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Flashcards in Congenital disorders of MSK Deck (21)
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1
Q

What is osteogenesis imperfecta more commonly known as?

A

brittle bone disease

2
Q

what causes osteogenesis imperfecta?

A

defect in the maturation and organization of type 1 collagen

3
Q

what are the signs and symptoms of osteogenesis imperfecta?

A

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

4
Q

what do the bones look like in osteogenesis imperfecta?

A

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

5
Q

how do fractures heal in those with osteogenesis imperfecta?

A

heal with abundant but poor quality callus

6
Q

What was skeletal dysplasia known as?

A

dwarfism

7
Q

Is skeletal dysplasia a genetic condition?

A

yes

8
Q

how many types of skeletal dysplasia are there?

A

over 300

9
Q

Are most cases of achondroplasia autosomal dominant or sporadic?

A

80% sporadic

10
Q

What is the most common form of skeletal dysplasia?

A

achondroplasia

11
Q

what do patients with achondroplasia experience?

A

disproportionally short limbs with a prominent forehead and widened nose

12
Q

what genetic disorder results in joint hypermobility?

A

osteogenesis imperfecta

13
Q

What percentage of ‘normal’ people are hypermobile?

A

5%

14
Q

What does Marfans do to limbs?

A

disproportionately long

15
Q

what features are associated with Marfans?

A

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

16
Q

What is Ehlers-Danlos syndrome?

A

heterogenous condition with abnormal elastin and collagen

17
Q

What are the clinical features of Ehlers-Danlos syndrome?

A

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

18
Q

What MSK features are there of Down syndrome?

A

short stature and joint laxity

19
Q

What is Duchenne muscular dystrophy?

A

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

20
Q

What sign is in Duchenne’s?

A

Gower’s sign

21
Q

How is Duchenne’s diagnosis confirmed?

A

raised serum creatinine phosphokinase and abnormalities on muscle biopsy