Ch 64

Question 1

This is referred to as “dwarf syndrome”

Answer 1

osteochondrodysplasia

Question 2

Protocol consists assessing the following regarding skeletal dysplasia

Answer 2

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

Question 3

Shortening of the proximal segments {humerus and femur}

Answer 3

Rhizomelia

Question 4

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

Answer 4

Mesomelia

Question 5

Shortening of the entire extremity

Answer 5

Micromelia

Question 6

Distal segments {hands}

Answer 6

Acromelia

Question 7

Thanatophoric dysplasia / dwarfism occurs _______

Answer 7

1 : 4,000 - 10,000

Question 8

What is the most common lethal skeletal dysplasia

Answer 8

Thanatophoric dysplasia / dwarfism

Question 9

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

Answer 9

True

Question 10

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

Answer 10

Type I

Question 11

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

Answer 11

Type II

Question 12

Sonographic findings of thanatophoric dysplasia

Answer 12

Severe Micromelia 
Narrow thorax
Cloverleaf skull 
Protuberant abdomen 
Frontal bossing 
Hypertelorism 
Flat vertebral bodies {platyspondyly}
Polyhydramnios, hydrocephaly, nonimmune hydrops

Question 13

What is the most common NONLETHAL skeletal dysplasia?

Answer 13

Achrondroplasia

Question 14

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

Answer 14

Heterozygous achondroplasia

Question 15

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

Answer 15

Homozygous achondroplasia

Question 16

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

Answer 16

22

Question 17

Sonographic features of achondroplasia {6}

Answer 17

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

Question 18

What is achondrogenesis caused by??

Answer 18

Caused by cartilage abnormalities
•abnormal bone formation
•hypomineralization

Question 19

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

Answer 19

Type I - {parents-fraccaro}

Question 20

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

Answer 20

Achondrogenesis type II

Question 21

Abnormal growth and density of cartilage and bone

Answer 21

Skeletal dysplasia

Question 22

Rare disorder of collagen production leading to brittle bones

Answer 22

Osteogenesis imperfections

Question 23

What is the most severe form of osteogenesis imperfecta?

Answer 23

Type II