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Registry Review OB/GYN > Anomalies of the Fetal Skull and Face > Flashcards

Anomalies of the Fetal Skull and Face Flashcards

1
Q

acrania aka ____

A

exencephaly

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2
Q

___: lack of cranial bone formation

A

acrania

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3
Q

acrania can be identifies as early as ___ weeks

A

12 weeks

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4
Q

___: absence of upper cranial vault and cerebral tissue

A

anencephaly

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5
Q

anencephaly is usually seen with other spine defects and ____

A

polyhydramnios

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6
Q

neural tube ducts usually have an increased in what lab

A

AFP

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7
Q

___: meninges and brain tissue herniation through bony defect in the calvarium

A

encephalocle

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8
Q

moat encephalocele are usually located where

A

posterior ot occipital location

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9
Q

encephaloceles ave what kind of prognosis

A

poop

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10
Q

encephaloceles can be apart of what two things

A

meckel Gruber syndrome or penology of Cantrell

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11
Q

what three things make up meckle Gruber syndrome

A
  • MCDK
  • polydactyly
  • encephalocele
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12
Q

S/A encephalocele

A

-complex cystic mass connected to cranium

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13
Q

___: herniation of meninges only through opening in the skull

A

meningocele

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14
Q

S/A meningocele

A

cystic structure usually seen on posterior aspect of the skull

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15
Q

teratoma is usually composed of what kind of tissue

A

ectodermal

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16
Q

___: collection of lymphatic fluid due to obstruction

A

cystic hygroma

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17
Q

cystic hygromas usually occur where

A

back of neck

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18
Q

cystic hygromas are strongly associated with what

A

chromosomal abnormalities

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19
Q

a cystic hygroma seen in the 1st trimester usually indicated ___

A

trisomy 21

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20
Q

a cystic hygroma seen in the 2nd trimester usually indicates ___

A

Turner syndrome

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21
Q

cystic hygromas are associated with what other things

A
  • polyhydramnios
  • hydrops
  • pleural effusion
  • ascites
  • anasarca
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22
Q

S/A cystic hygroma

A
  • thin walled complex mass with septations

- usually on posterior neck

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23
Q

___: premature ossification of one or more skill sutures causing abnormally shaped calvarium and abnormal facial features

A

craniosynostosis

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24
Q

___: anterior neck mass

A

fetal goiter

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25
Q

S/A fetal goiter

A

homogeneous central neck mass with well defined borders

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26
Q

___: increase in size of fetal head

A

macrocephaly

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27
Q

macrocephaly is defined when the head circumference is greater than what percentile

A

98th

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28
Q

macrocephaly is associated with what

A
  • hydrocephalus
  • hydranencephaly
  • beckwith Wiedemann syndrome
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29
Q

___: small head for gestational age

A

microcephaly

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30
Q

microcephaly is associated with what

A
  • porencephaly
  • lissencephaly
  • holoprosencephaly
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31
Q

microcephaly is seen with what

A
  • trisomy 13 and 18

- meckel gruber syndrome

32
Q

___: small ossification centers within the cranial sutures

A

wormian bones

33
Q

Wormian bones can be associated with what other disorders

A
  • trisomy 21
  • cleidocranial dysplasia
  • osteogenesis imperfecta
34
Q

___: premature ossification of one or more skull sutures causing abnormally shaped calvarium and abnormal facial features

A

craniosynostosis

35
Q

what sonographic sign can be seen with craniosynostosis

A

clover leaf or strawberry

36
Q

___: shortened orbital frontal diameter

A

brachycephaly

37
Q

what kind of head shape is associated with brachycephaly

A

round

38
Q

brachycephaly is associated with what things

A
  • trisomy 21
  • trisomy 18
  • craniosynotosis
39
Q

___: elongated oribital frontal diameter

A

dolichocephaly

40
Q

what kind of head shape is seen with dolichocephaly

A

long narrow head

41
Q

dolichocephaly is associated with what things

A
  • craniosynostosis
  • breech presentation
  • oligohydramnios
42
Q

a lemon shaped head is seen with what abnormality

A

chiari 2

43
Q

a strawberry shaped head is seen with what abnormality

A

trisomy 18

44
Q

a cloverleaf shaped head is seen with what abnormality

A

thanatrophoric dysplasia

45
Q

what is the most common facial defect

A

cleft lip or palate

46
Q

is cleft lip/palate more common in males or females

A

males

47
Q

median or midline cleft lip is often associated with what

A

other midline defect

48
Q

asymmetric facial clefts can be associated with what

A

amniotic band syndrome

49
Q

cleft lip/palate are best evaluated after ___ weeks

A

20 weeks

50
Q

are cleft anomalies associated with oligo or polyhydramnios

A

poly

51
Q

isolated cleft palate is common associated with what

A

Pierre robin sequence

52
Q

___: undersized jaw

A

micrognathia

53
Q

is micrognathia commonly associated with oligo or polyhydramnios

A

poly

54
Q

___: posteriorly displaces jaw

A

retrognathia

55
Q

___: complete or partial absence of the jaw

A

Agnatha

56
Q

___:usually enlarged tongue that extends beyond the teeth or

A

macroglossia

57
Q

is macroglossia usually associated with olly or polyhydramnios

A

poly

58
Q

macroglossia is seen with what

A
  • beckwith Wiedemann sybdrome
  • trisomy 21
  • triploidy
59
Q

absence of nasal bone is associated with what trisomy

A

21

60
Q

___: prominent forehead with absent/hypoplastic nasal bone

A

frontal bossing

61
Q

frontal bossing is seen with which trisomy

A

21

62
Q

___: increased distance between the eyes

A

hypertelorism

63
Q

hypoteleorism is associated with what

A
  • anterior cephalocele
  • craniosynostosis
  • trisomy 21
  • meningocephaloccele
  • noonan syndrome
  • trisomy 13
  • turner syndrome
64
Q

___:decreased distance between eyes

A

hypotelorism

65
Q

hypotelorism is most commonly seen with what

A

holoprosencephaly and median cleft face

66
Q

___: hypotelorism and a nose with a single nostril

A

cebocephaly

67
Q

___: hypotelorism with no nose only a proboscis is present

A

ethmocephaly

68
Q

both cebocephaly and ethmocephaly are seen with what anomaly

A

holoprosencephaly

69
Q

___: formation of a single ocular cavity

A

dystopia

70
Q

___: small eyes

A

microphthalmia

71
Q

___: absence of the eyes

A

anophthalmia

72
Q

S/A fetal cataracts

A

echogenic lines with central clouding of complete opacity

73
Q

___: soft tissue mass protruding from anterior/ superior face

A

proboscis

74
Q

___: small ear

A

microtia

75
Q

___: absence of the external ear

A

anotia

76
Q

small ears are associated with what trisomy

A

21

Registry Review OB/GYN (31 decks)

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