bone soft tissue Flashcards
achondroplasia hot terms
activating mutation of FGFR3 constituitively inhibiting chondrocyte differentiation. dwarfism with macrocephaly. failure of epiphysial cartilage formation. most common form of dwarfism. AD trait.
what is the mental status and life span of achondroplasia?
normal.
what does Vit C deficiency cause? how does this affect the bones?
scurvy. it inhibits the function of osteoblasts and causes abnormal collagen formation. wound healing and bone growth are impaired. there is also widespread capillary bleeding.
scoliosis?
abnormal lateral curvature of the spine that usually affects adolescent girls.
kyphosis
abnormal anteroposterior curvature of the spine.
how to treat scoliosis
putting braces on the back to appropriately apply pressure to the spine, moving it back into proper alignment.
osteochondroma hot terms
defect of skeletal growth from the ring of ranvier in the growth plate. cartilage-capped, bony, stalked osteochondroma. surrounded by a fibrous perichondrial membrane.
hereditary multiple osteochondromatosis
most common inherited AD trait MSK disorder. loss of EXT1/2 gene function. dwarfism can result in severe cases.
hemihypertrophy etiology and risks
where one growth plate is stimulated excessively. one limb will become longer than the other. children are at increased risk for neoplasm.
osteoporosis hot terms
abnormally dense bone. chalk-like and brittle. marble bone or albers-schonberg is rare inherited disease of abnormally dense bone. block-like, radio dense bone.
who gets the autosomal dominant form of osteopetrosis and who gets the AR? what is the difference in severity?
adults get the AD, children get the recessive. the childhood form is more severe.
what is the function of the gene for the AD osteopetrosis and the AR?
AD: osteoclast proton pump.
AR: carbonic anhydrase II.
why is carbonic anhydrase needed to lay down bone?
it isn’t. but it is required for osteoclasts to remodel bone. they need an acidic environment to elevate the calcium/
what happens to hematopoiesis in osteopetrosis?
there is replacement of the marrow cavity with osteoclasts and extensive fibrosis. can cause anemia or pancytopenia. there will be extra medullary hematopoiesis
osteogenesis imperfect hot terms
defect in collagen type I. type I OI is the less severe type. AD trait multiple fractures, blue sclera, hearing abnormalities. thin, delicate, abnormally curved bones. decreased cortical thickness and trabecular bone. misshapen blueish-yellow teeth.
stature in OI
unaffected.
what happens as a child with OI gets older.
the fractures become farther apart and less severe.
what causes the blue sclera in OI
the underlying choroidal veins are apparent.
type II OI
lethal. perinatal, AD inheritance.
type III OI
one of the most devesatiting, with growth abnormalities deformation, AD. blue sclera at birth, but white shorty after.
type IV OI
same as I, but with white sclera.
collier disease ( multiple endochondromatosis)
asymmetric, multiple cartilaginous tumors that lead to bony deformities. tumor-like masses of abnormally arranged cartilage. tumors present in the metaphyses. as growth continues the tumors settle in the diaphysis. PTHR1 gene. PTH is involved in this syndrome.
what are the phases of bone reparation?
inflammatory, reparative and remodeling
characteristics of reactive bone formation?
suburst pattern or onion-skin patterning. can be either woven or lamellar. this is intramembranous bone because it is derived from the periosteum or the endosteal tissue.
