Genetic & Paediatric Diseases of the Skeleton

Question 1

Which condition results from a defect in the maturation and organisation of type 1 collagen?

Answer 1

Osteogenesis imperfecta

Typically an autosomal dominant disorder.

Question 2

What are features of osteogenesis imperfecta?

Answer 2

Short stature
Blue sclera
Hearing loss
Fragility fractures

Question 3

What is an important differential to consider in osteogenesis imperfecta?

Answer 3

Non-accidental injury

Question 4

What is skeletal dysplasia?

Answer 4

A group of conditions resulting in short stature.

Question 5

What is the most common skeletal dysplasia?

Answer 5

Achrondroplasia

Question 6

What are features of achrondoplasia?

Answer 6

Short stature
Disproportionate limbs
Prominent forehead
Wide nose
Lax joints

Question 7

Does achondroplasia affect mental development?

Answer 7

No

Question 8

Name 3 connective tissue disorders?

Answer 8

General joint laxity
Marfan’s Syndrome
Ehlers-Danlos Syndrome

Question 9

What is Marfan’s Syndrome?

Answer 9

An autosomal dominant condition affecting the fibrillin gene.

Question 10

What are features of Marfan’s Syndrome?

Answer 10

Tall stature
Long limbs
Ligamentous laxity
High-arched palate
Scoliosis
Pectus excavatum
Aortic aneurysm

Question 11

What may result in premature death in those with Marfan’s Syndrome?

Answer 11

Cardiac abnormalities

These include:
Aortic regurgitation
Aortic dissection
Aortic aneurysm
Mitral valve prolapse

Question 12

What is Ehlers-Danlos Syndrome?

Answer 12

An autosomal dominant condition affecting elastin and collagen formation.

Question 13

What are factors of Ehlers-Danlos Syndrome?

Answer 13

Hypermobility
Vascular fragility
Easy bruising
Joint instability
Scoliosis

Question 14

What form of inheritance is associated with muscular dystrophy conditions?

Answer 14

X-linked recessive disorders

Most cases are therefore male.

Question 15

Which condition produces Gower’s sign?

Answer 15

Duchenne Muscular Dystrophy

Question 16

How is Duchenne Muscular Dystrophy diagnosed?

Answer 16

Raised serum creatinine phosphokinase levels
Abnormal muscle biopsy

Question 17

What results in cerebral palsy?

Answer 17

An insult to the brain before, during, or after birth.

Question 18

Which gender is most commonly affected by developmental dysplasia of the hip?

Answer 18

Females

Question 19

What is developmental dysplasia of the hip?

Answer 19

A structural abnormality during foetal development resulting in hip joint instability, with risk of subluxation and dislocation.

Question 20

What tests are used to check for DDH?

Answer 20

Ortolani’s test
Barlow’s test

Question 21

If Ortolani’s and Barlow’s tests are positive, what further test is needed?

Answer 21

USS

Question 22

What is transient synovitis of the hip?

Answer 22

A self-limiting condition of the synovium, typically following a URTI.

The most common cause of hip pain in children.

Question 23

How should transient synovitis of the hip be managed?

Answer 23

NSAIDs and rest.

If unresolving, investigate further.

Question 24

What is Perthes disease?

Answer 24

Idiopathic osteochondritis of the femoral head, occurring within those aged 4-9 years old. More common in boys.

Question 25

Which paediatric hip condition results in remodelling of the femoral head?

Answer 25

Perthes disease

Question 26

How may Perthes disease present?

Answer 26

Pain and a limp.

There may be a loss of internal rotation, followed by a loss of abduction, and then a positive Trendelenburg’s test.

Question 27

What is SUFE?

Answer 27

A condition resulting from slipping of the femoral head epiphysis inferior to the femoral neck.

Question 28

What age group is affected by SUFE?

Answer 28

Overweight pre-pubertal boys.

Question 29

How may SUFE present?

Answer 29

Limp and pain (may be described as knee).

Due to the unspecific presentation, it is therefore important to also examine the hip in these cases.

Question 30

How is SUFE treated?

Answer 30

Pinnage of the femoral head.

Carry this out urgently.

Question 31

What is a common knee condition seen in adolescents?

Answer 31

Anterior knee pain

This is more common in girls.

Question 32

What is talipes equinovarus?

Answer 32

Also known as clubfoot, it is a congenital abnormality affecting the alignment of the talus, calcaneus, and the navicular.