Metabolic Bone Disease
A 4-year-old boy presents with his third femoral fracture in 2 years. He has blue sclerae, is of short stature, and has a history of multiple fractures from minimal trauma. His mother reports she also had many fractures as a child. Genetic testing confirms a COL1A1 mutation consistent with osteogenesis imperfecta type I. The family asks about treatment options to reduce fracture frequency. Regarding osteogenesis imperfecta (OI):
Mark each as TRUE or FALSE
Osteogenesis imperfecta is caused by mutations in genes encoding type I collagen (COL1A1, COL1A2) or...
Medical management: bisphosphonates (pamidronate IV or oral alendronate/risedronate) are the mainsta...
OI is caused by mutations in type II collagen genes; Type I is the most severe form; Type II is mild...
Surgical management: indications include recurrent fractures, progressive deformity, and functional ...
Multidisciplinary approach is essential: physiotherapy for strengthening and mobility, occupational ...
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Click T (True) or F (False) for each option