Lec. 1: Diseases and disorders of bone Flashcards

1
Q

Diseases and Disorders of bone can be divided into 4 different areas

A
  1. Responses to stress
  2. Congenital
  3. Disorders of epiphyses & epiphyseal growth
  4. Metabolic
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2
Q

(3) Bone disorders with the responses to Stress/Injuries

A

Altered deposition of bone

Altered resorption of bone

Mechanical failure (fracture)

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3
Q

Altered deposition of bone, can be and give an example

A
  • Localized or generalized, increased or decreased

- Osteoporosis: decreased bone deposition

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4
Q

Altered resorption of bone can be and give and example

A
  • Localized or generalized, increased or decreased

- Osteopetrosis: decreased bone resorption

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5
Q

Some examples of localized congenital abnormalities

A
  • Clubfoot
  • Coxa Vara
  • Congenital dislocation of hip
  • Congenital amputations
  • Nursemaid’s elbow
  • Spina Bifida
  • Hypoplasia of tibia, fibula, femur, radius, clavicle
  • Torticollis
  • Scoliosis
  • Sprengle deformity (micro scapula)
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6
Q

Some examples of Generalized congenital abnormalities

A
  • Osteogenesis Imperfecta
  • Achondroplasia
  • Marfan Syndrome (Hyperchondroplasia)
  • Osteopetrosis
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7
Q

Osteogenesis Imperfecta

A

Congenital osteoporosis → with resultant pathological fractures

Mutations of Type I collagen genes cortical thinning (Main type in bone and ligaments)

Four types classified

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8
Q

Osteogenesis Imperfecta type 1

A
  • most mild
  • most common
  • fractures appear after child starts walking
  • blue sclerae
  • head appears large compared to body
  • limbs deformed
  • deafness my occur
  • teeth may be affected
  • bones seem to strengthen after puberty
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9
Q

Osteogenesis Imperfecta type 2

A
  • most severe

- typically fatal in pre-natal period

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10
Q

Osteogenesis Imperfecta type 3

A
  • Severe
  • multiple fractures at birth
  • premature closing of epiphyseal plates –> skeletal deformity
  • -Kyphosis
  • -Scoliosis
  • -Dwarfism
  • Typically non-ambulatory
  • Sclerae blue at first and then turn white
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11
Q

Osteogenesis Imperfecta type 4

A
  • Similar to type 1
  • but, normal sclera
  • dentinogenesis imperfecta present
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12
Q

Which Osteogenesis Imperfecta is the most severe

A

Type 2

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13
Q

Which Osteogenesis Imperfecta has blue eyes

A

Type 1 and type 3. But type 3 later turns white

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14
Q

Which Osteogenesis Imperfecta has premature closing of epiphyseal plates

A

Type 3

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15
Q

What is the treatment for Osteogenesis Imperfecta

A
  • Prevent fractures: splinting and bracing
  • Treat fractures/surgical rods
  • Gene therapy
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16
Q

What is achondroplasia

A
  • Dwarfism
  • Autosomal dominant abnormality/spontaneous chromosomal defect
  • Limbs are shorter disappropriate to trunk (1/2 of normal length)
  • Failure of longitudinal growth in cartilage of epiphyseal plate
  • Normal cognition and normal life expectancy
  • Total height typically under 4 feet
  • may lead to spinal stenosis
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17
Q

Marfan syndrome is also known as

A

Hyperchondroplasia

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18
Q

Marfan’s Syndrome is

A
  • Autosomal dominant abnormality / spontaneous chromosomal defect
  • Excessive length of limbs due to excessive longitudinal growth in cartilage of epiphyseal plate - arm span greater than height
  • Systemic –affects vision and CV system
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19
Q

Musculoskeletal findings for someone with Marfan’s Syndrome

A
Muscular weakness
Joint laxity
Flat feet
Scoliosis
Depressed sternum

Treatment –sx for deformities if it affects function

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20
Q

What is osteopetrosis

A

Failure of osteoclasts to remove mineralized bone

Bone “piles up” Bone appear dense on X ray

Mechanically weak → fracture easily

Bone marrow displaced → anemia

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21
Q

Why is someone with osteopetrosis mechanically weak

A

bone is disorganised

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22
Q

What are the 2 forms of osteopetrosis

A

malignant infantile form

benign form

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23
Q

Explain the malignant infantile form of osteopetrosis

A
  • Recessive gene
  • Typically fatal by 10-years-old
  • Can be treated with bone marrow transplant
24
Q

Explain the benign form of osteopetrosis

A
  • Autosomal dominant

* Symptoms can include fractures, frequent infections, blindness, deafness, and strokes

25
Q

Generalized disorders of epiphyses & epiphyseal growth

A
  • marfan syndrome

- achondroplasia

26
Q

Localized disorders of epiphyses & epiphyseal growth

A
  • Osteochondroses
  • Partial avulsions
  • Disorders of growth plate (SCFE most common)
27
Q

Osteochondroses is and general features

A
  • Idiopathic disorders of the epiphyses with common denominator of avascular necrosis
  • Affects Boys > girls
  • Ages 3 - 10years
  • self limiting
  • has Four phases
28
Q

Phase 1 of Osteochondrosis

A
  • Quiet Phase
  • Obliteration of blood vessels to epiphysis –> decreased blood flow
  • No real symptoms, no real deformity
29
Q

Phase 2 of Osteochondrosis

A
  • Revascularization with deposition / resorption
  • Pathologic fracture of subchondral bone
  • Epiphysis may become deformed with abnormal forces
30
Q

Phase 3 of Osteochondrosis

A
  • Bone healing

* Bone deposition continues

31
Q

Phase 4 of Osteochondrosis

A

Residual deformity persists

32
Q

Name 3 Specific Conditions of Osteochondroses and which bones they affect

A

-Legg Perthes disease
(femoral head, 12% of cases bilateral)

-Panner disease
(Capitulum)

-Kienbock disease
(Lunate)

33
Q

*Legg Calve Perthes disease

A
  • Pain can be at the hip and can refer to the knee
  • flattened femoral head
  • femur is not in the correct position
  • loss of abduction noted
34
Q

What is a possible reason that a partial avulsion might happen and why?

A

-rapid growth spurt because wolff’s law hasn’t had time to make the bone strong

35
Q

Name two types of partial avulsions

A
  • osgood schlatter disease

- sever disease

36
Q

Osgood schlatter disease, where does it happen and who is at risk

A

Tibial tubercle

Boys typically 10-15 years old

37
Q

Sever disease, where does it happen and who is at risk

A

Calcaneal tubercle

Boys typically 8-15 yrs old

38
Q

What is the most common disorder of the growth plate

A

SCFE

39
Q

What does SCFE stand for

A

Slipped capital femoral epiphysis

40
Q

What are the general characteristics of SCFE

A
  • Boys > girls
  • ≥ 9 years old
  • 30% chance of subsequent involvement of second hip –Higher risk if endocrine imbalance
  • –> Adolescent male with underdeveloped genitalia and female fat distribution most at risk
41
Q

Does SCFE have a systemic component

A

*yes, someone is at a higher risk if they have an endocrine imbalance

42
Q

*Which condition affects abduction

A

Legg Calve Perthes disease

43
Q

*Which condition affects internal rotaton

A

SCFE

44
Q

How would someone present with slipped capital femoral epiphysis

A
  • Loss of IR
  • involved leg appears shorter
  • Requires surgery
45
Q

Name metabolic bone conditions (5)

A
  • Rickets/Osteomalacia
  • Osteoporosis
  • Hypopituitarism
  • Hyperpituitarism
  • Paget Disease
46
Q

what is rickets/osteomalacia

A
  • Rickets is a disease of children (growing bone), where as osteomalacia is an adult disease (after physis closed)
  • Both result in “soft bones”
  • Failure of calcium salts to deposit normally
  • Main causes include vitamin D deficiency, chronic renal insufficiency, and renal tubular insufficiency
47
Q

*What can a deficiency in vitamin D cause

A

rickets / osteomalacia

48
Q

What is the female-athlete triad and what is the other name for this

A

eating disorder, amenorrhea, and osteoporosis now called REDS

REDS

49
Q

What are common fracture sites for osteoporosis

A

vertebra
hip
wrist

50
Q

What is the most common metabolic bone disease

A

osteoporosis

51
Q

Someone with hyperpituitarism may develop

A

May develop arthritis, osteophytes, spine pain, etc.

52
Q

Acromegaly affects and what is the age of onset

A
  • Increase bone thickness affecting face, jaw, hands, feet
  • Typically ages 30-50 years old
53
Q

what is the second most common metabolic disease

A

paget disease

54
Q

What is paget disease

A
  • Progressive disorder
  • Excessive bone resorption and formation
  • High bone turnover with little structural stability
  • Adult disease equally affecting men and women -Systemic disease
55
Q

Paget disease Musculoskeletal manifestations

A
Pain
Fractures
Arthritis
Stiffness
Deformaities