Osteoarticular 1 Flashcards
What is cretisnism due to
congenital hypothyrodism
what is symptoms of cretisnism
Delayed growth since 1st year
thickened skin
enlarged tongue
reduced mm tone/coordination
What constitues dwarfism
(skeletal dysplasia)
-3 or more SD below mean height
What accounts for 70% of dwarfism
achondroplasia
What is the main mutation in achondroplasia and what is the effect
muation in gene for FGF receptor 3 on p arm of chromosome 4
usually an inhibitor off cartilage prolif
What is scurvy due to
def of vit c
What type of rash is typical of scurvy
perifolicular rash
manifestations of survy def
(overall impaires collagen synthesis)
- poor wound healing
- defective dentine
- hemorraging
What is osteopetrosis
disorder where bones become extremely dense, hard and brittle
What is osteopetrosis due to
Decreased resorption of bone by osteoclasts results in increased amount of bone but structurally weak
Symptoms of osteopetrosis
marrow cavities become filled w compact bone
- reduced hematopoisis
- CNs become compressed
How is osteopetrosis aquired in that form
Caused by fluride deposition in bone tissue ((well water))
What are the 4 types of congenital osteopetrosis
- infantile malignant
- autosomal dom 1
- autosomal dom 2
- Carbonic anhydrase II def
tx of osteopetrosis
Bone marrow transplant
What is progressive diaphyseal disease also called and what is it caused by
Camurati- engelmann disease
-mutations of TGFbeta 1
Symptoms of progressive diaphyseal disease
- tall w long bones (diaphyseal dysplasia, metaphyseal expation)
- delayed sexual dev
- increased ESR
What is osteogenesis imperfecta 1 due to (mutation)
Decreased synthesis of pro alpha 1 collagen chain
What are the complications of osteogenesis imperfecta
- increased fxs
- blue sclerea
- hearing loss
- defective dentition
What constitues familial short stature
Standing height more than 2sd below mean
Continued mvmt at unhealed fracture causes
pseidoarthrosis
Histology of osteoporosis
Bone corticies thin w/ widened haversian canals
-the ratio of osteoid to mineralization is normal
What is osteomalacia
-accumulation of unmineralized bone
inadequate mineralization of newly formed bone matrix
blood markers in osteomalacia
Low vit D w/or w/o low calc/phosphorus with HIGH levels of alkaline posphatase
What is rickets due to and when
Vit d, calc or phosphoruus depletion
Impaired mineralization of bones in children before growth plate closure
