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Flashcards in MSK week 3 Deck (110):

What is osteogenesis imperfecta?

Brittle bone disease- defect of maturation and organisation of type 1 collagen.


How is osteogenesis imperfecta inherited?

Majority autosomal dominant.


Presentation of osteogenesis imperfecta

Multiple fractures in childhood
Short stature
Multiple deformities
Blue sclera
Hearing loss


On examination of osteogenesis imperfecta what would you expect to find

Mild cases- will have normal X-rays with a history of low energy fractures
Fractures tend to heal with abundant but poor quality callus.


How would you treat osteogenesis imperfecta?

Splintage, traction or surgical stabilisation.
Severe cases will need osteotomy.


What is skeletal dysplagia?

Medical term for short stature.
Genetic error resulting in abnormal development of bone or connective tissue.
Can be proportionate or disproportionate (limbs and spine are in proportion or not)


Commonest type of skeletal dysplagia



Describe the appearance of acondroplasia

Limbs will be disproportionate to the spine.
Prominent forehead
Widened nose
Lax joints


How is achondroplasia inherited?

Autosomal dominent
80% of cases are sporadic.


Treatment of skeletal dysplagia

Genetic testing of families should be considered
Orthopedic treatment comprises of deformity correction and limb lengthening.


What is generalised familial joint laxity?

"double jointed"
5% of normal people have hypermobility of joints'


What joint laxity a risk factor for?

More prone to soft tissue injuries and recurrent dislocations


How can Marfans syndrome affect the joints and limbs

Disproportionately long limbs and ligamentous laxity.
Specifically scoliosis (abnormal twisting of the spine)


Treatment of Marfans syndrome

Patients can have surgery to repair scoliosis
However soft tissue stabilisation of dislocating joints generally has poor outcomes.


How is Marfans inherited? And what is it?

It is inherited autosomal dominantly. There is a mutation in the fibrillan gene resulting in tall stature and disproportionate limbs (with ligamentous laxity).


What is Ehler danlos syndrome

Abnormal collagen and elastin formation.


Clinical features of Ehler danlos syndrome

Profound joint hyper mobility
Vascular fragility with ease of bruising
Joint instability
Scoliosis (twisting of the spine)


Treatment of Ehler Danlos syndrome

Bony surgery may be required for dislocating joints (however bleeding can be a problem and wound healing can be poor)


Why do neuromuscular disorders occur?

Occur due to deficient or abnormal motor neurone signalling.
Could be a defect in the brain, spinal cord, peripheral nerve or muscle.


What is cerebral palsy?

Occurs due to insult to the immature brain before, during or after birth.


What causes cerebral palsy?

Genetic problems, brain malformation, intrauterine infection, prematurity, intracranial haemorrhage, hypoxia during birth, meningitis.


How does cerebral palsy present?

Expression of disease depends on the part of the brain that is involved- signs can be limited to one limb or can have total body involvement often along with learning difficulties.


When does cerebral palsy present?

Onset before 2-3 years.


What is spina bifida?

Failure of the two halves of the vertebral arch to fuse in the first 6 weeks of gestation.


How does spina bifida present?

Varies in severity from spina bifida occulta (no associated problems) to spina bifida cystic (contents of the vertebral canal herniate through the meninges.


What is polio?

Viral infection affecting the motor anterior horn cells in the spinal cord or brainstem resulting in a lower motor neurone defecit.


How does polio get into the person?

Enters via the GI tract which causes a flu like illness and paralysis will affect `a group of muscles within 2-3 days.


What can polio cause?

Can cause temporary paralysis or long term muscle weakness. Also can cause joint deformities and growth defects.


What is an obstetric brachial plexus palsy?

Injury to the brachial plexus during delivery.


What situations can bring about a brachial plexus palsy?

Most commonly arises in large babies, twin deliveries, and shoulder dystocia (compression of the shoulder on the pubic symphysis).


What is the most common type of brachial plexus palsy and from which nerve roots does it arise?

Erbs palsy
Nerve roots C5 and C6 become injured.


What does Erbs palsy result in?

Results in loss of innervation of the deltoid, supraspinatous, infraspinatous, biceps and brachiallis muscle.
This all leads to internal rotation of the humerus.


How is Erbs palsy treated?

Physiotherapy is required to prevent contractures early on.


How is prognosis of Erbs palsy predicted?

Return of the biceps function by 6months.


What other sort of palsy can you get with obstetric brachial plexus palsy?

Klampke's palsy


What is Klampke's palsy and what nerve roots are damaged?

C8 and T1 are damaged by forceful adduction. It results in paralysis of the intrinsic hand muscles and the finger and wrist flexors. (can also cause Horners syndrome due to the disruption of sympathetic ganglion in T1)


How does Klampke's palsy present? How many recover from it?

Flexed fingers.
Less than 50% recover.


Describe the flow of alignment in normal limb development.

When you are first bone you are slightly varus. At 14 months you become neutral. At 3 years you become 10-15 degrees valgus and then by 7-9 you become physiologically 6 degrees valgus.


What is varus and valgus?

Varus- bow leggedness
Valgus- knock kneed.


What causes genu varum?

May be due to a growth disorder of the medial proximal tibial physis
Rarer causes include rickets, osteochondroma, traumatic physeal injury and skeletal dysplagia.


What causes genu valgum?

Rickets, endochondromatosis, trauma and neurofibromatosis.


Treatment of genu varum?

May require surgical correction by osteotomy.


Treatment of genu valgum

Excessive abnormalities can be corrected by osteotomy or growth plate manipulative surgery.


What is in-toeing?

Feet point towards the midline when walking or standing.


How is in-toeing exaggerated?

Often exaggerated by running. Parents complain of clumsiness and wearing through shoes quickly.


Causes of in-toeing

Femoral neck anteversion- normally the femoral neck points slightly forward however excess anteversion can cause in-toeing
Internal tibial torsion- the bone can not rotate inwards about its vertical axis
Forefoot adduction


Significance of flat feet

Do not normally reflect underlying pathology. At birth- all feet are flat but as we begin to walk- the muscles of the arch develop.


Categories of flat feet

Can be mobile or fixed.


Mobile flat feet- what causes it, when does it appear, is it pathological?

Flattened medial arch forms with dorsiflexion of the big toe (bringing the big toe up makes the arch appear).
It is caused by ligamentous laxity- could be idiopathic or familial.
It is a normal variant and no treatment is required.


Fixed flat feet- what causes it, when does it appear, is it pathological?

Arch remains flat regardless of load or great toe dorsiflexion.
It implies an underlying bony abnormality (tarsal coalition- bones of the hindfoot have an abnormal bony or cartilaginous connection. Could also represent underlying inflammatory disorder.


Curly toes- pathological? treatment needed?

Minor overlapping of toes is common and most correct without intervention.
May only require surgical intervention in serious cases.


What is developmental delay of the hip (DDH)?

Involves dislocation or subluxation during the perinatal period which affects the subsequent development of the hip joint.


Who is likely to get DDH?

Girls account for 80%. More common in the left hip however most cases are bilateral.


What happens if DDH is left untreated?

The acetabulum is very shallow and in some severe cases a false acetabulum occurs proximal to the original one with a shortened limb.
Severe arthritis can occur at a young age due to reduced contact area and gait and mobility can be affected.


Signs of DDH

Shortening of the limb
Asymmetric groin/thigh skin crease
Click or clunk on Ortalani or Barlows test (ortolan involves abduction and anterior displacement. Barlows involves flexion and posterior displacement)


What investigations would you do if you suspect DDH?

Ultrasound because X-rays cannot be used due to the femoral head being un-ossified at this age.


Treatment of DDH

Mild cases- slightly shallow acetabulum and mildly dislocateable. Need close observation and regular ultrasounds.
Severe- dislocated or persistently unstable joints are reduced and held with a special harness known as Pavlik harness- ables flexion and abduction however maintains the reduction of the hip joint.
Children >18 months with persistent dislocation- open reduction likely to be required. Child may also need osteotomy (surgical cutting of bone) to shorten and rotate the femur.


What is transient synovitis of the hip?

Self limiting infection of the synovial of a joint- most commonly the hip.


When does transient synovitis come on?

Most commonly occurs after a URTI however can have no obvious cause.


Presentation of transient synovitis

Limp or reluctance to weight bear.
Range of motion may be restricted.
Child may have a low grade fever however isn't systemically unwell.


Differential diagnosis of transient synovitis?

Septic arthritis- CRP is generally more raised in this and the clinical picture is different.
Perthes disease- X-rays will show its not this.


If there is doubt about the cause of the hip pain in DDH what would you do?

Aspiration of the hip under anaesthetic or open surgical drainage to limit cartilage damage from potential bacterial infection.


Treatment of transient synovitis of the hip

Course of NSAIDs and rest. Pain usually subsides within a few weeks. If there isn't resolution then look for an alternative diagnosis.


What is Perthes disease?

Idiopathic osteochondritis of the femoral head. The femoral head transiently loses blood supply resulting in necrosis with subsequent abnormal growth. It may collapse or fracture. Subsequent remodelling occurs however the congruence of the joint depends on age of onset (the older the worse).


Who does Perthes disease usually effect?

Young boys, particularly those who are active and have a short stature.


What are the risk factors of incongruent joints in perthes disease?

Lead to early onset arthritis and in severe cases may require hip replacements in adolescents.


Presentation of Perthes disease?

Pain and a limp
Most cases unilateral
Loss of internal rotation
Loss of abduction
Positive trendelenburg test for gluteal weakness.


Treatment of Perthes disease

No specific treatment other than regular X-rays and avoidance of physical activity.
Occasionally the femoral head will sublux (partially dislocate) requiring an osteotomy of the femur or acetabulum.


What is slipped upper femoral epiphysis?

The femoral epiphyses slipped inferiorly in relation to the femoral neck. In the condition the growth plate cannot support the weight so the epiphyses slips under the strain.


Who does SUFE usually occur in?

Overweight pre-pubertal adolescent boys.


What are risk factors for SUFE?

Hypothyroidism or renal disease predispose.


Presentation of SUFE

May be acute, chronic or acute on chronic.
Pain may be felt in the groin
Patients can present with purely knee pain- due to the obturator nerve supplying both joints.
Loss of internal rotation of the hip


Why do you need two views on Xray to diagnose SUFE?

Need lateral view also because Xray changes may be subtle.


Treatment of SUFE

Urgent surgery to pin the femoral head.
Some may need hip replacements in adolescents.
Chronic severe slips may require osteotomy.


What is apophysitis?

Inflammation of the growing tubercle where a tendon attaches.


Where is apophysitis likely to occur?

At either end of the patella tendon due to repetitive strain.


Name the two apophysis, where they occur and which is more common.

Osgood- Schlatters disease- inflammation on the tibial apophysis. This is more common
Sinding Larsen Johanssen disease- inflammation at the inferior pole of the patella.


Treatment of apophysitis

Self limiting- require rest (with or without physio therapy)


What is jumpers knee? How is it treated?

Patellar tendonitis (inflammation of the patella tendon)
Self limiting- Need rest with possible physiotherapy


What are the causes of adolescent anterior knee pain?

Muscle inbalance
Ligamentous laxity
Subtle skeletal predisposition (genu varum, wide hips, femoral neck anteversion)
Softening of the hyaline cartilage of the patella (chondromalacia patella)
Osteochondritis dissecans
Meniscal tears
Patella instability


What is the treatment for adolescent anterior knee pain?

Majority of cases they are self limiting so the mainstay of treatment is physic to rebalance the muscles.
Most patients grow out of it.
Occasionally resistant cases will require surgery to shift the forces on the patella (tibial tubercle transfer).


What is patella instability?

Patella is prone to recurrent dislocation (often laterally).


What causes patella instability?

May be related to trauma (a tear in the medial patellofemoral ligament).
Predisposed by ligamentous laxity and variations in bony anatomy.


What is the issue with patella instability?

Dislocations may cause osteochondral fracture with a fragment of hyaline cartilage (with or without a bony element) breaking off.
Small fragments may need to be retrieved whereas large fragments may be reattached.


If you have already had patella dislocation, how likely are you to get it again?

20% of people go on to have another one.


What is osteochondritis dissecans?

Osteochondritis where a fragment of hyaline cartilage breaks off the surface of a joint (with or without subchondral bone)


Where is the most common site and which bony feature is the most likely to have osteochondritis dissecans?

The knee is the most common joint and the medial femoral condyle is the most likely site.


How does osteochondritis dissecans present?

With poorly localised pain, effusion and occasionally locking.


What investigations would you use into osteochondritis dissecans?

Defects are difficult to view on Xray so you may need MRI.


What complications can occur due to osteochondritis dissecans?

The 'pothole' left in the bone predisposes to OA.


What are meniscal tears? Would you repair them?

A tear in the meniscus (cartilage).
Young patients have an increased chance of healing with a meniscal tear.


What is talus equinovarus?

Clubfoot- in utero the child has had abnormal alignment of the talus, calcaneous and navicular.


How common is talus equinovarus?

Occurs in 1 in 800 births. 50% of these have bilateral feet affected.


Risk factors for talus equinovarus

Breech position makes it more likely to occur.
Oligohydramnios (low amniotic fluid) also makes it more likely.
Boys are more commonly affected than girls.


Describe the abnormal alignment in talus equinovarus?

Plantar flexion (ankle equinus) of the ankle
Suppination of the forefoot
Varus alignment of the forefoot.


How would you treat talus equinovarus?

Condition is treatable with early splintage- Use the Ponseti splintage technique. Alignment corrected progressively. Child is put into a cast for 5 to 6 weeks then realigned. Most (80%) kids will need a procedure done to their achilles tendon to get complete alignment.
After they are fully aligned- child has to wear boots attached to a bar for 23 hours a day to maintain alignment.
Delayed presentations can lead to fixed deformities that require surgery.


What is tarsal coalition?

When some of the bones of the hind foot have abnormal connections. It is usually between the calcaneous and the navicular or the calcaneous and the talus.


What symptoms may tarsal coalition cause? How would you treat it?

May cause painful flat feet.
Splintage/orthotics may improve the symptoms. However resistant cases may require surgery.


What is hallux valgus?
When does it occur?
Is there a genetic element?

Bunions (big toe points laterally forming a bony projection on the medial aspect of the forefoot).
Can occur in late adolescents
Strong FH.


Treatment of hallux valgus?

Can be surgically corrected however recurrence usually happens if adolescents are treated.


What is a red flag in children?

Back pain


What is scloliosis? What causes it?

Abnormal lateral curvature of the spine (generally also a rotational deformity)
Can be idiopathic but also can be secondary to neuromuscular disease, infection, tumour or skeletal dysplagia.


Who normally gets scoliosis?

Generally presents in adolescents (with concerns regarding cosmetic appearance).
More common in females.


Red flag in scoliosis?

Painful scoliosis warrants urgent investigation (MRI for tumour/infection).


Treatment of scoliosis

Mild, non-progressive scoliosis does not require surgery.
Larger curves may require surgery to improve cosmetics or wheelchair posture.
Severe curves may cause a restrictive lung defect- so need to be operated on to stop breathing difficulties.


What is spondylolithesis? where does it usually occur?

Slippage of the vertebrae over another.
L4/L5 or L5/S1


What causes spondylolithesis?

Could be due to a developmental defect or recurrent stress fractures.


Who usually gets spondylolithesis?

Usually presents in adolescents. Increased body weight and increased sporting activities pre-empt it.


How do patients present with spondylolithesis?

Lower back pain and some have radiculopathy (nerve compression at root causing loss of function)
Flat back due to muscle spasm
Waddling gait (acutely)


Treatment of spondylolithesis?

Mild slippage- observed and treated with physiology and rest
Severe slips- may require stabilisation and reduction.