Exam 1 Flashcards
What is Dysostosis?
Developmental anomaly of bone
What are homeobox genes?
Groups of genes, encode for structural development during embryogenesis
What is dysplasia
Mutations interfere with growth or homeostasis (dwarfism)
What is syndactyly
The fusion of digits from malformation
What is osteogenesis
Bone disorder with mutations to type 1 collagen
Osteogenesis imperfecta what does it do?
Premature bone breakdown, Alpha 1,2 chains are messed up. Autosomal dominant
Bones, eyes, teeth, inner ear bones, skin joints
Which type of osteogenesis imperfecta kills in utero
Type 2
Type 1- normal lifespan
Symptoms of osteogenesis imperfecta
Extremity bowing, scoliosis, dislocations, ligamentous laxity, hearing loss, short stature,
BLUE SCLERA
What disease is associated with Zebra Stripe Sign
Osteogenesis imperfecta
Children with it have be treated with supplements which give the appearance of zebra stripes in the bones
What are the 3 most common forms of dwarfism?
Achondroplasia
Osteogenesis imperfecta
Turner Syndrome
What disease is associated with FGFR3
Achondroplasia
Mutated Fibroblast Growth Factor Receptor
75% are spontaneous
Rest are inherited, autosomal dominant
Symptoms of achondroplasia
Frontal bossing of the skull
Bullet shaped vertebral bodies
Brain stem compression from small foramen magnum
Spinal canal raduclopathy in lumbars
Trident hand
What is thanatophoric dwarfism
Extremely small thorax, and short long bones
Rare
Fatal results in still births
Osteopetrosis is known as
Marble bone disease
What is osteopetrosis
Osteoclasts- are downregulated
Results in stone like bone increase in fractures
Recurrent infections
What is the treatment of osteopetrosis
Decrease calcium intake
Stem cell replacement
What is osteoporosis
Impacts trabecular bone
Can thin the cortex in advanced cases
Osteoporosis is a severe form of???
Osteopenia
Decrease in bone mass and increase in porosity
T-score must be 2.5 SD away from normal
What is pager disease
Excessive bone formation
Greater bone mass but its weak
Sclerotic (burnout) phase
Leaves a “shaggy” appearance
How to diagnose pages disease?
Increase in alkaline phosphates in serum which is a by product of osteoblast activity
Can have a mosaic pattern aka “jigsaw puzzle” look
What causes pagets?
Its idiopathic, some PARAMYXOVIRIDAE antigens
80% of cases are asymptomatic
Where is pagets disease most common symptom?
Neck and back pain
What is the ivory vertebra sign
Indication of
- Paget disease
- Metastatic cancer (prostate)
- Lymphoma
Where is mc site of paget disease
Axial skeleton/femur 80%
Most commonly diagnosed at 70yrs old
Males 2x more likely
What is treatment of paget disease
Biphosphates
Which are intended to slow lyric phase
What is a result of vitamin D deficiency
Undermineralized bony matrix
What are the two most common forms of vitamin D deficiency
Rickets- found in children, severe form
Osteomalacia- found in adults, normally mild form, can mimic osteoporosis
Get 90% of vitamin D from sun
What is primary hyperparathryoidism
MC from an adenoma
Increase in osteoblast activity
Renal tube of resorption of Ca
What is secondary hyperparathryoidism
Results in renal failure, hypocalcemia, and increase in PTH
What is the most common nonmalignant cause of hypercalcemia
Secondary hyperparathryoidism
Hyperparathryoidism mc affects ______________
Women, 50% are asymptomatic
What can cause a “brown tumor”
Hyperparathryoidism , bone is replaced by loose connective tissue
Symptoms of hyperparathryoidism
Kidney stone MC, peptic ulcers, depression, long bone bowing,brain fog, short term memory loss
What is the treatment of hyperparathryoidism
Drinking water and physic activity
Avoidance of diuretics
Is reversible with normalization of PTH levels
Osteitis fibrosis cystica is a symptom of advanced stages of ___________________
Hyperparathryoidism , skeleton takes on a cystic appearance
What is a closed fracture
Intact overlying tissue
Compound fracture
Skin is ruptured, INFECTION risk
Comminuted fracture
Fragmented/splintered break
Displaced fracture
Distal segment is malaligned
What is a pathological fracture
Is at the site of any disease
Ex. Osteogenesis imperfecta , osteoporosis, tumor
What’s a stress fracture
Microfractures, develop slowly over time from repetitive use
What is woven bone?
Fracture healing using chondroblasts 2-3 weeks after break
What is endochondral ossification
Have a bony callus 6-8 weeks after break, continual remodeling
What delays healing of fractures
Nonunion- due to large callus Communition- resort fragments Inadequate immobilization- disrupts callus Infection-MC with compound Nutrition deficiencies Advanced age
Osteonecrosis occurs MC where?
Hip, knee, shoulder, wrist, ankle
Osteonecrosis occurs from?
MC fractures
Corticosteroids, vasculitis, embolism (sickle cell)
What is osteomyelitis
Bone marrow inflammation- occurs from WBC destroy bone. ACUTE IS MC
Modes of infection of osteomyelitis
- Hematogenous (MC)
- Adjacent infection from soft tissue/joint
- traumatic implantation, aka surgery
Symptoms of osteomyelitis
Throbbing pain
Acute fever
Malaise
Unable to identify microbe in 1/2 of all cases
Most common bacterial cause of osteomyelitis
Staphylococcus aureus***
In neonates- E. coli, Group B streptococci
Sickle cell disease
Pyogenic Osteomyelitis
Involucrum- surrounds infected bone
Sequestrum- entrapped necrotic bone
Draining Sinus- pus (abscess) drains into the surrounding soft tissues
Tuberculous Osteomyelitis
Potts disease of the spine
Only occurs in 3% of TB cases
What is the difference between Congenital kyphosis type 1 and type 2
Type 1- failed development
Type 2- failed segmentation
