Camurati-Engelmann disease

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. Synonym(s): Camurati-Engelmann disease, Engelmann disease

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.

单词	camurati-engelmann disease
释义	DictionarySeeCED Camurati-Engelmann disease 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. Synonym(s): Camurati-Engelmann disease, Engelmann disease 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. AcronymsSeecooperative educationThesaurusSeedisease
随便看	to throw off to throw on to throw one's self down to throw one's self on to throw one's weight around to throw out to throw over to throw overboard to throw the book at to throw to the winds to throw to the wolves to throw up to throw up another's heels to throw up one's hands to throw up the sponge to thrust away to thrust in to thrust off to thrust on to thrust one's nose into to thrust one's self in to thrust out to thrust through to thrust to to thrust together