Midterm BP3 Flashcards
(196 cards)
1
Q
Osteoporosis Three types:
A
Generalized, regional, localized.
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.
3
Q
Osteoporosis Regional:
A
Regional:disuse/immobilization,RSD
4
Q
OP localized:
A
Localized: infection, inflammatory arthritis, neoplasm
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.
6
Q
Senile/Post-Menopausal Osteoporosis
GENERAL CONSIDERATIONS=
A
Increasing age results in generalized osteoporosis of the entire skeleton.
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.
8
Q
Osteoporotic-related Fractures Stats=
A
1.3+ million fractures annually
• ~ 500,000 – 750,000 spine
• ~ 250,000 hip
• ~ 240,000 wrist
9
Q
Up to ___ per cent of elderly people with hip fracture die within 6 months of injury
A
30%
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.
11
Q
Senile/Post-Menopausal Osteoporosis
RADIOLOGICAL FEATURES=
A
• Increased bony radiolucency, cortical thinning, and altered trabecular patterns are the major signs.
12
Q
Spine changes include accentuated vertical trabeculae “pseudo- hemangiomatous” appearance, “pencil” thin cortices and endplates, and general radiolucency.
A
Senile/Post-Menopausal Osteoporosis
13
Q
What dz has Plana -“Pancake” vertebra=
A
Senile/Post-Menopausal Osteoporosis
-Need to differentiate from serious etiology especially metastatic carcinoma & multiple myeloma.
14
Q
What dz has Wedged -Trapezoidal shape vertebra=
A
Senile/Post-Menopausal Osteoporosis
-Also present in traumatic compression fractures of spine.
15
Q
What dz has BiconcaveEndPlates-“Fish”,”Codfish”, or “Hourglass” vertebra.
A
Senile/Post-Menopausal Osteoporosis
-May see at multiple contiguous levels.
16
Q
What dz has Isolated End Plate Infraction
A
Senile/Post-Menopausal Osteoporosis
- Often only depicted in a single view (oblique).
17
Q
What dz has Schmorl’s Nodes?
A
Senile/Post-Menopausal Osteoporosis
-localized intrabody discal herniations.
• Most common in thoracic and upper lumbars.
18
Q
Pseudohemangiomatous appearance of osteoporosis occurs in advanced cases of _______.
A
Senile/Post-Menopausal Osteoporosis
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.
20
Q
Proximal Femora Stress Lines=
A
#1-PRINCIPAL COMPRESSIVE GROUP #2- PRINCIPAL TENSILE GROUP #3-SECONDARY COMPRESSIVE GROUP #4W - WARD'S TRIANGLE
21
Q
Senile/Post-Menopausal Osteoporosis most common other associated fractures involve the _____.
A
distal radius (COLLES’ fracture), humeral neck, and ankle malleoli.
22
Q
Senile/Post-Menopausal Osteoporosis Insufficiency fractures:
A
sacrum(H/I/arc), pubis, medial femoral necks, tibia/fibula, calcaneus, metatarsals
23
Q
Quantify bone mineral and fracture risk assessment with _____.
A
• DXA (DEXA) (dual energy x-ray absorptiometry)
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
25
DXA Scan Printout=
* Image of anatomic part being scanned
* Graph that plots bone mineral density for that part against patient’s age
* Numeric data
26
DXA Numeric data that summarize the findings=
* 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)
27
BMD Categories – WHO Classification
```
Category Criteria / T-score
Normal= > -1
Osteopenia= -1 and -2.5
Osteoporosis= < -2.5
Severe osteoporosis= < -2.5 and fragility fracture
```
28
Normal BMD=
```
BMD or BMC within 1 standard deviation of young adult
reference mean (T-score between +1.0 and –1.0)
```
29
Low bone mass (osteopenia) BMD=
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)
30
Osteoporosis BMD=
•BMD or BMC 2.5 standard deviations between the young adult mean (T-score of –2.5 or less)
31
Severe (established) osteoporosis BMD=
• T-score of 2.5 or less and fragility fracture(s)
32
Estimation of relative risk of fracture for OP=
• 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)
33
• Relative OP fracture risk can also be compared with _____.
age-matched peers (Z-score)
34
Each standard deviation change in BMD increases fracture risk by approximately a factor of ____.
2
35
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 _____.
secondary cause of osteoporosis.
36
Laboratory Evaluation is Recommended if Z-score less than ____.
–2.0
37
Secondary causes of osteoporosis=
* 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)
38
Follow-up Scans done at Interval of _____, under most circumstances.
2 years
• Rapid bone turnover (high-dosecorticosteroids)–
6 months interval
39
REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
GENERAL CONSIDERATIONS=
A post-traumatic bone disorder characterized by an acute painful osteoporosis.
40
REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
CLINICAL FEATURES=
* >50 yrs. of age
* History of recent trauma which may have been trivial.
* Progressive pain, swelling, and atrophy distal to the trauma site.
41
REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
PATHOLOGICAL FEATURES=
Neurovascular imbalance, promoting osseous hyperemia.
42
REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
RADIOLOGICAL FEATURES
* Patchy, mottled osteoporosis.
* Metaphyseal localization.
* Later, more generalized osteoporosis.
* No joint disease.
43
REGIONAL OSTEOPOROSIS
| DISUSE AND IMMOBILIZATION OSTEOPOROSIS=
• Traumatic injuries which are immobilized, motor paralysis, and inflammatory lesions of bones and joints constitute the most common causes of regional osteoporosis.
44
DISUSE AND IMMOBILIZATION OSTEOPOROSIS Changes appear on x-ray after ___ days, becoming most extreme by _____.
7-10 days, 2-3 months
45
REGIONAL OSTEOPOROSIS
DISUSE AND IMMOBILIZATION OSTEOPOROSIS
Four radiological patterns of disuse atrophy:
* 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.
46
If function is restored to the involved body part, complete restitution to a normal appearance may be anticipated in what dz?
DISUSE AND IMMOBILIZATION OSTEOPOROSIS
47
What dz has No associated etiology, and is Sudden and reversible?
REGIONAL OSTEOPOROSIS
| TRANSIENT REGIONAL OSTEOPOROSIS
48
TRANSIENT REGIONAL OSTEOPOROSIS Affects periarticular bones.
| Two entities:
1) TRANSIENT OSTEOPOROSIS OF THE HIP
| 2) REGIONAL MIGRATORY OSTEOPOROSIS
49
TRANSIENT OSTEOPOROSIS OF THE HIP=
- 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.
50
REGIONAL MIGRATORY OSTEOPOROSIS=
- M>F
- Prefers lower extremities (foot, ankle, etc.).
- Localized, regressing, migratory osteoporosis.
51
LOCALIZED OSTEOPOROSIS=
* Inflammatory Arthritis (i.e. Rheumatoid Arthritis)
* Infection
* Neoplasm
52
OSTEOMALACIA
| GENERAL CONSIDERATIONS=
• A disorder characterized by a lack of osteoid mineralization leading to generalized bone softening.
53
OSTEOMALACIA CLINICAL FEATURES=
* Muscle weakness, bone pain, and deformities.
* Elevated parathormone, alkaline phosphatase, and urinary hydroxyproline
* Normal to decreased calcium and phosphorous.
54
OSTEOMALACIA PATHOLOGICAL FEATURES=
* Increased amounts of uncalcified osteoid tissue ("osteoid seams").
* Pseudofractures--probably insufficiency fractures healing with uncalcified osteoid.
55
Alternate Terms for Pseudofractures:
Increment fractures, Milkman's syndrome, Loosers lines, Umbau zonen
56
OSTEOMALACIA RADIOLOGICAL FEATURES=
* 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)
57
OSTEOMALACIA
| RADIOLOGICAL FEATURES continued=
* 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)
58
• Systemic skeletal disorder due to a deficiency primarily of vitamin D=
Rickets
59
• Three forms of rickets:
* 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
60
RICKETS
| CLINICAL FEATURES=
* Ages 6 months to 1 year
* Growth plate swellings
* Irritability
* Deformities
* Tetany
* Delayed maturity
* Weakness
* Elevated alkaline phosphatase levels
61
RICKETS
| PATHOLOGICAL FEATURES=
• Growth plate cartilage hypertrophies; fails to mineralize or degenerate.
62
RICKETS
| RADIOLOGICAL FEATURES=
```
• Generalized osteopenia
• Coarse trabecular changes
• Widened growth plates
• Rachitic (costal) Rosary
• Absent zone of provisional
calcification
• Frayed "paintbrush" and cupped metaphyses
```
63
SCURVY (Barlows Disease)=
* Vitamin C (ascorbic acid) deficiency.
* Capillary fragility.
* 4-10 months to develop.
* Few radiographic signs in adults, osteopenia.
64
SCURVY
| CLINICAL FEATURES=
* 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
65
SCURVY PATHOLOGICAL FEATURES=
• Depresses intercellular substance formation, especially in connective tissue, cartilage, and bone
66
SCURVY RADIOLOGICAL FEATURES=
* 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)
67
SCURVY
| RADIOLOGICAL FEATURES=
* 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)
68
HYPERPARATHYROIDISM
| GENERAL CONSIDERATIONS=
• Increased parathyroid activity liberates parathormone, which exerts a strong osteoclastic effect on the skeleton.
69
HYPERPARATHYROIDISM CLINICAL FEATURES=
* Three forms---primary (Parathyroid tumor), secondary (renal disease), and tertiary (renal dialysis)
* F>M, 3:1
* 30-50 years of age
70
HYPERPARATHYROIDISM
| CLINICAL FEATURES=
* Weakness
* Lethargy
* Polydipsia
* Polyuria
* Elevated alkaline phosphatase and parathormone levels
71
HYPERPARATHYROIDISM PATHOLOGICAL FEATURES=
* Osteoclastic and osteolytic resorption with fibrous tissue replacement (osteitis fibrosa cystica)
* Brown tumors due to hemorrhagic giant cell proliferations
* Hallmark is subperiosteal bone resorption
72
HYPERPARATHYROIDISM
| RADIOLOGICAL FEATURES=
* Bone changes consist of:
* Osteopenia
* Accentuated trabecular patterns
* Subperiosteal resorption
* Loss of cortical definition
* Brown Tumors
73
HYPERPARATHYROIDISM
| TARGET SITES: Hand=
• Hand: Subperiosteal resorption, radial margins of the proximal and middle phalanges of the 2nd and 3rd digits, w/acroosteolysis.
74
HYPERPARATHYROIDISM
| TARGET SITES: Skull=
• Skull: "Salt and pepper", resorption of lamina dura.
75
HYPERPARATHYROIDISM
| TARGET SITES: Spine=
• Spine: Osteopenia, trabecula accentuation, end plate concavities, "rugger jersey" spine, widened sacroiliac joints.
76
3 HYPERPARATHYROIDISM
| TARGET SITES:
Spine, Skull, Hand
77
HYPERPARATHYROIDISM
| RADIOLOGICAL FEATURES=
* Soft tissue changes include:
* Nephrocalcinosis • Renal calculi • Chondrocalcinosis
* Calcification in various periarticular tissues and visceral organs
78
ACROMEGALY
| GENERAL CONSIDERATIONS=
* 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.
79
ACROMEGALY
| CLINICAL FEATURES=
* Facial changes such as prominent forehead.
* Thickened tongue.
* Broadandlargehands.
* Predisposition to degenerative arthritis, especially of the spine and weightbearing joints.
* Predispositiontocarpaltunnelproblems.
80
ACROMEGALY
| PATHOLOGICAL FEATURES=
• Activation of periosteal appositional new bone, articular cartilage proliferation, and subcutaneous hyperplasia.
81
ACROMEGALY
| RADIOLOGICAL FEATURES=
* Heel pad greater than 20mm (approx. 1 inch)
* Skull: Sella turcica enlargement (d/t pituitary neoplasm), sinus overgrowth, malocclusion, widened mandibular angle (prognathism).
82
ACROMEGALY RADIOLOGICAL FEATURES=
* 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
CUSHING'S DISEASE AND STEROID-INDUCED OSTEONECROSIS
| CLINICAL FEATURES=
* 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
CUSHING'S DISEASE AND STEROID-INDUCED OSTEONECROSIS
| CLINICAL FEATURES=
* 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
Osteoporosis of Cushing’s disease:
* Cortices will be thinned, density diminished, and deformities evident.
* Biconcave end plate configurations.
86
• Cushing's disease and steroid induced Osteonecrosis:
* 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
Achondroplasia GENERAL CONSIDERATIONS=
• The most common form of dwarfism.
| Is a hereditary, autosomal dominant disturbance in epiphyseal-chondroblastic growth and maturation.
88
Achondroplasia Synonyms:
Chondrodystrophia Fetalis, Chondrodystrophic dwarfism, and Micromelia.
89
Achondroplasia Etiology=
• 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
Achondroplasia CLINICAL FEATURES of the back and abodomen=
The abdomen is protuberant, and the buttocks are prominent.
Thoracolumbar kyphosis often develops.
91
Achondroplasia CLINICAL FEATURES=
• Elbow deformities with limitation of supination and extension.
Flexion contractures of the hips, and genu varum.
“Trident Hand”
92
_______ May die at birth due to a difficult delivery, a small foramen magnum, or a constricted thorax.
Achondroplasia
93
What is Trident hand?
“Trident Hand” due to a separation of the 3rd and 4th digits and the inability to approximate them in extension. Seen in achondroplasia.
94
Rolling gait is caused by the posterior tilt of the pelvis and posterior angulation of the hip joints is associated with what dz?
Achondroplasia
95
Achondroplasia NEUROLOGICAL COMPLICATIONS in infants=
• In the infant the small foramen magnum and hydrocephalus can lead to cord compression.
96
In ____ the Most significant complication in adulthood is congenital spinal stenosis, often leading to paraplegia.
Achondroplasia
97
Four clinical syndromes caused by spinal stenosis in Achondroplasia:
* 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
Achondroplasia PATHOLOGICAL FEATURES=
• 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
Achondroplasia RADIOLOGICAL FEATURES=
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
In achondroplasia, most characteristic radiographic features are found in the _______.
skull, spine, pelvis, and limbs.
101
Basilar impression is frequent in what dz?
achondroplasia
102
In Achondroplasia, Tubular bones of hands and feet are______.
short
| and thick.
103
Symmetrical shortening of all long bones, with promimal portions being most affected=
achondroplasia
104
What happens to bone end and shafts with achondroplasia?
Bone ends are often splayed, with metaphyseal cupping.
Relative widening of the shafts.
105
With achondroplasia the pelvis is _______.
small and looks like a champagne glass (“champagne glass pelvis”)
106
In Achondroplasia, what happens to cartilage?
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
What is the most common radiographic finding with achondroplasia?
Posterior scalloping of the bodies is common (most important finding).
108
The interpedicular spaces _______ caudally in the lumbar region, whereas they ______ from L1 to L5 in the normal individual (therefore narrowing of spinal canal).
Interpedicular spaces DECREASE caudally and INCREASE from L1 to L5
109
Achondroplasia has exaggerated lumbar lordosis, complicated
| by a horizontally oriented _____.
sacrum
110
Acetabulae in Achondroplasia=
Acetabulae are horizontally oriented appearing “spatulated” or “paddle shaped” pelvis due to the tilting of the pelvis.
111
Angular kyphosis develops at the T-L junction, resulting from anteriorly wedged or “bullet-nosed” vertebra with what dz?
achondroplasia
112
T/F Pedicles are short and thick with AC.
T
113
Prominent buttock tissue on x-ray=
Achondroplasia
114
Achondroplasia Differential Diagnosis:
Mucopolysaccharidoses, trisomy, and spondyloepiphyseal dysplasia.
115
Osteogenesis Imperfecta=
• A generalized inheritable disorder of connective tissue with widespread abnormalities (thought to be autosomal dominant).
116
With OI, The most serious involvement is in the _______, but also see changes in ligaments, skin, sclera, the inner ear, and dentition.
skeleton
117
Osteogenesis Synonyms:
Osteopsathyrosisidiopathica, Mollities ossium, fragilitas ossium, and Lobstein's disease.
118
Three major clinical criteria for Osteogenesis Imperfecta diagnosis:
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
Osteogenesis Imperfecta Other nonskeletal findings:
• generalized ligamentous laxity
• episodic diaphoresis (sweating) with abnormal
temperature regulation
* easy bruising, hyperplastic scars
* premature vascular calcification.
120
What dz can have premature otosclerosis with resultant hearing loss?
osteogenesis imperfecta
121
Two forms of Osteogenesis Imperfecta=
1. ) Congenita
| 2. ) Tarda (often with normal life expectancy).
122
Osteogenesis Imperfecta Congenita
high rate of stillborns and
| infant mortality
123
Osteogenesis Imperfecta Tarda has 2 main subdivisions:
a) Type I with acquired bowing
(DDx: Rickets)
b) Type II with no bowing deformities.
124
T/F: Osteogenesis Imperfecta M=F in predominance; found in all races.
T
125
OI Severe congenita form is characterized by:
* 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
Osteogenesis Imperfecta Fractures following trivial trauma occur during ________.
childhood, after puberty and, more rarely later in adulthood
127
T/F: O.I. tarda is less severe and has a widely varied presentation.
T
128
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=
O.I.
129
What is Saturn's Ring associated with?
O.I.
Withering of normally colored sclera called “Saturn’s ring” often surrounds the cornea
130
Bluish-gray to yellowish-brown opalescent teeth (enamel is normal) with what dz?
Osteogenesis Imperfecta
131
O.I. tarda associated findings=
* 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
T/F: Estrogen therapy has shown some benefit for treating OI tarda.
T
133
Why is there muscle wasting associated with OI?
Muscle wasting because the patient is unable to move.
134
In OI tarda, is the Upper Extremity or LE affected more?
Lower extremity affected more
135
Defect in platelet aggregation results in bleeding tendencies in what condition?
OI tarda
136
Osteogenesis Imperfecta
| PATHOLOGICAL FEATURES=
* 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
• An enzyme deficiency (ATPase) maybe cause _____.
Osteogenesis Imperfecta
138
Osteogenesis Imperfecta Cardinal roentgen features=
area of diffuse decrease in bone density, pencil-thin cortices, and multiple fractures
139
Three subgroups of OI based on radiographic findings:
1) thin and gracile bones (most frequent, usually tarda patients.)
2) short, thick bones (congenita patients)
3) cystic bones (rare)
140
Osteogenesis Imperfecta Metaphyseal regions are ______.
flared and radiolucent (may go into diaphysis.)
141
Multiple fractures, often ______ and in the lower extremities, are the hallmarks of O.I.
transverse
142
What dz has subsequent healing with tumoral callus leading to shortening, bowing deformities, and pseudarthroses?
OI
143
• “Pseudotumors”=
=excessive callus formation
• Seen in OI; DDX osteosarcoma.
144
Osteogenesis Imperfecta
| RADIOLOGICAL FEATURES=
* Biconcave lens vertebra.
| * Premature degenerative joint disease and protrusio acetabuli.
145
______ is a frequent finding of OI and may
| be accompanied by basilar impression.
Platybasia
146
What dz has persistent Wormian bones, and kyphoscoliosis?
Osteogenesis Imperfecta
147
• Faulty ossification of intramembranous bone, thus skull and clavicles primarily affected in what dz?
Cleidocranial Dysplasia
148
Brachycephaly, wormian bones, small facies due to underdeveloped sinuses=
Cleidocranial Dysplasia
149
Cleidocranial Dysplasia has a lack of development of one or all three _________.
three clavicular ossification centers
150
What are the Midline defects with Cleidocranial Dysplasia:
SBO, metopic suture, wide pubic symphysis
151
What dz has an accessory ossification center in metacarpal?
Cleidocranial Dysplasia
152
Cleidocranial Dysplasia presents with a _____ head, ______ shoulders.
Large head and drooping hypermobile shoulders
153
• An uncommon autosomal dominant disorder which affects ossification of mainly intra- membranous bones and is characterized by skull and clavicular anomalies and midline defects.
Cleidocranial Dysplasia
• The condition is congenital and has an extremely varied presentation.
154
Cleidocranial Dysplasia Cases with out clavicular or cranial findings are called _______.
“mutational dysostosis”
155
Typical individual presents with a large head, Chest narrowed or cone shaped, small face, and drooping shoulders=
Cleidocranial Dysplasia
156
Does Cleidocranial Dysplasia have Normal mental status, and normal laboratory findings?
yes
157
T/F: In Cleidocranial Dysplasia, small stature is common, but dwarfism isn’t a usual feature.
T
158
• Cleidocranial Dysplasia has Gait disturbance due to ______.
deformities of the hips and femurs
159
• Abnormal dentition with severe caries and periodontitis are the most common complaints of what dz?
Cleidocranial Dysplasia
160
_________ produces extreme mobility of the shoulders allowing some patients to touch shoulders together under the chin in Cleidocranial Dysplasia.
Clavicular hypoplasia or a genesis
161
With Cleidocranial Dysplasia early in infancy there is delayed or absent ossification of the ______.
calvarium
162
With time, multiple wormian bones are for median the sutures and often the metopic (fetal) suture persists in what dz?
Cleidocranial Dysplasia
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What is hot cross bun radiographic finding?
Widening of the principal sutures (sagittal and coronal) gives a “hot cross-bun” appearance in Cleidocranial Dysplasia.
164
General Skull Xray findings with Cleidocranial Dysplasia=
* Marked brachycephaly (enlarged width).
| * Supra orbital region, temporal squama, and occipital bone are frequently thickened.
165
With CD, The foramen magnum is deformed and _______.
enlarged
166
Cleidocranial Dysplasia Nasal bones may fail to ossify and the paranasal sinuses are _______.
hypoplastic
167
Maxilla is small, mandible is large, and mandibular suture closes late in what dz?
Cleidocranial Dysplasia
168
What does Cleidocranial Dysplasia do to dentition and the palate?
* High arched or cleft palate is not uncommon.
| * Delayed and defective dentition is a prominent and often symptomatic finding.
169
Cleidocranial Dysplasia effects on THORAX=
* 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
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Cleidocranial Dysplasia effects on Pelvis=
* 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
Cleidocranial Dysplasia effects on Spine=
-Multiple spina bifida defects
•Neural arch defects and hemivertebrae
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Cleidocranial Dysplasia effects on Extremeties=
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
Complications of Cleidocranial Dysplasia
Complications
•Hearing loss, Severe dental problems, Shoulder and hip dislocations and scoliosis
174
Tall, slender with muscular hypoplasia, Dissecting aortic arch aneurysms, Scoliosis common, joint laxity & dislocations=
Marfan’s
• Long slender bones, “Arachnodactyly”
175
What dz has a possible C1-2 instability?
Marfan’s
176
What are marfan's effects on the eye?
Lens dislocation, retinal detachment, cataracts
177
What dz has normal bone density, Tall vertebrae, post. scalloping, and muscular hypoplasia?
Marfan's
178
What autosomal dominant dz
| consists of long, slender tubular bones, ocular abnormalities, and aneurysm of the aorta?
Marfan's
179
Marfan's Synonyms:
Arachnodactyly and Dolchostenomelia
180
Tall, slender and hypo-muscularpersons, Trunk appears short due to severe hyperkyphosis=
Marfan's
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T/F: Marfan's has no sexual or racial predominance.
T
182
Describe Marfan's Extremities=
•Extremities are markedly elongated, with very sparse soft tissue.
183
Where is elongation most pronounced in Marfan's?
| get your mind out of the gutter
• Elongation of the tubular bones (trunkis spared) is most marked in the distal portion of the extremities, especially the phalanges, metacarpals, and metatarsals.
184
What extremity grows more in Marfan's?
• Lower extremity exhibits greater overgrowth than the upper.
185
What is the consequence of Marfan's joint laxity?
• 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
What dz has associated findings: hip dislocations, genu recurvatum, patellar dislocations, and pes planus?
Marfan's
187
T/F Marfan's affected individuals are >6feet.
T, generally
• Normal mental capacity.
188
Marfan's Scoliosis in approximately ____% of patients.
45%
189
Classically, the skull reveals dolichocephaly
| (having a disproportionately long head)=
Marfan's
190
What's a Marfan's face?
* Face is elongated, with a high, arched palate and prominent jaw.
* Poor dentition is frequent, often with 2 rows of misplaced, long teeth.
191
What happens to Marfan eyes?
* 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
Inapprox. 1/3 of affected individuals see some form of congenital heart dis. & cardiac abnormalities which contributes to shortened life span=
Marfan's
193
Marfan's most frequent congenital heart lesion=
• Atrial septal defect is the most frequent congenital heart lesion.
194
T/F: Pathologically, Marfan’s is a connective tissue disorder, with a failure to produce normal collagen (aortic bulb is enlarged).
T
195
What is the floppy valve associated with Marfan's?
“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
Marfan's labs=
• Etiology unknown with no consistently abnormal lab findings.
