cortex 5 - Paediatric orthopaedics 1

Question 1

what is osteogenesis imperfecta ?

Answer 1

Known as ‘‘brittle bone disease’’ it is a defect in the maturation and organisation of type 1 collagen (which makes up the majority of organic bone composition)

Question 2

are most cases of osteogensis imperfecta autosomal dominant or recessive ?

Answer 2

majority are autosomal dominant

Question 3

What are the typical features seen in autosomal dominant osteogensis imperfecta patients?

Answer 3

1. Multiple fragility fractures of childhood
2. Short stature with multiple deformities
3. Blue sclerae
4. Loss of hearing

Question 4

What is the rarer type of osteogenesis imperfecta and how is it worse ?

Answer 4

Autosomal recessive which are either fatal in the perinatal period or associated with spinal deformity.

Question 5

What do the bones in patients with osteogenesis imperfecta tend to look like ?

Answer 5

Bones tend to be thin (gracile) with thin cortices and osteopenic (a medical condition in which the protein and mineral content of bone tissue is reduced, but less severely than in osteoporosis.)

Question 6

What can patients with osteogenesis imperfecta often present with ?

Answer 6

Low energy fractures - these can be mistaken for childabuse

Question 7

What is the treatment for the fractures in osteogenesis imperfecta?

Answer 7

Treated with splintage, traction or surgical stabilization

Question 8

In cases of osteogenesis imperfecta which develop progressive deformities what is done to treat this?

Answer 8

May require multiple osteotomies and intramedullary stabilization for correction (Sofield procedure)

Question 9

What is the clinical feature seen here and what disease is it associated with ?

Answer 9

Blue sclera associated with osteogenesis imperfecta

Question 10

What is skeletal dysplasia and what is it due to ?

Answer 10

It is the medical term for short stature (dwarfism no longer used) it is due to genetic error (hereditary or sporadic) resulting in abnormal development of bone and connective tissue.

Short stature may be proportinate or disproportionate (i.e. limbs proportionally shorter/longer than spine).

Question 11

What is the commonest type of skeletal dysplasia ?

Answer 11

Achondroplasia

Question 12

What are the features of achondroplasia ?

Answer 12

Results in disproportionately short limbs with a prominent forehead and widened nose.

Joints are lax and mental development is normal.

Question 13

What are some of the general features associaed with other skeletal dysplasias?

Answer 13

Learning difficulties, spine deformity, limb deformity, internal organ dysfunction, craniofacial abnormalities, skin abnormalities, tumour formation (especially haemangiomas - is a collection of blood vessels that form a lump under the skin; it’s often called a ‘strawberry mark’ as it looks like the surface of a strawberry),

joint hypermobility, atlanto‐axial subluxation, spinal cord compression (myelopathy) and intrauterine or premature death.

Question 14

What is the treatment options for skeletal dysplasia and what should be considered for the families affected?

Answer 14

Genetic testing of the child and family should be considered

Orthopaedic treatment comprises of deformity correction (including severe scoliosis correction) and limb lengthening.

Growth hormona therapy may be appropriate.

Question 15

What are connective tissue disorders (i.e. Generalised (Familial) Joint Laxity, Marfan’s syndrome, Ehlers‐Danlos syndrome, Down syndrome) usually due to ?

Answer 15

These are due to genetic disorders of collagen synthesis (mainly type 1 found in bone, tendon and ligaments) resulting in joint hypermobility.

Osteogenesis imperfecta predominantly affects the type 1 collagen of bone whereas the connective tissue disorders affect soft tissues more than bone.

Question 16

What is Generalised (Familial) Joint Laxity? and what injuries are some of these patients more likely to do ?

Answer 16

People have hypermobility of the joints which usually runs in families and is inherited in a dominant manner.

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.

Question 17

What mutation causes marfans syndrome ?

Answer 17

It can be an autosomal dominant or sporadic mutation of the fibrillin gene (Fibrillin-1 is a protein encoded by the FBN1 gene, located on chromosome 15)

Question 18

What are the classic features of marfans syndrome?(3)

Answer 18

• Tall stature
• Disproportionately long limbs
• Ligamentous laxity

Question 19

What may cause premature death in patients with marfans syndrome ?

Answer 19

cardiac abnormalities

Question 20

What are some of the other assocaiated features of marfans syndrome ?(5)

Answer 20

1. High arched palate
2. scoiliosis
3. Flattening of the chest (pectus excavatum)
4. Eye problems
5. Aortic aneurysm and cardiac valve incompetence.

Question 21

What condition does this patient have ?

Answer 21

Marfans syndrome

Question 22

What is the treatment of Marfans syndrome ?

Answer 22

Rarely require orthoapedic surgery (scoliosis and bony procedures for joint instability eg fusions) and soft tissue stabilization of dislocating joints usually has disappointing results.

Question 23

What is Ehlers-Danlos syndrome ?

Answer 23

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

Question 24

What are the clinical features of Ehlers-Danlos syndrome?

Answer 24

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

Question 25

In Ehlers-Danlos syndrome what treatment option may be required, also what can be a problem with this treatment ?

Answer 25

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 (wound ruptures along scar line) common.

Question 26

What is the genetic mutation which causes downs syndrome ?

Answer 26

trisomy of chromosome 21

Question 27

What are the MSK related features of downs syndrome?

Answer 27

Short stature and joint laxity with possible recurrent dislocation (especially patella) which may require stabilization. Atlanto‐axial instability in the c‐spine can also occur.

Question 28

What are the 2 different relevant muscular dystrophies ?

Answer 28

Duchenne muscular dystrophy (DMD)

Becker’s muscular dystrophy

Question 29

In general terms what are muscular dystrophies ?

Answer 29

Usually X‐linked recessive hereditary disorders (therefore only affecting boys).

Results in progressive muscle weakness and wasting.

Question 30

What is duchenne muscular dystrophy caused by?

Answer 30

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

Question 31

When is duchenne muscular dystrophy commonly noticed ?

Answer 31

when the boy starts to walk with difficulty standing (gowers sign seen in pic) and going up stairs

Question 32

In DMD by the age of 10 the 20 then early 20s has usually happened ?

Answer 32

By the age of 10 progressive muscle weakness has stopped the patient from being able to walk.

Then by the age of 20 they have developed cardiac and resp failure which then usually results in death by their early 20s..

Question 33

What is beckers muscular dystrophy ?

Answer 33

Its similar to DMD but milder and patients usually survive to 30s/40s.

Question 34

What is Cerebral palsy, when does it present and what is it due too?

Answer 34

It is a neuromuscular condition which presents before 2-3 years of age and is due to insult to the brain before during or after birth.

Question 35

What are some of the causes of CP?

Answer 35

• Genetic problems
• brain malformation
• intrauterine infection in early pregnancy
• prematurity
• intra‐cranial haemorrhage
• hypoxia during birth and meningitis.

Often there is no identifiable cause.

Question 36

What can the severity of CP range from ?

Answer 36

From mild symptoms and signs limited to one limb or total body involvement with profound learning difficulties.

Question 37

What does the term limb malformation cover?

Answer 37

Include extra bones, absent bones, short (hypoplastic) bones and fusions of bones and/or skin and soft tissues.

Question 38

What is syndactyly

Answer 38

Is the commonest congenital malformation of the limbs where two digits (fingers or toes) are fused due to failure of separation of the skin/soft tissues or phalanges of adjacent digits either partially or along the entire length of the digits.

Question 39

If treatmeant is required then what is the treatment for syndactyly ?

Answer 39

Surgical separation before the age of 3-4

Question 40

What is polydactyly ?

Answer 40

It is when there is an extra digit formed can be treated by amputating the extra digit.

Question 41

What is fibular hemimelia?

Answer 41

Is one of the most common limb deficiencies which involves partial or complete absence of the fibula

Question 42

What are some of the complications of fibular hemimelia?

Answer 42

A shortened limb, bowing of the tibia and ankle deformity.

Question 43

What is the treatment for mild and severe cases of fibular hemimelia?

Answer 43

Mild - limb lengthening with a circular frame external fixator

Severe - a through ankle amputation at 10 months to 2 years old and use of a below knee prosthetic limb.

Question 44

Absence or hypoplasia of the radius in the upper limb leads to underdevelopment of the hand (usually absence of the thumb) with marked deformity (radial club hand). What is the treatment for this?

Answer 44

Surgical reconstruction may be required with thumb reconstruction from the index ray (pollicisation) and correction of the deformity.

Question 45

What is the most common congenital fusion?

Answer 45

A fusion between two of the tarsal bones of the foot (known as tarsal coalition)

Question 46

What can tarsal coalition cause in later childhood?

Answer 46

can cause painful flat feet in later childhood

Question 47

If tarsal coalition requires treatment what would be done ?

Answer 47

Surgical division of the two fused tarsal bones.

Question 48

Who does Obstetric Brachial Plexus Palsy most commonly arise in ?

Answer 48

Large babies (macrosomia,a newborn who’s significantly larger than average, in diabetes)

Twin deliveries

Shoulder dystocia (difficult delivery of the shoulder after the head with compression of the shoulder on the pubic symphysis).

Question 49

What is the commonest type of Obstetric Brachial Plexus Palsy

Answer 49

Erb’s palsy

Question 50

What spinal nerve roots are injured in Erbs palsy… which results in loss of motor innervation to which muscles ?

Answer 50

C5 and 6

Resulting in loss of motor innervation of the deltoid, supraspinatus, infraspinatus, biceps and brachilais muscles.

Question 51

What is the classic position of the arm in patients with Erb’s palsy?

Answer 51

Internal rotation of the humerus, may lead to the classic waiter’s tip posture.

Question 52

What clinical sign is seen and what condition is it associated with ?

Answer 52

Internal rotation fo the humerus - known as waiters tip posture.

Associated with Erb’s palsy.

Question 53

What is Klumpke’s palsy?

Answer 53

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).

Question 54

What is the treatment options for Erb’s palsy ?

Answer 54

Physiotherapy is required to prevent contractures early on and prognosis is predicted by the return of biceps function by 6 months usually good outcomes.

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

Question 55

In Klumpke’s palsy how does the hand and fingers usually look ?

Answer 55

fingers are usually flexed