Osteogenesis Imperfecta Features — NDEB AFK MCQ
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Correct answer: B — Osteogenesis imperfecta
Osteogenesis imperfecta (OI, brittle bone disease) is caused by mutations in genes encoding type I collagen (COL1A1 or COL1A2), resulting in defective collagen synthesis. Classic features include: (1) bone fragility (fractures with minimal trauma); (2) blue sclerae (thin scleral collagen allowing choroidal pigment to show through); (3) dentinogenesis imperfecta (DI type I — opalescent teeth with obliterated pulps). Other features include progressive hearing loss, hypermobility of joints, and short stature. Dental management requires care to avoid jaw fractures during extraction.
Reference: Neville – Oral and Maxillofacial Pathology, 4th ed., 2016