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Mutations in this gene have been shown to cause metaphyseal chondromatosis with aciduria.
This was duly X-rayed, revealing not just a fractured femur but several more around the growing ends of his bones, or metaphyseal fractures.
Multifocal osteosarcoma classically presents with symmetrical, metaphyseal lesions, and it may be difficult to determine the primary lesion.
Further investigations revealed a fracture of the skull, a number of several metaphyseal fractures, and swelling and bleeding on the surface of the brain.
Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding.
Fibrochondrogenesis alters the normal function of chondrocytes, fibroblasts, metaphyseal cells and others associated with cartilage, bone and connective tissues.
The syndrome of multifocal osteosarcoma refers to a presentation with multiple foci of osteosarcoma without a clear primary tumor, often with symmetrical metaphyseal involvement.
Metaphyseal chondrodysplasia, Jansen type - OrphaNet Information (PDF)
Metaphyseal tumors or lesions include osteosarcoma, chondrosarcoma, fibrosarcoma, osteoblastoma, enchondroma, fibrous dysplasia, simple bone cyst, aneurysmal bone cyst, non-ossifying fibroma, and osteoid osteoma.
In the early stage of the illness, the metaphyseal area on X-ray may be observed to have an uneven radiolucent zone parallel to the physis with a thin band of increased radiodensity directly bordering the physis.
Metaphyseal dysplasia, also known as Pyle's disease, Pyle's syndrome, Pyle-Cohn syndrome, and Bakwin-Krida syndrome 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.