Basic overview of osteogenesis imperfecta Essay on health and social care
Introduction. Osteogenesis imperfecta OI describes a series of genetic skeletal dysplasias that are heterogeneous and phenotypically diverse. 1. The primary clinical manifestations are recurrent fractures with low trauma and low bone mass. Individuals with OI may also have variable short stature, limb deformities, scoliosis, and extraskeleton. OI, or "brittle bone disease," is a condition that causes fragile bones that break easily. Purpose Here we discuss issues related to the transition from pediatric to adult-oriented health care for individuals with osteogenesis imperfecta OI. Recent Findings The clinical consequences of OI change across the lifespan. The number of fractures is lower in adults than in children with OI, while this is usually the case with other manifestations. Osteogenesis imperfecta OI is an inherited skeletal disorder that, as the name suggests, is caused by defective bone formation. 1: The defect is caused by dominant or recessive mutations that lead to bone fragility and other skeletal manifestations, such as short stature and bone deformities. Extraskeletal Tissues and Osteogenesis imperfecta means 'imperfect bone formation' and is commonly known as 'brittle bone disease' or OI. It is a rare genetic disorder that affects the protein collagen, which is found in bones, teeth, skin, tendons and parts of the eye. Osteogenesis imperfecta is the result of a mutation in one of the two genes that contain instructions for making collagen. Mutations in the COL1A COL1A, which encodes the α α, are responsible for gt 90 of all cases. Depending on the type, the inheritance of the condition may include: Introduction. Osteogenesis imperfecta, also known as brittle bone disease, is a phenotypically and genetically heterogeneous group of hereditary bone. Although the primary. Osteogenesis Imperfecta is a rare, hereditary bone disorder with an incidence of 15,000-20,000. Symptoms include bone fragility, long bone deformity, scoliosis, hypermobility, in addition to secondary features such as short stature, basilar intussusception, pulmonary and cardiac complications, hearing loss, dentinogenesis. Fractures are the main feature in patients with osteogenesis imperfecta OI, also called 'brittle bone disease'. OI is a genetic disorder involving a disruption of the production and structure of collagen type I, one of the main components of bone tissue. This rare bone disease occurs in Introduction. Osteogenesis imperfecta OI is a disease characterized by brittleness of the bones, with a spectrum of disease in childhood ranging from those with so-called 'mild' disease where there may be no clear or unambiguous clinical features of the disease, to severe diseases with obvious manifestations, including multiple fractures and Osteogenesis imperfecta OI is a disease that includes a group of conditions mainly characterized by bone fragility and is the most common form of hereditary bone fragility. There is a broad spectrum of clinical severity in OI, ranging from multiple fractures in utero and perinatal lethality to near normal adult stature and low fractures. Osteogenesis imperfecta OI is a heterogeneous hereditary connective tissue disorder characterized by low bone density. The type and severity of OI are variable. The main manifestations are fractures, bone deformity and bone pain, resulting in reduced mobility and function to perform daily tasks. OI affects not only the physical, but also the physical. Osteogenesis imperfecta OI is a disease that includes a group of conditions that mainly.,