{"id":1685,"date":"2021-12-16T23:47:42","date_gmt":"2021-12-16T23:47:42","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1685"},"modified":"2026-02-23T01:08:40","modified_gmt":"2026-02-23T01:08:40","slug":"loeys-dietz-and-shprintzen-goldberg-syndromes-analysis-of-tgf-%ce%b2-opathies-with-craniofacial-manifestations-using-an-innovative-multi-modality-method","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/16\/loeys-dietz-and-shprintzen-goldberg-syndromes-analysis-of-tgf-%ce%b2-opathies-with-craniofacial-manifestations-using-an-innovative-multi-modality-method\/","title":{"rendered":"Loeys-Dietz and Shprintzen-Goldberg Syndromes: analysis of TGF-\u03b2-opathies with craniofacial manifestations using an innovative multi-modality method (Contributed by Dr. Konstantinia Almpani)"},"content":{"rendered":"<p>Loeys-Dietz and Shprintzen-Goldberg syndromes are caused by mutations along the TGF-beta signaling pathway.\u00a0 Some of the most striking features include craniofacial anomalies.\u00a0 Yet it is very difficult to find a common facial pattern that can be matched to the specific mutation.\u00a0 We used deep clinical examination methods and cutting-edge imaging technology, such as 3D photos and 3D facial CTs, to examine how these mutations effect facial development.\u00a0 We found that mutations in the <em>TGFBR2<\/em> and <em>SKI<\/em> genes caused the most severe facial changes due to changes of the cranial base that would explain the facial differences.\u00a0 Temporomandibular joint disorders and obstructive sleep apnea were more common than expected.\u00a0 These methods are extremely valuable in diagnosis and will help predict how genetic changes impact craniofacial development. (<a href=\"blank\">http:\/\/dx.doi.org\/10.1136\/jmedgenet-2021-107695<\/a>).<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/16\/loeys-dietz-and-shprintzen-goldberg-syndromes-analysis-of-tgf-%ce%b2-opathies-with-craniofacial-manifestations-using-an-innovative-multi-modality-method\/untitled-50\/\" rel=\"attachment wp-att-1686\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1686\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Untitled-300x256.png\" alt=\"\" width=\"300\" height=\"256\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Untitled-300x256.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Untitled-1024x875.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Untitled-768x656.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Untitled-640x547.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Untitled.png 1404w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Loeys-Dietz and Shprintzen-Goldberg syndromes are caused by mutations along the TGF-beta signaling pathway.\u00a0 Some of the most striking features include craniofacial anomalies.\u00a0 Yet it is very difficult to find a common facial pattern that can be matched to the specific mutation.\u00a0 We used deep clinical examination methods and cutting-edge imaging technology, such as 3D photos [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/16\/loeys-dietz-and-shprintzen-goldberg-syndromes-analysis-of-tgf-%ce%b2-opathies-with-craniofacial-manifestations-using-an-innovative-multi-modality-method\/\">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-1685","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>Loeys-Dietz and Shprintzen-Goldberg Syndromes: analysis of TGF-\u03b2-opathies with craniofacial manifestations using an innovative multi-modality method (Contributed by Dr. Konstantinia Almpani) - 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\" 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