Osteogenesis imperfecta
Type I collagen defect (mostly autosomal dominant, COL1A1/2)
Overview
"Brittle bone disease" — a collagen defect causing recurrent fractures with minimal trauma. A key NON-ACCIDENTAL-INJURY mimic: a child with multiple fractures plus supporting features (blue sclerae, family history) may have OI rather than abuse.
Recognise
- Recurrent fractures with little/no trauma; bony deformity
- BLUE sclerae; hearing loss; dentinogenesis imperfecta (grey/brittle teeth)
- Joint hypermobility; family history (autosomal dominant common)
Red flags
- Multiple fractures of differing ages → must consider BOTH OI and non-accidental injury, assessed carefully
Differentials & how to tell them apart
Investigations
X-rays (fractures, wormian skull bones, osteopenia); clinical features (blue sclerae, family history); genetic testing (COL1A1/COL1A2); safeguarding assessment as appropriate.
Management
Bisphosphonates (moderate/severe) + bone-health and MDT support
- 1Diagnose on features + imaging ± genetics; involve metabolic bone/orthopaedics; physiotherapy and bone-protective measures.Gate: Multiple fractures of different ages → you must weigh non-accidental injury AND osteogenesis imperfecta — do not assume either
- 2Bisphosphonates for recurrent fractures; fracture management; hearing/dental review.
Key points
Blue sclerae + recurrent low-trauma fractures + family history point to OI rather than abuse — but the two must be weighed together carefully, not assumed.
Monitor & prognosis
Fracture rate, growth, hearing, dental, mobility.
Varies by type from mild to perinatally lethal.
Source: StatPearls; NICE (child maltreatment differentials)