Osteogenesis imperfecta: an unusual presentation

¹Department of Orthopaedics, Datta Meghe Institute of Medical Sciences (DU), Sawangi, Wardha, Maharashtra, India

^&Corresponding author
Hardik Patel, Department of Orthopaedics, Datta Meghe Institute of Medical Sciences (DU), Sawangi, Wardha, Maharashtra, India

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Osteogenesis imperfecta (OI), also known as brittle bone disease or "glass bone disease," is a genetic disorder that affects the production of collagen and causes bones to be fragile and easily fractured. It is a very rare condition, with varying degrees of severity, and is present from birth. Its estimated incidence is around 1 in 100,000 live births. Symptoms include: frequent bone fractures, often occurring with little or no apparent trauma. Weak bones may cause bone deformities, such as bowing of the long bones or curvature of the spine. Short stature, loose joints and hypermobility, brittle teeth, and risk of cavities. Blue or gray sclera (in severe cases), hearing loss (due to deformities of the bones in the ear). Diagnosis is based on clinical symptoms, family history, and a physical examination and genetic testing (identifying specific mutations in the genes). Treatment and management: treatment aims to manage symptoms, and improve quality of life including: i) fracture management; ii) physical therapy; iii) assistive devices: mobility aids, such as wheelchairs or braces: iv) medications: bisphosphonates to increase bone density. In severe cases, surgical interventions may be necessary to correct bone deformities or reinforce weakened bones. Here, we report a rare presentation of osteogenesis imperfecta. A 7-year-old male patient was brought to the orthopedics outpatient department with complaints of old malunited femur fracture and associated bony deformity, and unable to walk, and multiple bony fractures without a history of trauma. On examination, there were deformities present in the lower limb and an old malunited femur fracture left side.

Figure 1: (A, B) Xray suggestive of anterior bowing deformity of femur with old malunited femur fracture left side;(C,D) Xray suggestive of anterior bowing deformity of both tibia and fibula left side; (E,F,G) Xray suggestive of abnormal growths of tarsal bones present