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OI type I — RACP Paediatrics MCQ

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ModerateGeneticsOI type IRACP Paediatrics

A newborn has multiple fractures (ribs, long bones) detected at birth with generalised osteopenia on skeletal survey. The infant has blue sclerae and a positive family history (the father has frequent fractures and hearing loss). What is the most likely diagnosis?

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Correct answer: D — Osteogenesis imperfecta type I

Multiple fractures with blue sclerae, osteopenia, and a positive family history of fractures and hearing loss is consistent with osteogenesis imperfecta (OI) type I (mildest form, autosomal dominant, COL1A1/COL1A2 mutations). OI type II (lethal perinatal form) presents with extreme fragility, severely deformed long bones, and is usually fatal. Type I has a much better prognosis.

Reference: RACP Paediatric Curriculum – Genetics; RCH Melbourne – 2023 – Skeletal Dysplasia CPG