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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 .
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses 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.
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 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.
Spondyloenchondrodysplasia is the medical term for a rare spectrum of symptoms that are inherited following an autosomal recessive inheritance pattern. Skeletal anomalies (including abnormal bone growths) are the usual symptoms of the disorder, although its phenotypical nature is highly variable among patients with the condition, including symptoms such as muscle spasticity or thrombocytopenia ...
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.
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 ...