Congenital disorders of MSK

Question 1

What is osteogenesis imperfecta more commonly known as?

Answer 1

brittle bone disease

Question 2

what causes osteogenesis imperfecta?

Answer 2

defect in the maturation and organization of type 1 collagen

Question 3

what are the signs and symptoms of osteogenesis imperfecta?

Answer 3

multiple fractures in child hood, short stature, multiple deformities, blue sclerae and loss of hearing

Question 4

what do the bones look like in osteogenesis imperfecta?

Answer 4

thin, thin cortices and osteopenic. may have normal x-rays

Question 5

how do fractures heal in those with osteogenesis imperfecta?

Answer 5

heal with abundant but poor quality callus

Question 6

What was skeletal dysplasia known as?

Answer 6

dwarfism

Question 7

Is skeletal dysplasia a genetic condition?

Answer 7

yes

Question 8

how many types of skeletal dysplasia are there?

Answer 8

over 300

Question 9

Are most cases of achondroplasia autosomal dominant or sporadic?

Answer 9

80% sporadic

Question 10

What is the most common form of skeletal dysplasia?

Answer 10

achondroplasia

Question 11

what do patients with achondroplasia experience?

Answer 11

disproportionally short limbs with a prominent forehead and widened nose

Question 12

what genetic disorder results in joint hypermobility?

Answer 12

osteogenesis imperfecta

Question 13

What percentage of ‘normal’ people are hypermobile?

Answer 13

5%

Question 14

What does Marfans do to limbs?

Answer 14

disproportionately long

Question 15

what features are associated with Marfans?

Answer 15

high arched palate, scoliosis, flattening of the chest, eye problems and cardiac probs

Question 16

What is Ehlers-Danlos syndrome?

Answer 16

heterogenous condition with abnormal elastin and collagen

Question 17

What are the clinical features of Ehlers-Danlos syndrome?

Answer 17

profound hypermobility, vascular fragility, ease of bruising, joint instability and scoliosis

Question 18

What MSK features are there of Down syndrome?

Answer 18

short stature and joint laxity

Question 19

What is Duchenne muscular dystrophy?

Answer 19

a defect in the gene involved in calcium transport results in muscle weakness

Question 20

What sign is in Duchenne’s?

Answer 20

Gower’s sign

Question 21

How is Duchenne’s diagnosis confirmed?

Answer 21

raised serum creatinine phosphokinase and abnormalities on muscle biopsy