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Radiology · Musculoskeletal imaging: osteogenesis imperfecta
Sample itemAn infant has repeated fractures after minimal handling and blue sclerae. A skull radiograph shows multiple small ossicles within the sutures and generalised osteopenia with thin cortices. What is the most likely diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Osteogenesis imperfecta
Osteogenesis imperfecta is a collagen type I disorder with brittle bones, blue sclerae and wormian bones in the skull sutures. Blue sclerae and generalised osteopenia help separate it from non-accidental injury.
Option by option
A. Non-accidental injury
Non-accidental injury produces fractures of varying ages, such as corner fractures and posterior rib fractures, without blue sclerae or wormian bones.
B. Scurvy
Scurvy shows a white line of Frankel and a Wimberger ring, with subperiosteal haemorrhage.
C. Rickets
Rickets shows metaphyseal cupping and fraying with a widened growth plate.
D. Osteogenesis imperfecta (correct)
Correct. Fractures with minimal trauma, blue sclerae, osteopenia and wormian bones indicate osteogenesis imperfecta.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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