Spondylothoracic Dysostosis

  • Etiology: Genetic disorder
  • Imaging Radiograph:
    — Vertebral body anomalies throughout spine including butterfly vertebrae, hemivertebrae, fused vertebrae and hypoplastic vertebrae
    — Rib anomalies including rib fusion, rib misalignment, rib broadening, rib splitting, rib absence
  • DDX:
  • Complications: Small size of thorax leads to respiratory compromise and death in infancy
  • Treatment:
  • Clinical: Presents with short neck and short trunk and constricted thorax

Radiology Cases of Spondylothoracic Dysostosis

Radiograph of spondylothoracic dysostosis
AP and lateral radiographs of the spine show multiple vertebral body anomalies throughout the spine including butterfly vertebrae, hemivertebrae, fused vertebrae and hypoplastic vertebrae. There are also multiple levels of rib fusion present posteriorly.