{"id":1420,"date":"2020-03-09T14:23:39","date_gmt":"2020-03-09T14:23:39","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1420"},"modified":"2026-02-24T00:15:37","modified_gmt":"2026-02-24T00:15:37","slug":"severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/09\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\/","title":{"rendered":"Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation (Contributed by Dr. Priyam Jani)"},"content":{"rendered":"<p>Rare diseases that have multisystemic involvements often feature oral and dental manifestations that are overlooked even though they may significantly affect patients\u2019 quality of life. In this study, we thoroughly characterized the oro-dental anomalies in Loeys-Dietz syndrome, a rare disorder affecting the cardiovascular system. The most frequent anomalies include abnormal palate, short mandible and tooth enamel defects. Moreover, we show that the severity of these defects correlates with the genetic mutation causing the disease. This work will serve as a diagnostic tool, help health care providers devise optimal treatment plans and thus benefit the patients suffering from this rare disease. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/03\/08\/jmedgenet-2019-106678\">https:\/\/jmg.bmj.com\/content\/early\/2020\/03\/08\/jmedgenet-2019-106678<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/09\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\/untitled-24\/\" rel=\"attachment wp-att-1421\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1421\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/03\/Untitled-300x164.jpg\" alt=\"\" width=\"300\" height=\"164\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/03\/Untitled-300x164.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/03\/Untitled-1024x561.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/03\/Untitled-768x421.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/03\/Untitled-1536x842.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/03\/Untitled-640x351.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/03\/Untitled.jpg 2009w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Rare diseases that have multisystemic involvements often feature oral and dental manifestations that are overlooked even though they may significantly affect patients\u2019 quality of life. In this study, we thoroughly characterized the oro-dental anomalies in Loeys-Dietz syndrome, a rare disorder affecting the cardiovascular system. The most frequent anomalies include abnormal palate, short mandible and tooth [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/09\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\/\">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-1420","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>Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation (Contributed by Dr. Priyam Jani) - 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\/2020\/03\/09\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation (Contributed by Dr. Priyam Jani) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Rare diseases that have multisystemic involvements often feature oral and dental manifestations that are overlooked even though they may significantly affect patients\u2019 quality of life. In this study, we thoroughly characterized the oro-dental anomalies in Loeys-Dietz syndrome, a rare disorder affecting the cardiovascular system. The most frequent anomalies include abnormal palate, short mandible and tooth [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/09\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-03-09T14:23:39+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:15:37+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/03\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2009\" \/>\n\t<meta property=\"og:image:height\" content=\"1101\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2020\\\/03\\\/09\\\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/09\\\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation (Contributed by Dr. Priyam Jani)\",\"datePublished\":\"2020-03-09T14:23:39+00:00\",\"dateModified\":\"2026-02-24T00:15:37+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/09\\\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\\\/\"},\"wordCount\":124,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/09\\\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/03\\\/Untitled-300x164.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/09\\\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/09\\\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/09\\\/severity-of-oro-dental-anomalies-in-loeys-dietz-syndrome-segregates-by-gene-mutation\\\/\",\"name\":\"Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation (Contributed by Dr. Priyam Jani) - 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