week 1 Flashcards
what is arthritis
joint pain
what system is the locomotor system
musculoskeletal
other roles of musculosketetal system
hematopoeitic, mineral storage
what is a developmental anomaly of bone called
dysostosis
what is a homeobox gene
structural development during embryologic development
3 types of dysostosis
aplasia, supernumerary digits, abnormal fusion of bones
what is aplasia
absent/incomplete develop
abnormal fxn
what is dysplasia
mutations interfere w/ growth or homeostasis (dwarfism)
is dysplasia pre-cancerous
no
example of sysostosis
klippel-feil - lower cervicals fuse
what symptoms typically goes w/ kippel feil
sprengels deformity
what is aka brittle bone disease
osteogenesis imperfecta
osteogenesis imperfecta has mutations to what
collagen 1
how is osteogenesis imperfecta classified
type 1: normal
type 2: lethal in utero
what type of collagen do each of the types of osteogenesis imperfecta have
type1 = 1
type 2= 1
what is the most common form of dwarfism
achondroplasia
in acondroplasia a decrease in cartilage synthesis causes a decrease in…
growth plate expansion
is acondroplasia usually spontaneous or autosomal dominant
spont: 75%
auto: 25%
what is the big deal about achondroplasia and spine
they are exaggerated, bullet vertebrae, scoliosis and spinal stenosis
what is the type of achondroplasia that is lethal
thanatrophic dwarfism, small thorax
what disease has blue sclera and brittle bones
osteogenesis imperfecta
what disease is associated with mutated fgfr3
achondroplasia
what is disease has rare genetic decrease in osteoclast bone absorption
osteopeTrosis
what does osteopetrosis cause
skeletal sclerosis (stone like)