Exam 1--Sec. 1 Musculoskeletal Pathologies Flashcards
What is the term for a disorder of bony development, which commonly results in defective ossification of the skeletal system?
Dysostosis
What are some examples of Dysostosis?
- polydactyly
- syndactyly
- aplasia (absense of bodily structure)
- cleidocranial dysostosis
- Klippel-Feil Syndrome
Following what irregularity does dysostoses develop after?
following irregular mesenchymal cell migration, during embryogenesis
What is Dysplasia?
a musculoskeletal pathology resulting from a mutation that interfers with the body’s ability to perform normal growth or regulate normal musculoskeletal homeostasis
What are examples of dysplasia?
- type 1 spondylolisthesis (the dysplastic type)
- osteogenesis imperfecta
- osteopetrosis
- achondroplasia
~could be isolated or widespread
What is dwarfism?
a description of stunted growth; does not achieve mature height of at least 4’11’’
What are some pathologies that may result in dwarfism?
- Turner syndrome
- osteogenesis imperfecta
- achondroplasia
- hypopituitarism
What is a form of skeletal dysostosis that involves congenital abnormalities of bones and teeth with clavicles that are underdeveloped or absent?
cleidocranial dysostosis
What is the frequency that cleidocranial dysostosis occurs?
1 in a million inds.
What occurs with the skull bones in someone with cleidocranial dysostosis?
have delayed fusion, result in delayed closure of cranial sutures, causing enlarged frontanelles (“soft spots”), typically have normal intelligence though
About 70% of inds. with cleidocranial dysostosis have a mutation in what gene? What does that gen involve? How is it inherited?
mutation in RUNX2 gene; involves cartilaginous and osseous tissue development; is “master switch” and regulates other genes
inheritence: autosomal dominant
What syndrome is a skeletal dysostosis and is defined by presence of two or more cervical vertebrae having abnormal fusion?
Klippel-Feil Syndrome
Occurs ~ 1 in 40,000
What abnormalities in the neck and other places in the body does Klippel-Feil syndrome cause?
- shortened neck height and low-appearing hairline and limited motion in cervical spine
- cause cervical neck pain and headaches
Other: - renal abnormalities, cardiac abnormalities, and hearing problems
~Sprengel’s deformity
What is Sprengel’s Deformity and what other disorder is it characteristically ass. with?
is a skeletal abnormality of the scapula due to failure of scapula to descend during embryogenesis –> may involve congenital bony fusion (ankylosis) b/w scapula and lower C or upper T spine
ass. with Klippel-Feil syndrome
What is the most common form of skeletal dysplasia and what gene is involved?
Achondroplasia; a gain-of-function mutation in FGFR3 gene; usually the gene suppresses endochondral growth; these affects long bone elongation of extremity bones
How does achondroplasia occur?
- inherited ~10% cases, autosomal dominant
- most are a sporadic mutation in FGFR3 gene w/in father’s sperm
What increases the risk of one having achondroplasia due to a spontaneous FGFR3 gene?
advanced paternal age increases the risk of father’s sperm developing the spontaneous mutation
What are characteristics of achondroplasia?
- short extremity bones
- trident hand appearance
- stenosis of foramen magnum
- frontal bossing
- midface hypoplasia
- lumbar spinal stenosis
- bullet vertebrae (scoliosis and extreme kyphosis or lordosis)
- lower extremity radiculopathy (from lumbar stenosis)
- normal intelligence
What is the most common form of lethal dwarfism that is incompatible with postnatal life and how common is it? How is the thorax affected?
Thanatophoric dwarfism (~ 1 in 20,000)
Severely underdeveloped thorax does not provide enough space for normal heart and lung development
What is severely diminished in Thanatophoric dwarfism? What gene is mutated?
chondrocyte activity–resulting in inhibited endochondral ossification
same FGFR3 gene mutation as in traditional achondroplasia
What is the most common cause of death of thanatophoric dwarfism?
respiratory failure (due to underdeveloped thorax)
What dysplasia disorder is due to mutation in formation of type 1 collagen, causing it to take on irregular shape resulting in premature breakdown?
Osteogenesis imperfecta (AKA brittle bone disease, type 1 collagen disease, or OI)
What tissues are affected in osteogenesis imperfecta, which tissues are prominently affected??
all tissues containing type 1 collagen; esp. bones, teeth, eyes, skin, and joints
~hearing issues, small teeth
What are two unique features of osteogenesis imperfecta?
- severely under-mineralized bony tissues = very prone to fracture
- “blue sclerae”–> due to more translucent sclerae of eyes and vascular choroid layer showing bluish color
T/F. Type I Osteogenesis imperfecta is incompatible with life.
False. it IS compatible with life
How is Type I osteogenesis imperfecta most commonlly recognized?
in childhood due to multiple fractures, bowing of weight-bearing lower extremity bones, dwarfism, or scoliosis
What do we need to keep in mind with patients with Type I osteogenesis imperfecta?
severe skeletal fragility and DO NOT use HVLA adjusting
Is Type II osteogenesis imperfecta compatible with post-natal life? why or why not?
NO! Due to extreme skeletal fragility and ind. suffers multiple fracture in utero or during birth process and usually causes lethal intracranial hemorrhage
Children that are treated with bisphosphonates for their osteogenesis imperfecta will have what bone appearance on x-ray?
Zebra Stripe Sign
What describes a group of conditions that are characterized by reduced osteoclast formation/activity? What does it result in?
Osteopetrosis (AKA marble bone disease)
Results in widespread skeletal sclerosis
What does sclerosis mean?
abnormal hardening of a body tissue
What are the affects to the bone in osteopetrosis?
increased skeletal density, and therefore more prone to fractures due to ridged and inflexible
“chalk stick” pathological fractures, straight across
What are some clinical features of someone with osteopetrosis?
bone marrow mineralizes—therefore reduced hematopoiesis
- decreased RBCs = anemia
- decreased WBCs = infections
- Erlenmeyer flask deformity
- CN defects due to foraminal stenosis
What is osteoporosis?
a common condition involving a severe reduction in bone mineral density, defined as being at least -2.5 standard deviations from normal mineralization
What is the primary complication from osteoporosis and where does that most commonly occur?
fractures in trachecular bone (VBs of spine, femur, or calcaneus)
How is bone mineral density evaluated?
DEXA scan determines how many standard deviations patient’s bone mineralization is away from normal of a 25 yr old = “T-score”
What is a T-score vs a Z-score?
T-score = compare you to age of same sex of optimal time period
Z-score = compare you to inds your age, sex, and weight and where they are at
What is osteopenia?
a term used for bone mineralization below normal, but not yet severity of osteoporosis; therefore b/w 1 and 2.5 standard deviations below normal
When does bone mineralization peak and what happens to it after that?
young adulthood, age 25-30, then decreases ~0.5% every year after
What factors influence inds bone mineral density?
genetic factors, diet, lifestyle choices (smoke/drink), level of physical activity, muscle strength, age, hormones
What is the term for when osteoblast activity decreases with age and there is age-related loss in bone mineralization? Why does this occur?
senile osteoporosis
- older adults more likely to be inactive
- after menopause rates increase of osteoclast activity and due to reduced estrogen levels
T/F. Osteopenia and osteoporosis are asymptomatic.
True. Until there is a fracture
Where are the MC locates for osteoporosis-related fractures?
- femoral neck
- VBs–> cause compression fracture MC in thoracolumbar
What is the term for a loss of overall height observable with advanced osteoporosis?
“Dowager’s hump”
What are complications from osteoporosis-related fractures?
- immobility
- spinal deformity (lateral curve in T/L or lordosis in L)
- pneumonia
- pulmonary embolism
How can one help prevent osteoporosis?
- max. deposition of bone mineralization in childhood/young adulthood
- regular physical exercise
- diet rich in Vit. D and get UV exposure
- good vision and hearing
What medication can be used to help decrease osteoclast activity?
bisphosphonates
What are two metabolic bone disease that develop after Vitamin D deficiency?
Rickets and Osteomalacia
What is Rickets?
develpos in children due to deficiency in Vit. D; reduced bone deposition in epiphyseal region (growth plate); causes stunt growth, bowing of legs, and increased risk of fractures, and abnorm spinal curvatures
What is osteomalacia?
- develops in adults due to Vit. D deficiency
- faulty bone turnover and bone left under-mineralized
- increases risk of fracture
- less severe than Rickets
- mimics osteoporosis