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MSK- Paediatric Orthopaedics > Congenital Disorders > Flashcards

Congenital Disorders Flashcards

1
Q

What disease is also known as ‘brittle bone disease’?

A

Osteogenesis imperfecta

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2
Q

Where is the defect in osteogenesis imperfecta?

A

The synthesis or organisation of type I collagen which accounts for most of the composition of bone

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3
Q

The majority of cases of osteogenesis imperfecta are inherited how? What does this mean?

A

Majority are autosomal dominant, usually this means they are milder cases

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4
Q

What are some features of autosomal dominant inherited osteogenesis imperfecta?

A

Short stature with multiple deformities and fragility fractures, blue sclera and hearing loss

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5
Q

Rare cases of osteogenesis tend to be more severe and are inherited how?

A

Autosomal recessive

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6
Q

Give some features of autosomal recessive osteogenesis imperfecta?

A

Severe scoliosis and deformity, may be fatal in the perinatal period

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7
Q

Osteogenesis imperfecta results in low energy fractures. What are some other causes of this which should be considered if a child has this presentation?

A

NAI or osteopenia (associated with prematurity)

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8
Q

Most adults with osteogenesis imperfecta will have what?

A

Scoliosis

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9
Q

The commonest form of skeletal dysplasia is what? How is this usually inherited?

A

Achondroplasia: can be autosomal dominant but >80% of cases are sporadic

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10
Q

Describe achondroplasia?

A

Disproportionately short limbs, with a prominent forehead and wide nose. Joints are lax. Mental development is normal.

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11
Q

How may very mild cases of osteogenesis imperfecta present?

A

With relatively normal x-rays but a history of low impact fractures

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12
Q

What are the bones like in osteogenesis imperfecta? How do fractures heal?

A

The bones are very thin, gracile and osteopenic. Fractures heal with abundant callus.

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13
Q

How are fractures related to osteogenesis imperfecta usually treated?

A

Splintage, traction or surgical stabilisation

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14
Q

In severe cases, osteogenesis imperfecta can cause bowing of the bones which leads to stress fractures. How are these treated?

A

May need osteotomies and intra-medullary stabilisation

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15
Q

What are skeletal dysplasias?

A

A group of genetic disorders (hereditary or sporadic) which lead to short stature which can be proportionate or disproportionate

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16
Q

How does skeletal dysplasia cause a short stature?

A

Abnormal development of bone and connective tissue

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17
Q

As well as short stature, what are some features of skeletal dysplasia that may or may not always be present?

A

Learning difficulties, deformities, hyper mobility, skin abnormalities, tumour formation, intrauterine/premature death

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18
Q

What type of tumour is associated with skeletal dysplasia?

A

Haemangioma

19
Q

Treatment for skeletal dysplasia is supportive. Give some examples of this?

A

Preventing spinal cord and nerve compression, treating joint instabilities and deformities, limb lengthening

20
Q

What tests may be offered if a child has a skeletal dysplasia?

A

Genetic testing of the child and family

21
Q

Connective tissue disorders are generally disorders of what? What does this result in?

A

Mainly a disorder of type I collagen synthesis, resulting in joint hyper mobility

22
Q

What are the 4 main connective tissues? Embryologically, where do these come from?

A

Bone, cartilage, tendons and ligaments. These come from the mesoderm.

23
Q

In connective tissues, what is the exception which is mainly composed of type II collagen?

A

Articular (hyaline) cartilage

24
Q

How can Marfan’s Syndrome be inherited?

A

Sporadic or autosomal dominant

25
Q

Where is the mutation in Marfan’s Syndrome? What is this required for?

A

Fibrillin gene- a scaffold for elastin

26
Q

What are the major features of Marfan’s Syndrome?

A

Tall stature with disproportionately long limbs, hyper mobility (lax ligaments) and arachnodactyly

27
Q

What are some more specific features of Marfan’s Syndrome?

A

High arched palate, scoliosis, pectus excavatum, spontaneous pneumothorax

28
Q

What are some ocular problems which Marfan’s can cause?

A

Lens dislocation, glaucoma, retinal detachment

29
Q

Cardiac abnormalities may cause premature death in Marfan’s Syndrome. What are some features?

A

Aortic aneurysms, valve incompetence (particularly mitral regurgitation)

30
Q

Why are joint dislocations a problem in Marfan’s Syndrome?

A

Stabilisations do not work because the biological abnormality cannot be corrected

31
Q

Generalised familial joint laxity is normally inherited how?

A

Autosomal dominant

32
Q

People with generalised lax ligaments are more prone to what problems?

A

Soft tissue injury e.g. ankle sprain and recurrent dislocations of joints (especially shoulder and patella)

33
Q

Ehlor’s Danlos Syndrome is usually inherited how? It involves defects in a number of genes involved in what?

A

Autosomal dominant: genes involved in collagen and elastin formation

34
Q

What are the main features of Ehlor’s Danlos Syndrome?

A

Scoliosis, joint hypermobility and dislocations, vascular fragility and ease of bruising

35
Q

Stabilisation can be performed for dislocating joints in Ehlor’s Danlos Syndrome. Why can this be a problem?

A

Can have issues with bleeding and wound healing can be poor

36
Q

Down’s syndrome causes short stature and joint laxity which can predispose to what?

A

Recurrent dislocations (especially patella) and OA, atlanto-axial instability and spinal cord compression

37
Q

How are muscular dystrophies inherited? What does this mean?

A

X-linked recessive, hence they only affect boys

38
Q

Where is the defect in muscular dystrophy?

A

The dystrophin calcium gene

39
Q

What does muscular dystrophy lead to?

A

Progressive muscle weakness and wasting as the boy gets older

40
Q

What are some indications of / tests for muscular dystrophy?

A

Gower’s sign, raised CK, muscle biopsy

41
Q

Children with muscular dystrophy will usually be unable to do what by age 10? What will then ensue?

A

Unable to walk by age 10. Then progressive respiratory and cardiac failure until death in the early 20s.

42
Q

What are some supportive treatments for muscular dystrophy?

A

Physiotherapy, splintage, deformity correction

43
Q

How is Becker’s muscular dystrophy different to Duchenne?

A

Becker’s is less severe, boys will usually be able to walk in their teens and will survive into 30s/40s

44
Q

When should children be screened for muscular dystrophy?

A

If there is a positive family history

MSK- Paediatric Orthopaedics (6 decks)

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