far been described, however, presented with a very variable phenotype. In a collaborative work, international [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[51,52],"tags":[],"class_list":["post-8923","post","type-post","status-publish","format-standard","hentry","category-news","category-research"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Wiedemann-Rautenstrauch syndrome: Delineation of phenotype - Institut f\u00fcr Humangenetik<\/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:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Wiedemann-Rautenstrauch syndrome: Delineation of phenotype - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder that is difficult to diagnose clinically. The main features of this very rare syndrome include growth retardation, lipodystrophy with localized fat masses, facial dysmorphism and dental anomalies. The patients who have so far been described, however, presented with a very variable phenotype. In a collaborative work, international [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2017-05-15T13:15:14+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2017-05-17T06:02:36+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\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:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Wiedemann-Rautenstrauch syndrome: Delineation of phenotype\",\"datePublished\":\"2017-05-15T13:15:14+00:00\",\"dateModified\":\"2017-05-17T06:02:36+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/\"},\"wordCount\":213,\"commentCount\":0,\"articleSection\":[\"News\",\"Research\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/\",\"name\":\"Wiedemann-Rautenstrauch syndrome: Delineation of phenotype - Institut f\u00fcr Humangenetik\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#website\"},\"datePublished\":\"2017-05-15T13:15:14+00:00\",\"dateModified\":\"2017-05-17T06:02:36+00:00\",\"author\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"breadcrumb\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/www.humangenetik-umg.de\/en\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Wiedemann-Rautenstrauch syndrome: Delineation of phenotype\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#website\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/\",\"name\":\"Institut f\u00fcr Humangenetik\",\"description\":\"Institut f\u00fcr Humangenetik der Universit\u00e4tsmedizin G\u00f6ttingen\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/www.humangenetik-umg.de\/en\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\",\"name\":\"KB\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g\",\"caption\":\"KB\"},\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/author\/boss\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Wiedemann-Rautenstrauch syndrome: Delineation of phenotype - Institut f\u00fcr Humangenetik","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.humangenetik-umg.de\/en\/wiedemann-rautenstrauch-syndrome-phenotype\/","og_locale":"en_US","og_type":"article","og_title":"Wiedemann-Rautenstrauch syndrome: Delineation of phenotype - Institut f\u00fcr Humangenetik","og_description":"Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder that is difficult to diagnose clinically. 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