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DMS 400 OB/GYN > Class 18: Fetal Skeleton Anomalies > Flashcards

Class 18: Fetal Skeleton Anomalies Flashcards

1
Q

another name for skeletal dysplasia?

A

osteochondro dysplasia

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2
Q

define osteochondro dysplasia

A

abnormal development of cartilage & bones

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3
Q

incidence of skeletal dysplasias are common. T/F?

A

false

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4
Q

3 associations with osteochondro dysplasia?

A
  1. polyhydramnios
  2. fetal hydrops
  3. decreased fetal activity with lethal types
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5
Q

skeletal dysplasias are always seen with US. T/F?

A

false

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6
Q

when do signs of skeletal dysplasia usually manifest?

A

late 2nd trimester

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7
Q

skeletal dysplasias may not be severe enough to be detected. T/F?

A

true

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8
Q

what should the sonographer document when assessing fetal limbs? (4)

A
  1. existence
  2. length
  3. position
  4. ossification
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9
Q

how to evaluate skeletal dysplasia on US (7)

A
  1. limb shortening
  2. bone contour
  3. degree of ossification
  4. thoracic circumference & shape
  5. hand & foot anomalies
  6. face & face profile
  7. other associated anomalies
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10
Q

what is rhizomelia?

A

shortened proximal extremity (humerus & femurs)

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11
Q

what is mesomelia?

A

middle limb segment shortened (radius, ulna, tibia, fibula)

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12
Q

what is acromelia?

A

distal extremity shortening (phalanges & metacarpals)

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13
Q

what is micromelia?

A

shortening of entire extremity

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14
Q

what is amelia?

A

absence of entire extremity

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15
Q

what is the most common lethal skeletal dysplasia?

A

thanatophoric dysplasia

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16
Q

what is the cause of thanatophoric dysplasia?

A

unknown

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17
Q

5 characteristics of thanatophoric dysplasia?

A
  1. very flat vertebral bodies
  2. extreme micromelia, especially rhizomelia
  3. telephone receiver long bones
  4. narrow thorax
  5. champagne cork app
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18
Q

the following abnormalities are associated with which dysplasia?
- macrocephaly
- frontal bossing
- horseshoe kidney
- imperforate anus
- atrial septal defects
- cloverleaf skull
- massive polyhydramnios

A

thanatophoric dysplasia

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19
Q

characteristics of type 1 thanatophoric dysplasia?

A

short & curved femur
flat vertebral bodies

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20
Q

characteristics of type 2 thanatophoric dysplasia?

A

short & straight femur
flat vertebral bodies
craniosynostosis –> cloverleaf skull

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21
Q

achondrogenesis is a lethal form of dysplasia. T/F?

A

true

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22
Q

cause of achondrogenesis

A

CARTILAGE abnl –> abnl bone formation & hypomineralization

23
Q

what characteristics of achondrogenesis differentiates it from thanotophoric dysplasia?

A

short trunk & hypomineralization

24
Q

characteristics of type 1 achondrogenesis

A
  1. autosomal recessive
  2. hypomineralization of BOTH skull & vertebral bodies
  3. fractures
25
characteristics of type 2 achondrogenesis
1. spontaneous with autosomal mutation 2. hypomineralization of only vertebral bodies 3. no fractures
26
what is the most common nonlethal dwarfism?
achondroplasia
27
achondroplasia is autosomal recessive or spontaneous. T/F?
false -- it's autosomal dominant or spontaneous
28
the following are characteristics of which skeletal dysplasia? - frontal bossing - rhizomelic limb bowing - trident finger configuration - possible macrocephaly or hydrocephaly
achondroplasia
29
what is osteogenesis imperfecta?
bones are abnormally fragile due to hypomineralization of the ENTIRE skeleton; many bone fractures & deformities
30
what is the cause of osteogenesis imperfecta?
too little or poor quality collagen
31
what is type 1 osteogenesis imperfecta?
mild -- normal life expectancy fractures after birth fragile bones & loose joints growth deficiency autosomal dominant
32
what is type 2 osteogenesis imperfecta?
lethal -- long bone & rib fractures hypomineralization in US
33
which type of osteogenesis imperfecta is seen in US?
only type 2
34
what is type 3 osteogenesis imperfecta?
handicap type -- bones progressively deform throughout life fractures at birth or when starting to walk autosomal dominant/recessive
35
what is type 4 osteogenesis imperfecta?
mildest type -- bones fracture easier than normal short stature
36
another name for camptomelic dysplasia?
campomelic dysplasia
37
is campomelic dysplasia lethal?
yes
38
how common is campomelic dysplasia?
rare
39
the following are characteristics of what dysplasia? - shortened & bowed long bones of legs (especially tibia & fibula) - narrow chest - large calvarium with small face - hypoplastic scapulae - clubfoot
camptomelic dysplasia
40
where can polydactyly be found?
lateral or medial side of extremity
41
possible associations with polydactyly?
1. trisomy 13, 18, 21 2. ellis van-creveld syndrome 3. rubenstein-taybi syndrome
42
what is holt-oram syndrome?
condition with no thumbs
43
2 associations with holt-oram syndrome
1. congenital abnormalities of the heart 2. phocomelia of upper limbs
44
what is phocomelia?
proximal portion of extremities are absent or hypoplastic
45
VACTERL associations are more commonly found in which patient?
diabetic mothers
46
what is talipes equinovarus?
clubfoot -- median deviation of the sole of foot
47
5 possible associations for clubfoot?
1. genetic syndrome (tri 18) 2. spina bifida 3. caudal regression syndrome 4. muscular dystrophy 5. oligohydramnios
48
what is caudal regression syndrome?
a range of malformations of the caudal end of the neural tube, leading to underdeveloped/agenesis of coccyx area
49
single umbilical artery may be associated with caudal regression syndrome. T/F?
true
50
what type of twinning may be associated with caudal regression syndrome?
monozygotic
51
which drug is associated with caudal regression syndrome?
cocaine
52
what is sirenomelia?
variable fusion of lower extremities, leading to the mermaid sign on US
53
3 associations with sirenomelia?
1. bilateral renal agenesis 2. oligohydramnios 3. SUA

DMS 400 OB/GYN (21 decks)

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