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What is osteogenesis imperfecta?

-brittle bone disease
-defect of maturation of type 1 collagen


How is oesteogenesis imperfecta inherited?
-what are other clinical features?

The majority of cases are autosomal dominant with multiple fragility fractures of childhood, short stature with multiple deformities, blue sclerae and loss of hearing. Rarer cases are autosomal recessive and are either fatal in the perinatal period or associated with spinal deformity.


What doe the bones look like in osteogenesis imperfecta? how is this managed?

Bones tend to be thin (gracile) with thin cortices and osteopenic. Mild cases may have relatively normal xrays with history of low energy fractures.

Fractures tend to heal with abundant but poor quality callus and are treated with splintage, traction or surgical stabilization.


What are skeletal dysplasias?

short stature (dwarfism)
-genetic error
-proportionate or disproportionate


What is the most common skeletal dysplasia?

-80% sporadic
-may be autosomal dominant

Achondroplasia results in disproportionately short limbs with a prominent forehead and widened nose. Joints are lax and mental development is normal.


What connective tissue disorders exist in orthopaedics?

-generalised (familial) joint laxity
-ehlers danlos syndrome
-down syndrome


What is generalised (familial) joint laxity?
-what are they more prone to?

Around 5% of normal people have hypermobility of the joints which usually runs in families and is inherited in a dominant manner. Patients may describe themselves as “double‐jointed” and be able to perform tricks as a party piece (eg voluntary dislocation of the shoulder).
-batons/brightons score

People with generalized ligamentous laxity are more prone to soft tissue injuries (ankle sprains) and recurrent dislocations of joints (especially shoulder and patella) which may be painful.


What is marfan's syndrome?

Marfan’s syndrome is an autosomal dominant or sporadic mutation of the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity.


What are the assoc symptoms of marfans syndrome?

Associated features include a high arched palate, scoiliosis, flattening of the chest (pectus excavatum), eye problems (lens dislocation, retinal detachment), aortic aneurysm and cardiac valve incompetence. Cardiac abnormalities may result in premature death.


Do patients with marfans disease require surgery?

Patient’s rarely require orthoapedic surgery (scoliosis and bony procedures for joint instability eg fusions) and soft tissue stabilization of dislocating joints usually has disappointing results as the biological abnormality cannot be corrected.


What is ehlers-danlos syndrome?

This is a heterogeneous condition which is often autosomal dominantly inherited with abnormal elastin and collagen formation.


What are the clinical features of ehlers-danlos syndrome? Why would orthopaedic surgery be used?

linical features include profound joint hypermobility, vascular fragility with ease of bruising, joint instability and scoliosis.

Bony surgery may be required for dislocating joints however bleeding can be a problem and skin healing can be poor with stretched scars or wound dehiscence common.


what are the MSK manifestations of down syndrome?

Musculoskeletal manifestations of Trisomy 21 include short stature and joint laxity with possible recurrent dislocation (especially patella) which may require stabilization.


What are muscular dystrophies?

These are rare and usually X‐linked recessive hereditary disorders (therefore only affecting boys) resulting in progressive muscle weakness and wasting.


What is duchenne muscular dystrophy?

A defect in the dystrophin gene involved in calcium transport results in muscle weakness which may only be noticed when the boy starts to walk with difficulty standing (Gower's sign) and going up stairs.


What is the natural progression of duchenne muscular dystrophy?

Progressive muscle weakness follows and by the age of 10 or so he can no longer walk and by age 20 progressive cardiac and respiratory failure develop with death typically in the early 20s.


What is the diagnosis of duchenne muscular dystrophy?

Diagnosis is confirmed by raised serum creatinine phosphokinase and abnormalities on muscle biopsy. Physiotherapy, splintage and deformity correction may prolong mobility. Severe scoliosis may be corrected by spinal surgery.


What is cerebral palsy?

Cerebral Palsy (CP) is a neuromuscular disorder with onset before 2‐3 years of age due to an insult to the immature brain before, during or after birth.


What are the causes of cerebral palsy?

Causes include genetic problems, brain malformation, intrauterine infection in early pregnancy, prematurity, intra‐cranial haemorrhage, hypoxia during birth and meningitis. Only 1 in 10 cases are due to problems during labour (contrary to popular belief) whilst often there is no identifiable cause or explanation.


What is the severity of cerebral palsy?

The expression of the disease and its severity are variable depending on the area of the brain affected ranging from mild symptoms and signs limited to one limb or total body involvement with profound learning difficulties.

Developmental milestones may be missed and the ability to ambulate or perform normal tasks may be impaired.


What is the commonest expression of cerebral palsy?

spastic CP occurring in 80% of cases with injury to the motor cortex, upper motor neurons or corticospinal tract resulting in weakness and spasticity which may worsen as the child grows.


What, other than spastic CP, types of CP exist?
-how many limbs can CP affect?

-Ataxic (which affects the cerebellum) which reduces co‐ordination and balance

-Athetoid (affecting the extrapyramidal motor system, the pyramidal tract and basal ganglia) which results in an uncontrolled writhing motion, sudden changes in tone and difficulties controlling speech.

CP can affect one limb (monoplegic), one ipsilateral upper and lower limb (hemiplegic – the most common), both legs only (diplegic) and all 4 limbs usually with learning difficulties (total body involvement).

Developmental milestones may be delayed in young children.


What MSK problems can CP cause?

Musculoskeletal problems which can develop include joint contractures, scoliosis and hip dislocation (non‐congenital).


What is the non-surgical treatment of CP?

Non‐surgical treatment for CP includes:
-physiotherapy and splintage (orthotics) to prevent contractures

-baclofen (which can be given by injection intrathecally in the subarachnoid space to allow a lower dose and fewer side effects) to reduce spasticity

-Botox injection into spastic muscles.


What is the surgical treatment of CP?

Surgical treatments include hip excision or replacement to treat painful hip dislocation and subsequent problems with wheelchair sitting, surgical release of joint contractures, correction of severe scoliosis, joint fusions and tendon transfers.


What is spina bifida?

Spina bifida is a congenital disorder where the two halves of the posterior vertebral arch fail to fuse, probably in the first six weeks of gestation.


What is the mildest form of spina bifida? what does this cause?

spina bifida occulta, there may be no associated problems but some can develop tethering of the spinal cord and roots which can cause a high arched foot (pes cavus) and clawing of the toes. Neurological symptoms however can occur at any age. Some have a tell‐ tale dimple or tuft of hair in the skin overlying the defect.


What is the most severe form of spina bifida?

spina bifida cystica
-the contents of the vertebral canal herniate through the defect with either herniation of the meninges alone (a meningocele) or with the spinal cord or cauda equina.

-A meningocele is not usually associated with neurological sequelae but a myelomeningocle usually has a neurological deficit (motor and sensory) below the lesion and most will never function independently.

Spina bifida cystica may be associated with hydrocephalus (excess CSF around the brain raising intracranial pressure) and the degree of disability depends on the spinal level affected.


How is spina bifida cystica managed?

With spina bifida cystica the defect is usually closed with 48 hours of birth (to prevent drying or infection).

Hydrocephalus may be treated with a shunt from the ventricles of the brain to either the right atrium, pleural cavity or peritoneal cavity at a few weeks of age. Spinal deformity and hip dislocation are also common and contractures can occur.

Orthopaedic surgical management includes scoliosis correction, reduction and containment procedures for the hip, contracture released and correction of foot deformities. Avoidance of pressure sores and good foot care is important to prevent ulcers and sores which can get infected


What is polio?

Polio (or poliomyelitis) is a viral infection which affects motor anterior horn cells in the spinal cord or brainstem resulting in a lower motor neurone deficit.

Vaccination has eradicated new cases of polio in modern healthcare systems however older patients with long term effects of childhood polio are occasionally encountered.


What are the clinical features of polio?

The virus enters via the GI tract with a flu‐like illness and a variable degree of paralysis usually affecting a group of muscles of one limb within 2‐3 days. Some affected motor neurons recover with recovery of weakness however residual paralysis can occur. Joint deformities and growth defects can occur with shortening of the limb. Sensation is preserved.


What is the treatment of polio?

Treatment of residual paralysis can be treated with splintage (caliper, orthotics) and shortening of a leg can be helped with a shoe raise. Tendon transfers may improve function whilst some deformities especially of the foot or ankle can be treated with fusion (arthrodesis) to provide a better platform for ambulation. Flail joints may also be treated with arthrodesis in a position of maximal function and shortening can be treated with lengthening of the short side or shortening of the long side.


What is erb's palsy?

This is the commonest type of obstetric brachial plexus palsy

-injury to the upper (C5 & C6) nerve roots resulting in loss of motor innervation of the deltoid, supraspinatus, infraspinatus, biceps and brachilais muscles

-This leads to internal rotation of the humerus (from unopposed subscapularis) and may lead to the classic waiter’s tip posture.


What is the treatment of erb's palsy?

Physiotherapy is required to prevent contractures early on and prognosis is predicted by the return of biceps function by 6 months with good outcome in 80‐90% of cases.

Surgical release of contractures and tendon transfers may be required if no recovery.


What is klumpkes palsy?

Klumpke’s palsy is much rarer and is a lower brachial plexus injury (C8 &T1 roots) caused by forceful adduction which results in paralysis of the intrinsic hand muscles +/‐ finger and wrist flexors and possible Horner’s syndrome (due to disruption of the first sympathetic ganglion from T1).

The fingers are typically flexed (due to paralysis of the interossei and lubricals which assist extension at the PIP joints).


What is the prognosis of klumpkes palsy? What is the treatment?

The prognosis is poorer than for Erb’s palsy with less than 50% recovery and there is no specific treatment.


Describe the development of knee alignment in children

Children at birth normally have varus knees (bow legs) which become neutrally aligned at around 14 months, progressing to 10 to 15° valgus (knock knees) at age 3 and then gradually regress to the physiologic valgus of 6° by around the age of 7‐9.


What is pathological varus or valgus?

Considerable variation exists and the normal range varies by around. Pathological varus or valgus is where alignment is considered outside the normal range (+/‐ 6° from mean value for age). Measurements can be taken on xrays and charted against normal reference ranges.


What is the treatment for genu varum or genu valgum?

A valgus deformity at the knee will result in a more of a knock knee appearance with a larger gap than normal between the feet/ankles.
A varus deformity will result in a larger gap between the knees.

The majority of cases of bow legs or knock knees will resolve by the age of 10 but genu varum or excessive genu valgum after the age of 10 may require surgery.


What is blounts disease?

This is a growth disorder of the medial proximal tibial physis
-results in marked and persisting (beyond 4‐5 years) varus deformity.
-This may require surgical correction by osteotomy.

The condition can also occur in adolescence where growth plate restriction on the medial side with a small plate and screws may be required


What, other than blounts disease, can cause genu varum?

Other rarer causes of pathologic genu varum include rickets, tumour (osteochondroma), traumatic physeal injury and skeletal dysplasia. Persistent bow legs are at risk of early onset medial compartment osteoarthritis.


What are causes of genu valgum?

rickets, tumours (enchondromatosis), trauma and neurofibromatosis whilst some cases are idiopathic. Again excessive deformities can be corrected by osteotomy or growth plate manipulation surgery.


what is in-toeing?

In‐toeing refers to a child who, when walking and standing will have feet that point toward the midline. The abnormality is often exaggerated when running and children are felt by their parents to be clumsy and wear through shoes at an alarming rate.


What are three causes of intoeing?

Femoral neck anteversion – as part of normal anatomy the femoral neck is slightly anteverted (pointing forwards). Excess femoral neck anteversion can give the appearance of in‐toeing (as well as knock knees). However the degree of apparent in‐toeing is not of a magnitude which would warrant surgical intervention.

Internal tibial torsion – the bone can be rotated inward about its vertical axis but as this is a normal variation, it should ignored.

Forefoot adduction – can cause the apparent in‐toeing. There remains debate about whether surgery is useful in cases which persist after 7 or 8 years of age. Certainly surgery should not be considered before this age as the majority resolve in time.


What are flat feet?

Flat feet are part of normal variation and usually do not reflect underlying pathology. At birth all feet are flat, as we begin to walk and the muscles develop the arch will also develop. Some children continue to have flat feet which persist into adulthood without any functional problem.


What is important to determine with flat feet?

The key is to determine if the flat feet are mobile or fixed. Mobile/flexible flat feet are those where the flattened medial arch forms with dorsiflexion of the great toe (Jack test). Flexible flat footedness may be related to ligamentous laxity, may be familial or may be idiopathic. The flat footedness may only be dynamic (present on weight bearing only). Flexible flat‐footedness in children is a normal variant. Medial arch support orthoses are not required. (In adults mobile flat foot may be related to tibialis posterior tendon dysfunction – see later).

In the rigid type of flat footedness the arch remains flat regardless of load or great toe dorsiflexion. This implies there is an underlying bony abnormality (tarsal coalition where the bones of the hindfoot have an abnormal bony or cartilaginous connection) which may require surgery. It also may represent an underlying inflammatory disorder or a neurological disorder.


What are curly toes?

Minor overlapping of the toes and curling of toes is common with the fifth toe is most frequently affected. Again most will correct without intervention but they can occasionally cause discomfort in shoes and persistent cases in adolescence may require surgical correction.


What is Developmental Dysplasia of the Hip (DDH)

DDH involves dislocation or subluxation of the femoral head during the perinatal period which affects the subsequent development of the hip joint.


What are the risk factors for DDH?

Risk factors include positive family history of DDH, breech presentation, first born babies, Down’s syndrome and the presence of other congenital disorders (talipes, arthrogryposis).
-more commonly left hip and girls


What happens if DDH is left untreated?

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


How is DDH diagnosed?

Signs of DDH include shortening, asymmetric groin/thigh skin creases and a click or clunk on the Ortolani or Barlow manoeuvres. Unstable hips with a positive Ortolani test (reducing a dislocated hip with abduction and anterior displacement) or Barlow test (dislocatable hip with flexion and posterior displacement) require further evaluation with ultrasound which should detect a dislocated hip, an unstable hip or a shallow acetabulum.
-can't do xray bc bones don't ossify until 4-6mths


what is the treatment for DDH?

-Mild cases are observed
-dislocated/persistently unstable = pavlik harness
-persistent dislocation over 18 months old open reduction is much more likely to be required and the acetabulum is likely to be very shallow by this stage. - poorer prognosis


How is a pavlik harness used?

The Pavlik harness is used full‐time for around 6 weeks and part‐time for a further 6 weeks once the hip is confirmed to be stable. A Pavlik harness can be used up to around 4‐6 months of age and the success rate is 85‐95%.


What is transient synovitis of the hip?

-self limiting inflammation of the synovium of the joint (most commonly hip)
-commonly after URTI
-2-10 years
-boys more common
-commonest cause of hip pain in children


What is the presentation of transient synovitis of the hip?

limp or reluctance to weight bear on the affected side.

Range of motion may be restricted (but not as much pain or loss of motion as septic arthritis).

The child may have a low grade fever but is not systemically unwell or septic.


What do you have to exclude with transient synovtis of the hip?

septic arthritis, Perthes disease and Juvenile Idiopathic Arthritis or Rheumatoid arthritis must to be excluded.


What is the investigation of transient synovitis of the hip?

Radiographs can exclude Perthes disease whilst a normal or near normal CRP and a clinical picture more suggestive of transient synovitis may exclude septic arthritis.

If there is any doubt aspiration of the hip under anaesthetic or open surgical drainage may be performed to limit cartilage damage from potential bacterial infection.

MRI may also be useful in equivocal cases as osteomyelitis of the proximal femur is a further possible diagnosis.


What is the treatment of transient synovitis of the hip?

Treatment is with a short course of NSAIDs and rest. Pain generally resolves within a few weeks but if there is no resolution then another cause for hip pain (JIA, early Perthes) should be sought.


what is perthes disease?
-when does this occur?
-who is affected?

idiopathic osteochondritis of the femoral head which usually occurs between the ages of 4 to 9 and is more common in boys (around 5:1), particularly very active boys of short stature.


What is the pathogenesis of perthes disease?

The femoral head transiently loses its blood supply resulting in necrosis with subsequent abnormal growth.

The femoral head may collapse of fracture.

Subsequent remodeling occurs however the shape of the femoral head and congruence of the joint is determined by age of onset (with older children faring worse) and the amount of collapse.


What can perthes lead to?

In incongruent joint will lead to early onset of arthritis and severe cases may require hip replacement in adolescence or early adulthood.


How can perthes disease present?

Affected children present with pain and a limp. Most cases are unilateral and bilateral cases may represent an underlying skeletal dysplasia or a thrombophilia.

Loss of internal rotation is usually the first clinical sign followed by loss of abduction and later on a positive Trendellenburg test from gluteal weakness.


What is the management of perthes disease?

There is no specific treatment other than regular xray observation and avoidance of physical activity.

Approximately 50% of cases do well. In some cases the femoral head becomes aspherical, flattened and widened. The lever arm of the abductor muscles is altered resulting in weakness (Trendellenburg positive).

Occasionally the femoral head may sublux (partially dislocate) requiring an osteotomy of the femur or acetabulum.


What is a SUFE?

Slipped Upper Femoral Epiphysis is a condition mainly affecting overweight pre‐pubertal adolescent boys where the femoral head epiphysis slips inferiorly in relation to the femoral neck. Girls are less commonly affected and hypothyroidism or renal disease may predispose to SUFE.


What is the pathogenesis of SUFE?

In the condition, the growth plate (physis) is not strong enough to support body weight and the femoral epiphysis slips due to the strain. A growth spurt may preclude the onset and puberty may be delayed (idiopathic or hypothyroidism). 1/3 of cases are bilateral.


How can SUFE present? What are the xray changes of SUFE?

Cases can be acute (sudden onset), chronic or acute‐on‐chronic.

Patients have pain and a limp.

The pain may be felt in the groin (like other hip pathology) however the major pitfall is that patients can present purely with pain in the knee (due to the obturator nerve supplying both the hip and knee joint) and the diagnosis can be missed as an unwary clinician may fail to examine the hip, concentrating solely on the knee and treat as a benign knee condition.

Loss of internal rotation of the hip is the predominant clinical sign.

Xray changes may be subtle and a lateral view must be obtained to detect mild degrees of slip.


What is the treatment of SUFE?

The treatment of SUFE is urgent surgery to pin the femoral head to prevent further slippage.

The greater the degree of slip the worse the prognosis and some cases may require hip replacement in adolescence or early adulthood.

The prognosis for mild slips is usually favourable.

For severe acute slips gentle manipulation may be attempted but this risks avascular necrosis.

Chronic severe slips may require an osteotomy.


What is patellar tendonitis?

Knee extensor mechanism pain is a fairly common occurrence during adolescence as body weight increases and sporting activities increase. Patellar tendonitis (jumper’s knee) can occur which is self‐limiting and requires rest and possibly physiotherapy


What is apophysitis?

inflammation of a growing tubercle where a tendon attaches
-this can occur at either side of patellar tendon due to repetitive strain


What are the two apophysitis found in the knee?

Inflammation of the tibial tubercle apophysis is more common and is known as Osgood‐Schlatter’s disease.

Inflammation of the inferior pole of patella is known a Sinding‐Larsen‐Johanssen disease.

These are self‐limiting conditions requiring rest +/‐ physiotherapy. Patients may be left with a bony prominence which does not require surgery.


What is patellofemoral dysfunction?

Anterior knee pain (patellofemoral dysfunction) is common in adolescence, especially in girls. The aetiology is unclear and may be due to muscle imbalance, ligamentous laxity and subtle skeletal predisposition (genu valgum, wide hips, femoral neck anteversion). There may be softening of the hyaline cartilage of the patella (chondromalacia patellae).


What is the treatment of patellofemoral dysfunction?

The majority of cases are self‐limiting and the mainstay of treatment is physiotherapy to rebalance the muscles. Most patients “grow out” of the condition. Occasionally resistant cases may require surgery to shift the forces on the patella (known as a tibial tubercle transfer) however the results can be unpredictable.


Patellar instability - what can this be related to?
-what can predispose to this?

Dislocation and subluxation of the patella is most common in adolescence and may be related to trauma with a tear in the medial patellofemoral ligament and may be predisposed to by ligamentous laxity and varitions in bony anatomy (shallow femoral trochlea, valgus, hip anteversion).


What is the treatment of disolocation of the patellar?
-what is the natural history of patellar dislocation

Dislocations may cause osteochondral fracture with a fragment of hyaline cartilage with or without subchondral bone breaking off. Small fragments may need retrieved by arthroscopic surgery whilst larger fargments may be fixed.

20% of first time dislocations go on to have a second episode of dislocation and 10% have multiple dislocations. Many patients “stabilize” as they grow older and physiotherapy may help. Recurrent dislocation may require surgery to correct any bony predisposition or to reconstruct the medial patellofemoral ligament.


What is osteochondritis dissecans? which is the most common joint affected? when does this occur?

This is an osteochondritis where a fragment of hyaline cartilage with variable amount of bone fragments and breaks off the surface of the joint.
-The knee is the most common joint affected with the medial femoral condyle the most common site.
-The condition usually occurs in adolescence but can occur later in adulthood.


What is the presentation of osteochondritis dissecans?

Patients present with poorly localized pain, effusion and occasionally locking. Defects can be difficult to see on standard xrays and may require special views or MRI to diagnose. A quarter of cases are bilateral.


What can osteochondritis dissecans lead to?

OCD can result in loose bodies within the knee joint and a “pothole” on the surface which predisposes to osteoarthritis. Lesions which are at risk of breaking off (with fluid signal behind them on MRI) may be fixed and loose fragments may require removal.


What is talipes equinovarus?

-congenital deformity of the foot affecting 1 in 800 births and is due to in utero abnormal alignment of the joints between the talus, calcaneus and navicular.
-Around 50% of cases are bilateral.


What does club foot result in?

The abnormal alignment of these joints results in contractures of the soft tissues (ligaments, capsule & tendons) resulting in a deformity consisting of ankle equinus (plantarflexion), supination of the forefoot and varus alignment of the forefoot which are not immediately correctable


What are the risk factors for clubfoot?

Boys are twice as commonly affected than girls, there may be a genetic link with a positive family history and it is more common in breech presentation. Oligohydramnios (low amniotic fluid content) is another risk factor and it is occasionally part of another skeletal dysplasia.


How is clubfoot treated?

early splintage and diagnosis is usually obvious however delayed presentations (uncommon in modern healthcare systems) can result in fixed deformity with the child walking on the outside of their foot. Late deformity is very difficult to correct and requires extensive surgery (soft tissue +/‐ bony procedures) with less satisfactory results. Surgery may also be required for cases resistant to splintage.


What is the splintage technique for clubfoot?

The technique of splintage, known as the Ponseti technique, is commenced as soon as possible after birth and the deformities are corrected progressively in stages and held in plaster casts with 5 or 6 weekly cast changes. 80% of children require a tenotomy of the Achilles tendon (a minor procedure) to maintain full correction. Once full correction is achieved the child is then placed in a brace consisting of boots attached to a bar which is worn 23 hours a day for 3 months and used during sleep until the age of 3 to 4 to try to prevent recurrence.