This 2008 JAAOS review covers the diagnosis and management of osteogenesis imperfecta (OI), a heritable type I collagen disorder. It addresses classification systems, bisphosphonate therapy, intramedullary rod selection, scoliosis management, and emerging treatments including bone marrow transplantation.
When you see a child with recurrent fractures and blue sclerae, the diagnosis is OI until proven otherwise — but biochemical and genetic testing can be negative in up to 40% of clinically diagnosed cases, so a negative workup does not exclude OI.
Start bisphosphonates early, even before age 2. Pamidronate improves bone density 86%-227% in infants with severe OI, and early treatment reduces bone incurving enough to allow minimally invasive rod insertion later.
When planning IM rodding in a patient on pamidronate, build in a pamidronate-free window around the osteotomy. The drug delays osteotomy healing (especially tibial osteotomy in patients over 6 years) but does not delay fracture healing.
For scoliosis in OI, never brace. Rib fragility makes bracing harmful. Refer for early spinal fusion when curves approach 50°. Waiting until >60° means vital capacity has already fallen to roughly 41% of expected, a threshold that may be irreversible.
This 2008 JAAOS review covers the diagnosis and management of osteogenesis imperfecta (OI), a heritable type I collagen disorder. It addresses classification systems, bisphosphonate therapy, intramedullary rod selection, scoliosis management, and emerging treatments including bone marrow transplantation.
When you see a child with recurrent fractures and blue sclerae, the diagnosis is OI until proven otherwise — but biochemical and genetic testing can be negative in up to 40% of clinically diagnosed cases, so a negative workup does not exclude OI.
Start bisphosphonates early, even before age 2. Pamidronate improves bone density 86%-227% in infants with severe OI, and early treatment reduces bone incurving enough to allow minimally invasive rod insertion later.
When planning IM rodding in a patient on pamidronate, build in a pamidronate-free window around the osteotomy. The drug delays osteotomy healing (especially tibial osteotomy in patients over 6 years) but does not delay fracture healing.
For scoliosis in OI, never brace. Rib fragility makes bracing harmful. Refer for early spinal fusion when curves approach 50°. Waiting until >60° means vital capacity has already fallen to roughly 41% of expected, a threshold that may be irreversible.