Exam 1- Musculoskeletal Pathologies Flashcards Preview

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Flashcards in Exam 1- Musculoskeletal Pathologies Deck (145)
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1

____ may induce a fracture in musculoskeletal pathologies.

Trauma

2

Age, Genetics and Lifestyle choices are more likely to have an influence on the development of a condition like ________

Osteoporosis

3

Disorder of bony development resulting in defective ossification of the skeletal system
Develops due to irregular mesenchymal cell migration, during embryogenesis

Dysostosis

4

Examples of Dysostoses

Cleidocranial Dysostosis
Klippel-Feil Syndrome
Polydactyly/Syndactyly
Aplasia

5

Musculoskeletal pathology
Interferes with body's ability to perform normal growth or regulate normal musculoskeletal homeostasis
Primarily abnormal bone formation (isolated/widespread)

Dysplasia

6

Examples of Dysplasias

Type 1 Spondylolisthesis
Osteogenesis Imperfecta
Osteoporosis
Achondroplasia

7

Stunted Growth
Individuals does not achieve a mature height of at least 4 ft. 11 in.

Dwarfism

8

Pathologies resulting in Dwarfism

Turner Syndrome
Achondroplasia
Osteogenesis Imperfecta
Hypopituitarism
Severe Malnutrition

9

Form skeletal dysostosis that involves congenital abnormalities of the bones and teeth

Cleiodocranial Dysostosis (Cleidocranial Dysplasia)

10

Characteristically, the ______ are either underdeveloped (hypoplastic) or absent and allows affected individuals to ______ their shoulders to an extreme degree

Clavicles
Adduct

11

Enlarged fontanelles ("soft spots")
Normal intelligence
Mutation in the RUNX2 gene
Autosomal Dominant

Cleidocranial Dysostosis

12

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

13

Conditions associated with Klippel-Feil Syndrome

Renal Abnormalities
Cardiac Abnormalities
Hearing Problems

14

Skeletal abnormality of the scapula
Failure of the scapula to descend during early embryogenesis
Characteristically associated with Klippel-Feil Syndrome

Sprengel's Deformitiy

15

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

16

What is the gene responsible for Achondroplasia?

FGFR3

17

What part of the body is most affected in achondroplasia with growth suppression?

Long bone elongation of the extremity bones

18

Sporadic mutations of Achondroplasia involve mutations in the FGFR3 gene within the

Father's sperm

19

Advanced ______ age increases the risk of father's sperm developing these spontaneous FGFR3 mutations

Paternal

20

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

21

Most common form of lethal dwarfism

Thanatophoric Dwarfism (Thanatophoric Dysplasia)

22

Severely diminished chondrocyte activity resulting in severely inhibited endochondral ossification

Thanatophoric Dwarfism (Thanatophoric Dysplasia)

23

FGFR3 gene mutation that traditionally causes achondroplasia with potentially lethal tissue distortions

Thanatophoric Dwarfism (Thanatophoric Dysplasia)

24

Lethal in utero or shortly after birth
1 in 20,000 pregnancies

Thanatophoric Dwarfism (Thanatophoric Dysplasia)

25

Greek for "death bearing"

Thanatophoric

26

Severely underdeveloped _____ does not provide enough space for normal heart and lung development

Thorax

27

Most common cause of death among individuals affected with thanatophoric dwarfism

Respiratory Failure

28

Also known as brittle bone disease or Type I Collagen Disease

Osteogenesis Imperfecta (OI)

29

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)

30

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)