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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
Q

characteristics of type 2 achondrogenesis

A
  1. spontaneous with autosomal mutation
  2. hypomineralization of only vertebral bodies
  3. no fractures
26
Q

what is the most common nonlethal dwarfism?

A

achondroplasia

27
Q

achondroplasia is autosomal recessive or spontaneous. T/F?

A

false – it’s autosomal dominant or spontaneous

28
Q

the following are characteristics of which skeletal dysplasia?
- frontal bossing
- rhizomelic limb bowing
- trident finger configuration
- possible macrocephaly or hydrocephaly

A

achondroplasia

29
Q

what is osteogenesis imperfecta?

A

bones are abnormally fragile due to hypomineralization of the ENTIRE skeleton; many bone fractures & deformities

30
Q

what is the cause of osteogenesis imperfecta?

A

too little or poor quality collagen

31
Q

what is type 1 osteogenesis imperfecta?

A

mild – normal life expectancy
fractures after birth
fragile bones & loose joints
growth deficiency
autosomal dominant

32
Q

what is type 2 osteogenesis imperfecta?

A

lethal – long bone & rib fractures
hypomineralization in US

33
Q

which type of osteogenesis imperfecta is seen in US?

A

only type 2

34
Q

what is type 3 osteogenesis imperfecta?

A

handicap type – bones progressively deform throughout life
fractures at birth or when starting to walk
autosomal dominant/recessive

35
Q

what is type 4 osteogenesis imperfecta?

A

mildest type – bones fracture easier than normal
short stature

36
Q

another name for camptomelic dysplasia?

A

campomelic dysplasia

37
Q

is campomelic dysplasia lethal?

A

yes

38
Q

how common is campomelic dysplasia?

A

rare

39
Q

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

A

camptomelic dysplasia

40
Q

where can polydactyly be found?

A

lateral or medial side of extremity

41
Q

possible associations with polydactyly?

A
  1. trisomy 13, 18, 21
  2. ellis van-creveld syndrome
  3. rubenstein-taybi syndrome
42
Q

what is holt-oram syndrome?

A

condition with no thumbs

43
Q

2 associations with holt-oram syndrome

A
  1. congenital abnormalities of the heart
  2. phocomelia of upper limbs
44
Q

what is phocomelia?

A

proximal portion of extremities are absent or hypoplastic

45
Q

VACTERL associations are more commonly found in which patient?

A

diabetic mothers

46
Q

what is talipes equinovarus?

A

clubfoot – median deviation of the sole of foot

47
Q

5 possible associations for clubfoot?

A
  1. genetic syndrome (tri 18)
  2. spina bifida
  3. caudal regression syndrome
  4. muscular dystrophy
  5. oligohydramnios
48
Q

what is caudal regression syndrome?

A

a range of malformations of the caudal end of the neural tube, leading to underdeveloped/agenesis of coccyx area

49
Q

single umbilical artery may be associated with caudal regression syndrome. T/F?

A

true

50
Q

what type of twinning may be associated with caudal regression syndrome?

A

monozygotic

51
Q

which drug is associated with caudal regression syndrome?

A

cocaine

52
Q

what is sirenomelia?

A

variable fusion of lower extremities, leading to the mermaid sign on US

53
Q

3 associations with sirenomelia?

A
  1. bilateral renal agenesis
  2. oligohydramnios
  3. SUA

DMS 400 OB/GYN (21 decks)

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