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. (By Dr Nikhil Pattani, https://jmg.bmj.com/content/early/2025/04/18/jmg-2024-110369 )

X-rays showing the narrow thorax and femoral bowing in DYNC2H1-related short rib thoracic dysplasia