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Osteogenesis imperfecta (OI)

Osteogenesis imperfecta (OI) is a group of inherited connective-tissue disorders characterized by increased bone fragility and recurrent fractures, most commonly due to abnormalities in type I collagen. Clinical features may include blue sclera, dentinogenesis imperfecta, hearing loss, short stature, and skeletal deformity. Severity varies widely from mild disease with few fractures to severe forms causing marked deformity and perinatal mortality.

Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder of connective tissue in which defective formation or processing of type I collagen leads to reduced bone strength and increased susceptibility to fractures. Most classical forms are caused by mutations involving COL1A1 or COL1A2, although several other genes may also be involved. Patients commonly present with recurrent fractures following minimal trauma, progressive bowing of long bones, short stature, and deformity. Extra-skeletal manifestations may include blue sclera, dentinogenesis imperfecta, hearing impairment, ligamentous laxity, and occasionally cardiovascular or respiratory complications. The condition shows a wide range of severity. Traditional classification includes several types, with Type I generally being the mildest, Type II often being lethal in the perinatal period, and Types III and IV producing varying degrees of deformity and functional impairment. Modern classifications also include additional genetic subtypes. Diagnosis is based on the clinical picture, family history, radiographic findings, and when required, genetic testing. Radiographs may demonstrate osteopenia, multiple fractures of different ages, deformity, and characteristic features such as Wormian bones in the skull. Management is multidisciplinary and aims to reduce fractures, maintain mobility, and minimize deformity. Treatment may include physiotherapy, fracture prevention, bisphosphonate therapy in selected patients, nutritional optimization, and orthopaedic surgery. Recurrent long-bone deformity may be treated with corrective osteotomy and intramedullary rodding, including telescopic rods in growing children. The overall goals are to maximize bone strength, preserve function, prevent progressive deformity, and improve quality of life while addressing associated dental, hearing, and systemic problems.

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Slipped Capital Femoral Epiphysis (SCFE) is an adolescent hip disorder in which the femoral neck displaces anterosuperiorly relative to the capital femoral epiphysis through the proximal femoral physis. It commonly occurs during the growth spurt, especially in overweight adolescents, and may present with hip, groin, thigh, or referred knee pain with a limp. Early diagnosis and stabilization are important to prevent further slip and complications such as avascular necrosis and femoroacetabular impingement.

Musculoskeletal tuberculosis

Musculoskeletal tuberculosis is a form of extrapulmonary tuberculosis caused by Mycobacterium tuberculosis involving the bones, joints, spine, and surrounding soft tissues. The spine is the most common site, followed by large weight-bearing joints such as the hip and knee. It usually presents with chronic pain, swelling, stiffness, constitutional symptoms, and progressive deformity, and treatment is based primarily on anti-tubercular therapy, with surgery reserved for selected complications.

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Osteomyelitis

Osteomyelitis is an infection of bone caused most commonly by bacteria, particularly Staphylococcus aureus. Acute osteomyelitis usually presents with pain, fever, local tenderness, swelling, and raised inflammatory markers, while chronic osteomyelitis is characterized by persistent or recurrent infection with features such as sequestrum, involucrum, cloaca, and discharging sinus. Treatment combines appropriate antibiotics with surgical drainage or debridement when necessary.

Patellar instability

Patellar instability refers to recurrent or persistent tendency of the patella to subluxate or dislocate from the trochlear groove, most commonly in the lateral direction. It is usually related to a combination of traumatic injury and anatomical risk factors such as trochlear dysplasia, patella alta, increased TT–TG distance, and abnormal limb alignment. Patients typically present with anterior knee pain, apprehension, recurrent giving way, or episodes of patellar dislocation.

Osteogenesis imperfecta (OI)

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Osteogenesis imperfecta (OI)

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