Bone maturation Flashcards
process issues lead to disease
recipe, ingredient, oven, cleanip
recipe
correct ingredients, assembly issue
ingredient
not available, poor quality, wrong quanitity
oven
environment not ideal for formation
cleanup
disposal or remodel issue
recipe disease
acondroplasia
acondroplasia path
most common dwarfism, AD, FGFR3 point mutation, chrome 4 (guan>adenosine), 90% new, paternal age
acondroplasia clincal
midface hypoplasia, frontal bossing, rizoment limb shortening, normal torso, hypotonia, hydrocephalus, resp problems, genu varum
FGFR3 mutation
normal gene is growth break in cartilage, mutation is MORE active, less growth where cartilage is- long bone, pedicles, skull
ingredient disease
osteogenic imperfecta
OI path
many Dif point mutations in T1 collagen> Dif clinical presentations, bone fragility. Mutation at amino end is less severe
collagen
CT, 3 chain bread, 1 is skin and bone, combine at carboxyl end
mildest OI
no type 1 gene- 50% less but all normal
OI clinical
blue sclera, dental, hearing, short, fractures (less after puberty)
treat OI
brace, surgery, bisphosphonates, GH, BMT, gene therapy
oven issue disease
blounts (genu varun)
blounts path
decreased ossification on medial tibial physics, decreased growth, internal tibial rotation, Increased pressure, decreased growth, only occurs with weight bearing
blounts EPI
obese, male, AA
blounts histo
zone of resting cartilage is hypertrophic, acellular fibrocartilage, abnormal capillaries
blounts treatment
osteotomy- early is cure
clean[ disease
morquios- mocropolysaccharidoses
micropolysach.
no lysosomal enzymes to breakdown GAGs, buildup in skin and urine. tissue thickening, decreased cell/organ function
morquios path
keratin sulfate buildup in cornea/cartilage, two enzymes (IVA/IVB galact., A is worse
morquios clinical
skeletal dysplasia, normal face, pulm issues, genu valium, arthritis
morq. treat
cervivcal surgery, osteotomy, joint replacement
