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South Asian Research Journal of Medical Sciences (SARJMS)
volume-8 | Issue-03
Case Report
A Case Report on Osteogenesis Imperfecta
Twinkle Khanna
Published : June 18, 2026
DOI : https://doi.org/10.36346/sarjms.2026.v08i03.008
Abstract
Background: Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder which is characterized by fragile bones and heterogeneous clinical presentation. There is mutation in genes of collagen Type I- COL1A1 and COL1A2 genes. Case Presentation: We report the case of a 16 year old male with a history of recurrent fractures since early infancy following the trivial trauma. The patient sustained multiple fractures involving long bones, associated with progressive deformities of the lower extremities. Notably, no etiological workup had been performed during childhood. There was no significant family history. On admission, physical examination revealed blue sclerae, dentinogenesis imperfecta, short stature, arachnodactyly, scoliosis and bowing deformity of bilateral lower limbs. Radiographic evaluation showed sequelae of previous fractures associated with bone deformities and cortical thinning. Based on the clinical presentation and radiological evaluation, a diagnosis of osteogenesis imperfecta was established. Conclusion: This case underscores the critical importance of early recognition of suggestive clinical features in children presenting with recurrent fractures. Improved clinician awareness may help reduce diagnostic delays, prevent complications, and enable timely genetic counselling and appropriate multidisciplinary management.

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