Bone Path

Question 1

Micromelic shortening of limbs
Small chest cavity
Bell shaped abdomen
Macrocephaly

Answer 1

Thanatropic dwarfism

Question 2

What is the mutation in thanatropic dwarfism?

Answer 2

Point mutation in FGFR3
Diminished prolif of chondrocytes
Lethal

Question 3

Lax joints
Blue sclera
Dental imperfection
Skeletal fragility
Hearing impairment

Answer 3

Osteogenesis imperfecta

Auto Dom

Question 4

What is the mutation in osteogenesis imperfecta?

Answer 4

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