Abstract
We report a case of heterozygous mutation of c.-14C>T in the 5'-untranslated region of the interferon-induced transmembrane protein 5 in a nine-year-old girl. She was diagnosed with type-V osteogenesis imperfecta based on the classic features of bone fragility, radial head dislocation, forearm interosseous membrane calcification, limited forearm rotation, hyperplastic callus formation, and radiodense metaphyseal bands, as well as absent blue sclerae, absence of hearing loss, and absence of dentinogenesis imperfecta. Although the differential diagnosis may include infantile cortical hypertrophy, child abuse, or a malignant tumor (e.g., osteosarcoma), the presence of typical clinical and radiographic features and characteristic gene mutation helps confirm the diagnosis of type-V osteogenesis imperfecta.
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