Osteogenesis Imperfecta Features — MFDS Part 1 MCQ
Instant feedback + full explanation. One question, done properly.
Educational content. Not a substitute for clinical judgement or local policy.
Reveal the answer and explanation
Correct answer: E — Osteogenesis imperfecta
Osteogenesis imperfecta is the inherited disorder classically associated with bone fragility, blue sclerae and dentinogenesis imperfecta. Most cases result from pathogenic variants affecting COL1A1 or COL1A2 and therefore type I collagen, although other genetic causes exist. Dentinogenesis imperfecta may produce discoloured, translucent teeth that are susceptible to wear and fracture. Ehlers-Danlos syndrome primarily causes joint hypermobility and tissue fragility, while Marfan syndrome is characterised by skeletal, ocular and cardiovascular abnormalities. Cleidocranial dysplasia commonly causes clavicular and cranial abnormalities with delayed eruption and supernumerary teeth, rather than dentinogenesis imperfecta. Down syndrome is not associated with this characteristic triad.
Reference: NHS England Genomics Education Programme, GeNotes Knowledge Hub: Osteogenesis imperfecta, Clinical features and Genomics sections, reviewed 2025. https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/osteogenesis-imperfecta/