Congenital and Neuromuscular Conditions

Question 1

What is osteogenesis imperfecta?

Answer 1

Brittle bone disease - defect in the synthesis or organisation of type I collagen

Question 2

Give some clinical features of osteogenesis imperfecta

Answer 2

Blue sclera
Fragility fractures
Hearing loss

Question 3

What is skeletal dysplasia?

Answer 3

Genetic disorder causing short stature (dwarfism)

Question 4

Achondroplasia is the commonest skeletal dysplasia. True/false?

Answer 4

True

Question 5

What embryological structure are all connective tissues formed from?

Answer 5

Mesoderm

Question 6

Name two connective tissue disorders

Answer 6

Marfan’s syndrome

Ehlers-Danlos syndrome

Question 7

Marfan’s results from a mutation of the filaggrin gene. True/false?

Answer 7

False - fibrillin gene

Question 8

Fibrillin is required in the making of what protein?

Answer 8

Elastin

Question 9

Give some clinical features of Marfan’s

Answer 9

Tall
Long limbs
Hypermobile
Long fingers

Question 10

What are some non MSK features of Marfan’s?

Answer 10

High arched palate
Aortic aneurysm
Cardiac valve incompetence

Question 11

What causes Ehlers-Danlos syndrome?

Answer 11

A defect in a gene involved in collagen and elastin formation

Question 12

Give some clinical features of Ehlers-Danlos syndrome

Answer 12

Joint hypermobility
Dislocations
Atrophic scars
Ease of bruising

Question 13

What is the mode of inheritance for Duchenne muscular dystrophy?

Answer 13

X-linked recessive

Question 14

What causes Duchenne muscular dystrophy?

Answer 14

Defect in dystrophin calcium transport gene

Question 15

Give some clinical indications of Duchenne muscular dystrophy

Answer 15

Gowers sign

Raised creatinine phosphokinase

Question 16

Duchenne muscular dystrophy is curable. True/false?

Answer 16

False - people die in early 20s

Question 17

What is the medical term for clubfoot?

Answer 17

Talipes equinovarus

Question 18

What occurs in clubfoot?

Answer 18

Abnormally aligned talus, calcaneus and navicular

Question 19

What are some risk factors of clubfoot?

Answer 19

FHx
Breech birth
Low amniotic fluid volume

Question 20

How is clubfoot treated?

Answer 20

Ponseti technique

Question 21

What is syndactyly?

Answer 21

Failure of digit separation

Question 22

How is syndactyly treated?

Answer 22

Surgery

Question 23

What is fibular hemimelia?

Answer 23

Partial or complete absence of the fibula

Question 24

What causes obstetric brachial plexus injury?

Answer 24

Shoulder of baby catching on pubic bone during birth

Question 25

What nerve roots are affected in Erb's palsy?

Answer 25

C5 and C6

Question 26

What classic posture is seen in Erb's palsy?

Answer 26

Waiter's tip

Question 27

What nerve roots are affected in Klumpke's palsy?

Answer 27

C8 and T1

Question 28

Klumpke's palsy causes paralysis of which muscles?

Answer 28

Intrinsic hand muscles and/or finger/wrist flexors

Question 29

Klumpke's palsy has a better/worse prognosis than Erb's palsy

Answer 29

Worse

Question 30

Give some causes of cerebral palsy

Answer 30

``` Genetic abnormalities Brain malformation Hypoxia Intrauterine infection Meningitis ```

Question 31

What is the commonest type of cerebral palsy?

Answer 31

Spastic

Question 32

What is spina bifida?

Answer 32

Failure of fusion of the posterior vertebral atch

Question 33

The mild form of spina bifida is spina bifida cystica/occulta and the severe form is spina bifida cystica/occulta

Answer 33

Mild - occulta | Severe - cystica

Question 34

Spina bifida occulta commonly presents with what?

Answer 34

Birth mark on skin

Question 35

What are some symptoms of spina bifida?

Answer 35

Pes cavus Toe clawing Bladder/bowel problems

Question 36

In spina bifida occulta there is motor and sensory deficit above/below the level of lesion

Answer 36

Below