Osteoporosis Three types:
Generalized, regional, localized.
Osteoporosis Generalized:
Generalized: Age related, post- menopausal, steroid induced, heparin induced, multiple myeloma, metastasis, hyperparathyroidism, scurvy, osteomalcia, rickets, sickle cell anemia, osteogenesis imperfecta, etc.
Osteoporosis Regional:
Regional:disuse/immobilization,RSD
OP localized:
Localized: infection, inflammatory arthritis, neoplasm
Definition of Osteoporosis
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.
Senile/Post-Menopausal Osteoporosis
GENERAL CONSIDERATIONS=
Increasing age results in generalized osteoporosis of the entire skeleton.
Senile/Post-Menopausal Osteoporosis CLINICAL FEATURES=
• 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.
Osteoporotic-related Fractures Stats=
1.3+ million fractures annually
• ~ 500,000 – 750,000 spine
• ~ 250,000 hip
• ~ 240,000 wrist
Up to ___ per cent of elderly people with hip fracture die within 6 months of injury
30%
Senile/Post-Menopausal Osteoporosis
PATHOLOGICAL FEATURES=
- 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.
Senile/Post-Menopausal Osteoporosis
RADIOLOGICAL FEATURES=
• Increased bony radiolucency, cortical thinning, and altered trabecular patterns are the major signs.
Spine changes include accentuated vertical trabeculae “pseudo- hemangiomatous” appearance, “pencil” thin cortices and endplates, and general radiolucency.
Senile/Post-Menopausal Osteoporosis
What dz has Plana -“Pancake” vertebra=
Senile/Post-Menopausal Osteoporosis
-Need to differentiate from serious etiology especially metastatic carcinoma & multiple myeloma.
What dz has Wedged -Trapezoidal shape vertebra=
Senile/Post-Menopausal Osteoporosis
-Also present in traumatic compression fractures of spine.
What dz has BiconcaveEndPlates-“Fish”,”Codfish”, or “Hourglass” vertebra.
Senile/Post-Menopausal Osteoporosis
-May see at multiple contiguous levels.
What dz has Isolated End Plate Infraction
Senile/Post-Menopausal Osteoporosis
- Often only depicted in a single view (oblique).
What dz has Schmorl’s Nodes?
Senile/Post-Menopausal Osteoporosis
-localized intrabody discal herniations.
• Most common in thoracic and upper lumbars.
Pseudohemangiomatous appearance of osteoporosis occurs in advanced cases of _______.
Senile/Post-Menopausal Osteoporosis
Senile/Post-Menopausal Osteoporosis
• PELVIS AND FEMORA=
- 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.
Proximal Femora Stress Lines=
#1-PRINCIPAL COMPRESSIVE GROUP #2- PRINCIPAL TENSILE GROUP #3-SECONDARY COMPRESSIVE GROUP #4W - WARD'S TRIANGLE
Senile/Post-Menopausal Osteoporosis most common other associated fractures involve the _____.
distal radius (COLLES’ fracture), humeral neck, and ankle malleoli.
Senile/Post-Menopausal Osteoporosis Insufficiency fractures:
sacrum(H/I/arc), pubis, medial femoral necks, tibia/fibula, calcaneus, metatarsals
Quantify bone mineral and fracture risk assessment with _____.
• DXA (DEXA) (dual energy x-ray absorptiometry)
Dual Energy X-ray Absorptiometry
Advantages=
- Considered gold standard
- Hip/spine/wrist measurements • Low radiation exposure
- Moderate to low cost per test • May perform serial tests
DXA Scan Printout=
- Image of anatomic part being scanned
- Graph that plots bone mineral density for that part against patient’s age
- Numeric data
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)
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
Normal BMD=
BMD or BMC within 1 standard deviation of young adult reference mean (T-score between +1.0 and –1.0)
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)
Osteoporosis BMD=
•BMD or BMC 2.5 standard deviations between the young adult mean (T-score of –2.5 or less)
Severe (established) osteoporosis BMD=
• T-score of 2.5 or less and fragility fracture(s)
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)
• Relative OP fracture risk can also be compared with _____.
age-matched peers (Z-score)
Each standard deviation change in BMD increases fracture risk by approximately a factor of ____.
2
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.
Laboratory Evaluation is Recommended if Z-score less than ____.
–2.0
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)
Follow-up Scans done at Interval of _____, under most circumstances.
2 years
• Rapid bone turnover (high-dosecorticosteroids)–
6 months interval
REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
GENERAL CONSIDERATIONS=
A post-traumatic bone disorder characterized by an acute painful osteoporosis.
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.
REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
PATHOLOGICAL FEATURES=
Neurovascular imbalance, promoting osseous hyperemia.
REGIONAL OSTEOPOROSIS
REFLEX SYMPATHETIC DYSTROPHY SYNDROME
RADIOLOGICAL FEATURES
- Patchy, mottled osteoporosis.
- Metaphyseal localization.
- Later, more generalized osteoporosis.
- No joint disease.
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.
DISUSE AND IMMOBILIZATION OSTEOPOROSIS Changes appear on x-ray after ___ days, becoming most extreme by _____.
7-10 days, 2-3 months
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.
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
What dz has No associated etiology, and is Sudden and reversible?
REGIONAL OSTEOPOROSIS
TRANSIENT REGIONAL OSTEOPOROSIS
TRANSIENT REGIONAL OSTEOPOROSIS Affects periarticular bones.
Two entities:
1) TRANSIENT OSTEOPOROSIS OF THE HIP
2) REGIONAL MIGRATORY OSTEOPOROSIS
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.
REGIONAL MIGRATORY OSTEOPOROSIS=
- M>F
- Prefers lower extremities (foot, ankle, etc.).
- Localized, regressing, migratory osteoporosis.
LOCALIZED OSTEOPOROSIS=
- Inflammatory Arthritis (i.e. Rheumatoid Arthritis)
- Infection
- Neoplasm
OSTEOMALACIA
GENERAL CONSIDERATIONS=
• A disorder characterized by a lack of osteoid mineralization leading to generalized bone softening.
OSTEOMALACIA CLINICAL FEATURES=
- Muscle weakness, bone pain, and deformities.
- Elevated parathormone, alkaline phosphatase, and urinary hydroxyproline
- Normal to decreased calcium and phosphorous.
OSTEOMALACIA PATHOLOGICAL FEATURES=
- Increased amounts of uncalcified osteoid tissue (“osteoid seams”).
- Pseudofractures–probably insufficiency fractures healing with uncalcified osteoid.
Alternate Terms for Pseudofractures:
Increment fractures, Milkman’s syndrome, Loosers lines, Umbau zonen
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)
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)
• Systemic skeletal disorder due to a deficiency primarily of vitamin D=
Rickets
• 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
RICKETS
CLINICAL FEATURES=
- Ages 6 months to 1 year
- Growth plate swellings
- Irritability
- Deformities
- Tetany
- Delayed maturity
- Weakness
- Elevated alkaline phosphatase levels
RICKETS
PATHOLOGICAL FEATURES=
• Growth plate cartilage hypertrophies; fails to mineralize or degenerate.
RICKETS
RADIOLOGICAL FEATURES=
• Generalized osteopenia • Coarse trabecular changes • Widened growth plates • Rachitic (costal) Rosary • Absent zone of provisional calcification • Frayed "paintbrush" and cupped metaphyses
SCURVY (Barlows Disease)=
- Vitamin C (ascorbic acid) deficiency.
- Capillary fragility.
- 4-10 months to develop.
- Few radiographic signs in adults, osteopenia.
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
SCURVY PATHOLOGICAL FEATURES=
• Depresses intercellular substance formation, especially in connective tissue, cartilage, and bone
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)
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)
HYPERPARATHYROIDISM
GENERAL CONSIDERATIONS=
• Increased parathyroid activity liberates parathormone, which exerts a strong osteoclastic effect on the skeleton.
HYPERPARATHYROIDISM CLINICAL FEATURES=
- Three forms—primary (Parathyroid tumor), secondary (renal disease), and tertiary (renal dialysis)
- F>M, 3:1
- 30-50 years of age
HYPERPARATHYROIDISM
CLINICAL FEATURES=
- Weakness
- Lethargy
- Polydipsia
- Polyuria
- Elevated alkaline phosphatase and parathormone levels
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
HYPERPARATHYROIDISM
RADIOLOGICAL FEATURES=
- Bone changes consist of:
- Osteopenia
- Accentuated trabecular patterns
- Subperiosteal resorption
- Loss of cortical definition
- Brown Tumors
HYPERPARATHYROIDISM
TARGET SITES: Hand=
• Hand: Subperiosteal resorption, radial margins of the proximal and middle phalanges of the 2nd and 3rd digits, w/acroosteolysis.
HYPERPARATHYROIDISM
TARGET SITES: Skull=
• Skull: “Salt and pepper”, resorption of lamina dura.
HYPERPARATHYROIDISM
TARGET SITES: Spine=
• Spine: Osteopenia, trabecula accentuation, end plate concavities, “rugger jersey” spine, widened sacroiliac joints.
3 HYPERPARATHYROIDISM
TARGET SITES:
Spine, Skull, Hand
HYPERPARATHYROIDISM
RADIOLOGICAL FEATURES=
- Soft tissue changes include:
- Nephrocalcinosis • Renal calculi • Chondrocalcinosis
- Calcification in various periarticular tissues and visceral organs
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.
ACROMEGALY
CLINICAL FEATURES=
- Facial changes such as prominent forehead.
- Thickened tongue.
- Broadandlargehands.
- Predisposition to degenerative arthritis, especially of the spine and weightbearing joints.
- Predispositiontocarpaltunnelproblems.
ACROMEGALY
PATHOLOGICAL FEATURES=
• Activation of periosteal appositional new bone, articular cartilage proliferation, and subcutaneous hyperplasia.
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).
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.
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“).
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.
Osteoporosis of Cushing’s disease:
- Cortices will be thinned, density diminished, and deformities evident.
- Biconcave end plate configurations.
• 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”
Achondroplasia GENERAL CONSIDERATIONS=
• The most common form of dwarfism.
Is a hereditary, autosomal dominant disturbance in epiphyseal-chondroblastic growth and maturation.
Achondroplasia Synonyms:
Chondrodystrophia Fetalis, Chondrodystrophic dwarfism, and Micromelia.
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.
Achondroplasia CLINICAL FEATURES of the back and abodomen=
The abdomen is protuberant, and the buttocks are prominent.
Thoracolumbar kyphosis often develops.
Achondroplasia CLINICAL FEATURES=
• Elbow deformities with limitation of supination and extension.
Flexion contractures of the hips, and genu varum.
“Trident Hand”
_______ May die at birth due to a difficult delivery, a small foramen magnum, or a constricted thorax.
Achondroplasia
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.
Rolling gait is caused by the posterior tilt of the pelvis and posterior angulation of the hip joints is associated with what dz?
Achondroplasia
Achondroplasia NEUROLOGICAL COMPLICATIONS in infants=
• In the infant the small foramen magnum and hydrocephalus can lead to cord compression.
In ____ the Most significant complication in adulthood is congenital spinal stenosis, often leading to paraplegia.
Achondroplasia
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.
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.
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.
In achondroplasia, most characteristic radiographic features are found in the _______.
skull, spine, pelvis, and limbs.
Basilar impression is frequent in what dz?
achondroplasia
In Achondroplasia, Tubular bones of hands and feet are______.
short
and thick.
Symmetrical shortening of all long bones, with promimal portions being most affected=
achondroplasia
What happens to bone end and shafts with achondroplasia?
Bone ends are often splayed, with metaphyseal cupping.
Relative widening of the shafts.
With achondroplasia the pelvis is _______.
small and looks like a champagne glass (“champagne glass pelvis”)
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.
What is the most common radiographic finding with achondroplasia?
Posterior scalloping of the bodies is common (most important finding).
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
Achondroplasia has exaggerated lumbar lordosis, complicated
by a horizontally oriented _____.
sacrum
Acetabulae in Achondroplasia=
Acetabulae are horizontally oriented appearing “spatulated” or “paddle shaped” pelvis due to the tilting of the pelvis.
Angular kyphosis develops at the T-L junction, resulting from anteriorly wedged or “bullet-nosed” vertebra with what dz?
achondroplasia
T/F Pedicles are short and thick with AC.
T
Prominent buttock tissue on x-ray=
Achondroplasia
Achondroplasia Differential Diagnosis:
Mucopolysaccharidoses, trisomy, and spondyloepiphyseal dysplasia.
Osteogenesis Imperfecta=
• A generalized inheritable disorder of connective tissue with widespread abnormalities (thought to be autosomal dominant).
With OI, The most serious involvement is in the _______, but also see changes in ligaments, skin, sclera, the inner ear, and dentition.
skeleton
Osteogenesis Synonyms:
Osteopsathyrosisidiopathica, Mollities ossium, fragilitas ossium, and Lobstein’s disease.
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.
Osteogenesis Imperfecta Other nonskeletal findings:
• generalized ligamentous laxity
• episodic diaphoresis (sweating) with abnormal
temperature regulation
- easy bruising, hyperplastic scars
- premature vascular calcification.
What dz can have premature otosclerosis with resultant hearing loss?
osteogenesis imperfecta
Two forms of Osteogenesis Imperfecta=
- ) Congenita
2. ) Tarda (often with normal life expectancy).
Osteogenesis Imperfecta Congenita
high rate of stillborns and
infant mortality
Osteogenesis Imperfecta Tarda has 2 main subdivisions:
a) Type I with acquired bowing
(DDx: Rickets)
b) Type II with no bowing deformities.
T/F: Osteogenesis Imperfecta M=F in predominance; found in all races.
T
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
Osteogenesis Imperfecta Fractures following trivial trauma occur during ________.
childhood, after puberty and, more rarely later in adulthood
T/F: O.I. tarda is less severe and has a widely varied presentation.
T
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.
What is Saturn’s Ring associated with?
O.I.
Withering of normally colored sclera called “Saturn’s ring” often surrounds the cornea
Bluish-gray to yellowish-brown opalescent teeth (enamel is normal) with what dz?
Osteogenesis Imperfecta
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.
T/F: Estrogen therapy has shown some benefit for treating OI tarda.
T
Why is there muscle wasting associated with OI?
Muscle wasting because the patient is unable to move.
In OI tarda, is the Upper Extremity or LE affected more?
Lower extremity affected more
Defect in platelet aggregation results in bleeding tendencies in what condition?
OI tarda
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.
• An enzyme deficiency (ATPase) maybe cause _____.
Osteogenesis Imperfecta
Osteogenesis Imperfecta Cardinal roentgen features=
area of diffuse decrease in bone density, pencil-thin cortices, and multiple fractures
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)
Osteogenesis Imperfecta Metaphyseal regions are ______.
flared and radiolucent (may go into diaphysis.)
Multiple fractures, often ______ and in the lower extremities, are the hallmarks of O.I.
transverse
What dz has subsequent healing with tumoral callus leading to shortening, bowing deformities, and pseudarthroses?
OI
• “Pseudotumors”=
=excessive callus formation
• Seen in OI; DDX osteosarcoma.
Osteogenesis Imperfecta
RADIOLOGICAL FEATURES=
- Biconcave lens vertebra.
* Premature degenerative joint disease and protrusio acetabuli.
______ is a frequent finding of OI and may
be accompanied by basilar impression.
Platybasia
What dz has persistent Wormian bones, and kyphoscoliosis?
Osteogenesis Imperfecta
• Faulty ossification of intramembranous bone, thus skull and clavicles primarily affected in what dz?
Cleidocranial Dysplasia
Brachycephaly, wormian bones, small facies due to underdeveloped sinuses=
Cleidocranial Dysplasia
Cleidocranial Dysplasia has a lack of development of one or all three _________.
three clavicular ossification centers
What are the Midline defects with Cleidocranial Dysplasia:
SBO, metopic suture, wide pubic symphysis
What dz has an accessory ossification center in metacarpal?
Cleidocranial Dysplasia
Cleidocranial Dysplasia presents with a _____ head, ______ shoulders.
Large head and drooping hypermobile shoulders
• 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.
Cleidocranial Dysplasia Cases with out clavicular or cranial findings are called _______.
“mutational dysostosis”
Typical individual presents with a large head, Chest narrowed or cone shaped, small face, and drooping shoulders=
Cleidocranial Dysplasia
Does Cleidocranial Dysplasia have Normal mental status, and normal laboratory findings?
yes
T/F: In Cleidocranial Dysplasia, small stature is common, but dwarfism isn’t a usual feature.
T
• Cleidocranial Dysplasia has Gait disturbance due to ______.
deformities of the hips and femurs
• Abnormal dentition with severe caries and periodontitis are the most common complaints of what dz?
Cleidocranial Dysplasia
_________ produces extreme mobility of the shoulders allowing some patients to touch shoulders together under the chin in Cleidocranial Dysplasia.
Clavicular hypoplasia or a genesis
With Cleidocranial Dysplasia early in infancy there is delayed or absent ossification of the ______.
calvarium
With time, multiple wormian bones are for median the sutures and often the metopic (fetal) suture persists in what dz?
Cleidocranial Dysplasia
What is hot cross bun radiographic finding?
Widening of the principal sutures (sagittal and coronal) gives a “hot cross-bun” appearance in Cleidocranial Dysplasia.
General Skull Xray findings with Cleidocranial Dysplasia=
- Marked brachycephaly (enlarged width).
* Supra orbital region, temporal squama, and occipital bone are frequently thickened.
With CD, The foramen magnum is deformed and _______.
enlarged
Cleidocranial Dysplasia Nasal bones may fail to ossify and the paranasal sinuses are _______.
hypoplastic
Maxilla is small, mandible is large, and mandibular suture closes late in what dz?
Cleidocranial Dysplasia
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.
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
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
Cleidocranial Dysplasia effects on Spine=
-Multiple spina bifida defects
•Neural arch defects and hemivertebrae
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
Complications of Cleidocranial Dysplasia
Complications
•Hearing loss, Severe dental problems, Shoulder and hip dislocations and scoliosis
Tall, slender with muscular hypoplasia, Dissecting aortic arch aneurysms, Scoliosis common, joint laxity & dislocations=
Marfan’s
• Long slender bones, “Arachnodactyly”
What dz has a possible C1-2 instability?
Marfan’s
What are marfan’s effects on the eye?
Lens dislocation, retinal detachment, cataracts
What dz has normal bone density, Tall vertebrae, post. scalloping, and muscular hypoplasia?
Marfan’s
What autosomal dominant dz
consists of long, slender tubular bones, ocular abnormalities, and aneurysm of the aorta?
Marfan’s
Marfan’s Synonyms:
Arachnodactyly and Dolchostenomelia
Tall, slender and hypo-muscularpersons, Trunk appears short due to severe hyperkyphosis=
Marfan’s
T/F: Marfan’s has no sexual or racial predominance.
T
Describe Marfan’s Extremities=
•Extremities are markedly elongated, with very sparse soft tissue.
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.
What extremity grows more in Marfan’s?
• Lower extremity exhibits greater overgrowth than the upper.
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).
What dz has associated findings: hip dislocations, genu recurvatum, patellar dislocations, and pes planus?
Marfan’s
T/F Marfan’s affected individuals are >6feet.
T, generally
• Normal mental capacity.
Marfan’s Scoliosis in approximately ____% of patients.
45%
Classically, the skull reveals dolichocephaly
(having a disproportionately long head)=
Marfan’s
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.
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.
Inapprox. 1/3 of affected individuals see some form of congenital heart dis. & cardiac abnormalities which contributes to shortened life span=
Marfan’s
Marfan’s most frequent congenital heart lesion=
• Atrial septal defect is the most frequent congenital heart lesion.
T/F: Pathologically, Marfan’s is a connective tissue disorder, with a failure to produce normal collagen (aortic bulb is enlarged).
T
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)
Marfan’s labs=
• Etiology unknown with no consistently abnormal lab findings.
