Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

MSK > paediatrics- CORTEX > Flashcards

paediatrics- CORTEX Flashcards

1
Q

whats another name for osteogenesis imperfecta?

A

brittle bones disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is the aetiology of osteogenica imperfecta/ brittle bones disease?

A

-there is a defect of the maturation and organisation
of type 1 collagen

-autosomal dominant condition

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

how does osteogenesis imperfect present?

A
  • multiple fragility fractures in childhood
  • short stature (below average height)
  • blue sclerae (blueish colour in white of eyes)
  • loss of hearing
  • bone deformities such as bow legs and scolosis
  • hypermobility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

how is osteogenesis imperfecta diagnosed?

A
  • history of low energy fractures

- thin cortices and osteopenic (loss of mass) appearing bones on Xrays

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is the management for osteogenesis imprefecta?

A
  • treat fractures with splinatge, traction or surgical stabilisation
  • may need intramedullary stabilisation in progressive cases
  • medical treatment including bisphosphonates and vit D supplements
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what is a type of skeletal dysplasia?

A

dwarfism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what is skeletal dysplasia?

A

dwarfism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

how many types of skeletal dysplasia (dwarfism) are there?

A

more than 300 types

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is the most common type of skeletal dysplasia?

A

achondroplasia (short limbed dwarfism)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

is achondroplasia autosomal recessive or dominant?

A

dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what does osteogenesis imperfect affect?

A

type 1 collagen of bone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what is generalised (familial) joint laxity?

A

hyper mobility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what are people with generalised (familial) joint laxity more prone to?

A
  • soft tissue injuries (ankle sprains)

- recurrent dislocation of joints

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what is Marfans syndrome?

A

-autosomal dominant mutation of the fibrillar gene resulting in disorder collagen synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

how does Marfans present?

A
  • tall stature
  • long limbs
  • ligamentous laxity
  • high arched palate
  • flattening of chest
  • lens discolouration
  • aortic dissection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what are common complications associated with Marfans?

A 
Mitral valve prolapse
Aortic dissection
Retinal detachment
Fibrillar-1- mutation
Arachnodactyly
Near sightedness
Scoliosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

management for Marfans?

A

minimise BP and HR (lifestyle and possibly preventative meds such as beta blockers)

physioooo

yearly ECHO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what is Ehlers Danlos syndrome?

A

autosomal dominant disorder of abnormal elastin and collagen formation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what is the presentation of Ehlers Danlos

A
  • profound hypermobility
  • vascular fragility
  • easy bruising
  • joint instability
  • scoliosis
  • soft stretchy skin
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

how is Ehlers Danlos diagnosed?

A

-beighton score for hyper mobility (9 point score)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

what is Trisomy 21?

A

downsyndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

what is Duchenne muscular dystrophy?

A

-a defect in dystrophin gene involved in calcium transport results in muscle weakness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

what is the presentation of Duchenne Muscular dystrophy?

A
  • progressive muscle weakness

- Gowers sign positive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

how is Duchenne Muscular dystrophy diagnosed?

A

-raised serum creatine phosphokinase and abnormalities on muscle biopsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
what is the management for Duchenne Muscular dystrophy?
- physio - splintage - deformity correction
26
what is cerebral palsy?
-a group of neuromuscular disorders that affects movement and co ordination. It's caused by a problem with the brain that develops before, during or soon after birth
27
what are the different types of cerebral palsy?
- spastic diplegia/diparesis (most common) - spastic hemiplegia/ hemiparesis - spastic quadriplegia/quadriparesis
28
what is spina bifida?
-a congenital disorder where the two halves of the posterior vertebral arch fail to fuse, probably in the first six weeks of gestation
29
how may mild vs severe spina bifida present?
mild= spina bifida occulta- can develop tethering of the spinal cord and roots which can cause high arched foot (per caves) severe= spina bifida cystica- the contents of the vertebral canal herniate through the defect with either herniation of the meninges alone or with the spinal cord or caudal equine
30
what is polio?
-a viral infection which affects motor anterior horn cells in the spinal cord or brainstem resulting in a lower motor neurone deficit
31
what age should baby be able to sit alone/crawl?
6-9 months
32
what age should a baby be able to stand?
8-12months
33
what age should a baby be able to walk?
14-17 months
34
what age should a baby be able to jump?
24 months
35
at what age should a baby be able to manage stairs independently?
age 3
36
what age should a baby lose their primitive flexes ? (grasp reflex, moro reflex, stepping reflex)
1-6 months
37
what age should a baby develop head control?
2 months
38
what age should a baby be able to speak a few words ?
9-12 months
39
what age should a baby be able to eat with fingers and use a spoon?
14 months
40
what age should a baby be able to stack four blocks?
18 months
41
what age should a baby be able to understand 200 words/ learn around 10 words per day?
18-20 months
42
what age should a baby be potty trained?
2-3 years
43
progression of babies knees?
born- varus knees 14 months- naturally align 3 years- 10 to 15 degrees valgus 7 to 9 years - 6 degrees valgus
44
what is Blount's disease?
-a growth disorder of the medial proximal tibial physis causing excessive gene varum
45
what are pathological causes of gene valgum?
- rickets - tumours - trauma - neurofibromatosis - idiopathic
46
what is in toeing?
-refers to a child who, when walking and standing will have feet point toward the midline
47
what is femoral neck ante version?
-a part of the normal anatomy, the femoral neck is slightly anteverted (points forwards), excess femoral neck anterversion can give impression of in toeing and knock knees
48
what is developmental dysplasia of the hip? (DDH)
-structural abnormality of the hip caused by abnormal development of fatal bones during pregnancy
49
what are risk factors of developing DDH?
- breech presentation - first born - Down syndrome - girls more affected than boys
50
what is the presentation of DDH?
-shortening, asymmetric groin/thigh skin creases, a clink or a clunk on Ortolani or Barlow manoeuvres
51
how is DDH diagnosed?
-USS before 4.5 months
52
what is the management for DDH?
Pavlick Harness (if older than 4 month may need surgery)
53
who does DDH normally effect?
0-2 years
54
who does transient synovitis of hip normally affect?
0-10 years
55
what is transient synovitis?
-a self limiting inflammation to the synovium of a joint. Often occurring after a upper respiratory tract infection
56
how did transient synovitis present?
- no fever - acute limp - hip pain - low grade temp
57
how is transient synovitis?
-rule out more serious pathology
58
what is the management for transient synovitis?
-conservative with follow up safety netting
59
how old are typical patients with Perthes?
4-9 years
60
what is perthes?
-idiopathic osteochondritis of the femoral head causing AVN of the bone
61
how is Perthes diagnosed?
X ray can show joint space widening
62
what is the management plan for Perthes disease?
<6 years: observation with bed rest, traction, crutches Older or severe- surgery
63
Ponseti technique
64
false
65
14-17 months
66
QUESTION 4
67
3 years
68
Osgood-Schlatter's disease
69
uncontrolled writhing motion, sudden changes in tone and difficulties controlling speech
70
True
71
underlying ligamentous laxity
72
Ehler Danlos
73
Motor neurons are affected, typically manifesting as weakness of a group of muscles within a single limb
74
False
75
True
76
True
77
pain is worse on coughing

MSK (64 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions