Osteogenesis imperfecta in the context of "Arteries"

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⭐ Core Definition: Osteogenesis imperfecta

Osteogenesis imperfecta (IPA: /ˌɒstiˈɛnəsɪs ˌɪmpɜːrˈfɛktə/; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth (dentinogenesis imperfecta). Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination.

The underlying mechanism is usually a problem with connective tissue due to a lack of, or poorly formed, type I collagen. In more than 90% of cases, OI occurs due to mutations in the COL1A1 or COL1A2 genes. These mutations may be hereditary in an autosomal dominant manner but may also occur spontaneously (de novo). There are four clinically defined types: type I, the least severe; type IV, moderately severe; type III, severe and progressively deforming; and type II, perinatally lethal. As of September 2021, 19 different genes are known to cause the 21 documented genetically defined types of OI, many of which are extremely rare and have only been documented in a few individuals. Diagnosis is often based on symptoms and may be confirmed by collagen biopsy or DNA sequencing.

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Osteogenesis imperfecta in the context of Compression fracture

A compression fracture is a collapse of a vertebra. It may be due to trauma or due to a weakening of the vertebra (compare with burst fracture). This weakening is seen in patients with osteoporosis or osteogenesis imperfecta, lytic lesions from metastatic or primary tumors, or infection. In healthy patients, it is most often seen in individuals suffering extreme vertical shocks, such as ejecting from an ejection seat. Seen in lateral views in plain x-ray films, compression fractures of the spine characteristically appear as wedge deformities, with greater loss of height anteriorly than posteriorly and intact pedicles in the anteroposterior view.

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Osteogenesis imperfecta in the context of Special education

Special education (also known as special-needs education, aided education, alternative provision, exceptional student education, special ed., SDC, and SPED) is the practice of educating students in a way that accommodates their individual differences, disabilities, and special needs. This involves the individually planned and systematically monitored arrangement of teaching procedures, adapted equipment and materials, and accessible settings. These interventions are designed to help individuals with special needs achieve a higher level of personal self-sufficiency and success in school and in their community, which may not be available if the student were only given access to a typical classroom education.

Special education aims to provide accommodated education for students with disabilities such as learning disabilities, learning difficulties (such as dyslexia), communication disorders, emotional and behavioral disorders, physical disabilities (such as osteogenesis imperfecta, down syndrome, lissencephaly, Sanfilippo syndrome, and muscular dystrophy), developmental disabilities (such as autism spectrum disorder, and intellectual disabilities) and other disabilities. Students with disabilities are likely to benefit from additional educational services such as different approaches to teaching, the use of technology, a specifically adapted teaching area, a resource room, or a separate classroom.

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Osteogenesis imperfecta in the context of Bone fracture

A bone fracture (abbreviated FRX or Fx, Fx, or #) is a medical condition in which there is a partial or complete break in the continuity of any bone in the body. In more severe cases, the bone may be broken into several fragments, known as a comminuted fracture. An open fracture (or compound fracture) is a bone fracture where the broken bone breaks through the skin.

A bone fracture may be the result of high force impact or stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture. Most bone fractures require urgent medical attention to prevent further injury.

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Osteogenesis imperfecta in the context of Self-contained classroom

Special education (special ed. or SPED), also known as special-needs education, aided education, alternative provision, exceptional student education, or special day class (SDC), is the practice of educating students in a way that accommodates their individual differences, disabilities, and special needs. This involves the individually planned and systematically monitored arrangement of teaching procedures, adapted equipment and materials, and accessible settings. These interventions are designed to help individuals with special needs achieve a higher level of personal self-sufficiency and success in school and in their community, which may not be available if the student were only given access to a typical classroom education.

Special education aims to provide accommodated education for students with disabilities such as learning disabilities, learning difficulties (such as dyslexia), communication disorders, emotional and behavioral disorders, physical disabilities (such as osteogenesis imperfecta, down syndrome, lissencephaly, Sanfilippo syndrome, and muscular dystrophy), developmental disabilities (such as autism spectrum disorder, and intellectual disabilities) and other disabilities. Students with disabilities are likely to benefit from additional educational services such as different approaches to teaching, the use of technology, a specifically adapted teaching area, a resource room, or a separate classroom.

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