{"id":2059,"date":"2025-04-22T01:40:47","date_gmt":"2025-04-22T01:40:47","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2059"},"modified":"2026-02-22T01:12:33","modified_gmt":"2026-02-22T01:12:33","slug":"phenotypic-heterogeneity-in-dync2h1-related-short-rib-thoracic-dysplasia-antenatal-indicators-and-postnatal-outcomes","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/04\/22\/phenotypic-heterogeneity-in-dync2h1-related-short-rib-thoracic-dysplasia-antenatal-indicators-and-postnatal-outcomes\/","title":{"rendered":"Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes (Contributed by Dr Nikhil Pattani)"},"content":{"rendered":"

DYNC2H1-related Short Rib Thoracic Dysplasia (SRTD) is a rare genetic, bone dysplasia characterised by narrow chest, short ribs, short long bones and extra fingers (polydactyly). Currently, there is limited information regarding correlations between the genetic fault, antenatal scan findings, and clinical presentation e.g., respiratory distress and prognosis. Our multi-centre study investigated nine patients with confirmed diagnoses, providing detailed analysis of antenatal\/postnatal imaging, genetic variants, and long-term outcomes. Presentation at an earlier gestation and significant femur shortening and bowing were predictive of poor postnatal prognosis. (https:\/\/jmg.bmj.com\/content\/early\/2025\/04\/18\/jmg-2024-110369<\/a> )<\/p>\n

\"\"<\/a><\/p>\n

X-rays showing the narrow thorax and femoral bowing in DYNC2H1-related short rib thoracic dysplasia<\/p>\n","protected":false},"excerpt":{"rendered":"

DYNC2H1-related Short Rib Thoracic Dysplasia (SRTD) is a rare genetic, bone dysplasia characterised by narrow chest, short ribs, short long bones and extra fingers (polydactyly). Currently, there is limited information regarding correlations between the genetic fault, antenatal scan findings, and clinical presentation e.g., respiratory distress and prognosis. Our multi-centre study investigated nine patients with confirmed […]<\/p>\n

Read More…<\/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-2059","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nPhenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes (Contributed by Dr Nikhil Pattani) - 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\/2025\/04\/22\/phenotypic-heterogeneity-in-dync2h1-related-short-rib-thoracic-dysplasia-antenatal-indicators-and-postnatal-outcomes\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes (Contributed by Dr Nikhil Pattani) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"DYNC2H1-related Short Rib Thoracic Dysplasia (SRTD) is a rare genetic, bone dysplasia characterised by narrow chest, short ribs, short long bones and extra fingers (polydactyly). 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