Exam 1- Musculoskeletal Pathologies Flashcards
(145 cards)
____ 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)