Etymed
osteogenesis imperfecta
Definition
A genetic disorder characterized by brittle bones that break easily due to defective collagen production
Clinical context
A 12-year-old girl presents with multiple fractures after minor falls or even birth trauma. She has blue sclerae and a history of easy bruising. X-rays show characteristic bone fragility. Genetic testing reveals mutations in COL1A1 gene. What is the most likely diagnosis? The patient's condition is caused by defective collagen synthesis leading to bone fragility.
Mnemonic
Osteo = bone, genesis = formation, imperfecta = flawed - brittle bones from flawed collagen production
These morphemes also unlock…
- oste/o — bone
- -genesis — origin; formation; production
- imperfecta — imperfect; incomplete