Camurati-Engelmann disease

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di·a·phys·i·al dys·pla·si·a

progressive, symmetrical fusiform enlargement of the shafts of long bones characterized by the formation of excessive new periosteal and endosteal bone and irregular conversion of this cortical bone into cancellous bone; anemia does not occur as a rule, as in osteopetrosis.

Camurati-Engelmann disease

Etymology: Mario Camurati, Italian physician, 1896-1948; Guido Engelmann, twentieth-century Czechoslovakian surgeon
an inherited disorder of bone development marked by an onset of symptoms of muscular pain, weakness, and wasting, mainly in the legs, during childhood. The symptoms vary individually from mild to disabling. Radiographic examination usually reveals thickening of the periosteal and medullary surfaces of the diaphyseal edges of the long bones. In some cases compression of nerve tissue may occur. The symptoms usually subside during early adulthood. Also called diaphyseal dysplasia.

Camurati-Engelmann disease

A rare autosomal dominant disorder (OMIM:131300) characterised by hyperostosis and sclerosis of the diaphyses of long bones, which usually presents in early childhood with pain, muscular weakness and waddling gait, variably accompanied by exophthalmos, facial paralysis, hearing loss and loss of vision.
 
Molecular pathology
Caued by defects of TGFB1, which encodes a transforming growth factor beta-type cytokine that up- and downregulates proliferation, differentiation, adhesion, migration, apoptosis and other functions.
References in periodicals archive ?
Eli Gonen, the Company's CEO, stated that "we are extremely pleased with the timely ability of GUMI in developing the prototype and manufacturing the DPD1 commercial model.
With our ability to contract with GUMI in March 2013 and their ability to manufacture the commercial model of the DPD1, we believe that revenues may be generated from the DPD1 before the end of the year.
Our belief is supported by the statement of GUMI's CEO, Zvi Azulai, that "after an intensive and concentrated period of R&D together with successful technical tests, we were able to produce the first DPD1.