Osteogenesis Imperfecta

  • Etiology: disturbance of Type-1 collagen production
  • Imaging: multiple fractures
  • DDX: child abuse
  • Clinical: bad teeth, blue sclera, deafness
  • Type I
  • Type II
  • — Imaging: multiple perinatal fractures, bending deformities in long bones
  • — Clinical: early demise < 1 year old, respiratory failure, intracranial hemorrhage
  • Type III

Radiology Cases of Osteogenesis Imperfecta

Radiology Cases of Osteogenesis Imperfecta Type I Mild

Radiograph of osteogenesis imperfecta Type I
AP radiograph of the lower extremities shows diffuse osteopenia of the bones which are also gracile and which have chronic healing fractures present.

Radiology Cases of Osteogenesis Imperfecta Type II Perinatal Lethal

CXR of osteogenesis imperfecta Type II
CXR AP (above) shows multiple bilateral acute rib fractures resulting in a very small thorax. AP radiograph of the lower extremities (below) shows multiple healing fractures of the bilateral femora, tibiae and fibulae resulting in them all having a bowed appearance.
Radiographs of osteogenesis imperfecta Type II
CXR AP (above) shows multiple bilateral chronic healing rib fractures resulting in a very small thorax and multiple healing fractures of the bilateral humeri, radii and ulnae resulting in them all having a bowed appearance. AP radiograph of the lower extremities (below) shows multiple healing fractures of the bilateral femora, tibiae and fibulae resulting in them all having a bowed appearance.

Radiology Cases of Osteogenesis Imperfecta Type III Progressive Deforming

Radiographs of osteogenesis imperfecta Type III
Lateral radiograph of the skull (upper left) shows multiple wormian bones in the coronal and lambdoid sutures. CXR AP (upper right) shows multiple bilateral healing rib fractures. AP radiographs of the upper (lower left) and lower (lower right) extremities show multiple bilateral healing fractures of the extremities causing bowing deformities of all of the extremities.
Radiographs of osteogenesis imperfecta Type III
AP and lateral radiographs of the skull (above) show multiple wormian bones in the coronal and lambdoid sutures. CXR AP (lower left) shows multiple bilateral acute rib fractures. AP radiograph of the lower extremities (lower right) shows multiple bilateral acute and chronic fractures of the bilateral femora and tibiae and fibulae causing bowing deformities of the lower extremities.