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Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels.
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 .
Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. [1] The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis.
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This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.
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.
Pseudoachondroplasia. Leg radiographs depicting dysplastic distal femoral and proximal tibial epiphyses, and distal femoral metaphyseal broadening, cupping, irregularities (white arrows) and radiolucent areas especially medially. Note the metaphyseal line of ossification of the proximal tibias (blackarrows) and relative sparing of the tibial ...
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