Musculoskeletal CT Appearances

Osteogenesis Imperfecta CT Findings

• Decreased bone mineral density
• Bone deformity or deformities
• Multiple fractures common
• Wormian bones with a “mosaic” appearance
• Long bones may have “bamboo cane” appearance
• Limbs may be short and curved

Types of Osteogenesis Imperfecta

• Type I: Mild. Patient may have minor deformities and fractures subside after adolescence.
• Type II: Extremely Severe. Patient will present with skeletal deformities at birth, if not before. High incidence of stillborn infants or mortality within the first few weeks of life.
• Type III: Severe. Patient will present with skeletal deformities at birth, if not before. Patients usually are not stillborn and live past infancy.
• Type IV: Moderate. Patient will have fractures more commonly than in Type I but they will also subside after adolescence.

Other Information About Osteogenesis Imperfecta

Etiology:

• Passed genetically
• Can also be caused by genetic mutation

Epidemiology:

• Diagnosed at birth or in infancy

Presentation:

• Soft bones that fracture easily
• Skeletal deformities such as bowed long bones, curved spine, misshapen ribs, etc
• Hearing loss

Prognosis:

• There is no treatment for OI but it can be managed