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
