Exam 1 Flashcards
What is Dysostosis?
Developmental anomaly of bone or cartilage
How does dysostosis occur?
Abnormal mesenchymal migration
Abnormal ossification of fetal cartilage
What is aplasia?
Absence of normal tissue or growth
What are two things associated with dysostosis?
Supernumerary digit Cleidocranial dysplasia (no presence of clavicles)
When it comes to dysostosis, what are some examples of supernumerary digits?
Things like Syndactyly or polydactyly
This condition can happen in patients with dysostosis where there is congenital fusion of at least 2 or more cervical vertebrae
Klippel-Feil Syndrome
Occurs 1 in 2,000
This condition in people with dysostosis is when the scapula attaches directly to the lower cervical or upper thoracic vertebrae
Sprengel’s Deformity
Can also result in renal, cardiac, and hearting malformations
What is dysplasia?
Mutations that interfere with growth of entire skeleton
(In this context, NOT pre-cancerous)
What are some examples of dysplasia?
Osteodysplasia - type 1 spondylolisthesis (“dysplastic type”)
Achondroplasia (M.C.)
Osteopetrosis
What is osteopetrosis
Skeleton is overly dense, but still shatters easily
What is another name for osteogenesis imperfecta
Brittle bone disease
Osteogenesis imperfecta is mainly caused by a…..
Mutated type 1 collagen defect
Alpha 1 or alpha 2 chains
How is osteogenesis imperfecta acquired? (Dominant/recessive)
Autosomal dominant
What body parts are affected in osteogenesis imperfecta?
Bones, eyes, teeth, inner ear bones, skin, joints
What are the two types of osteogenesis imperfecta and their outcomes?
Type 1 - normal lifespan
Type 2 - lethal in utero
What is the consensus with chiropractic and osteogenesis imperfecta?
Adjusting is contraindicated
Don’t do it
How do people with osteogenesis imperfecta obtain Zebra Stripe Sign?
The children are being treated with bisphosphonates (cyclical)
Trying to lay down more bone
When adults are at or below the height of 4’10” (147 cm), what is the name of that condition
Dwarfism
What is the MC form of dwarfism
Achondroplasia
What are the effects of Achondroplasia
Lower cartilage synthesis
Short/bowed long bones
Frontal bossing & midface hypoplasia
What is the specific gene that causes Achondroplasia
Mutated FGFR3 gene
75% spontaneous
25% are autosomal dominant
1 in 10,0000
What is claudication?
Cramping
What are some conditions that can happen to the spine in patients with Achondroplasia
Bullet Vertebrae
Spinal Stenosis
What are some characteristics of bullet vertebrae
Hyperlordosis & kyphosis (at birth)
Scoliosis
What are some characteristics of Spinal Stenosis
Foramen Magnum - brain stem compression, may be lethal
Spinal Canal - radiculopathy (pinched nerve)
What is the condition in patients with achondroplasia where their hands are very large and the bones are very far spread out.
Trident Hand
What are some treatments available for patients who have achondroplasia?
Growth Hormone (somatotropin) - initiated between ages 1-6
Limb-lengthening surgery
-controversial, experimental, takes years, may add about 1 foot to height.
What is the worst case scenario for dwarfism
Thanatophoric dwarfism
What are some characteristics of thanatophoric dwarfism
Extremely small thorax and short long bones Rare Fatal -stillbirth -Perinatal respiratory failure
What are other conditions that can cause dwarfism?
Turner syndrome, Hypothyroidism, malnutrition, osteogenesis imperfecta, hypopituitary dwarfism, etc…
What are other names for osteopetrosis?
Marble bone disease
Albers-Schonberg disease
In osteopetrosis, what is the activity of osteoclasts?
Lower osteoclast activity
In osteopetrosis, there is skeletal sclerosis. What does this mean?
Skeletal hardening
With osteopetrosis, what is the condition in which bone marrow is being compressed and dies? What does this lead to?
Condition is deranged hematopoiesis
Leads to fatigue and infections due to lack of RBC/WBC
What is foraminal stenosis that can happen in patients with osteopetrosis?
Cranial nerve palsies
What is a treatment for osteopetrosis?
Lower calcium intake or a serious procedure of stem cell donations
Osteopetrosis with no medulla can develop Erlenmeyer flask deformity, what is another condition that can cause this?
Gaucher disease
With osteoporosis, what is the main structure being stressed?
Trabecular bone (cancellous, spongy)
What are some examples of bones that are affected in patients with osteoporosis
Vertebral bodies, femoral neck, calcaneus
May thin cortex, when advanced
What is the condition when osteoporosis has not fully settled in? Not within that 2.5 SD away from normal
Osteopenia
What is osteopenia?
Lower bone mass and more porosity
Asymptomatic, until skeletal fragility
How does one diagnose osteoporisis/osteopenia
T-score that is 2.5 SD away from normal is osteoporisis, anything less than that is osteopenia
What are the two types of osteoporisis?
Primary and Secondary
What are the characteristics of primary osteoporosis
Senile (age-related)
Postmenopausal
What are characteristics of Secondary osteoporisis
Neoplasia, body-wide immobilization
Hyperparathyroidism, nutrient deficiencies
Corticosteroids, alcohol, smoking
What are some more characteristics of senile in primary osteoporisis
Age-related, normal phenomenon
Lower growth factors and lower osteoblast activity
Begins as soon as mid-20s
-0.5% bone mass is lost each year
What are some characteristics of postmenopausal conditions in primary osteoporosis
Lower estrogens = increased osteoclast activity
50% of PM females (3% of age-matched males)
What are some treatments for osteoporosis in menopausal women and what are some side effects from this?
Estrogen therapy
Some side effects are increased DVT, endometrial CA and breast CA
What are some risk factors for osteoporosis
Older age Females Sedentary lifestyle Family history Disordered eating, malnutrition, malabsorption
Osteoporosis can lead to two different kinds of consequences, what are these two?
Vertebral body compression fracture
Femoral neck fracture
With vertebral body compression fracture, what are two conditions and their names for them
Dowager’s Hump
kyphoscoliosis
(Reduced height, risk for pneumonia)
What are some conditions with femoral neck fractures?
Disabling and risk for pulmonary emboli
Are x-rays diagnostic or non-diagnostic for patients with osteoporosis
Non-diagnostic
(Not sensitive enough)
Loss of ~30-40% of bone mass
What are three preventions for osteoporosis
- ) Physical activity - regular exercise
- best prior to age 30 - ) Dietary calcium & vitamin D
- ) Antiresorptive pharmacological agents
- bisphosphonates
When people talk about Paget Disease, what is the general term
Paget Disease is of Bone
What is another name for Paget disease of bone?
Osteitis deformans
What are the three stages of Paget disease
- Regional osteoclastic activity
- Osteoblastic activity = excessive bone
- disorganized, greater mass, poor quality
- Sclerotic phase
What is the appearance in x-rays for patients with Paget disease
Weak bone, “shaggy” appearance
What is a Dx for Paget disease
Increased alkaline phosphatase in serum
What kind of bone pattern can you see in patients with Paget disease
A mosaic appearance (jigsaw puzzle)
Instead of a round circular pattern
Is there a known cause for Paget disease
No, idiopathic
Maybe genetic, geographic, infective (paramyxoviridae)
Is Paget disease common? If so what are some characteristics? Numbers?
Yes very common
~2% in more than 50 year olds
~10% in more than 80 year olds
Do patients normally have symptoms for Paget disease?
No, generally asymptomatic (80%)
- incidental findings
If it is symptomatic, MC neck and back pain
-bony deformation (bowing) or fracture
-nerve compression: headache, visual/auditory
What percentage of Paget disease can be a sarcoma?
1% and very poor prognosis
On X-ray for patients with Paget Disease, what is the name given to the object being seen for bones?
Ivory Vertebra Sign
Paget disease
Metastatic cancer (prostate)
Lymphoma
What is the percentage of Paget disease being in multiple sites and where are some areas?
Most 85% have multiple sites
MC is the axial skeleton/femur
Others are pelvis, sacrum, skull
What is the MC Dx at age 70 for patients with Paget disease
Males are 2X more likely
Europe, New Zealand, Australia
What is a treatment for patients with Paget’s diease
Bisphosphonates
-intended to slow lytic phase
With people who have vitamin D deficiency, what is the general malformation?
Failed osseoid formation
-undermineralized bone
What are some things that cause failed osteoid formation
Deficiency - dietary or UV
Malabsorption
Chronic renal disorders
What is the condition called in kids with vitamin D deficiency and some effects from it
Rickets = children, severe
-poor growth plate mineralization
What is the condition called in adults with vitamin D deficiency and some effects of it
Osteomalacia = adults, mild
Remodeled bone is undermineralized
Mimics osteoporosis
What does the parathyroid gland do?
Secretes parathyroid hormone & maintain serum Ca ++
What are two conditions of hyperparathyroidism called?
Primary and secondary hyperparathyroidism
How does parathyroid hormone and calcium correlate to one another?
Directly proportional to each other
PTH goes up, Ca goes up
What are some characteristics for primary hyperparathyroidism
Autonomous PTH production
-MC from an adenoma
Increased osteoclast activity
Increased renal tubule resorption of Ca++
What are some characteristics of secondary hyperparathyroidism
Renal failure > hypocalcemia > increased PTH
Is hyperparathyroidism symptomatic or asymptomatic
Most are asymptomatic
Who is mainly affected by hyperparathyroidism
MC affects post-menopausal females
What happens to patients with hyperparathyroidism
Resorption of cortical & trabecular bone
-replaced by loose connective tissue
-possible “brown tumor”
Brown tumor - fracture -> hemorrhage -> macrophages -> fibrosis
-not a true neoplasm/tumor
What are some diseases or problems that can happen to patients with hyperparathyroidism
Kidney stones (MC), peptic ulcers, depression, demineralization/pathologic fractures -variety of unique skeletal changes
On X-ray a salt and pepper skull would indicate what? What would help with diagnosis?
MC nonmalignant cause of hypercalcemia
Dx = hypercalcemia + parathyroid immunoassay
What is a condition seen on x-ray where the middle of the vertebrae are thinner and show up less?
Rugged-jersey Spine related to hyperparathyroidism
What is shown on x-ray with resorption of one side of fingers and another with one side of radial,middle phalanges due to hyperparathyroidism?
First one is spiculated Cortex
Second one is subperiosteal Resorption
What are some widespread features of hyperparathyroidism
Bone pain, fractures, deformation, kidney stones, nausea, anorexia, fatigue, lower cognition
What is the treatment for parathyroidism
Depends on cause (primary or secondary)
Drinking water and physical activity
Avoid diuretics
Reversible with normalization of PTH levels
What is the mnemonic for hyperparathyroidism
Painful bones, renal stones, abdominal groans, & psychic moans
What is a classic feature of advanced hyperparathyroidism that takes on a cystic appearance on x-ray?
Osteitis Fibrosa Cystica
What are some classifications of fractures?
Complete vs incomplete (children) Closed Compound Comminuted Displaced
What is a closed fracture?
Intact overlying tissue
What is a compound fracture
Skin is ruptured
-infection risk
What is a comminuted fracture?
Fragmented/splintered
What is a displaced fracture
Distal segment is malaligned
