chapter 20 (bones, joints, and soft tissue tumors) Flashcards

0
Q

a developmental anomaly of bone is referred to generally as?

A

Dysostosis

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1
Q

what tissues make-up the musculoskeletal system

A

osseous, muscular and connective tissue

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2
Q

what is the most common defective ossification associated with dysostosis?

A

fetal cartilage

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3
Q

the structural development during embryologic development is known as?

A

Homeobox gene

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4
Q

what is Aplasia

A

absent or incomplete development (abnormal function)

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5
Q

aplasia, supernumerary digits and abnormal fusion of bones are all examples of ?

A

dysostosis

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6
Q

the interference with growth or homeostasis is referred to in general as?

A

dysplasia

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7
Q

dysplaisa can effect what type of tissues

A

bone and cartilage

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8
Q

what is the AKA for osteogenesis imperfectia

A

brittle bone disease

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9
Q

what is the most common inherited connective tissue disorder

A

osteogenesis imperfecta

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10
Q

what is osteogenesis imperfecta

A

mutations of Type -1 collagen

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11
Q

what will osteogenesis imperfecta cause

A

abnormal structure –> premature breakdown

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12
Q

fractures, extremity bowing, scoliosis, and ligamentous laxity are all symptoms of ?

A

osteogenesis imperfecta

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13
Q

what is the most common form or dwarfism

A

Achondroplasia

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14
Q

shortening of proximal extremities, bowing of legs, frontal bossing, mid-face hypoplasia are all symptoms of ?

A

Achondroplasia

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15
Q

achondroplasia has spontaneous point mutations in what percent of individuals?

A

80%

16
Q

what is excessive rounding of the frontal bone

A

frontal bossing

17
Q

what bones are most effected by Achondroplasia

A

Femur and humerus

18
Q

what type of osteogenesis imperfecta has a normal lifespan and is autosomal dominant

A

Type 1

19
Q

spinal involvement of Achondroplasia will have what type of curves

A

hyperlordosis and hyperkyphosis

20
Q

bullet vertebrae, scoliosis, and central canal stenosis are all symptoms of what congenital disorder

A

Achondroplasia

21
Q

extremely small thorax, shortened long bones, and perinatal respiratory failure are associated with what form of Achondroplasia

A

Thanatophoric dwarfism

22
Q

what can thanatrophoric dwarfism be mistake as

A

osteogenesis imperfecta type II

23
Q

what is a group of rare genetic disorders that have decreased osteoclast-mediated bone resorption

A

osteopetrosis

24
Q

what congenital disorder has skeletal sclerosis aka “stone-like” bone causing and increase risk of fractures

A

osteopetrosis

25
Q

radiologically those with achondroplasia may present with what finding

A

Trident hand

26
Q

bright white bone, no medullary cavity and erlenmeyer flask deformity is characteristic of what disease

A

osteopetrosis

27
Q

what is the general term for loss of bone density

A

osteopenia