Bone Path Flashcards

1
Q

Micromelic shortening of limbs
Small chest cavity
Bell shaped abdomen
Macrocephaly

A

Thanatropic dwarfism

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2
Q

What is the mutation in thanatropic dwarfism?

A

Point mutation in FGFR3
Diminished prolif of chondrocytes
Lethal

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3
Q
Lax joints
Blue sclera
Dental imperfection
Skeletal fragility
Hearing impairment
A

Osteogenesis imperfecta

Auto Dom

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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

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