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Jansen's metaphyseal chondrodysplasia is inherited in an autosomal dominant manner. Jansen's metaphyseal chondrodysplasia ( JMC ) is a disease that results from ligand -independent activation of the type 1 ( PTH1R ) of the parathyroid hormone receptor , due to one of three reported mutations (activating mutation).
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 .
Chondrodystrophy has an autosomal recessive pattern of inheritance.. Chondrodystrophy is an autosomal recessive disorder, meaning that in order for this disease to be expressed, the affected individual must possess two copies of the allele for the disorder.
An osteochondrodysplasia, [note 1] or skeletal dysplasia, is a disorder of the development of bone and cartilage. [1] ... the presence of metaphyseal broadening ...
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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.
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.
This is a shortened version of the fourteenth chapter of the ICD-9: Congenital Anomalies.It covers ICD codes 740 to 759.The full chapter can be found on pages 417 to 437 of Volume 1, which contains all (sub)categories of the ICD-9.