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Metaphyseal dysplasia, or Pyle disease, [3] is a disorder of the bones. It is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures .
Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). [1] JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide.
Ghosal hematodiaphyseal dysplasia, is a rare, autosomal recessive disease, characterized by diaphyseal dysplasia and metaphyseal dysplasia of the long bones and refractory anemia. [ 2 ] [ 3 ] [ 1 ] It is associated with a deficiency of Thromboxane-A synthase , [ 4 ] which produces Thromboxane A2 .
Metaphyseal tumors or lesions include osteosarcoma, chondrosarcoma, fibrosarcoma, osteoblastoma, enchondroma, fibrous dysplasia, simple bone cyst, aneurysmal bone cyst, non-ossifying fibroma, and osteoid osteoma. [5] One of the clinical signs of rickets that doctors look for is cupping and fraying at the metaphyses when seen on X-ray.
The genetics of Conradi–Hünermann syndrome have perplexed medical geneticists, pediatricians and dermatologists for some time, but a number of perplexing features of the genetics of the syndrome have now been resolved, including the fact that the disease is caused by mutations in a gene, and these mutations are simple substitutions ...
Medical genetics Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign cartilaginous tumors ( enchondromas ) develop near the growth plate cartilage. This is caused by cartilage rests that grow and reside within the metaphysis or diaphysis and eventually mineralize over time to form multiple enchondromas. [ 1 ]
Medical genetics 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 ...
Medical genetics Osteosclerosis is a disorder characterized by abnormal hardening of bone and an elevation in bone density. It may predominantly affect the medullary portion and/or cortex of bone.