paediatric orthopaedics Flashcards
what causes osteogenesis imperfecta
a defect in the maturation and organisation of type 1 collagen
what type of genetic transmission is OI
autosomal dominant
how does OI present
multiple fragility fractures in childhood
short stature with multile deformities
blue sclera
loss of hearing
osteogenesis imperfecta differential diagnoses
NAI
osteopaenia
how do bones appear on xray in OI
thin, with thin cortices and osteopaenic
skeletal dysplasia is the medical term for
short stature
characteristics of achondroplasia
disproportionately short limbs
prominent forehead
widened nose
lax joints
normal mental development
skeletal dysplasias are associated with
learning difficulties
spine deformity
limb deformity
internal organ dysfunction
craniofacial abnormalities
etc
people with generalised ligamentous laxity are more prone to
soft tissue injuries (eg ankle sprains)
recurrent dislocations of joints (especially shoulder and patella)
marfan’s is autosomal _________
dominant
marfan’s is due to a defect in….
the fibrillin gene
marfan’s presenation
tall stature
disproportionately long limbs
ligamentous laxity
high arched palate
scoliosis
flattening of chest
eye problems
common cause of premature death in marfan’s
cardiac abnormalties
(aortic aneurysm, cardiac valve incompetence)
what causes Ehlers-Danlos syndrome
abnormal elastin and collagen formation
clinical features of ehlers-danlos syndrome
profound joint hypermobility
vascular fragility with ease of bruising
joint instability
scoliosis
complications of surgery in ehlers-danlos syndrome
bleeding
poor skin healing
wound dehiscence
down syndrome is associated with…
short stature
joint laxity
antlanto-axial instability
muscular dystropy inheritance is normally
x-linked recessive (only affects boys)
duchenne muscular dystrophy presentation
progressive muscle wasting and weakness
what causes DMD
a defect in the dystrophin gene involving calcium transport
DMD prognosis
unable to walk at 10 years old
progressive cardiac and respiratory failure by 20 years old
death typically in early 20s
DMD diagnosis
raised serum creatine phosphokinase
abnormalities on muscle biopsy
management of DMD
physiotherapy
splintage
deformitiy correction
gower’s sign (DMD)
cerebral palsy is due to
an insult to the immature brain before, during or after birth
causes of CP
genetic problems
brain malformation
intrauterine infection in early pregnancy
prematurity
intracranial haemorrhage
hypoxia during birth
meningitis
is cerebral palsy often caused by problems during labour?
no, only 1/10 cases are due to labour problems
extra bones, absent bones, short bones, and fusions of bones are all exmaples of
limb malformations
the commonest limb malformation is
syndactyly
what is syndactyly
two digits are fused due to failure of separation of the skin/soft tissues or phalanges of adjacent digits either partially of along the full length of the digit
what is polydactyly
an extra digit
what is fibular hemimelia
partial or complete absence of the fibula often with absence of the lateral foot rays leading to a shortened limb, bowing of the tibia and ankle deformity
absence or hypoplasia of the radius leads to underdevelopment of the hand, causing what type of deformity
club hand
obstetric brachial plexus palsy is most common in small babies
true/false
false - more common in big babies
shoulder dystocia (difficult delivery of the shoulder after the head with comression of the shoulder on pubic symphysis) may lead to
obstetric brachial plexus palsy
erb’s palsy affects which roots of the brachial plexus
C5 and C6
erb’s palsy results in loss of innervation to
deltoid, supraspinatus, infraspinatus, biceps and brachialis muscles
erb’s palsy presentation
internal rotation of the humerus (due to unopposed subscapularis)
klumpke’s palsy affects which nerve roots
C8 and T1
klumpke’s palsy results in
paralysis of the intrinsic hand muscles +/- finger and wrist flexors and possible horner’s syndrome
klumpke’s palsy presentation
fingers are flexed up
sit alone/crawl
6-9 months
stands (milestones)
8-12 months
walks (milestones)
14-17 months
jumps (milestones)
24 months
climbs stairs independently (milestones)
3 years
loss of primitive reflexes
1-6 months
head control (milestones)
2 months
speaking a few words (milestones)
9-12 months
eats with fingers, uses spoon (milestones)
14 months
stacks 4 blocks (milestones)
18 months
understands 200 words, learns arounf 10 words a day (milestones)
18-20 months
potty trained (milestones)
2-3 years
pathological varus or valgus is wehre alignement is…
considered outside the normal range (+/- 6 degrees of mean)
a valgus deformity results in…
a knock kneed appearance with a larger than normal gap between the ankles
a varus deformity will result in…
a bow-legged appearance
a larger than average gap between the knees
most cases of valgus/varum deformity will resolve by age
10
in-toeing refers to a child who…
when walking and standing will have feet that point toward the midline
in-toeing can be caused by
femoral neck anteversion
internal tibial torsion
forefoot adduction
excess femoral neck anteversion can give the appearance of
in-toeing
knock knees
mobile/flexible flat feet are defined as
the medial arch forms with dorsiflexion of the great toe (Jack test)
rigid flat footedness is defined as
a flat arch regardless of load or great toe dorsiflexion
what does rigid flat foot imply?
an underlying bony abnormality (eg tarsal coalition)
underlying inflammatory or neurological disorder
what causes developmental dysplasia of the hip?
dislocation or subluxation of the femoral head during the perinatal period which affects the subsequent development of the hip joint
boys are more commonly affected by DDH
true/false
false - girls are more commonly affected
which hip is DDH more common in?
left hip
risk factors for DDH
family history
breech presentation
first born babies
down’s syndrome
other congenital disorders
complications of DDH
if untreated a false acetabulum can form leading to a shortened limb
severe arthritis may occur at a young age
gait/mobility can be reduced
signs of DDH
shortening
asymmetric groin/thigh skin creases
click or clunk on the otolani or barlow manoeuvres
what is the ortolani test
reducing a dislocated hip with abduction and anterior displacement
(postive in DDH)
what is the barlow test
dislocatable hip with flexion and posterior displacement
(postivie in DDH)
why should xrays not be used in the investigation of DDH before the age of 4-6 months
the femoral head epiphysis is unossified until 4-6 months
use USS before this age
persistent dislocation over the age of 18 months is likely to require
open reduction
transient synovitis of the hip is
a self-limiting inflammation of the synovium of the hip joint
risk factor for transient synovitis
upper respiratory tract infection
what ages does transient synovitis affect
ages 2-10
transient synovitis affects girls more commonly than boys
true/false
false - boys are more commonly affected
what is the commonest cause of hip pain in children
transient synovitis
transient synovitis presentation
restricted range of movement
may have a low grade fever
not systemically unwell or septic
investigation of transient synovitis
xray to eclude perthes
CRP to exclude septic arthritis
MRI to exclude osteomyelitis
transient synovitis treatment
NSAIDs and rest
what is perthes disease
idiopathic osteochondritis of the femoral head
perthes disease most commonly affects boys
true/false
true
perthes disease is more common in active children of short stature
true/false
true
perthes disease pathophysiology
the femoral head transiently loses its blood supply resulting in necrosis with subsequent abnormal growth
the femoral head may collapse
subsequent remodelling occurs, with the femoral head not fitting the acetabulum properly
an incongruent joint in perthes disease can lead to
early onset arthritis
perthes disease presentation
pain and a limp
usually unilateral
clinical signs of perthes disease
loss of internal rotation, then
loss of abduction, then
positive Trendellenburg test
treatment of perthes disease
no specific treatment
regular xray observation
avoidance of physical activity
subluxation of the femoral head in perthes disease may require
osteotomy of the femur or acetabulum
SUFE commonly affects
overweight prepubertal adolescent boys
what is a SUFE
the femoral head epiphysis slips inferiorly in relation to the femoral neck
risk factors for SUFE
hypothyroidism
renal disease
SUFE presentation
pain and a limp
patients can present purely with pain in the knee
why can pain from SUFE be felt in the knee
the obturator nerve supplies both the hip and knee joint
SUFE treatment
urgent surgery to pin the femoral head to prevent further slippage
severe slips in SUFE have a greater risk of
avascular necrosis
why is knee extensor mechanism pain a fairly common occurence during adolescence?
body weight increases and sporting activites increase
patellar tendonitis is usually self limiting
true/false
true
what is osgood-schlatter’s disease
inflammation of the tibial tubercle apophysis
(apohpysitis is inflammation of a grwoing tubercle where a tendon attaches)
what is osteochondritis dessicans?
a fragment of hyaline cartilage with variable amount of bone fragments breaks off the surface of the joint
which joint is most commonly affected by osteochondritis dessicans?
the knee
which bony feature is most commonly affected by osteochondritis dessicans?
medial femoral condyle
osteochondritis dessicans presentation
poorly localised pain, effusion and occasionally locking
how can you tell a lesion is at risk of breaking off in osteochondritis dessicans
fluid signal behind it on MRI
which type of meniscal tears may benifit from meniscal repair?
peripheral or bucket handle
what is talipes equinovarus also known as
club foot
what causes talipes equinovarus
in utero abnormal alignment of the joints between the talus, calcaneus and navicular
talipes equinovarus presentation
ankle equinovarus (plantarflexion), supination of the forefoot and varus alignment of the forefoot
risk factors for talipes equinovarus
male gender
family history
breech presentation
oligohydramnios (low amniotic fluid content)
talipes equinovaurs treatment
early splintage
(ponseti technique)
may require tenotomy of the achiles tendon
what is tarsal coalition
an abnormal bridge, of bony, fibrous or cartilaginous tissue, is formed between the calcaneus and navicular or between the talus and calcaneus
what can tarsal coalition cause
a painful fixed flat foot
what is scoliosis
a lateral curvature of the spine (and also rotational deformity)
causes of scoliosis
idiopathic
neuromuscular disease
tumour
skeletal dysplasia
infection
idiopathic scoliosis is more common in male/females
females
indications for scoliosis surgery
pain
cosmesis
improve wheelchair posture
respiratory complication of severe curves in scoliosis
restrictive lung defect
what is spondylolisthesis
slippage of one vertabra over another
where does sponylolisthesis usually occur
L4/5 or L5/S1 level
causes of spondylolisthesis
developmental defect
recurrent stress fracture
spondylolisthesis presentation
low back pain
radiculopathy
waddlig gait/flat back
spondylolisthesis treatment
minor - rest and physio
major - stabilisation and reduction
which nerve roots are damaged in Erb’s palsy?
C5 and C6
what is the investigation of choice is DDH is suspected after postnatal checks?
ultrasound
which of the following is not a typical feature of SUFE?
limp
pain in the hip (groin)
pain in the knee
gross shortening of the limb
loss of internal rotation
gross shortening of the limb
gross shortening would be more suggestive of a chronic condition, such as a missed DDH
a 13 year old girl presents with new and progressive back pain and a change in the curvature of her spine
on examination she has a scoliosis with the curve concave to the right
what should you do?
refer to the local paediatric or orthopaeidc unit for review
back pain in children is a red flag, so have a low threshold for referral/investigation
which of the following is not true in relation to perthes disease?
it is associated with tall stature
loos of internal rotation is often the earliest clinical sign
it is most common in boys aged 4-9
most cases are unilateral
progresseive muscular weakness is the primary feautre of duchenne’s muscular dystrophy
true/false
true
a 13 year old girl presents with 2 month history of new and progressive back pain in the lumbar region
there is no distinct point of tenderness or loss of flexibilty, but hte back appears to have lost its normal lordosis and looks quite ‘flat’
what now?
refer to the local paediatric or orthopaedic unit for review
back pain in children is always a red flag
this sounds like spondylolisthesis so may need urgent surgical repair
osteogenesis imperfect is a genetic disorder with both autosomal dominant and recessive models of inheritance
true/false
true
osgood-schlatter’s disease is usually a self-lmiting apophysitis and usually settles with time given rest
true/false
true
around the age of 3, children commonly have a valgus alignment of around 10-15 degrees
true/false
which of the following increase the risk of DDH
female sex
2nd baby
breech presentation
spina bifida
down syndrome
family history of DDH
maternal DM
the most common cause of paediatric hip pain is
transient synovitis
________ is an autosomal dominant or sporadic mutation of the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity
assocaited features include a high arched palate, scoliosis, pectus excavatum, eye problems (lens disclocation, retinal detachment), aortic aneurysm and cardiac valve incompetence
marfan’s syndrome
the age at time of diagnosis of perthes disease of the hip is inversely proportional to the prognosis
true/false
true
a 14 year old boy with pain at the top of both anterior shins
he is tall and thin and has recently grown
he has tender, prominent tibial tuberosities
whats up?
osgood-schlatter’s disease
