Ch 64 Flashcards

1
Q

This is referred to as “dwarf syndrome”

A

osteochondrodysplasia

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

Protocol consists assessing the following regarding skeletal dysplasia

A
  1. Limb shortening
  2. Limb contour
  3. Thoracic circumference / shape
  4. Check hand and foot anomalies
  5. Evaluate face for anomalies
  6. Rule out other anomalies such as hydrocephaly, heart defects, and non-immune hydrops
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Shortening of the proximal segments {humerus and femur}

A

Rhizomelia

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

Shortening of the middle segments {radius / ulna and the tibia / fibia

A

Mesomelia

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

Shortening of the entire extremity

A

Micromelia

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

Distal segments {hands}

A

Acromelia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Thanatophoric dysplasia / dwarfism occurs _______

A

1 : 4,000 - 10,000

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

What is the most common lethal skeletal dysplasia

A

Thanatophoric dysplasia / dwarfism

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

With thanatophoric dysplasia both parents are of normal stature {T/F}

A

True

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

Short, curved femurs and flat vertebral bodies describes thanatophoric dysplasia type ___

A

Type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Short, straight femurs, flat vertebral bodies and a cloverleaf skull describes thanatophoric dysplasia type ___

A

Type II

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Sonographic findings of thanatophoric dysplasia

A
Severe Micromelia 
Narrow thorax
Cloverleaf skull 
Protuberant abdomen 
Frontal bossing 
Hypertelorism 
Flat vertebral bodies {platyspondyly}
Polyhydramnios, hydrocephaly, nonimmune hydrops
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the most common NONLETHAL skeletal dysplasia?

A

Achrondroplasia

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

Form of achondroplasia with a good survival rate, normal intelligence and life span; inherited from one parent

A

Heterozygous achondroplasia

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

Form of achondroplasia that is lethal; narrow thorax resulting in respiratory complications. This is inherited from two parents.

A

Homozygous achondroplasia

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

With achondroplasia, sonography features may not be evident until after ____ weeks

A

22

17
Q

Sonographic features of achondroplasia {6}

A
  1. Rhizomelia
  2. Microcephaly
  3. Trident hands
  4. Depressed nasal bridge
  5. Frontal bossing
  6. Mild ventriculomegaly
18
Q

What is achondrogenesis caused by??

A

Caused by cartilage abnormalities
•abnormal bone formation
•hypomineralization

19
Q

This is the more severe form and is transmitted in an autosomal recessive mode; achondrogenesis type ___

A

Type I - {parents-fraccaro}

20
Q

This is a less severe form of achondrogenesis, but it is MORE COMMON, and the result of a spontaneous mutation. Achondrogenesis type ___

A

Achondrogenesis type II

21
Q

Abnormal growth and density of cartilage and bone

A

Skeletal dysplasia