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Orthopaedics > Congenital MSK Disorders > Flashcards

Congenital MSK Disorders Flashcards

1
Q

What is osteogenesis imperfecta and what causes it?

A

Brittle bone disease

–> collagen defect

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2
Q

What are the clinical features of osteogenesis imperfecta?

A 
Multiple frailty fractures in childhood
Short stature + multiple deformities
Blue sclerae
Hearing loss
(may be mistaken for NAI fractures)
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3
Q

What is skeletal dysplasia?

A

Short stature (dwarfism no longer use)

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4
Q

What is the most common type of skeletal dysplasia and what are its features?

A

Achondroplasia

  • disproportionately short limbs with prominent forehead + widened nose
  • joints lax
  • mental development normal
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5
Q

Joint hyper mobility is caused by disorders of what?

A

Collagen

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6
Q

Give some examples of conditions causing joint laxity

A

Generalised (familial) joint laxity
Marfan’s syndrome
Ehlers-Danlos syndrome
Down syndrome

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7
Q

What are the features of generalised joint laxity?

A

‘Double jointed’

- prone to soft tissue injuries and recurrent dislocations

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8
Q

Which gene is implicated in Marfan’s syndrome?

A

Fibrillin gene

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9
Q

What are the clinical features of Marfan’s syndrome?

A 
Tall + long limbs
Ligamentous laxity
High arched palate
Scoliosis
Flattened chest (pectus excavatum)
Lens dislocation + retinal detachment
Aortic aneurysm, aortic dissection, aortic + mitral regurgitation
Spontaneous pneumothorax
Sudden cardiac death
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10
Q

What are the clinical features of Ehlers-Danlos syndrome?

A

Profound joint hyper mobility + instability
Vascular frailty –> easy bruising
Scoliosis

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11
Q

What are the MSK manifestations of Down syndrome?

A

Short stature
Joint laxity –> recurrent dislocations
Atlanto-axial instability

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12
Q

What is the inheritance pattern of muscular dystrophies?

A

Usually X-linked recessive –> only boys

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13
Q

What are the cardinal features of muscular dystrophies?

A

Progressive muscle weakness and wasting

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14
Q

What is the usual presentation of Duchenne muscular dystrophy?

A

Muscle weakness noticed when boy starts to walk

–> difficulty standing (Gower’s sign) + going up stairs

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15
Q

What is the progression of Duchenne muscular dystrophy?

A

Can’t walk by age 10

Death in early 20s due to progressive cardiorespiratory failure

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16
Q

How is Duchenne muscular dystrophy diagnosed?

A

High serum creatinine phosphokinase

Abnormal muscle biopsy

17
Q

What are some treatments used to prolong mobility in muscular dystrophy?

A

Physio
Splintage
Deformity correction

18
Q

What are the features of Becker’s muscular dystrophy?

A

Similar to Duchenne but milder

- able to walk into teens and may survive until 30-40

19
Q

What causes cerebral palsy?

A

Insult to immature brain before, during or after birth e.g.

  • genetics
  • brain malformation
  • infection in early pregnancy
  • prematurity
  • intra-cranial haemorrhage
  • hypoxia during birth
  • meningitis
  • idiopathic
20
Q

What are the different types of cerebral palsy?

A

Spastic (most common - 80%) –> weakness + spasticity
Ataxic –> balance + co-ordination
Athetoid –> uncontrolled writhing, sudden changes in tone + difficulties controlling speech

21
Q

What is it called if only one limb is affected in cerebral palsy?

A

Monoplegic

22
Q

What is it called if ipsilateral arm and leg are involved in cerebral palsy?

A

Hemiplegic (most common)

23
Q

What is it called if both legs are involved in cerebral palsy?

A

Diplegic

24
Q

What is it called if all four limbs are affected in cerebral palsy?

A

Quadriplegic

- usually learning difficulties

25
Q

What are some of the management options for cerebral palsy?

A

Physiotherapy and splintage
Baclofen + botox for spasticity
Surgical management of specific problems e.g. joint contractures, scoliosis + hip dislocation

26
Q

What causes spina bifida?

A

Failed fusion of two halves of posterior vertebral arch in early gestation

27
Q

What are the two types of spina bifida?

A

Spina bifida occulta (mild)

Spina bifida cystica (severe)

28
Q

What are the features of spina bifida occulta?

A

May be no problems
Tethering of spinal cord/roots –> high arched foot (pes cavus) + clawing of toes
Tell-tail dimple/tuft of hair

29
Q

What are the features of spina bifida cystica?

A

Herniation of meninges +/- spinal cord through defect
–> neuro deficit below lesion
May have associated hydrocephalus

30
Q

What is the immediate management of spina bifida cystica?

A

Defect closure within 48 hours to prevent drying or infection
Shunt if hydrocephalus

31
Q

What is poliomyelitis?

A

Viral infection affecting motor tracts –> LMN lesion

32
Q

What are the features of polio?

A

Virus enters GI tract –> flu like illness + variable degree of paralysis (usually group of muscles in one limb)
Sensation preserved
Residual paralysis can occur –> deformity, growth defects + shortening of limb

33
Q

Which babies are most likely to get a brachial plexus injury during delivery?

A 
Large babies (macrosomia in DM)
Twin deliveries
Shoulder dystocia
34
Q

What is the most common type of brachial plexus injury?

A

Erb’s palsy

35
Q

Which nerves are injured in Erb’s palsy?

A

C5 + C6

36
Q

What are the features of Erb’s palsy?

A

Internal rotation of humerus

–> classic waiter’s tip posture

37
Q

What is the management of Erb’s palsy?

A

Physiotherapy early to prevent contractures

biceps function usually returns within 6 months

38
Q

Which nerves are affected in Klumpke’s palsy and how are they injured?

A

C8 + T1

- forceful adduction during delivery

39
Q

What are the clinical features of Klumpke’s palsy and what is the management?

A

Paralysis of intrinsic hand muscles +/- finger + wrist flexors
Possible Horner’s syndrome
Fingers typically flexed

Worse prognosis than Erb’s palsy, no specific treatment

Orthopaedics (18 decks)

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