E1

Question 1

Structural development during embryological development

Answer 1

Homeobox gene

Question 2

What is an example of dystosis

Answer 2

Kipper-feil syndrome

Question 3

What is an example of kleppel-feil syndrome

Answer 3

Sprengles deformity ( congenital fusion)

Question 4

What is the most common congenital limb malformation, 1 in 2,500 births ?

Answer 4

Syndactyly

Question 5

Mutations interfere with growth or homeostasis

Answer 5

Dysplasia

Question 6

Is dysplasia when dealing with the musculoskeletal system pre cancerous ?

Answer 6

NO!

Question 7

Osteogenesis imperfecta is mutations of what ?

Answer 7

Type 1 collagen (alpha 1 or alpha 2 chains)

Question 8

Which type of osteogenesis imperfecta is lethal in Utero?

Answer 8

Type II

Question 9

Osteogenesis imperfecta most commonly effects what parts of the body?

Answer 9

Eyes and ears, all bones.

Question 10

Zebra stripe sign is a result of a patient being treated with what?

Answer 10

Bisphosphonates

Question 11

What is the most common form or dwarfism ?

Answer 11

Achondroplasia

Question 12

What is mutated to cause achondroplasia?

Answer 12

FGFR3

Question 13

Are most cases of achondroplasia spontaneous or autosomal dominant?

Answer 13

Spontaneous (75%), Autosomal dominant (25%)

Question 14

What is abnormal frontal curve in someone with achondroplasia?

Answer 14

Frontal bossing

Question 15

Osteopetrosis is is a genetic disorder that occurs because a decrease of what?

Answer 15

Osteoclasts-mediated bone reabsorption

Question 16

What type of bone does osteoporosis effect?

Answer 16

Trabecular bone

Question 17

Osteoporosis is a severe form of what?

Answer 17

Osteopenia

Question 18

Osteoporosis is a decrease of_______ and an increase in_______

Answer 18

Bone mass, porosity