13 Chapter 1 Diagnosis The diagnosis of OI can be made on the basis of clinical and radiographic findings 8. Fractures after mild trauma, bowing deformities of long bones, and growth deficiency are hallmark features. Specific skeletal features may include macrocephaly, flat midface and triangular facies, dentinogenesis imperfecta, chest wall deformities and scoliosis or kyphosis. Typical extra-skeletal features are blue sclerae, hearing loss and hypermobility (Table 2). Radiographic examination may reveal osteopenia, long-bone bowing and shortening, and vertebral fractures. The diagnosis of OI type 2 and the diagnosis of OI type 3 can be made prenatally based on ultrasound examination of the foetus because fractures typically occur prenatally in these types. The diagnoses of OI type 1, 4 and 5 are made postnatally on the basis of the clinical features and abnormalities on imaging examination 17. The most common differential diagnostic consideration is nonaccidental injury, frequently in cases of suspected OI type 1 or 4 18–20. The diagnosis can be confirmed through molecular DNA diagnostics. Treatment and management No successful cure is available for OI at this moment. Although novel approaches of gene therapy are being developed 45, treatment currently focuses on management of symptoms and preferentially takes place within a multidisciplinary team. Because symptoms can be diverse, treatment also has different angles. The most obvious treatment is orthopaedic treatment of fractures and deformities. In addition, pharmacological treatment of low bone density using antiresorptive drugs (bisphosphonates, denosumab) or anabolic drugs (teriparatide, antisclerostin antibodies) in combination with calcium and vitamin D suppletion can reduce fracture incidence and improve bone density. However, medical treatment does not address the defective collagen type 1, which leads not only to reduced bone quantity, but also to abnormal bone matrix and bone. Rehabilitation intervention (physiotherapy, occupational therapy, rehabilitation) is crucial to reduce fracture incidence and, more importantly, reduce the loss of function and improve quality of life. It is challenging for patients with brittle bones, weak muscles, and a cycle of frequent fractures followed by immobilization to maintain gross motor skills such as walking and to function independently 46. Most patients with OI can make independent transfers, have enough skills to live independently, are well educated and participate in social life. Because of additional complaints of hearing loss, diminished lung function due to scoliosis and rib cage deformities, cardiac manifestations of OI and dentinogenesis imperfecta, the ear, nose, and throat specialist, pulmonologist, cardiologist and dentist or oral surgeon are also often involved. A periodic visit to a centre of expertise is recommended to ensure adequate surveillance 47.
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