Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

2 MSK > paediatric congenital and neuromuscular disease > Flashcards

paediatric congenital and neuromuscular disease Flashcards

1
Q

list the congenital orthopaedic conditions (inane)

A

club foot
rocker bottom foot
neurofibromatosis
skeletal dysplasia

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

list the neuromuscular paediatric conditions (acquired)

A

cerebral palsy
tip toe walking
duchene muscular dystrophy
high arch (cavus) foot

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

what are the CAVE features of club foot

A

Cavus (high arch)
Adductus (front part of foot turns in)
Varus (bowed legged)
Equinus (unable to bend foot upward)

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

who gets clubbed foot

A

2:1 boys

50% bilateral

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

what causes clubfoot

A

mainly idiopathic but associated with:

diastrophic dysplasia
tibial hemimella
myelomeningocoele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

how do you treat club foot

A

progressive casting

+/- achilles tentomy

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

what is rocker bottom feet

A

congenital vertical talus causing dislocation of the talus on navicular

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

features of rocker bottom feet

A

round plantar surface

equines hind foot

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

whats the real name for clubfoot

A

congenital talipes equinovarus

fixed ankle equinus

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

whats the real name for rocket bottom foot

A

congenital vertical talus

fixed ankle equinus

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

what is neurofibromatosis

A

a congenital condition affecting:
extremities
spine (scoliosis)
skin (neurofibromas)

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

to diagnose neurofibromatosis they need to have 2 out of 7 of these symptoms

A 
>6 cafe au lait spots 
>2 neurofibromas (never tumours)
freckling axilla/inguinal region 
optic glioma 
>2 litchi nodules 
cortical thinning/psudoarthrosis 
first degree relative affected
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what gene is associated with neurofibromatosis

A

NF1 (most common)
AD
Ch17

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

what are skeletal dysplasias

A

(dwarfisms)

congenital disorders involving bone and cartilage leading to dysplasia (abnormal development)

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

features of skeletal dysplasia

A

shortening of involved bone

short stature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what are the two main types of skeletal dysplasia

A

proportionate

disproportionate

17
Q

two main ways to classify dysplasias

A

by the area of bone affected eg.
epiphyseal
metaphysial
diaphyseal

by the pathophysiology eg.
storage disease
fibrous disorders

18
Q

what genes can be affected in achondroplasia

A

fibroblast growth factor receptor 3 (FGFR3)
AD
80% spontaneous mutations

19
Q

features of achondroplasia

A 
normal trunk/short limbs 
frontal bossing (unusually pronounced forehead) 
Genu Varum (bowed legs) 
normal intelligence 
motor delay
20
Q

what is cerebral palsy

A

non-progressive neuromuscular disorder

21
Q

what causes cerebral palsy

A

injury to immature brain (<2 years)

  • prematurity
  • perinatal (infection, anoxic injuries, meningitis)
22
Q

what are some features of cerebral palsy

A 
UMN disease (muscle weakness/spasticity) 
early sign of abnormal muscle forces > dynamic deformity 
late sing of contra cures/fixed deformity/dislocation
23
Q

what is the most common muscular dystrophy

A

duchenne muscular dystrophy

24
Q

what is duchene muscular dystrophy

A

an inherited disorder with progressive muscle weakness

25
Q

what causes duchene MD

A

x linked recessive mutation (1/3 spontaneous) so mainly affecting boys

leads to the absence of the dystrophin protein so muscles are replaced with firbofatty tissue

26
Q

what is the aim of treatment for duchenne muscular dystrophy

A

keep ambulatory

decrease contractors

27
Q

when does duchenne muscular dystrophy present

A

2-5 years

28
Q

what are some features of Duchenne muscular

A

muscle weakness (proximal >distal)
clumsy walking
positive powers sign
scoliosis

29
Q

how do you diagnose Duchenne muscular dystrophy

A 
creatine phosphate 
muscle biopsy (absence of dystrophin)
30
Q

what is Gowers sign for Duchenne muscular dystrophy

A

using hands to push on legs to stand

31
Q

what are Cavus feet

A

pes cavus - high arches

elevated longitudinal arch and various hind foot

32
Q

how do you treat cavus feet

A

physiotherapy

surgery (osteotomies)

2 MSK (35 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions