Midterm BP3 Flashcards

1
Q

Osteoporosis Three types:

A

Generalized, regional, localized.

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2
Q

Osteoporosis Generalized:

A

Generalized: Age related, post- menopausal, steroid induced, heparin induced, multiple myeloma, metastasis, hyperparathyroidism, scurvy, osteomalcia, rickets, sickle cell anemia, osteogenesis imperfecta, etc.

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3
Q

Osteoporosis Regional:

A

Regional:disuse/immobilization,RSD

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4
Q

OP localized:

A

Localized: infection, inflammatory arthritis, neoplasm

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5
Q

Definition of Osteoporosis

A

A disease characterized by low bone mass and microarchitectural deterioration of bone tissue leading to enhanced bone fragility and a consequent increase in fracture risk.

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6
Q

Senile/Post-Menopausal Osteoporosis

GENERAL CONSIDERATIONS=

A

Increasing age results in generalized osteoporosis of the entire skeleton.

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7
Q

Senile/Post-Menopausal Osteoporosis CLINICAL FEATURES=

A

• Presentation is typically in the 5th and 6th decades.
• F>M, 4:1.
• Osteoporosis usually only causes pain when
complicated by fracture and deformity, especially in the spine.
• No laboratory findings are useful.

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8
Q

Osteoporotic-related Fractures Stats=

A

1.3+ million fractures annually
• ~ 500,000 – 750,000 spine
• ~ 250,000 hip
• ~ 240,000 wrist

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9
Q

Up to ___ per cent of elderly people with hip fracture die within 6 months of injury

A

30%

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10
Q

Senile/Post-Menopausal Osteoporosis

PATHOLOGICAL FEATURES=

A
  • Pathogenesis is unknown.
  • Bone quality is normal but deficient in its amount.
  • Resorption of cortical and medullary bone results in a thinned cortex and trabecular accentuation.
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11
Q

Senile/Post-Menopausal Osteoporosis

RADIOLOGICAL FEATURES=

A

• Increased bony radiolucency, cortical thinning, and altered trabecular patterns are the major signs.

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12
Q

Spine changes include accentuated vertical trabeculae “pseudo- hemangiomatous” appearance, “pencil” thin cortices and endplates, and general radiolucency.

A

Senile/Post-Menopausal Osteoporosis

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13
Q

What dz has Plana -“Pancake” vertebra=

A

Senile/Post-Menopausal Osteoporosis

-Need to differentiate from serious etiology especially metastatic carcinoma & multiple myeloma.

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14
Q

What dz has Wedged -Trapezoidal shape vertebra=

A

Senile/Post-Menopausal Osteoporosis

-Also present in traumatic compression fractures of spine.

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15
Q

What dz has BiconcaveEndPlates-“Fish”,”Codfish”, or “Hourglass” vertebra.

A

Senile/Post-Menopausal Osteoporosis

-May see at multiple contiguous levels.

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16
Q

What dz has Isolated End Plate Infraction

A

Senile/Post-Menopausal Osteoporosis

  • Often only depicted in a single view (oblique).
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17
Q

What dz has Schmorl’s Nodes?

A

Senile/Post-Menopausal Osteoporosis

-localized intrabody discal herniations.
• Most common in thoracic and upper lumbars.

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18
Q

Pseudohemangiomatous appearance of osteoporosis occurs in advanced cases of _______.

A

Senile/Post-Menopausal Osteoporosis

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19
Q

Senile/Post-Menopausal Osteoporosis

• PELVIS AND FEMORA=

A
  • Additionally prone to fractures in the pubic rami and femoral neck.
  • Principal compressive group of trabeculae in the femur is the last to be obliterated.
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20
Q

Proximal Femora Stress Lines=

A
#1-PRINCIPAL COMPRESSIVE GROUP 
#2- PRINCIPAL TENSILE GROUP 
#3-SECONDARY COMPRESSIVE GROUP 
#4W - WARD'S TRIANGLE
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21
Q

Senile/Post-Menopausal Osteoporosis most common other associated fractures involve the _____.

A

distal radius (COLLES’ fracture), humeral neck, and ankle malleoli.

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22
Q

Senile/Post-Menopausal Osteoporosis Insufficiency fractures:

A

sacrum(H/I/arc), pubis, medial femoral necks, tibia/fibula, calcaneus, metatarsals

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23
Q

Quantify bone mineral and fracture risk assessment with _____.

A

• DXA (DEXA) (dual energy x-ray absorptiometry)

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24
Q

Dual Energy X-ray Absorptiometry

Advantages=

A
  • Considered gold standard
  • Hip/spine/wrist measurements • Low radiation exposure
  • Moderate to low cost per test • May perform serial tests
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25
Q

DXA Scan Printout=

A
  • Image of anatomic part being scanned
  • Graph that plots bone mineral density for that part against patient’s age
  • Numeric data
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26
Q

DXA Numeric data that summarize the findings=

A
  • BMD values for individual regions of interest
  • BMD as a % of young-adult population
  • BMD as a % of age-matched population
  • T-scores and Z-scores (number standard deviations above and below mean)
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27
Q

BMD Categories – WHO Classification

A
Category          Criteria / T-score
Normal=            > -1
Osteopenia=      -1 and -2.5
Osteoporosis=    < -2.5
Severe osteoporosis= < -2.5 and fragility fracture
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28
Q

Normal BMD=

A
BMD or BMC within 1 standard deviation of young adult
reference mean (T-score between +1.0 and –1.0)
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29
Q

Low bone mass (osteopenia) BMD=

A

BMD or BMC more than 1 standard deviation below young adult mean, but less than 2.5 standard deviation (T-score between –1.0 and –2.5)

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30
Q

Osteoporosis BMD=

A

•BMD or BMC 2.5 standard deviations between the young adult mean (T-score of –2.5 or less)

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31
Q

Severe (established) osteoporosis BMD=

A

• T-score of 2.5 or less and fragility fracture(s)

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32
Q

Estimation of relative risk of fracture for OP=

A

• Each standard deviation change in BMD increases fracture risk by approximately a factor of 2
• Relative fracture risk = 2^T-Score (i.e.: T-score= -3.0; 2^3 = 8x more likely to fx vs. young
healthy adult)

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33
Q

• Relative OP fracture risk can also be compared with _____.

A

age-matched peers (Z-score)

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34
Q

Each standard deviation change in BMD increases fracture risk by approximately a factor of ____.

A

2

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35
Q

Z-scores are useful if they show that a patient’s BMD is significantly below an age- matched group; this finding should prompt a more aggressive search for a _____.

A

secondary cause of osteoporosis.

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36
Q

Laboratory Evaluation is Recommended if Z-score less than ____.

A

–2.0

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37
Q

Secondary causes of osteoporosis=

A
  • Serum calcium and phosphate (to exclude HPTH);
  • Alkalinephosphatase (to exclude liver disease, osteomalacia, Paget’s disease);
  • Blood urea nitrogen,creatinine,eletrolytes(to exclude renal disease);

• Thyroid function tests (to exclude
hyperthyroidism);

  • Protein electrophoresis (to exclude MM);
  • Free testosterone (to exclude male hypogonadism)
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38
Q

Follow-up Scans done at Interval of _____, under most circumstances.

A

2 years

• Rapid bone turnover (high-dosecorticosteroids)–
6 months interval

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39
Q

REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
GENERAL CONSIDERATIONS=

A

A post-traumatic bone disorder characterized by an acute painful osteoporosis.

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40
Q

REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
CLINICAL FEATURES=

A
  • > 50 yrs. of age
  • History of recent trauma which may have been trivial.
  • Progressive pain, swelling, and atrophy distal to the trauma site.
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41
Q

REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
PATHOLOGICAL FEATURES=

A

Neurovascular imbalance, promoting osseous hyperemia.

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42
Q

REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
RADIOLOGICAL FEATURES

A
  • Patchy, mottled osteoporosis.
  • Metaphyseal localization.
  • Later, more generalized osteoporosis.
  • No joint disease.
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43
Q

REGIONAL OSTEOPOROSIS

DISUSE AND IMMOBILIZATION OSTEOPOROSIS=

A

• Traumatic injuries which are immobilized, motor paralysis, and inflammatory lesions of bones and joints constitute the most common causes of regional osteoporosis.

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44
Q

DISUSE AND IMMOBILIZATION OSTEOPOROSIS Changes appear on x-ray after ___ days, becoming most extreme by _____.

A

7-10 days, 2-3 months

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45
Q

REGIONAL OSTEOPOROSIS
DISUSE AND IMMOBILIZATION OSTEOPOROSIS
Four radiological patterns of disuse atrophy:

A
  • 1) Uniform: All bones involved exhibit a similar degree of bone loss. This is the most common type.
  • 2) Spotty: Localized circular lucencies predominate, especially within the epiphyseal portions of the bones.
  • 3) Bands: Linear transverse subchondral or metaphyseal lucent zones.
  • 4) Cortical Lamination or Scalloping: Loss of definition in the outer and inner cortical margins may occur.
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46
Q

If function is restored to the involved body part, complete restitution to a normal appearance may be anticipated in what dz?

A

DISUSE AND IMMOBILIZATION OSTEOPOROSIS

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47
Q

What dz has No associated etiology, and is Sudden and reversible?

A

REGIONAL OSTEOPOROSIS

TRANSIENT REGIONAL OSTEOPOROSIS

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48
Q

TRANSIENT REGIONAL OSTEOPOROSIS Affects periarticular bones.

Two entities:

A

1) TRANSIENT OSTEOPOROSIS OF THE HIP

2) REGIONAL MIGRATORY OSTEOPOROSIS

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49
Q

TRANSIENT OSTEOPOROSIS OF THE HIP=

A
  • 20 to 40 yrs.; M>F.
  • Associated w/pregnancy in females, left hip exclusively.
  • Marked osteoporosis of the femoral head; less severe in femoral neck and acetabulum.
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50
Q

REGIONAL MIGRATORY OSTEOPOROSIS=

A
  • M>F
  • Prefers lower extremities (foot, ankle, etc.).
  • Localized, regressing, migratory osteoporosis.
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51
Q

LOCALIZED OSTEOPOROSIS=

A
  • Inflammatory Arthritis (i.e. Rheumatoid Arthritis)
  • Infection
  • Neoplasm
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52
Q

OSTEOMALACIA

GENERAL CONSIDERATIONS=

A

• A disorder characterized by a lack of osteoid mineralization leading to generalized bone softening.

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53
Q

OSTEOMALACIA CLINICAL FEATURES=

A
  • Muscle weakness, bone pain, and deformities.
  • Elevated parathormone, alkaline phosphatase, and urinary hydroxyproline
  • Normal to decreased calcium and phosphorous.
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54
Q

OSTEOMALACIA PATHOLOGICAL FEATURES=

A
  • Increased amounts of uncalcified osteoid tissue (“osteoid seams”).
  • Pseudofractures–probably insufficiency fractures healing with uncalcified osteoid.
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55
Q

Alternate Terms for Pseudofractures:

A

Increment fractures, Milkman’s syndrome, Loosers lines, Umbau zonen

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56
Q

OSTEOMALACIA RADIOLOGICAL FEATURES=

A
  • Decreased bone density (all bones)
  • Coarse trabecular pattern (decrease in overall bony trabeculae enhances the contrast of those remaining causing texture to appear coarse and mottled)
  • Loss of cortical definition (is thinner and mottled)
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57
Q

OSTEOMALACIA

RADIOLOGICAL FEATURES continued=

A
  • Pseudofractures (see in Paget’s disease, fibrous dysplasia, rickets) are recognized by their bilateral symmetry and perpendicular orientation to the cortex.
  • Deformities (majority in weight bearing bones)
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58
Q

• Systemic skeletal disorder due to a deficiency primarily of vitamin D=

A

Rickets

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59
Q

• Three forms of rickets:

A
  • 1) Vitamin D Deficiency. A lack of dietary vit. D or natural light exposure
  • 2) Renal Osteodystrophy. (Renal Rickets) Chronic renal disease
  • 3) Renal Tubular Defect. A failure to resorb phosphate in the urine interferes w/osseous mineralization due to the lack of phosphate
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60
Q

RICKETS

CLINICAL FEATURES=

A
  • Ages 6 months to 1 year
  • Growth plate swellings
  • Irritability
  • Deformities
  • Tetany
  • Delayed maturity
  • Weakness
  • Elevated alkaline phosphatase levels
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61
Q

RICKETS

PATHOLOGICAL FEATURES=

A

• Growth plate cartilage hypertrophies; fails to mineralize or degenerate.

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62
Q

RICKETS

RADIOLOGICAL FEATURES=

A
• Generalized osteopenia 
• Coarse trabecular changes 
• Widened growth plates
• Rachitic (costal) Rosary 
• Absent zone of provisional
calcification
• Frayed "paintbrush" and cupped metaphyses
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63
Q

SCURVY (Barlows Disease)=

A
  • Vitamin C (ascorbic acid) deficiency.
  • Capillary fragility.
  • 4-10 months to develop.
  • Few radiographic signs in adults, osteopenia.
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64
Q

SCURVY

CLINICAL FEATURES=

A
  • Latent period of months
  • Usually aged 4-14 months
  • Spontaneous hemorrhages
  • Swelling
  • Irritability
  • Pain
  • Lyingmotionless (“frog-legged”)
  • Costal Rosary (Scorbutic Rosary)
  • Serumascorbicacid,0.6mg/100ml
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65
Q

SCURVY PATHOLOGICAL FEATURES=

A

• Depresses intercellular substance formation, especially in connective tissue, cartilage, and bone

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66
Q

SCURVY RADIOLOGICAL FEATURES=

A
  • A combination of abnormalities occurring at the growing ends of long bones represent the most characteristic findings
  • Osteoporosis
  • Dense zone of provisional calcification (White Line of Frankel)
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67
Q

SCURVY

RADIOLOGICAL FEATURES=

A
  • Ring epiphysis (Wimberger’s sign)
  • Pelken’s spurs
  • Scorbutic zone (Trummerfeld zone)
  • Subperiosteal hemorrhages (due to the deficiency of intercellular cement which in turn promotes vascular fragility)
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68
Q

HYPERPARATHYROIDISM

GENERAL CONSIDERATIONS=

A

• Increased parathyroid activity liberates parathormone, which exerts a strong osteoclastic effect on the skeleton.

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69
Q

HYPERPARATHYROIDISM CLINICAL FEATURES=

A
  • Three forms—primary (Parathyroid tumor), secondary (renal disease), and tertiary (renal dialysis)
  • F>M, 3:1
  • 30-50 years of age
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70
Q

HYPERPARATHYROIDISM

CLINICAL FEATURES=

A
  • Weakness
  • Lethargy
  • Polydipsia
  • Polyuria
  • Elevated alkaline phosphatase and parathormone levels
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71
Q

HYPERPARATHYROIDISM PATHOLOGICAL FEATURES=

A
  • Osteoclastic and osteolytic resorption with fibrous tissue replacement (osteitis fibrosa cystica)
  • Brown tumors due to hemorrhagic giant cell proliferations
  • Hallmark is subperiosteal bone resorption
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72
Q

HYPERPARATHYROIDISM

RADIOLOGICAL FEATURES=

A
  • Bone changes consist of:
  • Osteopenia
  • Accentuated trabecular patterns
  • Subperiosteal resorption
  • Loss of cortical definition
  • Brown Tumors
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73
Q

HYPERPARATHYROIDISM

TARGET SITES: Hand=

A

• Hand: Subperiosteal resorption, radial margins of the proximal and middle phalanges of the 2nd and 3rd digits, w/acroosteolysis.

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74
Q

HYPERPARATHYROIDISM

TARGET SITES: Skull=

A

• Skull: “Salt and pepper”, resorption of lamina dura.

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75
Q

HYPERPARATHYROIDISM

TARGET SITES: Spine=

A

• Spine: Osteopenia, trabecula accentuation, end plate concavities, “rugger jersey” spine, widened sacroiliac joints.

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76
Q

3 HYPERPARATHYROIDISM

TARGET SITES:

A

Spine, Skull, Hand

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77
Q

HYPERPARATHYROIDISM

RADIOLOGICAL FEATURES=

A
  • Soft tissue changes include:
  • Nephrocalcinosis • Renal calculi • Chondrocalcinosis
  • Calcification in various periarticular tissues and visceral organs
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78
Q

ACROMEGALY

GENERAL CONSIDERATIONS=

A
  • Pituitary eosinophilic adenoma secreting growth hormone after the growth plates have fused.
  • Excessive production of growth hormone prior to the closure of the long bone growth centers will manifest as gigantism.
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79
Q

ACROMEGALY

CLINICAL FEATURES=

A
  • Facial changes such as prominent forehead.
  • Thickened tongue.
  • Broadandlargehands.
  • Predisposition to degenerative arthritis, especially of the spine and weightbearing joints.
  • Predispositiontocarpaltunnelproblems.
80
Q

ACROMEGALY

PATHOLOGICAL FEATURES=

A

• Activation of periosteal appositional new bone, articular cartilage proliferation, and subcutaneous hyperplasia.

81
Q

ACROMEGALY

RADIOLOGICAL FEATURES=

A
  • Heel pad greater than 20mm (approx. 1 inch)
  • Skull: Sella turcica enlargement (d/t pituitary neoplasm), sinus overgrowth, malocclusion, widened mandibular angle (prognathism).
82
Q

ACROMEGALY RADIOLOGICAL FEATURES=

A
  • Hand: Widened shafts, bony protuberances, enlarged distal tufts (“spade-like”), and widened joint spaces (d/t cartilage overgrowth).
  • Spine: Increased size, hyperostoses, widened disc heights, and posterior body scalloping.
83
Q

CUSHING’S DISEASE AND STEROID-INDUCED OSTEONECROSIS

CLINICAL FEATURES=

A
  • Produced by the presence of excessive quantities of glucocorticoid steroids released by the adrenal cortex.
  • Occasionally, an anterior pituitary neoplasm may produce the identical clinical feature.
  • Thepatientisobese,esp.intheupper thorax and face (“moon face“).
84
Q

CUSHING’S DISEASE AND STEROID-INDUCED OSTEONECROSIS

CLINICAL FEATURES=

A
  • Patient has accelerated hair growth and hypertension.
  • Deposition of fat over the upper thoracic spine creating a distinct soft tissue protuberance (“buffalo hump”).
  • Purple stria may be seen on the abdomen and axillae.
85
Q

Osteoporosis of Cushing’s disease:

A
  • Cortices will be thinned, density diminished, and deformities evident.
  • Biconcave end plate configurations.
86
Q

• Cushing’s disease and steroid induced Osteonecrosis:

A
  • Seen in femoral & humeral heads, distal femora, & talus.
  • Collapse of a vertebral body following steroid medication from ischemic necrosis can be recognized by the “intravertebral vacuum cleft sign”
87
Q

Achondroplasia GENERAL CONSIDERATIONS=

A

• The most common form of dwarfism.

 Is a hereditary, autosomal dominant disturbance in epiphyseal-chondroblastic growth and maturation.

88
Q

Achondroplasia Synonyms:

A

Chondrodystrophia Fetalis, Chondrodystrophic dwarfism, and Micromelia.

89
Q

Achondroplasia Etiology=

A

• Etiology is unknown.
 Parents are normal in 90% of cases; offspring of 2 achondroplastics often manifest a severe form (homozygous) which is usually lethal within the 1st weeks of life.

90
Q

Achondroplasia CLINICAL FEATURES of the back and abodomen=

A

 The abdomen is protuberant, and the buttocks are prominent.
 Thoracolumbar kyphosis often develops.

91
Q

Achondroplasia CLINICAL FEATURES=

A

• Elbow deformities with limitation of supination and extension.
 Flexion contractures of the hips, and genu varum.
 “Trident Hand”

92
Q

_______ May die at birth due to a difficult delivery, a small foramen magnum, or a constricted thorax.

A

Achondroplasia

93
Q

What is Trident hand?

A

“Trident Hand” due to a separation of the 3rd and 4th digits and the inability to approximate them in extension. Seen in achondroplasia.

94
Q

Rolling gait is caused by the posterior tilt of the pelvis and posterior angulation of the hip joints is associated with what dz?

A

Achondroplasia

95
Q

Achondroplasia NEUROLOGICAL COMPLICATIONS in infants=

A

• In the infant the small foramen magnum and hydrocephalus can lead to cord compression.

96
Q

In ____ the Most significant complication in adulthood is congenital spinal stenosis, often leading to paraplegia.

A

Achondroplasia

97
Q

Four clinical syndromes caused by spinal stenosis in Achondroplasia:

A
  • 1) Nerve root compression caused by disc herniation and osteophyte formation
  • 2) Transverse myelopathy developing over several years and associated with severe kyphosis
  • 3) Acute transverse myelopathy, with sudden paraplegia following trauma
  • 4) Intermittent claudication of the cauda equina, possibly due to ischemia. Patients have symptoms suggesting vascular disease of the lower extremities associated with activity.
98
Q

Achondroplasia PATHOLOGICAL FEATURES=

A

• Major abnormality is failure of normal enchondral cartilage growth at the physis (esp. centers at base of skull & end of long bones).
 Periosteal and membranous ossification are normal.

99
Q

Achondroplasia RADIOLOGICAL FEATURES=

A

 Base of the skull (formed by enchondral ossification) is small, often with a stenotic foramen magnum.
 Brachycephaly: large cranium though short
in ant-post. dimension.
 Prominent frontal bones and small nasal bone.

100
Q

In achondroplasia, most characteristic radiographic features are found in the _______.

A

skull, spine, pelvis, and limbs.

101
Q

Basilar impression is frequent in what dz?

A

achondroplasia

102
Q

In Achondroplasia, Tubular bones of hands and feet are______.

A

short

and thick.

103
Q

Symmetrical shortening of all long bones, with promimal portions being most affected=

A

achondroplasia

104
Q

What happens to bone end and shafts with achondroplasia?

A

 Bone ends are often splayed, with metaphyseal cupping.

 Relative widening of the shafts.

105
Q

With achondroplasia the pelvis is _______.

A

small and looks like a champagne glass (“champagne glass pelvis”)

106
Q

In Achondroplasia, what happens to cartilage?

A

Excessive thickening of the “Y” cartilage.

 Amount of cartilage in spine is increased, causing the height of the discs to equal that of the vertebral bodies.

107
Q

What is the most common radiographic finding with achondroplasia?

A

 Posterior scalloping of the bodies is common (most important finding).

108
Q

 The interpedicular spaces _______ caudally in the lumbar region, whereas they ______ from L1 to L5 in the normal individual (therefore narrowing of spinal canal).

A

Interpedicular spaces DECREASE caudally and INCREASE from L1 to L5

109
Q

Achondroplasia has exaggerated lumbar lordosis, complicated

by a horizontally oriented _____.

A

sacrum

110
Q

Acetabulae in Achondroplasia=

A

 Acetabulae are horizontally oriented appearing “spatulated” or “paddle shaped” pelvis due to the tilting of the pelvis.

111
Q

Angular kyphosis develops at the T-L junction, resulting from anteriorly wedged or “bullet-nosed” vertebra with what dz?

A

achondroplasia

112
Q

T/F Pedicles are short and thick with AC.

A

T

113
Q

Prominent buttock tissue on x-ray=

A

Achondroplasia

114
Q

Achondroplasia Differential Diagnosis:

A

Mucopolysaccharidoses, trisomy, and spondyloepiphyseal dysplasia.

115
Q

Osteogenesis Imperfecta=

A

• A generalized inheritable disorder of connective tissue with widespread abnormalities (thought to be autosomal dominant).

116
Q

With OI, The most serious involvement is in the _______, but also see changes in ligaments, skin, sclera, the inner ear, and dentition.

A

skeleton

117
Q

Osteogenesis Synonyms:

A

Osteopsathyrosisidiopathica, Mollities ossium, fragilitas ossium, and Lobstein’s disease.

118
Q

Three major clinical criteria for Osteogenesis Imperfecta diagnosis:

A

1) osteoporosis with abnormal fragility of the skeleton
2) blue sclerae

3) abnormal dentition
(dentinogenesis imperfecta).

• Only 2 of these need be present for diagnosis.

119
Q

Osteogenesis Imperfecta Other nonskeletal findings:

A

• generalized ligamentous laxity
• episodic diaphoresis (sweating) with abnormal
temperature regulation

  • easy bruising, hyperplastic scars
  • premature vascular calcification.
120
Q

What dz can have premature otosclerosis with resultant hearing loss?

A

osteogenesis imperfecta

121
Q

Two forms of Osteogenesis Imperfecta=

A
  1. ) Congenita

2. ) Tarda (often with normal life expectancy).

122
Q

Osteogenesis Imperfecta Congenita

A

high rate of stillborns and

infant mortality

123
Q

Osteogenesis Imperfecta Tarda has 2 main subdivisions:

A

a) Type I with acquired bowing
(DDx: Rickets)

b) Type II with no bowing deformities.

124
Q

T/F: Osteogenesis Imperfecta M=F in predominance; found in all races.

A

T

125
Q

OI Severe congenita form is characterized by:

A
  • Osseous fractures and deformities which often are observable in utero
  • Skull is paper thin and soft
  • Death occurs in utero, during birthing process or shortly thereafter
  • Usually following intracranial hemorrhage
126
Q

Osteogenesis Imperfecta Fractures following trivial trauma occur during ________.

A

childhood, after puberty and, more rarely later in adulthood

127
Q

T/F: O.I. tarda is less severe and has a widely varied presentation.

A

T

128
Q

Blue sclerae are found in majority of individuals (90%) and result from appearance of brown choroid when seen through the abnormal collagen in the thin sclera=

A

O.I.

129
Q

What is Saturn’s Ring associated with?

A

O.I.

Withering of normally colored sclera called “Saturn’s ring” often surrounds the cornea

130
Q

Bluish-gray to yellowish-brown opalescent teeth (enamel is normal) with what dz?

A

Osteogenesis Imperfecta

131
Q

O.I. tarda associated findings=

A
  • Otosclerosis
  • Abnormal temperature regulation
  • Defect in platelet aggregation results in bleeding tendencies
  • Most show growth retardation • Severely affected are dwarfed
  • Bone fragility appears to decrease with increasing age.
132
Q

T/F: Estrogen therapy has shown some benefit for treating OI tarda.

A

T

133
Q

Why is there muscle wasting associated with OI?

A

Muscle wasting because the patient is unable to move.

134
Q

In OI tarda, is the Upper Extremity or LE affected more?

A

Lower extremity affected more

135
Q

Defect in platelet aggregation results in bleeding tendencies in what condition?

A

OI tarda

136
Q

Osteogenesis Imperfecta

PATHOLOGICAL FEATURES=

A
  • Characterized by abnormal maturation of collagen affecting both intramembranous and enchondral bone formation.
  • Primitive fetal collagen and bone are NOT replaced with mature lamellar and woven bone.
137
Q

• An enzyme deficiency (ATPase) maybe cause _____.

A

Osteogenesis Imperfecta

138
Q

Osteogenesis Imperfecta Cardinal roentgen features=

A

area of diffuse decrease in bone density, pencil-thin cortices, and multiple fractures

139
Q

Three subgroups of OI based on radiographic findings:

A

1) thin and gracile bones (most frequent, usually tarda patients.)
2) short, thick bones (congenita patients)
3) cystic bones (rare)

140
Q

Osteogenesis Imperfecta Metaphyseal regions are ______.

A

flared and radiolucent (may go into diaphysis.)

141
Q

Multiple fractures, often ______ and in the lower extremities, are the hallmarks of O.I.

A

transverse

142
Q

What dz has subsequent healing with tumoral callus leading to shortening, bowing deformities, and pseudarthroses?

A

OI

143
Q

• “Pseudotumors”=

A

=excessive callus formation

• Seen in OI; DDX osteosarcoma.

144
Q

Osteogenesis Imperfecta

RADIOLOGICAL FEATURES=

A
  • Biconcave lens vertebra.

* Premature degenerative joint disease and protrusio acetabuli.

145
Q

______ is a frequent finding of OI and may

be accompanied by basilar impression.

A

Platybasia

146
Q

What dz has persistent Wormian bones, and kyphoscoliosis?

A

Osteogenesis Imperfecta

147
Q

• Faulty ossification of intramembranous bone, thus skull and clavicles primarily affected in what dz?

A

Cleidocranial Dysplasia

148
Q

Brachycephaly, wormian bones, small facies due to underdeveloped sinuses=

A

Cleidocranial Dysplasia

149
Q

Cleidocranial Dysplasia has a lack of development of one or all three _________.

A

three clavicular ossification centers

150
Q

What are the Midline defects with Cleidocranial Dysplasia:

A

SBO, metopic suture, wide pubic symphysis

151
Q

What dz has an accessory ossification center in metacarpal?

A

Cleidocranial Dysplasia

152
Q

Cleidocranial Dysplasia presents with a _____ head, ______ shoulders.

A

Large head and drooping hypermobile shoulders

153
Q

• An uncommon autosomal dominant disorder which affects ossification of mainly intra- membranous bones and is characterized by skull and clavicular anomalies and midline defects.

A

Cleidocranial Dysplasia

• The condition is congenital and has an extremely varied presentation.

154
Q

Cleidocranial Dysplasia Cases with out clavicular or cranial findings are called _______.

A

“mutational dysostosis”

155
Q

Typical individual presents with a large head, Chest narrowed or cone shaped, small face, and drooping shoulders=

A

Cleidocranial Dysplasia

156
Q

Does Cleidocranial Dysplasia have Normal mental status, and normal laboratory findings?

A

yes

157
Q

T/F: In Cleidocranial Dysplasia, small stature is common, but dwarfism isn’t a usual feature.

A

T

158
Q

• Cleidocranial Dysplasia has Gait disturbance due to ______.

A

deformities of the hips and femurs

159
Q

• Abnormal dentition with severe caries and periodontitis are the most common complaints of what dz?

A

Cleidocranial Dysplasia

160
Q

_________ produces extreme mobility of the shoulders allowing some patients to touch shoulders together under the chin in Cleidocranial Dysplasia.

A

Clavicular hypoplasia or a genesis

161
Q

With Cleidocranial Dysplasia early in infancy there is delayed or absent ossification of the ______.

A

calvarium

162
Q

With time, multiple wormian bones are for median the sutures and often the metopic (fetal) suture persists in what dz?

A

Cleidocranial Dysplasia

163
Q

What is hot cross bun radiographic finding?

A

Widening of the principal sutures (sagittal and coronal) gives a “hot cross-bun” appearance in Cleidocranial Dysplasia.

164
Q

General Skull Xray findings with Cleidocranial Dysplasia=

A
  • Marked brachycephaly (enlarged width).

* Supra orbital region, temporal squama, and occipital bone are frequently thickened.

165
Q

With CD, The foramen magnum is deformed and _______.

A

enlarged

166
Q

Cleidocranial Dysplasia Nasal bones may fail to ossify and the paranasal sinuses are _______.

A

hypoplastic

167
Q

Maxilla is small, mandible is large, and mandibular suture closes late in what dz?

A

Cleidocranial Dysplasia

168
Q

What does Cleidocranial Dysplasia do to dentition and the palate?

A
  • High arched or cleft palate is not uncommon.

* Delayed and defective dentition is a prominent and often symptomatic finding.

169
Q

Cleidocranial Dysplasia effects on THORAX=

A
  • Anomalous clavicular development is a nearly constant finding
  • In 10% of cases the clavicle is completely absent
  • A pseudo-arthrosis may develop when the middle portion is missing
  • Scapulae are often small, winged, or even elevated
  • Shoulder girdle deformities allow great mobility of the shoulders
  • Ribs are usually normal & chest is narrow and cone-shaped
170
Q

Cleidocranial Dysplasia effects on Pelvis=

A
  • Bones of the pelvis are small and underdeveloped, forming a small pelvic bowl.
  • Midline defect at the pubic symphysis is common
  • Valgus and varus deformities of the femoral neck are frequent
  • Lateral notching of the capital femoral epiphysis has been reported
171
Q

Cleidocranial Dysplasia effects on Spine=

A

-Multiple spina bifida defects

•Neural arch defects and hemivertebrae

172
Q

Cleidocranial Dysplasia effects on Extremeties=

A

EXTREMITIES
•The most marked changes are found in the hands, where an accessory epiphysis for the base of the 2nd metacarpal occurs, creating an enlongated digit

  • Distal phalanges are hypoplastic and often pointed
  • Similar changes may be found in the feet but are far less common
  • Shortening of the radius with an abnormal wrist articulation is occasionally seen
173
Q

Complications of Cleidocranial Dysplasia

A

Complications

•Hearing loss, Severe dental problems, Shoulder and hip dislocations and scoliosis

174
Q

Tall, slender with muscular hypoplasia, Dissecting aortic arch aneurysms, Scoliosis common, joint laxity & dislocations=

A

Marfan’s

• Long slender bones, “Arachnodactyly”

175
Q

What dz has a possible C1-2 instability?

A

Marfan’s

176
Q

What are marfan’s effects on the eye?

A

Lens dislocation, retinal detachment, cataracts

177
Q

What dz has normal bone density, Tall vertebrae, post. scalloping, and muscular hypoplasia?

A

Marfan’s

178
Q

What autosomal dominant dz

consists of long, slender tubular bones, ocular abnormalities, and aneurysm of the aorta?

A

Marfan’s

179
Q

Marfan’s Synonyms:

A

Arachnodactyly and Dolchostenomelia

180
Q

Tall, slender and hypo-muscularpersons, Trunk appears short due to severe hyperkyphosis=

A

Marfan’s

181
Q

T/F: Marfan’s has no sexual or racial predominance.

A

T

182
Q

Describe Marfan’s Extremities=

A

•Extremities are markedly elongated, with very sparse soft tissue.

183
Q

Where is elongation most pronounced in Marfan’s?

get your mind out of the gutter

A

• Elongation of the tubular bones (trunkis spared) is most marked in the distal portion of the extremities, especially the phalanges, metacarpals, and metatarsals.

184
Q

What extremity grows more in Marfan’s?

A

• Lower extremity exhibits greater overgrowth than the upper.

185
Q

What is the consequence of Marfan’s joint laxity?

A

• Under development and hypotonicity of the muscular system contributes to joint laxity and dislocation (hypermobility leads to the dislocation, Ehlers Danlos also causes this type of laxity).

186
Q

What dz has associated findings: hip dislocations, genu recurvatum, patellar dislocations, and pes planus?

A

Marfan’s

187
Q

T/F Marfan’s affected individuals are >6feet.

A

T, generally

• Normal mental capacity.

188
Q

Marfan’s Scoliosis in approximately ____% of patients.

A

45%

189
Q

Classically, the skull reveals dolichocephaly

(having a disproportionately long head)=

A

Marfan’s

190
Q

What’s a Marfan’s face?

A
  • Face is elongated, with a high, arched palate and prominent jaw.
  • Poor dentition is frequent, often with 2 rows of misplaced, long teeth.
191
Q

What happens to Marfan eyes?

A
  • Approximately 50% of cases have dislocation of the ocular lens.
  • Myopia and contracted pupils (secondary to absence of the dilator m. of the pupil) are frequently encountered.
192
Q

Inapprox. 1/3 of affected individuals see some form of congenital heart dis. & cardiac abnormalities which contributes to shortened life span=

A

Marfan’s

193
Q

Marfan’s most frequent congenital heart lesion=

A

• Atrial septal defect is the most frequent congenital heart lesion.

194
Q

T/F: Pathologically, Marfan’s is a connective tissue disorder, with a failure to produce normal collagen (aortic bulb is enlarged).

A

T

195
Q

What is the floppy valve associated with Marfan’s?

A

“Floppy valve” syndrome (due to dilation of the ascending aorta, along with abnormalities of the valves, leading to valvular incompetence and left-sided insufficiency)

196
Q

Marfan’s labs=

A

• Etiology unknown with no consistently abnormal lab findings.