Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. Osteogenesis imperfecta case presentation medicine. In 1835, lobstein coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition. The term osteogenesis imperfecta means imperfect bone formation.
Osteogenesis imperfecta oi is a heterogeneous group of heritable disorders affecting bone and connective tissue. Discover everything scribd has to offer, including books and audiobooks from major publishers. It is caused mainly by mutations in the genes that code for. Osteogenesis imperfecta health sciences wellness scribd. Osteogenesis imperfecta case presentation free download as powerpoint.
Zacharias on nursing diagnosis for osteogenesis imperfecta. Osteogenesis imperfecta oi is a genetic disorder of the connective tissue matrix caused by abnormal collagen microfibril assembly. People with this condition have bones that break fracture easily, often from mild trauma or with no apparent cause. Nursing diagnosis for osteogenesis imperfecta what does. Osteogenesis imperfecta stock pictures, royaltyfree. Pathophysiology and therapeutic options in osteogenesis imperfecta. Osteogenesis imperfecta brittle bone disease types niams. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. I have chosen this particular case study as in my practice as an. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Osteogenesis imperfecta oi is a disease that causes your bones to break easily. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. For example, a person may have just a few or as many as several hundred fractures in a lifetime. A congenital condition that results in extremely fragile bones, due to a defect in a gene that produces collagen, an important building block of bones.
Osteogenesis imperfecta ppt free download as powerpoint presentation. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. The national institutes of health osteoporosis and related bone diseases national resource center acknowledges the assistance of the osteogenesis imperfecta foundation in the. Types of osteogenesis imperfecta oi brittle bone disease. Osteogenesis imperfecta is the most common form of inherited bone fragility disorder, with an estimated prevalence of between 1 in 25,000 and 30,000 cases in the united states martin and shapiro. Osteogenesis imperfecta overview nih osteoporosis and. Arthrochalasis edstype7 osteogenesis imperfecta collaginopathies. Osteogenesis imperfecta genetics home reference nih. Osteogenesis imperfecta oi is the most common hereditary bone disorder with an incidence of one in 10,00025,000 births. However, it is a systemic disorder, as evidenced by the occurrence of ocular complications, dentinogenesis imperfecta, hearing loss, joint laxity, restrictive pulmonary disease, and short stature. Osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. While the many skeletal, auditory, dental and other anomalies in osteogenesis imperfecta oi have been well documented in the medical literature, the eye and the. Download premium images you cant get anywhere else. It is most notably characterized by bone fragility, decreased bone mass and recurrent fractures that can lead to skeletal deformities.
Doctor answers on symptoms, diagnosis, treatment, and more. Pathophysiology and therapeutic options in osteogenesis. Major characteristics of oi are bone fragility, blue sclerae, dentinogenesis imperfecta, short stature, scoliosis, and joint hyperextensibility. Osteogenesis imperfecta power point free download as.
Several clinical subtypes of oi have been described based on. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Osteogenesis imperfecta ppt health sciences wellness scribd. Find highquality osteogenesis imperfecta stock photos and editorial news pictures from getty images. Osteogenesis imperfecta power point scoliosis bone scribd. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones.
Symptoms may be mild or severe, depending on the type of oi you have. Please use one of the following formats to cite this article in your essay, paper or report. Osteogenesis imperfecta oi may be caused by changes mutations in any. Learn vocabulary, terms, and more with flashcards, games, and other study tools.
Download as pptx, pdf, txt or read online from scribd. Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. The earliest known case of osteogenesis imperfecta oi is in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london. All forms of osteogenesis imperfecta include fragile bones and frequent bone fracture.
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