3- Congenital Disorders Flashcards Preview

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Flashcards in 3- Congenital Disorders Deck (18)
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1

What is osteogenesis imperfecta?

Brittle bone disease
Defect of maturation + organisation of type 1 collagen

2

Which inheritance pattern does osteogenesis imperfecta usually follow?

Autosomal dominant

3

List clinical features of osteogenesis imperfecta

Fragility fractures
Short stature
Blue sclerae
Hearing loss

4

What is the medical term for short stature? (not dwarfism)

Skeletal dysplasia

5

What is the commonest skeletal dysplasia?

Achondroplasia

6

List the main clinical features of achondroplasia

Disproprotionately short limbs
Prominent forehead
Wide nose
Joint laxity

7

Connective tissue disorders usually affect type 1 collagen synthesis. Is bone or soft tissue usually affected?

Soft tissue

8

How does Marfan's syndrome arise?

Autosomal dominant disease due to mutation of fibrillin gene

9

List clinical features of Marfan's syndrome

Long limbs
Ligamentous laxity
High arched palate
Scoliosis
Pectus excavatum
Cardiac issues

10

What is the defect in Ehlers-Danlos syndrome?

Abnormal collagen and elastin formation

11

List clinical features of Ehlers-Danlos syndrome

Hypermobility
Vascular fragility
Easy bruising

12

Which pattern of inheritance do muscular dystrophies usually follow?

X-linked recessive (only affect boys)

13

How does Duchenne muscular dystrophy (DMD) arise?

Defect in dystrophin gene (involved in Ca transport)

14

List the main features of Duchenne muscular dystrophy

Progressive muscle weakness
Difficulty standing (Gower's sign)
Eventually unable to walk

15

People with DMD are prone to dying in their early 20's - why?

Progressive cardiac and respiratory failure

16

How is diagnosis of DMD confirmed?

Raised creatinine phosphokinase
Abnormal muscle biopsy

17

At what age does cerebral palsy usually occur?

2-3yrs of age

18

List some potential causes of cerebral palsy

Genetic errors
Brain malformation
Intrauterine infection
Prematurity
Hypoxia
Meningitis