Disorders of growth Flashcards

1
Q

What are some factors that cause disorders of growth?

A
  • Growth plate injury or arrest
  • Growth plate over stimulation
  • Lack of nutrition
  • Vitamin deficiency
  • Skeletal dysplasia
  • Hormonal
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2
Q

What are some causes of growth plate arrest?

A

Trauma
Infection
Tumours
Irradiation
Surgery
Compression
These can all partially or fully destroy the growth plate, leading to malformation or lack of growth of bone

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3
Q

Describe the Salter Harris classification of physeal trauma

A
  • S - Straight - The injury occurs straight through the physis
  • A - Above - The injury comes from above physis and moves into the physis
  • L - Lower - The injury comes from below the physis and moves into the physis
  • T - Through - The injury comes from either above or below and passes straight through the physis
  • R - cRush - The physis is crushed by the trauma
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4
Q

Dys -

A

Abnormal

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5
Q
  • plasia
A

Growth

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6
Q

Campto -

A

Bent

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7
Q

Acro-

A

Peripheral

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8
Q

Meso-

A

Middle

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9
Q

Rhizo-

A

Root/Central

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10
Q

Phoco-

A

Seal like

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11
Q

-melia

A

Relating to limbs

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12
Q

Thanato-

A

Death

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13
Q

Diatrophic

A

Twisting

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14
Q

Brachy-

A

Short

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15
Q

Spondylo-

A

Relating to the spine

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16
Q

Meta-

A

After or behind

17
Q

-Petrosis

A

Stone like

18
Q

What are the 4 main categories of skeletal dysplasia?

A
  • Chondrodysplasias - Cartilage
  • Tumour-like conditions
  • Altered bone density conditions
  • Storage disorders
19
Q

What are some examples of chondrodyspasias?

A
  • Achondroplasia
  • Pseudoachondroplasia
  • SED
  • MED
  • Metaphyseal chondrodysplasia
  • Diastrophic dysplasia
20
Q

What are some examples of tumour-like skeletal dysplastic conditions?

A
  • Multiple hereditary exostoses
  • Ollier’s disease
  • Fibrous dysplasia
  • Trevor’s disease
21
Q

What are some conditions that alter bone density?

A

Osteogenesis imperfecta
Osteoporosis

22
Q

What are some examples of skeletal dysplastic storage disorders?

A

Mucopolysaccharidoses:
- Morquio’s syndrome
- Hunter’s syndrome
- Hurler’s syndrome

23
Q

What is achondroplasia?

A

Achondroplasia is a spontaneous autosomal dominant condition, and is the most common form of skeletal dysplasia

It is the medical term for short stature (Dwarfism is no longer used)

24
Q

Describe the pathophysiology of achondroplasia

A

It causes rhizomelic dwarfism, affecting the proliferative zone of physis, leading to reduced longitudinal growth but normal circumferential growth

25
Q

What are some presentations of achondroplasia?

A
  • Short stature
  • Foramen magnum stenosis
  • Adenotonsillar hypertrophy
  • Hyperlordosis of the lumbar spine
  • Macrocephalt
  • Trident hands
  • Brachydactyly
  • Champagne glass pelvis
26
Q

What causes multiple hereditary exostoses?

A

Multiple hereditary exostoses is caused by an EXT gene mutation

27
Q

Describe the pathophysiology of multiple hereditary exostoses?

A

In this, benign cartilage-covered bony lesions form from the metaphyses, which can put pressure on local structures, cause reduced range of movement and distort growth

The lesions usually stop growing when the physes fuse

28
Q

What is a possible risk of multiple hereditary exostoses?

A

These lesions, if the cartilage cap thickens, can undergo malignant transformation

29
Q

What is osteogenesis imperfecta?

A

Osteogenesis imperfecta, also known as brittle bone disease, is a rare group of genetic disorders mainly affecting bone

30
Q

What causes osteogenesis imperfecta?

A

Oestogenesis imperfecta is caused by a defect in the maturation and orginisation of type I collagen, which accounts for most of the organic composition of bone

The majority of cases are autosomal dominant, however, there are some rarer, autosomal recessive types

31
Q

How will autosomal dominant osteogenesis imperfecta present?

A
  • Multiple fragility fractures in childhood
  • Short stature with multiple deformities
  • Blue sclera
  • Scoliosis
  • Coxa vara
  • Mitral valve prolapse
  • Dentinogenesis imperfecta (Disorder of tooth development)
32
Q

How will autosomal recessive osteogenesis imperfecta usually present?

A

Autosomal recessive osteogenesis imperfecta is usually either fatal during the perinatal period or is associated with spinal deformity

33
Q

How is osteogenesis imperfecta usually diagnosed?

A

Diagnosis is usually made using x-ray which will show thin bones with thin cortices

The bones will be osteopenic

In mild cases, x-rays may be relatively normal woth a history of low energy fractures

34
Q

How is osteogenesis imperfecta usually managed?

A

There is no cure for osteogenesis imperfecta, however, biphosphonates can be used to inhibit osteoclast activity

Most management is conservative with fracture fixation, deformity correction surgeries and splintage to aid healing and prevent callus formation as fracture heal abnormally

35
Q

What are muscopolysaccharidoses?

A

These are a group of conditions, in which there is an accumulation of glycosaminoglycan (GAG) breakdown products in multiple organs

36
Q

What are GAGs?

A

GAGs are carbohydrates used in connective tissue formation

37
Q

What are some examples of mucopolysacharidoses?

A
  • Morquio’s syndrome
  • Hunter’s syndrome
  • Hurler’s syndrome
38
Q

What are some signs and symptoms of mucopolysaccharidoses?

A
  • Proportionate dwarfism
  • C1-2 cervical instability
  • Abnormal epiphyses
  • Bullet shaped phalanges
  • Genu velgum (Bow legs)
  • Orgaomegaly
  • Cardiac disease
  • Deafness
  • Reduced IQ
39
Q
A