Presentation
Multiple long bones fractures.
Patient Data
BOTH LOWER LIMBS XRAYS:
Generalized decreased bone density.
Bowing of both femora, tibial and fibular bones is seen, with multiple fractures of various ages.
The radiological findings are highly suggestive of osteogenesis imperfecta.
Case Discussion
This is a 7 year old boy presenting with multiple fractures of lower limbs. His primary physician reuqested x-rays of lower limbs which demonstrated osteoprosis, gracile, and deformed bones with multiple fractures of different ages, hyperplastic callus formation and pseudoarthrosis at sites of healing fractures findings that are compatible with osteogenesis imperfecta.
Four major features charecterize osteogenesis imperfecta. The hallmark feature is osteoporosis and fragile bones that fracture easily, and other clinical features include blue sclera, dental fragility (dentinogenesis imperfecta) and hearing impairment/loss are sufficient to make the diagnosis.
Further lab and clinical evaluation by his primary phisican was requested, which included hormonal evaluation (PTH,TSH), calcium, phosphorus, alkaline phosphatase, and vitamin D3 levels and confirmed diagnosis of osteogenesis imperfecta, excluding hypophosphatasia, osteomalacia and rickets.
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