Exam 1- Musculoskeletal Pathologies Flashcards
____ may induce a fracture in musculoskeletal pathologies.
Trauma
Age, Genetics and Lifestyle choices are more likely to have an influence on the development of a condition like ________
Osteoporosis
Disorder of bony development resulting in defective ossification of the skeletal system
Develops due to irregular mesenchymal cell migration, during embryogenesis
Dysostosis
Examples of Dysostoses
Cleidocranial Dysostosis
Klippel-Feil Syndrome
Polydactyly/Syndactyly
Aplasia
Musculoskeletal pathology
Interferes with body’s ability to perform normal growth or regulate normal musculoskeletal homeostasis
Primarily abnormal bone formation (isolated/widespread)
Dysplasia
Examples of Dysplasias
Type 1 Spondylolisthesis
Osteogenesis Imperfecta
Osteoporosis
Achondroplasia
Stunted Growth
Individuals does not achieve a mature height of at least 4 ft. 11 in.
Dwarfism
Pathologies resulting in Dwarfism
Turner Syndrome Achondroplasia Osteogenesis Imperfecta Hypopituitarism Severe Malnutrition
Form skeletal dysostosis that involves congenital abnormalities of the bones and teeth
Cleiodocranial Dysostosis (Cleidocranial Dysplasia)
Characteristically, the ______ are either underdeveloped (hypoplastic) or absent and allows affected individuals to ______ their shoulders to an extreme degree
Clavicles
Adduct
Enlarged fontanelles (“soft spots”)
Normal intelligence
Mutation in the RUNX2 gene
Autosomal Dominant
Cleidocranial Dysostosis
Form of skeletal dysostosis Presence of 2+ cervical vertebrae w/ abnormal fusion Shortened neck height Low-appearing hairline Limited ROM in cervical spine
Klippel-Feil Syndrome
Conditions associated with Klippel-Feil Syndrome
Renal Abnormalities
Cardiac Abnormalities
Hearing Problems
Skeletal abnormality of the scapula
Failure of the scapula to descend during early embryogenesis
Characteristically associated with Klippel-Feil Syndrome
Sprengel’s Deformitiy
MC form of skeletal dysplasia and develops following a single gene mutation that affects many different areas of the musculoskeletal system
Autosomal dominant
MC Sporadic Mutations
Achondroplasia
What is the gene responsible for Achondroplasia?
FGFR3
What part of the body is most affected in achondroplasia with growth suppression?
Long bone elongation of the extremity bones
Sporadic mutations of Achondroplasia involve mutations in the FGFR3 gene within the
Father’s sperm
Advanced ______ age increases the risk of father’s sperm developing these spontaneous FGFR3 mutations
Paternal
Characteristics of Achondroplasia
Short Extremity Bones Trident Hand Appearance Frontal Bossing Stenosis of Foramen Magnum Midface Hypoplasia Lumbar Spinal Stenosis Bullet Vertebrae Lower Extremity Radiculopathy Normal Intelligence
Most common form of lethal dwarfism
Thanatophoric Dwarfism (Thanatophoric Dysplasia)
Severely diminished chondrocyte activity resulting in severely inhibited endochondral ossification
Thanatophoric Dwarfism (Thanatophoric Dysplasia)
FGFR3 gene mutation that traditionally causes achondroplasia with potentially lethal tissue distortions
Thanatophoric Dwarfism (Thanatophoric Dysplasia)
Lethal in utero or shortly after birth
1 in 20,000 pregnancies
Thanatophoric Dwarfism (Thanatophoric Dysplasia)
Greek for “death bearing”
Thanatophoric
Severely underdeveloped _____ does not provide enough space for normal heart and lung development
Thorax
Most common cause of death among individuals affected with thanatophoric dwarfism
Respiratory Failure
Also known as brittle bone disease or Type I Collagen Disease
Osteogenesis Imperfecta (OI)
Autosomal dominant mutation in the genes that code for the formation of α1 - or α2- chains of type I collagen, which causes premature breakdown of bone due to irregular formation
Osteogenesis Imperfecta (OI)
T/F. Only bones, teeth, eyes, skin and joints are affected by Osteogenesis Imperfecta.
False (all tissues throughout body containing Type I Collagen are impacted)
What tissues are prominently impacted by Osteogenesis Imperfecta?
Bones, teeth, eyes, skin and joints
What’s the most characteristic feature of Osteogenesis Imperfecta?
Severely under-mineralized bony tissue (which are very prone to fracture)
The presence of “blue sclerae” is very specific to
Osteogenesis Imperfecta (OI)
What causes the blue shade in the sclerae with an individual with Osteogenesis Imperfecta?
Sclerae is most translucent due to irregular Type I collagen, this allows the vascular choroid layer of eye to show blue
Hearing loss occurs due to middle ear bones irregularly forming
Teeth are likely to be small and misshapen due to an inability to produce normal dentin
Osteogenesis Imperfecta (OI)
What type of Osteogenesis Imperfecta is compatible with life, MC recognized during childhood, bowing of lower extremity bones, dwarfism or scoliosis
Type I Osteogenesis Imperfecta
What type of Osteogenesis Imperfecta is a contraindication to high-velocity, low-amplitude (HVLA) adjusting?
Type I Osteogenesis Imperfecta
What type of Osteogenesis Imperfecta is incompatible with postnatal life due to extreme skeletal fragility, suffer multiple fractures in utero or during birthing process resulting in lethal intracranial hemorrhage?
Type II Osteogenesis Imperfecta
AKA Marble Bone Disease
Osteopetrosis
Reduced osteoclast formation or activity resulting in widespread skeletal sclerosis
Osteopetrosis
Abnormal hardening of a body tissue
Sclerosis
Increased skeletal density, via Osteopetrosis, causes bones to be more prone to ______
Fracture
What is the condition that is occuring if an individual suffers from a “chalk stick fracture”?
Osteopetrosis
Bone marrow of individuals with _____ will fill with mineralized bone, which displaces functional red bone marrow and causes reduced hematopoiesis
Osteopetrosis
Erlenmeyer flask deformity associated with long bone distortion
Various cranial nerve defects due to foraminal stenosis
Osteopetrosis
Serve reduction in bone mineral density
Osteoporosis
At least ____ standard deviations from normal mineralization
-2.5
What is the primary complication of osteporosis?
Fracture
With Osteoporosis, fractures are most common in areas that have abundant ______ bone.
Trabecular
When diagnosing for Osteoporosis, bone mineral density is best evaluated with a
DEXA Scanner
Determines how many SD the patient’s bone mineralization is away from normal (average bone mineral density of a 25 y.o. of the same sex), with a T Score
DEXA Scanner
T/F. Plain film radiography is not sensitive enough to be used as a diagnostic test.
True
Bone mineralization is below normal, but not yet reaching a severity to be considered osteoporosis
Osteopenia
Osteopenia is considered to have a SD of bone mineralization of ___ and ___ SD’s below normal
1 and 2.5
Bone mineralization peaks during young adulthood, around the ages of
25-30
About _____ of individuals bone mineralization is lost with each of the following years.
0.5-0.7%
Factors that influence bone mineral density include:
Lifestyle choices Diet Physical Activity Muscle Strength Age Hormonal Factors
Osteo____ activity decreases with age
-blast