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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
describe the presentation of Erbs palsy
loss of motor innervation of deltoid, supraspinatus, infraspinatus and biceps leads to internal rotation of the humerus
26
how is Erbs palsy managed
physio for 6 months, good prognosis if biceps function returns, surgery required if no improvement
27
Klumpkes palsy affects which nerve roots
C8 and T1
28
how is the arm positioned in Klumpkes palsy
fingers appear flexed
29
describe the position of childrens legs at birth then at age 3
birth - normal varus (bow legged) aged 3 - normal valgus (knock knees) goes to normal angle by age 7-9
30
the majority of genu valgus and varum resolves as the child grows true/false
true
31
list some underlying causes of valgus/varus knees
blounts disease rickets neurofibromatosis enchondromas
32
list the 3 causes of in-toeing
femoral neck anteversion internal tibial torsion - bone rotates inwards on its vertical axis forefoot adduction
33
when is in-toeing managed surgically
only if it persists past age 8 and causing pain/issues
34
what is pes planus
flat feet
35
what two types are flat feet divided into
flexible and fixed
36
describe flexible flat feet
flat feet until dorsiflexion of the big toe then arch appears
37
what is the underlying cause of flexible flat feet
ligamentous laxity or familial
38
flexible flat feet needs treated true/false
false - usually normal variant
39
describe fixed flat feet
foot remains flat irrespective of dorsiflexion or load
40
what causes fixed flat feet
usually bony abnormality such as tarsal coalition - bones of the hindfoot have abnormal connections
41
what is the treatment of fixed flat feet
usually surgery to correct bony abnormality
42
what is developmental dysplasia of the hip
dislocation or subluxation of the femoral head during perinatal period affecting the further development of the joint. affects boys more than girls
43
list some risk factors for DDH
``` breech boy first born increased birth weight family history of DDH ```
44
what is the presentation of DDH
shortened limb asymmetrical groin creases positive ortolani and barlows test
45
describe ortolani test
reducing a dislocated hip with abduction and anterior placement
46
describe barlow test
dislocatable hip with flexion and posterior displacement
47
what are the investigations for DDH
ultrasound showing dislocation and shallow acetabulum | x-ray not effective until 6 months as femoral head is unossified
48
describe the management of DDH
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
what typically preceeds transient synovitis of the hip
URTI affects 2-10 year old typically
50
list some differentials that must be ruled out before transient synovitis of the hip is confirmed
Perthes disease SUFE juvenile idiopathic arthritis
51
how is transient synovitis of the hip managed
once serious conditions ruled out, short course of NSAIDs and rest
52
what causes Perthes disease
idiopathic osteochondritis of the femoral head and loses its blood supply leading to avascular necrosis
53
what are the complications of Perthes disease
femoral head collapse arthritis requirement for hip replacement young
54
list the clinical features of Perthes Disease
pain in hip with limp loss of internal rotation followed by loss of abduction commonly seen in overweight boys
55
which condition presents with positive Trendellenburgs test
Perthes disease - affected hip droops due to gluteal weakness
56
how is Perthes disease managed
no specific treatment other than regular x-rays and avoidance of physical activity
57
who is most at risk of developing slipped upper femoral epiphysis and what is it
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
how does SUFE present
pain in either the groin or knee limp loss of internal rotation
59
outline the management for SUFE
surgery to pin femoral head to prevent further slippage, chronic cases may require osteotomy
60
what is talipes equinovarus
clubfoot - congenital deformity due to abnormal alignment of the joints between talus, calcaneus and navicular
61
what are the risk factors for developing clubfoot
genetics breech position oligohydramnios - low amniotic fluid content
62
describe the positioning of the feet in clubfoot
ankle equinus - plantarflexion supination of the forefoot varus alignment of forefoot
63
what type of splintage is carried out for clubfoot
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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