Bone Path Flashcards
1
Q
Micromelic shortening of limbs
Small chest cavity
Bell shaped abdomen
Macrocephaly
A
Thanatropic dwarfism
2
Q
What is the mutation in thanatropic dwarfism?
A
Point mutation in FGFR3
Diminished prolif of chondrocytes
Lethal
3
Q
Lax joints Blue sclera Dental imperfection Skeletal fragility Hearing impairment
A
Osteogenesis imperfecta
Auto Dom
4
Q
What is the mutation in osteogenesis imperfecta?
A
Mutation in alpha 1 and 2 chains of collagen so have a decreased amount of normal collagen. Affects type 1 collagen structures : bones, joints, eyes, ears, skin, teeth