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

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 ?
De ahi la funcion de los is, influir en las recomendaciones del CED.
Mexico se ha resistido a aceptar la competencia del CED para atender casos individuales, pero Decaux fundamenta su intervencion en el articulo 30 de la Convencion Internacional para la Proteccion de Todas las Personas contra las Desapariciones Forzadas, que faculta al comite para emitir alertas urgentes y medidas cautelares en casos graves.
CED is a valuable platform to assess the feasibility of administering these agents in vivo.
This is where this book comes in: with a set of theoretical probes into CED practice.
Washington, July 4 (ANI): A three-year study released by researchers at the University of South Carolina and funded by the US Department of Justice has determined that conducted electrical devices (CEDs), such as Tasers, limit injury to police officers and suspects if used properly.
Nonetheless, since the two quantities basically correspond to two entirely different physical processes in which CED corresponds to a vaporization process while IP is a measure of the change of internal energy of a liquid as a result of change its volume, it raises the question as to the physical basis for evoking the IP/CED ratio for real liquids, polymer liquids in particular.
One result has been the resurgence of CED as it is primarily concerned with sustaining community and reducing vulnerability.
Brad Selby heads a set of distribution firms that were acquired by CED. In an extremely competitive market, it's critical for a company to set itself apart.
The typical Aman CED student shares none of these characteristics.
Further evaluation included automated refraction using Canon RK-F1 Full Auto Ref-Keratometer, three measurements of CCT and CED using Topcon SP 3000P Specular Microscope (Topcon Corporation, Tokyo, Japan) and measurement of ALs and ACDs using IOL MasterA(r).
The rest of the uses did not involve discharges and are were officers draw, aim or activate the red-dot targeting on the CED.
969 which urged the President to ratify the United Nations International Convention for the Protection of All Persons from Enforced Disappearance (CED) to 'strengthen access to justice and the right to effective remedy.'