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    SubjectsPediatricsOsteogenesis Imperfecta (COL1A1)
    ClinicalPediatrics

    Osteogenesis Imperfecta (COL1A1)

    1 MCQs in Pediatrics for NEET PG

    1 Medium
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    Sample Questions

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    A 4-year-old boy with blue sclerae, dentinogenesis imperfecta, and recurrent low-impact fractures presents with his third long-bone fracture. His father, paternal uncle, and paternal grandmother are all affected with osteogenesis imperfecta of varying severity. The pedigree shows the pattern marked as **A** in the diagram—vertical transmission across three generations with affected males passing the condition to both sons and daughters. Which inheritance pattern and genetic basis best explains this family's presentation?

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