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Hereditary Multiple Exostoses
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses ( exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas. Additional sites of occurrence include on flat bones such as the pelvic bone and scapula. The distribution and number of these exostoses show a wide diversity among affected individuals. Exostoses usually present during childhood. The vast majority of affected individuals become clinically manifest by the time they reach adolescence. A small percentage of affected individuals are at risk for development of malignant transformation namely sarcomas. The incidence of hereditary multiple exostoses is around 1 in 50,000 individuals. Hereditary multiple osteochondromas is the preferred term used by the World He ...
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Exostosis
An exostosis, also known as bone spur, is the formation of new bone on the surface of a bone. Exostoses can cause chronic pain ranging from mild to debilitatingly severe, depending on the shape, size, and location of the lesion. It is most commonly found in places like the ribs, where small bone growths form, but sometimes larger growths can grow on places like the ankles, knees, shoulders, elbows and hips. Very rarely are they on the skull. Exostoses are sometimes shaped like spurs, such as calcaneal spurs. Osteomyelitis, a bone infection, may leave the adjacent bone with exostosis formation. Charcot foot, the neuropathic breakdown of the feet seen primarily in diabetics, can also leave bone spurs that may then become symptomatic. They normally form on the bones of joints, and can grow upwards. For example, if an extra bone formed on the ankle, it might grow up to the shin. When used in the phrases "cartilaginous exostosis" or "osteocartilaginous exostosis", the term is consid ...
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Metaphysis
The metaphysis is the neck portion of a long bone between the epiphysis and the diaphysis. It contains the growth plate, the part of the bone that grows during childhood, and as it grows it ossifies near the diaphysis and the epiphyses. The metaphysis contains a diverse population of cells including mesenchymal stem cells, which give rise to bone and fat cells, as well as hematopoietic stem cells which give rise to a variety of blood cells as well as bone-destroying cells called osteoclasts. Thus the metaphysis contains a highly metabolic set of tissues including trabecular (spongy) bone, blood vessels , as well as Marrow Adipose Tissue (MAT). The metaphysis may be divided anatomically into three components based on tissue content: a cartilaginous component (epiphyseal plate), a bony component (metaphysis) and a fibrous component surrounding the periphery of the plate. The growth plate synchronizes chondrogenesis with osteogenesis or interstitial cartilage growth with both appos ...
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Proteoglycan Metabolism Disorders
Proteoglycans are proteins that are heavily glycosylated. The basic proteoglycan unit consists of a "core protein" with one or more covalently attached glycosaminoglycan (GAG) chain(s). The point of attachment is a serine (Ser) residue to which the glycosaminoglycan is joined through a tetrasaccharide bridge (e.g. chondroitin sulfate-GlcA- Gal-Gal- Xyl-PROTEIN). The Ser residue is generally in the sequence -Ser- Gly-X-Gly- (where X can be any amino acid residue but proline), although not every protein with this sequence has an attached glycosaminoglycan. The chains are long, linear carbohydrate polymers that are negatively charged under physiological conditions due to the occurrence of sulfate and uronic acid groups. Proteoglycans occur in connective tissue. Types Proteoglycans are categorized by their relative size (large and small) and the nature of their glycosaminoglycan chains. Types include: Certain members are considered members of the "small leucine-rich proteoglycan ...
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Ulna
The ulna (''pl''. ulnae or ulnas) is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. That is, the ulna is on the same side of the forearm as the little finger. It runs parallel to the radius, the other long bone in the forearm. The ulna is usually slightly longer than the radius, but the radius is thicker. Therefore, the radius is considered to be the larger of the two. Structure The ulna is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. It is broader close to the elbow, and narrows as it approaches the wrist. Close to the elbow, the ulna has a bony process, the olecranon process, a hook-like structure that fits into the olecranon fossa of the humerus. This prevents hyperextension and forms a hinge joint with the trochlea of the humerus. There is ...
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Radius (bone)
The radius or radial bone is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna. The ulna is usually slightly longer than the radius, but the radius is thicker. Therefore the radius is considered to be the larger of the two. It is a long bone, prism-shaped and slightly curved longitudinally. The radius is part of two joints: the elbow and the wrist. At the elbow, it joins with the capitulum of the humerus, and in a separate region, with the ulna at the radial notch. At the wrist, the radius forms a joint with the ulna bone. The corresponding bone in the lower leg is the fibula. Structure The long narrow medullary cavity is enclosed in a strong wall of compact bone. It is thickest along the interosseous border and thinnest at the extremities, same over the cup-shaped articular surface (fovea) of the head. The trabeculae of the spongy tissue are some ...
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Chondrosarcoma
Chondrosarcoma is a bone sarcoma, a primary cancer composed of cells derived from transformed cells that produce cartilage. A chondrosarcoma is a member of a category of tumors of bone and soft tissue known as sarcomas. About 30% of bone sarcomas are chondrosarcomas. It is resistant to chemotherapy and radiotherapy. Unlike other primary bone sarcomas that mainly affect children and adolescents, a chondrosarcoma can present at any age. It more often affects the axial skeleton than the appendicular skeleton. Types Symptoms and signs * Back or thigh pain * Sciatica * Bladder Symptoms * Unilateral edema Causes The cause is unknown. There may be a history of enchondroma or osteochondroma. A small minority of secondary chondrosarcomas occur in people with Maffucci syndrome and Ollier disease. It has been associated with faulty isocitrate dehydrogenase 1 and 2 enzymes, which are also associated with gliomas and leukemias. Diagnosis Imaging studies – including radiographs ("x-ray ...
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Madelung's Deformity
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral (in both wrists) or just in the one wrist. It has only been recognized within the past hundred years. Named after Otto Wilhelm Madelung (1846–1926), a German surgeon, who described it in detail, it was noted by others. Guillaume Dupuytren mentioned it in 1834, Auguste Nélaton in 1847, and Joseph-François Malgaigne in 1855. Signs and symptoms It is a congenital subluxation or dislocation of the ulna's distal end, due to malformation of the bones. Sometimes, minor abnormalities of other bone structures, often caused by disease or injury, such as a fracture of the distal end of the radius with upward displacement of the distal fragment. The deformity varies in degree from a slight protrusion of the lower end of the ulna, to complete dislocation of the inferior radio-ulnar joint with marked ulnar deviation of the hand. S ...
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Fibula
The fibula or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. Its upper extremity is small, placed toward the back of the head of the tibia, below the knee joint and excluded from the formation of this joint. Its lower extremity inclines a little forward, so as to be on a plane anterior to that of the upper end; it projects below the tibia and forms the lateral part of the ankle joint. Structure The bone has the following components: * Lateral malleolus * Interosseous membrane connecting the fibula to the tibia, forming a syndesmosis joint * The superior tibiofibular articulation is an arthrodial joint between the lateral condyle of the tibia and the head of the fibula. * The inferior tibiofibular articulation (tibiofibular syndesmosis) is formed by the rough, convex surface of the medial side of the lower end of the f ...
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Humerus
The humerus (; ) is a long bone in the arm that runs from the shoulder to the elbow. It connects the scapula and the two bones of the lower arm, the radius and ulna, and consists of three sections. The humeral upper extremity consists of a rounded head, a narrow neck, and two short processes (tubercles, sometimes called tuberosities). The body is cylindrical in its upper portion, and more prismatic below. The lower extremity consists of 2 epicondyles, 2 processes (trochlea & capitulum), and 3 fossae (radial fossa, coronoid fossa, and olecranon fossa). As well as its true anatomical neck, the constriction below the greater and lesser tubercles of the humerus is referred to as its surgical neck due to its tendency to fracture, thus often becoming the focus of surgeons. Etymology The word "humerus" is derived from la, humerus, umerus meaning upper arm, shoulder, and is linguistically related to Gothic ''ams'' shoulder and Greek ''ōmos''. Structure Upper extremity The upper or pr ...
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Tibia
The tibia (; ), also known as the shinbone or shankbone, is the larger, stronger, and anterior (frontal) of the two bones in the leg below the knee in vertebrates (the other being the fibula, behind and to the outside of the tibia); it connects the knee with the ankle. The tibia is found on the medial side of the leg next to the fibula and closer to the median plane. The tibia is connected to the fibula by the interosseous membrane of leg, forming a type of fibrous joint called a syndesmosis with very little movement. The tibia is named for the flute ''tibia''. It is the second largest bone in the human body, after the femur. The leg bones are the strongest long bones as they support the rest of the body. Structure In human anatomy, the tibia is the second largest bone next to the femur. As in other vertebrates the tibia is one of two bones in the lower leg, the other being the fibula, and is a component of the knee and ankle joints. The ossification or formation of the bone ...
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Femur
The femur (; ), or thigh bone, is the proximal bone of the hindlimb in tetrapod vertebrates. The head of the femur articulates with the acetabulum in the pelvic bone forming the hip joint, while the distal part of the femur articulates with the tibia (shinbone) and patella (kneecap), forming the knee joint. By most measures the two (left and right) femurs are the strongest bones of the body, and in humans, the largest and thickest. Structure The femur is the only bone in the upper leg. The two femurs converge medially toward the knees, where they articulate with the proximal ends of the tibiae. The angle of convergence of the femora is a major factor in determining the femoral-tibial angle. Human females have thicker pelvic bones, causing their femora to converge more than in males. In the condition ''genu valgum'' (knock knee) the femurs converge so much that the knees touch one another. The opposite extreme is ''genu varum'' (bow-leggedness). In the general populatio ...
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Anatomical Terms Of Location
Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position provides a definition of what is at the front ("anterior"), behind ("posterior") and so on. As part of defining and describing terms, the body is described through the use of anatomical planes and anatomical axes. The meaning of terms that are used can change depending on whether an organism is bipedal or quadrupedal. Additionally, for some animals such as invertebrates, some terms may not have any meaning at all; for example, an animal that is radially symmetrical will have no anterior surface, but can still have a description that a part is close to the middle ("proximal") or further from the middle ("distal"). International organisations have determined vocabularies that are often used as standard vocabularies for subdisciplines of anatom ...
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