Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities.
Type I of OI is the most common, comprising 70% of all cases. Bruising will occur very easily in this type. The bone fragility is considered mild to moderate, and osteoporosis will be present. In this case it is likely that multiple fractures will have occurred before the age of 5.
Type II of OI accounts for approximately 10% of all cases. OI Type II is always lethal in the fetus. This is the most severe form of OI. The ribs will be thin, there will be limited cranial and facial bone ossification, and the limbs will be short.
Type III of OI makes up 15% of all cases. This is the next in severity after Type II, and the type most known to radiologists and orthopedic surgeons. Two-thirds of these cases will have fractures at birth. There will be severe bone fragility with multiple fractures and deformity that will be progressive. Children with this type seem to have severe dwarfism due to spinal compression fractures and disturbance in growth plates.
Type IV of OI is much rarer, comprising only 5% of cases. The bones may appear normal at the time of the first...
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... law enforcement and legal counsel will be involved. It may also be necessary to contact a child psychologist or other therapist to assist.
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Intra articular fractures of calcaneus occurs following eccentric loading of the talus on the calcaneus.(fig 5.1) The severity, type and location of fracture are determined by the position of the foot, the direction and magnitude of applied force and quality of bone 49.
Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities that influence the body's capacity to make solid bones. In predominant established OI, a man has too little sort I collagen or a low quality of sort I collagen because of a transformation in one of the sort I collagen qualities which makes the bones
Hemothorax. Retrieved from http://emedicine.medscape.com/article/2047916-overview#aw2aab6b2b4 Norvell, J. G. (2013, June 11). Tibia and Fibula Fracture Clinical Presentation. Retrieved from http://emedicine.medscape.com/article/826304-clinical Queensland Government.
Osteogenesis Imperfecta (OI) is a disease that is commonly referred to as brittle bone disease. Children with OI tend to have more fragile bones than children who are not affected and are very susceptible to bone fractures. With the correct support and proper management, the patient and their family can live relatively normal and happy lives.
Osteoporosis is a condition, which advances with age, resulting in fragile, weak bones due to a decrease in bone mass. Externally osteoporotic bone is shaped like normal bone, however it’s internal appearance differs. Internally the bone becomes porous due to a loss in essential minerals, including phosphate and calcium. The minerals are loss more quickly than they can be replaced and in turn cause the bones to become less dense and weak. The bones become prone to fracture, due to their weakness. Therefore the awareness of the disease tends to occur after a fracture has been sustained. The bones most commonly affected are the ribs, wrist, pelvis and the vertebrae.
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Osteoporosis is a disease in which the bones become so weak and brittle that even a cough can cause enough stress on the bone that it will cause the bone to facture. The most commonly broken bones are the hip, wrist, and the spine. Although it affects men and women of all races, post-menopausal Caucasian and Asian women are more commonly affected than those of other ethnicities and sexes. In fact, thirty percent of all post-menopausal women in the US and Europe will be diagnosed with Osteoporosis and at least 40 percent of those will suffer from a fracture in their lifetime.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
Abstract: Osteoporosis is a bone disorder that occurs in people with poor bone density. This disorder can cause secondary illnesses such a fragility fractures. There are many risk factors that can cause osteoporosis, and there are preventative measures that can be used in prolonging a person’s chances of developing osteoporosis in later adulthood life. Diagnosis is easily achievable.
The skeleton helps to support, move and protect the human body and its health is necessary for normal functioning. Because of the skeleton’s importance, diseases of the skeletal system can be debilitating. For example, a group of genetic disorders called osteogenesis imperfecta affects about 50 000 people in the United States alone Ref. The body of a person with osteogenesis imperfecta (OI), or ‘brittle bone disease’ cannot properly form bones due to a mutation preventing them from producing a healthy amount of collagen, causing bones to fracture easily. This paper provides an overview of osteogenesis imperfecta’s symptoms, genetic causes, diagnosis, and its development. treatment and effect on a patient’s life.
Orthopedic surgeons are responsible for mending and operating on the musculoskeletal system. “Orthopedics is a medical specialty that focuses on the diagnosis, care, and treatment of patients with disorders of the bones, joints, muscles, ligaments, tendons, nerves, and skin” (Career in Orthopaedics). Depending on the damage the patient has sustained determines how the orthopedic surgeon is able to correct the patient’s injury. In many cases there are multiple ways of correcting the patient’s injury such as; using medical, physical, and rehabilitative techniques to using complex surgical methods. “Typically, as much as 50 percent of the orthopedic surgeon’s practice is devoted to no surgical or medical management of injuries or disease and 50 percent to surgical management” (Career in Orthopaedics). The majority of surgeons, including orthopedic surgeons, prefer to choose the least invasive procedures such as; arthroscopy which is a technological advancement allowing orthopedic surgeons to use special cameras in order to diagnose and treat a joint with minimal cutting and trauma to...
Congenital defects also may have genetic bases, as in families who have extra fingers or toes or in the disease osteogenesis imperfecta, in which children have such brittle bones that many are fractured. Disorders of growth and development include several kinds of dwarfism and gigantism. Bones or limbs may develop deformity as the result of known causes, such as the infection poliomyelitis, or unknown or variable causes, such as curvature of the spine (SCOLIOSIS) or CLUBFOOT. Infections Infections of bone, called osteomyelitis, are usually caused by pus-producing bacteria, especially Staphylococcus and Streptococcus.
Intertrochanteric fractures disable further the already incapacitated elderly patients. Intertrochanteric fractures increases the morbitity and mortality chances in elderly patients because of lack of mobility.(1,2) Intertrochanteric fractures has become a more common problem in elderly patients because of increased life expectancy and osteoporosis.(3,4)
Iannelli, Vincent. The “Interview with a Pediatrician.” About.com. Pediatrics. September 30, 2012.