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Systems Pathology > Ch. 20 - Congenital bone/cartilage diseases > Flashcards

Ch. 20 - Congenital bone/cartilage diseases Flashcards

1
Q

Musculoskeletal system (MSK) is also known as what?

A

The locomotor system

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2
Q

Tissues involved in the musculoskeletal system?

A

osseous, muscular, connective

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3
Q

The musculoskeletal system integrates with what other system?

A

The nervous system

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4
Q

Congenital disorders?

A 
Dystosis 
Dysplasia
osteogenesis imperfect (O.I.)
achondroplasia
osteopetrosis
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5
Q

What is dysostosis?

A

Developmental anomaly of bone

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6
Q

Dysostosis includes what features?

A

Abnormal mesenchymal migration

Defective ossification of fetal cartilage

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7
Q

Dysostosis can either be ______ or part of a _____?

A

Sporadic (isolated)

syndromes

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8
Q

Dysostosis contains what kind of gene alterations?

A

homeobox gene alterations

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9
Q

The homeobox gene deals with what?

A

Structural development during embryologic development

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10
Q

This condition shows: 1) aplasia, 2) supernumary digits, and 3) abnormal fusion of bones.

A

dysostosis

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11
Q

Mutations that interfere with growth or homeostasis (dwarfism). (condition)

A

dysplasia

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12
Q

Dysplasia in bone called:

A

osteodysplasia

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13
Q

Dysplasia in cartilage called:

A

chondrodysplasia

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14
Q

Dysplasia in this context is ____ pre-cancerous?

A

NOT

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15
Q

A type of dysostosis that shows Sprengel’s Deformity, is idiopathic, and has congenital fusion of any 2 cervical vertebrae

A

Klippel -Feil syndrome

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16
Q

What is the MC congenital malformation of the limbs?

A

syndactyly

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17
Q

What is the ratio of live births showing syndactyly?

A

1:2000-3000 live births

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18
Q

Two features of digits that show up in dysostosis?

A

Syndactyly and

polydactyly

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19
Q

Osteogenesis imperfect (O.I.) is also known as what?

A

Brittle bone disease

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20
Q

O.I. has mutations of what?

A

Type 1 collagen (alpha1 or alpha2 chains)

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21
Q

The type of mutations in O.I. of collagen type 1 is _____ dominant.

A

autosomal dominant

22
Q

Abnormal collagen in O.I. leads to what?

A

Premature breakdown

23
Q

Abnormal extracellular matrix in O.I. affects what areas?

A

Eyes, inner ear bones, skin, joins, teeth

24
Q

Type I O.I. life expectancy

A

Normal lifespan

25
Q

Type II O.I. life expectancy

A

Lethal in uteral

26
Q

Type II O.I. causes what to happen in utero?

A

Cerebral hemorrhage,

Respiratory failure.

27
Q

When is type I O.I. diagnosed?

A

In childhood

28
Q

What are common things associated with type 1 O.I.

A

Fractures, extremity bowing, scoliosis, ligamentous laxity (dislocations), hearing loss, short stature

29
Q

Children with O.I. who have been treated with biophosphates (cyclical) show what sign on radiography?

A

Zebra stripe sign

30
Q

What is the MC form of dwarfism?

A

Achondroplasia

31
Q

How does achondroplasia lead to dwarfism?

A

Decreased cartilage synthesis leads to deceased growth plate expansion.

32
Q

What inhibits the epiphyseal (growth plate) chondrocytes?

A

FGFR3 (Fibroblast growth factor receptor) mutation

33
Q

What is the percentage of spontaneous achondroplasia?

A

75%

34
Q

What is the percentage of autosomal dominant achondroplasia?

A

25%

35
Q

What are some feature of those with achondroplasia?

A

Short proximal extremities, lower extremity bowing, frontal bossing,
mid-face hypoplasia (low nasal bridging)

36
Q

The lollipop kids on “The WIzard of Oz” are which kind of dwarfism?

A

hypopituitary dwarfism

37
Q

What are some other causes of dwarfism?

A

Turner syndrome
Hypothyroidism
Malnutrition
O.I.

38
Q

What is the incidence of achondroplasia?

A

1:10,000

39
Q

What are some features of the spinal column in achondroplasia?

A

hyperlordosis and kyphosis at birth
Bullet vertebrae
Scoliosis
Spinal stenosis

40
Q

What other types of stenosis can occur in achondroplasia?

A

foramen magnum stenosis

Spinal canal stenosis

41
Q

What can cause death in achondroplasia?

A

Brain stem compression

42
Q

What else can be lethal with achondroplasia?

A

Cardiovascular abnormalities

43
Q

What is the fatal type of dwarfism?

A

thanatophoric dwarfism

44
Q

What is the incidence of thanatophoric dwarfism?

A

1 : 20,000 births

45
Q

What happens in thanatophoric dwarfism?

A

Extremely small thorax and shortened long bones that lead to perinatal respiratory failure.

46
Q

What is osteopetrosis?

A

A group of rare genetic disorders that decrease osteoclast-mediated bone reabsorption.

47
Q

Osteopetrosis creates what?

A

Skeletal sclerosis or “stone-like” bone

48
Q

Skeletal sclerosis in osteopetrosis can lead to what?

A

Increased fractures.

49
Q

Besides increase fractures what other things happen with osteopetrosis?

A

formainal stenosis –> cranial nerve palsied

medullary cavity fills –> deranged hematopoies

50
Q

In osteopetrosis, when the medullary cavity fills it also can lead to what?

A 
hepatosplenomegaly
Recurrent infections (anemia)
51
Q

What is the treatment for osteopetrosis?

A

Stem cell replacement

52
Q

What are some features on x-ray of osteopetrosis?

A

White bone because of no medulla and

Erlenmeyer flask deformity

Systems Pathology (2 decks)

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