Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

NYCC MSP > Hereditary Bone Conditions > Flashcards

Hereditary Bone Conditions Flashcards

1
Q

What is the most common form of Dwarfism?

A

Achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the most common disorder of growth plates of the appendicular skeleton?

A

Achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What gene is associated with decreased chondrocyte replications the growth plate in the most common type of dwarfism?

A

Autosomal dominant
(Fibroblast Growth Factor Receptor 3 (FGFR3))

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What physical attributes do you expect to see in patients with Achondroplasia?

A
  • Normal sized torso, but shortened limbs (Rhizomelic appearance)
  • head>face
  • depressed nasal ridge
  • thoracic hyperkyphosis
  • lumbar hyperlordosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Do individuals with achondroplasia have a normal life expectancy?

A

Yes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What radiographic characteristics do you expect to see in patients with Achondroplasia?

A
  • bullet vertebrae
  • post. vertebral scalloping
  • congenital central stenosis
  • Hyperlordosis w/ horizontal sacrum when skeletally mature
  • Short broad metaphysis
  • Champagne glass appearance
  • flat ilia (paddle-shaped)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Stenosis of the vertebral foramen is a major concern in what conditions?

A

Achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What collagen synthesis disorder has an increased chance of developing mitral valve prolapse and dissecting aneurysms?

A

Marfan’s Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What gene mutation is commonly associated with Marfan’s Syndrome?

A

Autosomal dominant (FBN1 gene)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are some of the clinical characteristics of patients with Marfan’s Syndrome?

A
  • M>F
  • Tall, slender individuals (long extremities)
  • Arachnodactyly
  • Hypermobile joints
  • Scoliosis
  • pectus excavatum (sternum in)
  • pectus carinatum (sternum out)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are some radiographic findings you would see with patients with Marfan’s syndrome?

A
  • scoliosis
  • elongated extremities (arachnodactyly)
  • thin, gracile bones
  • thin cortices
  • delicate trabecular pattern
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What inherited collagen synthesis disorder is also known as Brittle Bone disease?

A

Osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What type of OI is considered the most fatal and characterized by developmental defects including extremely brittle bones?

A

Osteogenesis Imperfecta Congenital

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What type of OI is characterized by the anterior bowing of the extremities, the sclera of the eyes turning blue, and hearing loss due to bony deformities?

A

Osteogenesis Imperfecta Tarda

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What conditions is characterized by the hypofunctioning of osteoclasts and is called Marble Bone Disease?

A

Osteopetrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What radiographic finding would you expect to see in patients with Osteopetrosis?

A
  • Widening of metaphysis (“Erlenmeyer Flask” appearance)
  • Lack of defined medullary cavity (radiopaque bone appearance)
  • Sandwich vertebrae
17
Q

What would you expect PTH levels to be in patients with Osteopetrosis?

A

Elevated (boobs)

18
Q

In a normal, healthy individual, PTH will have what effect in the kidney?

A

Increase production of calcitriol

19
Q

What is the heredity of cleidocranial dysplasia?

A

Autosomal dominant

20
Q

Etiology of cleidocranial dysplasia

A

Mutation of gene that helps encode osteoblasts

21
Q

Cleidocranial dysplasia results in deficiency of ____ ossification, affecting what bones?

A

Intramembranous
Flat bones (skull, clavicles)

22
Q

What are the clinical features of cleidocranial dysplasia?

A
  • large head, small face
  • hypermobile shoulders (scapulothoracic)
  • reduced height
  • narrow, cone-shaped thorax
  • hearing loss
  • normal life span
23
Q

What are the radiographic features of cleidocranial dysplasia?

A
  • absent/hypoplastic clavicles
  • pseudoarthrosis (mid portion missing)
  • small, winged, elevated scapulae
  • narrow, cone-shaped chest
24
Q

What tool is used to assess hypermobility?

A

Beighton Questionnaire

25
Q

Osteogenesis imperfecta has ____ genotypes, and ____ phenotypes

A

4
2

26
Q

Osteogenesis imperfecta is a defect in…

A

Type I collagen synthesis

27
Q

What are the clinical manifestations of osteogenesis imperfecta tarda?

A
  • congenital osteoporosis
  • blue sclera
  • conductive hearing loss
  • severe dental problems
28
Q

What are the radiographic findings of osteogenesis imperfecta?

A
  • mild to severe generalized osteopenia
  • multiple fractures in various stages of healing
29
Q

What is the heredity of osteopetrosis?

A

2 forms:
- autosomal dominant
- autosomal recessive

30
Q

What are the clinical features of osteopetrosis?

A
  • possible growth disturbances
  • facial palsies (facial n compressed)
  • neurogenic hearing loss (CN VIII compressed)
  • dental caries
31
Q

What are the possible complications of osteopetrosis?

A
  • pathologic Fx
  • anemia
  • thrombocytopenia
  • hepatosplenomegaly
  • blindness/deafness/facial n palsies
  • leukaemia & sarcomas

NYCC MSP (28 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions