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    SubjectsMedicineOsteogenesis Imperfecta Blue Sclerae
    ClinicalMedicine

    Osteogenesis Imperfecta Blue Sclerae

    1 MCQs in Medicine for NEET PG

    1 Medium
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    medium

    A 24-year-old woman with a lifelong history of recurrent fragility fractures, progressive hearing loss, dentinogenesis imperfecta, and joint hypermobility presents to the genetics clinic. On examination, the most striking finding is **diffuse blue-grey discoloration of both sclerae** (marked **A** in the diagram), with preserved corneal clarity and normal iris appearance. Genetic testing confirms a heterozygous COL1A1 mutation. The blue scleral discoloration in this patient is best explained by which of the following pathophysiological mechanisms?

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