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MBChB YR2 MSK > Disease Profiles: Growth and Developmental Disorders > Flashcards

Disease Profiles: Growth and Developmental Disorders Flashcards

1
Q

What is osteochondritis dissecans?

A

An area of the surface of the knee loses its lood supply and cartilage +/- bone can fragment off

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2
Q

What is transient synovitis?

A

Self-limiting inflammation of the synovial of a joint, most commonly the hip

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3
Q

Name two tests for developmental dysplasia of the hip

A

Barlow’s test, Ortolani’s test

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4
Q

Name 3 signs of developmental dysplasia of the hip

A

Asymmetry, loss knee height, less abduction in flexion

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5
Q

What patient group is most likely to develop transient synovitis?

A

Typical age is between 2 and 10, boys are more commonly affected than girls

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6
Q

How can you identify a fracture of the growth plate?

A

Epiphysis will not be centred on the metaphysis

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7
Q

What is Duchenne Muscular Dystrophy?

A

Rare x-linked disorder that leads to progressive muscle wasting

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8
Q

When may a baby with developmental dysplasia of the hip present?

A

Neonatal baby checks, selective US screening, 6-8 week GP check, when starts to walk (late presentation)

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9
Q

What is Erb’s palsy?

A

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

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10
Q

What is skeletal dysplasia?

A

Medial term for short stature

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11
Q

At what age does a child’s knees reach their normal physiological valgus of 6°?

A

7-9 years

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12
Q

What is Klumple’s palsy?

A

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

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13
Q

What is Barlow’s test?

A

Test for developmental dysplasia - flex and adduct the hip, sign is positive if hip dislocates posteriorly

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14
Q

Which patient group is most likely to develop osteochondritis dissecans?

A

Most common in adolescence

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15
Q

Describe the clinical presentation of Klumple’s palsy

A

Fingers are typically flexed (due to paralysis of the interossei and lubricals)

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16
Q

What feature of normal anatomy may give the appearance of slight in-toeing?

A

Excess femoral neck anteversion (pointing forward)

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17
Q

Why are children more amenable to conservative fracture management?

A

Increased modelling potential

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18
Q

What is mixed hip impingement?

A

Combination of CAM and pincer type

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19
Q

Describe the examination findings of a child with Perthes disease

A

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

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20
Q

Describe the clinical presentation of autosomal recessive osteogenesis imperfecta

A

Either fatal in the perinatal period or associated with spinal deformity

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21
Q

What is developmental dysplasia of the hip?

A

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

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22
Q

Describe the management of patellar tendonitis

A

Self‐limiting, requires rest and possibly physiotherapy

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23
Q

What is Ortolani’s test?

A

Test for developmental dysplasia - flexion and abduction reduces femoral head into acetabulum

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24
Q

By what age do the majority of cases of bow legs or knock knees resolve?

A

10

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25
Q

What is Osgood-Schlatter’s disease?

A

Traction apophysities at tibial tubercle - insertion of patellar tendon into tibial tuberosity

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26
Q

What can cause rigid flat feet?

A

Underlying bone abnormality, underlying inflammatory or neurological disorder

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27
Q

What is Femoroacetabular Impingement Syndrome (FAI) (Hip Impingement)

A

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

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28
Q

Describe the pathophysiology of Perthes disease

A

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

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29
Q

What is a torus (buckle) fracture?

A

Crease of the bone and periosteum

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30
Q

Describe the management of osteogenesis imperfecta

A

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

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31
Q

Describe the management of Perthes disease

A

No specific treatment other than regular xray observation and avoidance of physical activity

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32
Q

What is osteogenesis imperfecta?

A

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)

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33
Q

Describe the clinical presentation of transient synovitis

A

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

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34
Q

Describe the management of late developmental dysplasia of the hip

A

Closed or open reduction and hip spica

For children 18 months+ more likely to be OR

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35
Q

Describe the surgical management of osteochondritis dissecans

A

If not yet detached - pin in place

If detached - fix or remove

May consider cartilage regeneration for persistent pain

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36
Q

When may an osteotomy be indicated in Slipped Upper Femoral Epiphysis (SUFE)?

A

Chronic severe slips

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37
Q

Describe the management of Femoroacetabular Impingement Syndrome

A

Observation, conservative measures

Surgical options

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38
Q

Why is a USS for developmental dysplasia of the hip less helpful after 3 months?

A

Osification nucleus begins to develop

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39
Q

Describe the prognosis of Perthes disease

A

50% of cases do well, can cause abductor muscle weakness (Trendellenburg positive), occasionally the femoral head may sublux requiring an osteotomy

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40
Q

What is club foot (talipes equinovarus)?

A

Condition in which a newborn’s foot or feet appear to be rotated internally at the ankle

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41
Q

Describe the clinical presentation of autosomal dominant osteogenesis imperfecta

A

Multiple fragility fractures of childhood, short stature with multiple deformities, blue sclerae, dentinogenesis imperfecta, loss of hearing

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42
Q

Describe the normal knee alignment at birth

A

Varus knees (bow legs)

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43
Q

What is patellofemoral pain syndrome?

A

Anterior knee pain which is generally idiopathic, aka idiopathic adolescent anterior knee pain, chondromalacia patellae

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44
Q

Describe the management of patellofemoral pain syndrome

A

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)

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45
Q

What is in-toeing?

A

Refers to a child who, when walking and standing will have feet that point toward the midline

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46
Q

Why do patients with Marfan’s syndrome rarely require orthopaedic surgery and soft tissue stabilisation?

A

Results usually disappointing as the biological abnormality cannot be corrected

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47
Q

Describe the pathophysiology of Slipped Upper Femoral Epiphysis (SUFE)

A

The growth plate (physis) is not strong enough to support body weight and the femoral epiphysis slips due to the strain

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48
Q

Why do children’s bones ‘bend or bow’ when they fracture rather than ‘snap and splinter’?

A

The periosteum of children’s bones is very thick

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49
Q

Name a complication of growth plate injury

A

Growth deformity

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50
Q

Describe the prognosis of Slipped Upper Femoral Epiphysis (SUFE)

A

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

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51
Q

Where should you immobilise a diaphysial fracture in a child?

A

Joint immobilised above and below to prevent rotation

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52
Q

What is the preferred investigation for developmental dysplasia of the hip after 4-6 months?

A

X-ray

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53
Q

Name 2 issues with bone surgery in patients with Ehlers-Danlos syndrome

A

Bleeding can be a problem, skin healing can be poor

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54
Q

What is the preferred investigation for developmental dysplasia of the hip before 3 months?

A

USS

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55
Q

Which investigations would you perform in suspected transient synovitis?

A

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)

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56
Q

Name 3 potential causes of genu varum or valgum

A

Underlying skeletal disorder, physeal injury with growth arrest, biochemical disorder (rickets)

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57
Q

Describe the examination findings in Femoroacetabular Impingement Syndrome

A

C sign positive, FADIR provocation test positive

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58
Q

Describe the appearance of a valgus deformity

A

Knock knee appearance with a larger gap than normal between the feet/ankles

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59
Q

Where should you immobilise a metaphyseal fracture in a child?

A

Adjacent joint immobilised

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60
Q

What is Ehlers-Danlos syndrome?

A

Heterogeneous condition which is often autosomal dominantly inherited with abnormal elastin and collagen formation

61
Q

Describe the clinical presentation of Femoroacetabular Impingement Syndrome

A

Activity related to pain in the groin, particularly in flexion and rotation, difficulty sitting

62
Q

What can cause mobile flat feet?

A

May be related to ligamentous laxity, may be familial or may be idiopathic

63
Q

What causes cerebral palsy?

A

Insult to the growing brain before, during or after birth e.g. genetic problems, brain malformation, intrauterine infection in early pregnancy

64
Q

Which patient group is most likely to develop patellofemoral pain syndrome?

A

Adolescents, especially in girls

65
Q

Which patient group is most likely develop CAM type hip impingement?

A

Usually young athletic males, can be related to previous SUFE

66
Q

Dysfunction of what muscle may be related to mobile flat feet in adults?

A

Tibialis posterior

67
Q

What is the Salter-Harris classification used for?

A

Used to grade growth plate fractures - prognosis is poorer as classification progresses

68
Q

Describe the prognosis of Duchenne Muscular Dystrophy

A

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

69
Q

Describe the clinical presentation of achondroplasia

A

Disproportionately short limbs with a prominent forehead and widened nose, lax joints, mental development normal

70
Q

Which patient group is most likely develop pincer type hip impingement?

A

Females

71
Q

Describe the management of transient synovitis

A

NSAIDs and rest, pain should resolve within a few weeks

72
Q

Which investigations would you perform in suspected osteochondritis dissecans?

A

X-ray, MRI

73
Q

Describe the management of Slipped Upper Femoral Epiphysis (SUFE)

A

Urgent surgery to pin the femoral head to prevent further slippage

74
Q

When may gentle manipulation be indicated in the management of Slipped Upper Femoral Epiphysis (SUFE)? What is the risk?

A

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

75
Q

What is the surgical option for management of CAM type impingement?

A

Arthroscopic/open surgery to remove CAM/debride laral tears

76
Q

Describe the prognosis of Klumple’s palsy

A

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

77
Q

Describe the management of curly toes

A

Most will correct without intervention but they can occasionally cause discomfort in shoes and persistent cases in adolescence may require surgical correction

78
Q

Describe the clinical presentation of Erb’s palsy

A

Internal rotation of the humerus (from unopposed subscapularis) and may lead to the classic waiter’s tip posture

79
Q

When do the muscles that cause the foot to arch and become less flat develop?

A

As we begin to walk

80
Q

Describe the management of Erb’s palsy

A

Early physiotherapy - good outcome in 80‐90% of cases

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

81
Q

Describe the clinical presentation of Ehlers-Danlos syndrome

A

Profound joint hypermobility, vascular fragility with ease of bruising, joint instability and scoliosis

82
Q

Around what age does a child have knee alignment of 10 to 15° valgus (knock knees)?

A

3 years

83
Q

Which patient group is most likely to develop Osgood-Schlatter’s disease?

A

Adolescent active boys

84
Q

Which patient group are most likely to develop developmental dysplasia of the hip?

A

Females, breech presentation, first born, > 4kg, multiple pregnancy

85
Q

What is the surgical option for management of pincer type impingement?

A

Peri-acetabular osteotomy/debride labral tears

86
Q

Describe the x-ray findings of a patient with osteogenesis imperfecta

A

Bones tend to be thin (gracile) with thin cortices and osteopenic, mild cases may be relatively normal

87
Q

Which form of brachial plexus palsy carries the poorest prognosis?

A

Total brachial plexus palsy

88
Q

How would you define pathological varus or valgus?

A

Alignment is considered outside the normal range (+/‐ 6° from mean value for age)

89
Q

Describe the pathophysiology of Duchenne Muscular Dystrophy

A

A defect in the dystrophin gene involved in calcium transport results in progressive muscle weakness

90
Q

What is cerebral palsy?

A

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

91
Q

Describe the clinical presentation of cerebral palsy

A

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

92
Q

Describe the examination findings in Slipped Upper Femoral Epiphysis (SUFE)

A

Antalgic gait, loss of internal rotation of the hip

93
Q

Why can x-ray not be used for early diagnosis of developmental dysplasia of the hip?

A

Femoral head epiphysis is unossified until around 4‐6 months

94
Q

Name the weakest part of a developing bone

A

Growth plate

95
Q

Which investigation should be performed in Slipped Upper Femoral Epiphysis (SUFE)?

A

X-ray - AP and lateral

96
Q

Name three situations which would put a baby at risk of brachial plexus injury during vaginal delivery

A

Large babies, twin deliveries and shoulder dystocia

97
Q

Which patient group is most likely to develop Slipped Upper Femoral Epiphysis (SUFE)?

A

Age 8-18, especially pre-puberty, overweight males

Hypothyroidism or renal disease may predispose to SUFE

98
Q

Describe the clinical presentation of osteochondritis dissecans

A

Knee pain, recurrent effusions of the knee

Some asymptomatic

99
Q

Describe the prognosis of late developmental dysplasia of the hip

A

Unable to construct a normal hip, 30% will require further surgery

100
Q

Describe the prognosis of early developmental dysplasia of the hip

A

95% normal hip

101
Q

If fixation is needed for a diaphyseal fracture, what technique would you use in a child?

A

Flexible nails

102
Q

Describe the management of Duchenne Muscular Dystrophy

A

Physiotherapy, splintage and deformity correction may prolong mobility

Severe scoliosis may be corrected by spinal surgery

103
Q

Describe the clinical presentation of Perthes disease

A

Pain and a limp, mostly unilateral

104
Q

What causes skeletal dysplasia?

A

Genetic error (hereditary or sporadic mutation) resulting in abnormal development of bone and connective tissue

105
Q

What is the significance of mobile flat feet in children?

A

None - it is a normal variant and medial arch support orthoses are not required

106
Q

If fixation is needed for a metaphyseal fracture, what technique would you use in a child?

A

K wires

107
Q

What is traction apophysitis?

A

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

108
Q

Name 3 musculoskeletal manifestations of Down syndrome

A

Short stature, joint laxity with possible recurrent dislocation, atlanto‐axial instability

109
Q

Describe the appearance of a growth plate on x-ray

A

Lucency between the epiphysis and metaphysis

110
Q

What is a greenstick fracture?

A

Incomplete fracture - cortex on the tension side of the fracture fails but the cortex on the compression side of the fracture remains intact

111
Q

What is Perthes disease?

A

Idiopathic osteochondritis of the femoral head

112
Q

What is plastic deformation?

A

Bad bend which stays bent, but isn’t obviously fractured

113
Q

When is an arthroplasty/total hip replacement considered in Femoroacetabular Impingement Syndrome?

A

Older patients with secondary OA

114
Q

What causes pincer type hip impingement?

A

Extra bone extends out over the normal rim of the acetabulum

Occurs because extra bone extends out over the normal rim of the acetabulum

115
Q

What is Slipped Upper Femoral Epiphysis (SUFE)?

A

Condition mainly affecting overweight pre‐pubertal adolescent boys where the femoral head epiphysis slips inferiorly in relation to the femoral neck

116
Q

What commonly proceeds transient synovitis?

A

Commonly occurs shortly after an upper respiratory tract infection (usually viral)

117
Q

What is patellar tendonitis?

A

Self-limiting tendonitis which occurs most commonly due to jumping activities (‘jumper’s knee’)

118
Q

If fixation is needed for a epiphyseal fracture, what technique would you use in a child?

A

K wires and screws

119
Q

What types of babies will undergo selective US screening for developmental dysplasia of the hip?

A

Breech, 1st degree family member with DDH, moulded

120
Q

Describe the clinical presentation of Marfan’s syndrome

A

Tall stature with disproportionately long limbs, ligamentous laxity, high arched palate, scoiliosis, flattening of the chest, eye problems, aortic aneurysm and cardiac valve incompetence

121
Q

Describe the clinical presentation of club foot

A

Ankle equinus (plantarflexion), supination of the forefoot and varus alignment of the forefoot

122
Q

Describe the clinical presentation of Slipped Upper Femoral Epiphysis (SUFE)

A

Hip, groin, thigh or knee pain with limp

1/3 cases bilateral

123
Q

What is MRI especially useful for in Femoroacetabular Impingement Syndrome?

A

Visulising damage to labrum and bony oedema

124
Q

What is postural talipes?

A

Feet turned in at birth but will stretch out with mild physiotherapy (different to club foot - no structural malformation)

125
Q

What are mobile flat feet?

A

Feet where the flattened medial arch forms with dorsiflexion of the great toe

126
Q

At what age does a child’s varus knees from birth become neutrally aligned?

A

Around 14 months

127
Q

What is the most common type of skeletal dysplasia?

A

Achondroplasia

128
Q

When might fixation be needed in a fracture in a child?

A

Displaced intra-articular fractures, displaced growth plate injuries, some open fractures

129
Q

Describe the pathophysiology of developmental dysplasia of the hip

A

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

130
Q

What is generalised (familial) joint laxity?

A

Hypermobility of the joints, autosomal dominant inheritance (runs in families)

131
Q

When may ‘knock knees’ or ‘bow legs’ require surgery?

A

If genu varum or excessive genu valgum does not resolve after the age of 10

132
Q

What are rigid flat feet?

A

The arch remains flat regardless of load or great toe dorsiflexion

133
Q

Which investigations would you perform in suspected Duchenne Muscular Dystrophy?

A

Bloods - raised serum creatinine phosphokinase

Muscle biopsy

134
Q

What causes CAM type hip impingement?

A

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

135
Q

Which patient group is most likely to develop Perthes disease?

A

More common in boys (around 5:1), particularly very active boys of short stature

136
Q

What is Marfan’s syndrome?

A

Autosomal dominant or sporadic mutation resulting in tall stature with disproportionately long limbs and ligamentous laxity

137
Q

Which patient group is more likely to develop club foot?

A

Males, family history, breech presentation, oligohydramnios

138
Q

Describe the management of osteochondritis dissecans

A

Can heal or resolve spontaneously

Requires specialist referral as indications for surgery are controversial

139
Q

Which toe most commonly curls/overlaps in children?

A

Fifth toe

140
Q

Name two conditions which people with generalised (familial) joint laxity are more prone to

A

Soft tissue injuries e.g. ankle sprains, recurrent dislocations of joints

141
Q

Describe the management of early developmental dysplasia of the hip

A

Pavlik harness 23-24 hrs a day for up to 12 weeks until USS is normal

142
Q

Describe the clinical presentation of Osgood-Schlatter’s disease

A

Knee pain, swelling

Leaves prominent bony lump

143
Q

Describe the inheritance pattern of Duchenne Muscular Dystrophy

A

X-linked disorder (boys only affected)

144
Q

Describe the management of club foot

A

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

145
Q

Name the 3 types of Femoroacetabular Impingement Syndrome

A

CAM type impingement, pincer type impingement, mixed impingement

146
Q

What causes club foot?

A

In utero abnormal alignment of the joints between the talus, calcaneus and navicular (7th week of embryo development)

147
Q

Describe the appearance of a varus deformity

A

Larger gap between the knees

148
Q

Which feature of Marfan’s can cause premature death?

A

Cardiac abnormalities - aneurysm, dissection, valvular disease

149
Q

Which investigations should you perform in suspected Femoroacetabular Impingement Syndrome?

A

X-ray, CT, MRI

MBChB YR2 MSK (36 decks)

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