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Symptoms that patients may experience when bone disorders form can include bone deformities, hip pain, overgrowing of bone in an individual's skull which can result in headaches and a loss of hearing, pain and numbness in arm or legs if the spine is affected and an overall weakness in the body particularly in the hip and knee joints.
Type II collagen disorders can result in mild disease or severe which can cause death within weeks of birth. Infants with the severe form of the disease would be born with clear indications of the disease, such as disproportionate short stature, skeletal dysplasia, distinctive eye abnormalities, cleft palate, and others.
The disease is not fatal; however, some associated complications can lead to death. Complications may include paralysis, dysphagia (difficulty swallowing), and lung infections. Although DISH manifests in a similar manner to ankylosing spondylitis, they are separate diseases. Ankylosing spondylitis is a genetic disease with identifiable marks ...
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
A test panel is a predetermined group of medical tests used in the diagnosis and treatment of disease.. Test panels (sometimes called profiles) are typically composed of individual laboratory tests which are related in some way: by the medical condition they are intended to help diagnose (cardiac risk panel), by the specimen type (complete blood count, CBC), by the tests most frequently ...
A bone scan or bone scintigraphy / s ɪ n ˈ t ɪ ɡ r ə f i / is a nuclear medicine imaging technique used to help diagnose and assess different bone diseases. These include cancer of the bone or metastasis, location of bone inflammation and fractures (that may not be visible in traditional X-ray images), and bone infection (osteomyelitis).
A skeletal survey (also called a bone survey [1]) is a series of X-rays of all the bones in the body, or at least the axial skeleton and the large cortical bones. A very common use is the diagnosis of multiple myeloma , where tumour deposits appear as "punched-out" lesions.
Phytohemagglutinin. CHH is an autosomal recessive [2] inherited disorder. It is a highly pleiotropic disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder.