Histopathology Flashcards
cancellous bone
medulla
cortical bone
compact
long bone growth
endochondrial ossification
failure of calcification at the zone of bone formation
results in failure of bone growth
features of achondroplasia
short limbs
trident hands
NORMAL trunk length
contracted base of skull
commonest of the short-limb patters of dwarfism
achondroplasia
achondroplasia affects how many
1/30,000
sporadic achondroplasia?
75%
inheritence of achondroplasia
Dominant
Intramembranous bone growth
(1) flat bones (skull)
fibrous connective tissue
(2) thickening (appostional growth) of the long bones
Endochondral bone growth
peiphyseal growth lates
lengthening of bone
growth plates fuse at:
around 16y
achondroplasia bone growth
restriction in growth of length
architectural disturbance of the growth plates
achondroplasia histology
disrupted chondrocyte columns
no tidy structure and irregular ossification
subsequent ossification
well-ordered columns of chondrocytes, enlarge, get to end of bone, undergo calcification
achondroplasia genetic abnormality
FGFR
1/2/3
inhibits proliferation of chondrocytes
osteogenesis imperfecta collagen type
type 1
type 1 collagen makes up… of matrix
90%
mild imperfecta
limited amount of point mutations
defective organic matrix in imperfecta leads to
defective mineralisation of bone
osteopetrosis defect
osteoclast arm of bone forming unit
more formation than resorption
whats happening in osteopetrosis
thick bone but v fragile due to inadequate collagen 1 mineralisation
children with osteopetrosis present
defective osteoclasts
bones become increasingly dense leading to disappearance of the marrow and compromised haemopoeisis.
how do osteopetrosis patients present?
pancytopaenia
treat with bone marrow transplant