Term
Activating mutation in fibroblast growth factor receptor 3 (FGRF3)
Short extremities, normal sized head and chest
Poor endochondral bone formation |
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Definition
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Term
Autosomal dominant defect in Type I collagen synthesis
Blue sclera
Fragile bones |
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Definition
Osteogenesis imperfecta
Blue sclera from underlying choroidal veins |
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Term
Poor bone resorption resulting in abnormally thick heavy bones that fracture easily
Poor osteoclast function |
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Definition
Osteopetrosis
Fractures
Anemia (bony replacement of marrow; myelophthisic process)
Vision and hearing impairment (impingement on cranial nerves)
hydrocephalus
Renal tubular acidosis |
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Term
Defective mineralization of osteoid due to no calcium and phosphate because of low levels of vitamin D
Pigeon breast deformity
Frontal bossing
Rachitic rosary
Bowing of the legs |
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Definition
Rickets in children
Osteomalacia in adults |
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Term
| Reduction in trabecular bone mass with porous bone. Increased risk for fracture |
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Definition
Osteoporosis
Peak bone mass depends on genetics, diet, and exercise |
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Term
Bone pain
Increasing hat size
Hearing loss
Lion-like facies
Isolated elevated alkaline phosphatase
Mosaic pattern of lamellar bone |
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Definition
Paget's Disease of the bone
Due to imbalance bweetween osteoclast and osteoblast function
High output cardiac failure results due to formation of AV shunts in bone |
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Term
| Most common bacteria causing osteomyelitis (90%) |
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Definition
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Term
| Bacteria causing osteomyelitis of sexually active young adults |
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Definition
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Term
| Bacteria causing osteomyelitis associated with sickle cell patients |
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Definition
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Term
| Bacteria causing osteomyelitis associated with diabetics or IV drug users |
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Definition
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Term
| Bacteria causing osteomyelitis associated with dog/cat bites |
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Definition
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Term
| Bacteria causing osteomyelitis of vertebra |
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Definition
Mycobacterium tuberculosis
(Pott's disease) |
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Term
| Lytic focus (abscess) surrounded by sclerosis of bone on x-ray |
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Definition
Osteomyelitis
Kids: metaphysis
Adults: epiphysis |
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Term
Disruption of cartilage that lines articular surface
Eburnation of bone
Osteophyte formation |
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Definition
Degenerative Joint disease (osteoarthritis)
Worsens with use/activity |
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Term
| Hallmark is synovitis leading to formation of a pannus (inflamed granulation tissue) |
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Definition
Rheumatoid arthritis
Improves with movement (crankin' out the inflammatory debris)
Associated with HLA DR4 |
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Term
Sacroiliac joint and spine arthritis
Bamboo spine
Uveitis
Aortitis (aortic insufficiency) |
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Definition
Seronegative spondyloarthritis:
Ankylosing spondyloarthritis |
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Term
Arthritis
Uveitis
Conjunctivitis
Usually after a GI or Chlamydia infection |
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Definition
Seronegative spondyloarthritis:
Reiters Syndrome |
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Term
| Involvement of the DIP joints to cause "sausage" fingers or toes |
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Definition
Seronegative spondyloarthritis:
Psoriatic arthritis |
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Term
Negative birefringement in polarized light
Appears like yellow needle shaped crystals |
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Definition
Gout
Excess uric acid, forming monosodium urate crystals |
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Term
Rhomboid crystals that turn weakly positive refringement on polarized light (blue)
Due to calcium pyrophosphate |
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Definition
Pseudogout
Due to calcium pyrophosphate |
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Term
IgM antibody against Fc portion of IgG
Associated with HLA-DR4 |
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Definition
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Term
Bilateral proximal muscle weakness
Rush of upper eyelids
Red papules on elbows, knuckles, and knees
Perimysial inflammation with perifascicular atrophy on biopsy |
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Definition
Dermatomyositis
Heliotrope rash
Grotton lesion |
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Term
Resembles dermatomyositis clinically, but skin not involved
endomysial inflammation with necrotic muscle fibers on biopsy |
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Definition
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Term
Muscle wasting and replacement of muscle by adipose tissue
Calf pseudohypertrophy
Dystrophin deletion |
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Definition
Duchenne Muscular dystrophy
Death occurs from cardiac or respiratory failure |
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Term
Muscle wasting and replacement of muscle by adipose tissue
Calf pseudohypertrophy
Dystrophin mutation |
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Definition
| Becker Muscular Dystrophy |
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Term
Antibodies that compete with the post synaptic ACh receptors.
Diplopia/Ptosis
Weakness that improves with rest
Thymic hyperplasia/thymoma |
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Definition
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Term
Antibodies compete against presynaptic calcium channels of NMJ
Eye weakness spared
Improvement with muscle use
Associated with malignancy |
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Definition
Eaton-Lambert Syndrome
Resolves with resection of cancer |
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