Osteogenesis Imperfecta

History: infant who died shortly after birth

Osteogenesis Imperfecta: full body x-ray of a neonate demonstrates multiple rib fractures, right femur fracture and right forearm fractures (yellow arrows), to name a few.

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a congenital bone disorder characterized by brittle bones that are prone to fracture. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen.

On imaging, the following characteristic findings can be seen:

• Presence of fractures distinguishes OI from other skeletal dysplasias
• Long bone shortening/angulation secondary to fractures
• Pseudarthrosis formation
• Callus formation
• Decreased mineralization
• Poorly mineralized skull

The differential diagnosis includes:

• Thanatophoric dysplasia
• Achondrogenesis
• Campomelic dysplasia
• Hypophosphatasia

There are multiple types of osteogenesis imperfeca, of which Type 2 is the most severe and uniformly lethal form.