Disease Profiles: Growth and Developmental Disorders Flashcards
What is osteochondritis dissecans?
An area of the surface of the knee loses its lood supply and cartilage +/- bone can fragment off
What is transient synovitis?
Self-limiting inflammation of the synovial of a joint, most commonly the hip
Name two tests for developmental dysplasia of the hip
Barlow’s test, Ortolani’s test
Name 3 signs of developmental dysplasia of the hip
Asymmetry, loss knee height, less abduction in flexion
What patient group is most likely to develop transient synovitis?
Typical age is between 2 and 10, boys are more commonly affected than girls
How can you identify a fracture of the growth plate?
Epiphysis will not be centred on the metaphysis
What is Duchenne Muscular Dystrophy?
Rare x-linked disorder that leads to progressive muscle wasting
When may a baby with developmental dysplasia of the hip present?
Neonatal baby checks, selective US screening, 6-8 week GP check, when starts to walk (late presentation)
What is Erb’s palsy?
Most common type of obstetric brachial plexus palsy involving injury to the upper (C5 + C6) nerve roots
Motor innervation of the deltoid, supraspinatus, infraspinatus, biceps and brachilais muscles is lost
What is skeletal dysplasia?
Medial term for short stature
At what age does a child’s knees reach their normal physiological valgus of 6°?
7-9 years
What is Klumple’s palsy?
Lower brachial plexus injury (C8 + T1 roots) caused by forceful adduction
Results in paralysis of the intrinsic hand muscles +/‐ finger and wrist flexors and possible Horner’s syndrome
What is Barlow’s test?
Test for developmental dysplasia - flex and adduct the hip, sign is positive if hip dislocates posteriorly
Which patient group is most likely to develop osteochondritis dissecans?
Most common in adolescence
Describe the clinical presentation of Klumple’s palsy
Fingers are typically flexed (due to paralysis of the interossei and lubricals)
What feature of normal anatomy may give the appearance of slight in-toeing?
Excess femoral neck anteversion (pointing forward)
Why are children more amenable to conservative fracture management?
Increased modelling potential
What is mixed hip impingement?
Combination of CAM and pincer type
Describe the examination findings of a child with Perthes disease
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
Describe the clinical presentation of autosomal recessive osteogenesis imperfecta
Either fatal in the perinatal period or associated with spinal deformity
What is developmental dysplasia of the hip?
Involves dislocation or subluxation of the femoral head during the perinatal period which affects the subsequent development of the hip joint
Describe the management of patellar tendonitis
Self‐limiting, requires rest and possibly physiotherapy
What is Ortolani’s test?
Test for developmental dysplasia - flexion and abduction reduces femoral head into acetabulum
By what age do the majority of cases of bow legs or knock knees resolve?
10
What is Osgood-Schlatter’s disease?
Traction apophysities at tibial tubercle - insertion of patellar tendon into tibial tuberosity
What can cause rigid flat feet?
Underlying bone abnormality, underlying inflammatory or neurological disorder
What is Femoroacetabular Impingement Syndrome (FAI) (Hip Impingement)
Altered morphology of femoral neck and/or acetabular (additional bone growth) which causes abutment of the femoral neck on the edge of the acetabulum during movement
Describe the pathophysiology of Perthes disease
The femoral head transiently loses its blood supply resulting in necrosis with subsequent abnormal growth
Degree of joint collapse and joint remodelling will determine whether the joint remains congruent
Incongruent = early onset arthritis
What is a torus (buckle) fracture?
Crease of the bone and periosteum
Describe the management of osteogenesis imperfecta
No cure - only fracture fixation, surgery to correct deformities, bisphosphonates may have benefit in teenage years
Fractures tend to heal with abundant but poor quality callus and are treated with splintage, traction or surgical stabilization
Describe the management of Perthes disease
No specific treatment other than regular xray observation and avoidance of physical activity
What is osteogenesis imperfecta?
Commonly known as brittle bone disease
Genetic defect of the maturation and organization of type 1 collagen (which accounts for most of the organic composition of bone)
Describe the clinical presentation of transient synovitis
Limp/reluctance to weight bear on the affected side, range of motion may be restricted, may be low grade fever but child is not systemically unwell
Describe the management of late developmental dysplasia of the hip
Closed or open reduction and hip spica
For children 18 months+ more likely to be OR
Describe the surgical management of osteochondritis dissecans
If not yet detached - pin in place
If detached - fix or remove
May consider cartilage regeneration for persistent pain
When may an osteotomy be indicated in Slipped Upper Femoral Epiphysis (SUFE)?
Chronic severe slips
Describe the management of Femoroacetabular Impingement Syndrome
Observation, conservative measures
Surgical options
Why is a USS for developmental dysplasia of the hip less helpful after 3 months?
Osification nucleus begins to develop
Describe the prognosis of Perthes disease
50% of cases do well, can cause abductor muscle weakness (Trendellenburg positive), occasionally the femoral head may sublux requiring an osteotomy
What is club foot (talipes equinovarus)?
Condition in which a newborn’s foot or feet appear to be rotated internally at the ankle
Describe the clinical presentation of autosomal dominant osteogenesis imperfecta
Multiple fragility fractures of childhood, short stature with multiple deformities, blue sclerae, dentinogenesis imperfecta, loss of hearing
Describe the normal knee alignment at birth
Varus knees (bow legs)
What is patellofemoral pain syndrome?
Anterior knee pain which is generally idiopathic, aka idiopathic adolescent anterior knee pain, chondromalacia patellae
Describe the management of patellofemoral pain syndrome
Majority of cases are self-limiting, physio needed to rebalance the muscles
Most patients ‘out grow’ the condition
Resistant cases may require surgery (tibial tubercle transfer)
What is in-toeing?
Refers to a child who, when walking and standing will have feet that point toward the midline
Why do patients with Marfan’s syndrome rarely require orthopaedic surgery and soft tissue stabilisation?
Results usually disappointing as the biological abnormality cannot be corrected
Describe the pathophysiology of Slipped Upper Femoral Epiphysis (SUFE)
The growth plate (physis) is not strong enough to support body weight and the femoral epiphysis slips due to the strain
Why do children’s bones ‘bend or bow’ when they fracture rather than ‘snap and splinter’?
The periosteum of children’s bones is very thick
Name a complication of growth plate injury
Growth deformity
Describe the prognosis of Slipped Upper Femoral Epiphysis (SUFE)
The greater the degree of slip the worse the prognosis and some cases may require hip replacement in adolescence or early adulthood
Where should you immobilise a diaphysial fracture in a child?
Joint immobilised above and below to prevent rotation
What is the preferred investigation for developmental dysplasia of the hip after 4-6 months?
X-ray
Name 2 issues with bone surgery in patients with Ehlers-Danlos syndrome
Bleeding can be a problem, skin healing can be poor
What is the preferred investigation for developmental dysplasia of the hip before 3 months?
USS
Which investigations would you perform in suspected transient synovitis?
Mainly to rule out other causes: x-ray (Perthes disease), CRP (septic arthritis), aspiration of the hip (if still considering septic arthritis), MRI (osteomyelitis of proximal femur)
Name 3 potential causes of genu varum or valgum
Underlying skeletal disorder, physeal injury with growth arrest, biochemical disorder (rickets)
Describe the examination findings in Femoroacetabular Impingement Syndrome
C sign positive, FADIR provocation test positive
Describe the appearance of a valgus deformity
Knock knee appearance with a larger gap than normal between the feet/ankles
Where should you immobilise a metaphyseal fracture in a child?
Adjacent joint immobilised
What is Ehlers-Danlos syndrome?
Heterogeneous condition which is often autosomal dominantly inherited with abnormal elastin and collagen formation
Describe the clinical presentation of Femoroacetabular Impingement Syndrome
Activity related to pain in the groin, particularly in flexion and rotation, difficulty sitting
What can cause mobile flat feet?
May be related to ligamentous laxity, may be familial or may be idiopathic
What causes cerebral palsy?
Insult to the growing brain before, during or after birth e.g. genetic problems, brain malformation, intrauterine infection in early pregnancy
Which patient group is most likely to develop patellofemoral pain syndrome?
Adolescents, especially in girls
Which patient group is most likely develop CAM type hip impingement?
Usually young athletic males, can be related to previous SUFE
Dysfunction of what muscle may be related to mobile flat feet in adults?
Tibialis posterior
What is the Salter-Harris classification used for?
Used to grade growth plate fractures - prognosis is poorer as classification progresses
Describe the prognosis of Duchenne Muscular Dystrophy
May initial be noticed when the boy starts to walk with difficulty standing (Gower’s sign) and going up stairs
Progressive muscle weakness follows and by the age of 10 or so he can no longer walk
By age 20 progressive cardiac and respiratory failure develop with death typically in the early 20s
Describe the clinical presentation of achondroplasia
Disproportionately short limbs with a prominent forehead and widened nose, lax joints, mental development normal
Which patient group is most likely develop pincer type hip impingement?
Females
Describe the management of transient synovitis
NSAIDs and rest, pain should resolve within a few weeks
Which investigations would you perform in suspected osteochondritis dissecans?
X-ray, MRI
Describe the management of Slipped Upper Femoral Epiphysis (SUFE)
Urgent surgery to pin the femoral head to prevent further slippage
When may gentle manipulation be indicated in the management of Slipped Upper Femoral Epiphysis (SUFE)? What is the risk?
For severe acute slips gentle manipulation may be attempted but this risks avascular necrosis
What is the surgical option for management of CAM type impingement?
Arthroscopic/open surgery to remove CAM/debride laral tears
Describe the prognosis of Klumple’s palsy
Prognosis is poorer than for Erb’s palsy with less than 50% recovery and there is no specific treatment
Describe the management of curly toes
Most will correct without intervention but they can occasionally cause discomfort in shoes and persistent cases in adolescence may require surgical correction
Describe the clinical presentation of Erb’s palsy
Internal rotation of the humerus (from unopposed subscapularis) and may lead to the classic waiter’s tip posture
When do the muscles that cause the foot to arch and become less flat develop?
As we begin to walk
Describe the management of Erb’s palsy
Early physiotherapy - good outcome in 80‐90% of cases
Surgical release of contractures and tendon transfers may be required if no recovery from physio
Describe the clinical presentation of Ehlers-Danlos syndrome
Profound joint hypermobility, vascular fragility with ease of bruising, joint instability and scoliosis
Around what age does a child have knee alignment of 10 to 15° valgus (knock knees)?
3 years
Which patient group is most likely to develop Osgood-Schlatter’s disease?
Adolescent active boys
Which patient group are most likely to develop developmental dysplasia of the hip?
Females, breech presentation, first born, > 4kg, multiple pregnancy
What is the surgical option for management of pincer type impingement?
Peri-acetabular osteotomy/debride labral tears
Describe the x-ray findings of a patient with osteogenesis imperfecta
Bones tend to be thin (gracile) with thin cortices and osteopenic, mild cases may be relatively normal
Which form of brachial plexus palsy carries the poorest prognosis?
Total brachial plexus palsy
How would you define pathological varus or valgus?
Alignment is considered outside the normal range (+/‐ 6° from mean value for age)
Describe the pathophysiology of Duchenne Muscular Dystrophy
A defect in the dystrophin gene involved in calcium transport results in progressive muscle weakness
What is cerebral palsy?
A persisting qualitative motor disorder appearing before the age of three years, due to non-progressive damage to the brain occuring before the growth of the central nervous system is complete
Describe the clinical presentation 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
Describe the examination findings in Slipped Upper Femoral Epiphysis (SUFE)
Antalgic gait, loss of internal rotation of the hip
Why can x-ray not be used for early diagnosis of developmental dysplasia of the hip?
Femoral head epiphysis is unossified until around 4‐6 months
Name the weakest part of a developing bone
Growth plate
Which investigation should be performed in Slipped Upper Femoral Epiphysis (SUFE)?
X-ray - AP and lateral
Name three situations which would put a baby at risk of brachial plexus injury during vaginal delivery
Large babies, twin deliveries and shoulder dystocia
Which patient group is most likely to develop Slipped Upper Femoral Epiphysis (SUFE)?
Age 8-18, especially pre-puberty, overweight males
Hypothyroidism or renal disease may predispose to SUFE
Describe the clinical presentation of osteochondritis dissecans
Knee pain, recurrent effusions of the knee
Some asymptomatic
Describe the prognosis of late developmental dysplasia of the hip
Unable to construct a normal hip, 30% will require further surgery
Describe the prognosis of early developmental dysplasia of the hip
95% normal hip
If fixation is needed for a diaphyseal fracture, what technique would you use in a child?
Flexible nails
Describe the management of Duchenne Muscular Dystrophy
Physiotherapy, splintage and deformity correction may prolong mobility
Severe scoliosis may be corrected by spinal surgery
Describe the clinical presentation of Perthes disease
Pain and a limp, mostly unilateral
What causes skeletal dysplasia?
Genetic error (hereditary or sporadic mutation) resulting in abnormal development of bone and connective tissue
What is the significance of mobile flat feet in children?
None - it is a normal variant and medial arch support orthoses are not required
If fixation is needed for a metaphyseal fracture, what technique would you use in a child?
K wires
What is traction apophysitis?
Excessive pull by a large tendon causes damage to the unfused apophysis to which it is attached
Can occur at tibial tubercle, patella and Achilles
Name 3 musculoskeletal manifestations of Down syndrome
Short stature, joint laxity with possible recurrent dislocation, atlanto‐axial instability
Describe the appearance of a growth plate on x-ray
Lucency between the epiphysis and metaphysis
What is a greenstick fracture?
Incomplete fracture - cortex on the tension side of the fracture fails but the cortex on the compression side of the fracture remains intact
What is Perthes disease?
Idiopathic osteochondritis of the femoral head
What is plastic deformation?
Bad bend which stays bent, but isn’t obviously fractured
When is an arthroplasty/total hip replacement considered in Femoroacetabular Impingement Syndrome?
Older patients with secondary OA
What causes pincer type hip impingement?
Extra bone extends out over the normal rim of the acetabulum
Occurs because extra bone extends out over the normal rim of the acetabulum
What is Slipped Upper Femoral Epiphysis (SUFE)?
Condition mainly affecting overweight pre‐pubertal adolescent boys where the femoral head epiphysis slips inferiorly in relation to the femoral neck
What commonly proceeds transient synovitis?
Commonly occurs shortly after an upper respiratory tract infection (usually viral)
What is patellar tendonitis?
Self-limiting tendonitis which occurs most commonly due to jumping activities (‘jumper’s knee’)
If fixation is needed for a epiphyseal fracture, what technique would you use in a child?
K wires and screws
What types of babies will undergo selective US screening for developmental dysplasia of the hip?
Breech, 1st degree family member with DDH, moulded
Describe the clinical presentation of Marfan’s syndrome
Tall stature with disproportionately long limbs, ligamentous laxity, high arched palate, scoiliosis, flattening of the chest, eye problems, aortic aneurysm and cardiac valve incompetence
Describe the clinical presentation of club foot
Ankle equinus (plantarflexion), supination of the forefoot and varus alignment of the forefoot
Describe the clinical presentation of Slipped Upper Femoral Epiphysis (SUFE)
Hip, groin, thigh or knee pain with limp
1/3 cases bilateral
What is MRI especially useful for in Femoroacetabular Impingement Syndrome?
Visulising damage to labrum and bony oedema
What is postural talipes?
Feet turned in at birth but will stretch out with mild physiotherapy (different to club foot - no structural malformation)
What are mobile flat feet?
Feet where the flattened medial arch forms with dorsiflexion of the great toe
At what age does a child’s varus knees from birth become neutrally aligned?
Around 14 months
What is the most common type of skeletal dysplasia?
Achondroplasia
When might fixation be needed in a fracture in a child?
Displaced intra-articular fractures, displaced growth plate injuries, some open fractures
Describe the pathophysiology of developmental dysplasia of the hip
If 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
Can cause severe arthritis at a young age gait / mobility may be severely affected
What is generalised (familial) joint laxity?
Hypermobility of the joints, autosomal dominant inheritance (runs in families)
When may ‘knock knees’ or ‘bow legs’ require surgery?
If genu varum or excessive genu valgum does not resolve after the age of 10
What are rigid flat feet?
The arch remains flat regardless of load or great toe dorsiflexion
Which investigations would you perform in suspected Duchenne Muscular Dystrophy?
Bloods - raised serum creatinine phosphokinase
Muscle biopsy
What causes CAM type hip impingement?
The femoral head is not round and cannot rotate smoothly inside the acetabulum
A bump forms on the edge of the femoral head that grinds the cartilage inside the acetabulum
Which patient group is most likely to develop Perthes disease?
More common in boys (around 5:1), particularly very active boys of short stature
What is Marfan’s syndrome?
Autosomal dominant or sporadic mutation resulting in tall stature with disproportionately long limbs and ligamentous laxity
Which patient group is more likely to develop club foot?
Males, family history, breech presentation, oligohydramnios
Describe the management of osteochondritis dissecans
Can heal or resolve spontaneously
Requires specialist referral as indications for surgery are controversial
Which toe most commonly curls/overlaps in children?
Fifth toe
Name two conditions which people with generalised (familial) joint laxity are more prone to
Soft tissue injuries e.g. ankle sprains, recurrent dislocations of joints
Describe the management of early developmental dysplasia of the hip
Pavlik harness 23-24 hrs a day for up to 12 weeks until USS is normal
Describe the clinical presentation of Osgood-Schlatter’s disease
Knee pain, swelling
Leaves prominent bony lump
Describe the inheritance pattern of Duchenne Muscular Dystrophy
X-linked disorder (boys only affected)
Describe the management of club foot
Ponsetti technique - splinting and casting
80% require tenotomy of the Achilles tendon to maintain full correction
Surgery for cases resistant to splintage
Once correction achieved - boot and bar 23/7 for 3 months and used at night until age 3-4
Name the 3 types of Femoroacetabular Impingement Syndrome
CAM type impingement, pincer type impingement, mixed impingement
What causes club foot?
In utero abnormal alignment of the joints between the talus, calcaneus and navicular (7th week of embryo development)
Describe the appearance of a varus deformity
Larger gap between the knees
Which feature of Marfan’s can cause premature death?
Cardiac abnormalities - aneurysm, dissection, valvular disease
Which investigations should you perform in suspected Femoroacetabular Impingement Syndrome?
X-ray, CT, MRI
