Osteogenesis Imperfecta (OI) is a hereditary connective tissue disorder characterized by bone fragility. IFITM5 gene mutation has been found in all patients with OI type V (< 5% of all OI cases), but its etiologic mechanism remains unclear. OI-V clinical phenotype includes fracture susceptibility of variable severity, metaphyseal changes at birth, radial head dislocation, mineralized interosseous membranes, and hyperplasic callus. Short stature, blue sclerae, fractures at birth, and scoliosis may be rarely observed.
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Celis et al. (2024) studied this question.
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