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Musculoskeletal > Congenital and Paediatric Conditions > Flashcards

Congenital and Paediatric Conditions Flashcards

1
Q

osteogenesis imperfecta is a defect in what fibres

A

type 1 collagent causing low density bones

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2
Q

what is the mode of inheritance of osteogenesis imperfecta

A

autosomal dominant most commonly more severe version is autosomal recessive

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3
Q

what is the clinical presentation of osteogenesis imperfecta

A

multiple unexplained fractures during childhood
short stature
blue sclera
loss of hearing

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4
Q

how do the bones appear on x-ray in osteogenesis imperfecta

A

thin, thin cortices and osteopenic

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5
Q

describe the management of osteogenesis imperfecta

A

prevent injury - intra-medullary stabilisation

bisphosphonates to increase cortical thickness

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6
Q

describe the mode of inheritance of Marfans syndrome and where the defect is

A

autosomal dominant, defect in fibrillin gene

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7
Q

list the clinical features of Marfans

A 
scoliosis 
tall stature with long limbs 
high arches palate 
pectus excavadum 
aortic valve incompetence and risk of aortic dissection 
risk of retinal detachment
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8
Q

what is the defect in Ehler Danlos syndrome

A

abnormal elastin and collagen formation

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9
Q

describe the presentation of Ehler Danlos syndrome

A 
joint hypermobility 
easy bruising 
vascular fragility 
joint instability 
increased risk of scoliosis
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10
Q

what is the mode of inheritance of Duchenne muscular dystrophy and what is the defected gene

A

x-linked recessive - only boys get it

defect in dystrophin gene for calcium transport

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11
Q

describe the presentation of Duchennes

A

weakness in legs when starting to walk
Gowers manoeuvre - walking hands up legs to get to standing
cannot walk by age 10 and progressive cardiac failure by 20

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12
Q

how is Duchennes diagnosed

A

child not able to walk by 18 months
test creatinine kinase levels and will be raised
abnormal muscle biopsy

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13
Q

describe the management of duchennes

A

physio, splintage and deformity correction to prolong mobility of limbs

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14
Q

what is cerebral palsy

A

neuromuscular disorder with onset before 3 years due to hypoxic brain event before or during birth, disease variability due to areas of the brain affected

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15
Q

list some causes of cerebral palsy

A 
intrauterine infection 
hypoxia during birth 
meningitis 
prematurity 
brain malformation
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16
Q

what is spastic CP

A

most common type causing increased spasicity of muscle and worsening weakness

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17
Q

what is ataxic CP

A

hypoxia to cerebellum reducing coordination and balance

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18
Q

define monoplegic, hemiplegic, diplegic and paraplegic CP

A

mono - one limb affected
hemi - arm and leg from same side affected
diplegic - just legs affected
para - all 4 limbs affected

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19
Q

list the management of CP

A

physio and splintage to prevent contractures
botox injections into spastic muscles
surgery for hip dislocations and joint fusions

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20
Q

what is spina bifida

A

congenital condition where the 2 halves of the vertebral arch fail to fuse, different types with varying severity

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21
Q

what is the most severe type of spina bifida

A

spina bifida cystica - outpouching of vertebral body with CSF, meninges and spinal cord. can be associated with hydrocephalus

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22
Q

list causes of obstetric brachial plexus injury

A

breech
large babies (macrosomia in diabetes)
twins
shoulder dystocia

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23
Q

which two conditions make up brachial plexus injury

A

Erbs palsy and Klumpkes palsy

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24
Q

Erbs palsy affects which nerve roots

A

C5 and C6

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25
Q

describe the presentation of Erbs palsy

A

loss of motor innervation of deltoid, supraspinatus, infraspinatus and biceps
leads to internal rotation of the humerus

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26
Q

how is Erbs palsy managed

A

physio for 6 months, good prognosis if biceps function returns, surgery required if no improvement

27
Q

Klumpkes palsy affects which nerve roots

A

C8 and T1

28
Q

how is the arm positioned in Klumpkes palsy

A

fingers appear flexed

29
Q

describe the position of childrens legs at birth then at age 3

A

birth - normal varus (bow legged)
aged 3 - normal valgus (knock knees)
goes to normal angle by age 7-9

30
Q

the majority of genu valgus and varum resolves as the child grows true/false

A

true

31
Q

list some underlying causes of valgus/varus knees

A

blounts disease
rickets
neurofibromatosis
enchondromas

32
Q

list the 3 causes of in-toeing

A

femoral neck anteversion
internal tibial torsion - bone rotates inwards on its vertical axis
forefoot adduction

33
Q

when is in-toeing managed surgically

A

only if it persists past age 8 and causing pain/issues

34
Q

what is pes planus

A

flat feet

35
Q

what two types are flat feet divided into

A

flexible and fixed

36
Q

describe flexible flat feet

A

flat feet until dorsiflexion of the big toe then arch appears

37
Q

what is the underlying cause of flexible flat feet

A

ligamentous laxity or familial

38
Q

flexible flat feet needs treated true/false

A

false - usually normal variant

39
Q

describe fixed flat feet

A

foot remains flat irrespective of dorsiflexion or load

40
Q

what causes fixed flat feet

A

usually bony abnormality such as tarsal coalition - bones of the hindfoot have abnormal connections

41
Q

what is the treatment of fixed flat feet

A

usually surgery to correct bony abnormality

42
Q

what is developmental dysplasia of the hip

A

dislocation or subluxation of the femoral head during perinatal period affecting the further development of the joint. affects boys more than girls

43
Q

list some risk factors for DDH

A 
breech 
boy
first born 
increased birth weight 
family history of DDH
44
Q

what is the presentation of DDH

A

shortened limb
asymmetrical groin creases
positive ortolani and barlows test

45
Q

describe ortolani test

A

reducing a dislocated hip with abduction and anterior placement

46
Q

describe barlow test

A

dislocatable hip with flexion and posterior displacement

47
Q

what are the investigations for DDH

A

ultrasound showing dislocation and shallow acetabulum

x-ray not effective until 6 months as femoral head is unossified

48
Q

describe the management of DDH

A

mild cases - observe with regular examination and ultrasound to make sure hip remains reduced
persistent cases - hips reduced and held in Palvik harnesses keeping hips in flexion and abduction for full time for 6 weeks then part time for further 6 weeks

49
Q

what typically preceeds transient synovitis of the hip

A

URTI affects 2-10 year old typically

50
Q

list some differentials that must be ruled out before transient synovitis of the hip is confirmed

A

Perthes disease
SUFE
juvenile idiopathic arthritis

51
Q

how is transient synovitis of the hip managed

A

once serious conditions ruled out, short course of NSAIDs and rest

52
Q

what causes Perthes disease

A

idiopathic osteochondritis of the femoral head and loses its blood supply leading to avascular necrosis

53
Q

what are the complications of Perthes disease

A

femoral head collapse
arthritis
requirement for hip replacement young

54
Q

list the clinical features of Perthes Disease

A

pain in hip with limp
loss of internal rotation followed by loss of abduction
commonly seen in overweight boys

55
Q

which condition presents with positive Trendellenburgs test

A

Perthes disease - affected hip droops due to gluteal weakness

56
Q

how is Perthes disease managed

A

no specific treatment other than regular x-rays and avoidance of physical activity

57
Q

who is most at risk of developing slipped upper femoral epiphysis and what is it

A

pre-pubertal overweight boys - femoral head slips inferiorly in relation to the femoral neck as growth plate is not strong enough for body weight

58
Q

how does SUFE present

A

pain in either the groin or knee
limp
loss of internal rotation

59
Q

outline the management for SUFE

A

surgery to pin femoral head to prevent further slippage, chronic cases may require osteotomy

60
Q

what is talipes equinovarus

A

clubfoot - congenital deformity due to abnormal alignment of the joints between talus, calcaneus and navicular

61
Q

what are the risk factors for developing clubfoot

A

genetics
breech position
oligohydramnios - low amniotic fluid content

62
Q

describe the positioning of the feet in clubfoot

A

ankle equinus - plantarflexion
supination of the forefoot
varus alignment of forefoot

63
Q

what type of splintage is carried out for clubfoot

A

Ponseti technique, feet held in plaster cast for 6 weeks then once correct position found child is placed in brace with bar across the feet for 23 hours a day to prevent recurrence

Musculoskeletal (11 decks)

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