osteogenesis imperfecta
Pronunciation: OS-tee-oh-JEN-eh-sis im-per-FEK-tah
Genetic disorder affecting collagen production, resulting in brittle bones and increased fracture risk in children.
Full Definition
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by defective collagen synthesis, primarily affecting Type I collagen. Children with OI have bones that fracture easily, often with minimal trauma. The condition is classified into several types (I-VIII) with varying severity, from mild forms with normal stature to severe forms incompatible with life. Clinical features may include blue sclerae, hearing loss, dentinogenesis imperfecta, and short stature. Orthopedic management focuses on fracture prevention, treatment of deformities, and maximizing function and mobility.
Usage
Usage note: Often abbreviated as OI in clinical documentation. Always consider this diagnosis in children with recurrent fractures.
In Context
- "The patient's history of multiple low-energy fractures and blue sclerae suggested a diagnosis of osteogenesis imperfecta." — genetic consultation report
- "Bisphosphonate therapy has shown promise in reducing fracture rates in children with osteogenesis imperfecta." — treatment protocol document