- Etiology: disturbance of Type-1 collagen production, affects connective tissue and bones which affects bone quality and quantity leading to fragile bones which fracture easily
- Imaging: multiple fractures, basilar invagination, Wormian bones, kyphoscoliosis, vertebral compression fractures, codfish vertebrae, platyspondyly
- DDX: child abuse
- Clinical: blue sclera, dental fragility, hearing loss
- Type I:
— Etiology: normal but decreased amount of collagen
— Imaging: multiple fractures in childhood through puberty which decreases in adulthood, scoliosis
— Clinical: blue sclera, normal teeth, normal / near-normal hearing, thin easily bruised skin, moderate joint hypermobility - 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

Radiology Cases of Osteogenesis Imperfecta Type II Perinatal Lethal


Radiology Cases of Osteogenesis Imperfecta Type III Progressive Deforming

