Anomalies of the Fetal Skull and Face

Question 1

acrania aka ____

Answer 1

exencephaly

Question 2

___: lack of cranial bone formation

Answer 2

acrania

Question 3

acrania can be identifies as early as ___ weeks

Answer 3

12 weeks

Question 4

___: absence of upper cranial vault and cerebral tissue

Answer 4

anencephaly

Question 5

anencephaly is usually seen with other spine defects and ____

Answer 5

polyhydramnios

Question 6

neural tube ducts usually have an increased in what lab

Answer 6

AFP

Question 7

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

Answer 7

encephalocle

Question 8

moat encephalocele are usually located where

Answer 8

posterior ot occipital location

Question 9

encephaloceles ave what kind of prognosis

Answer 9

poop

Question 10

encephaloceles can be apart of what two things

Answer 10

meckel Gruber syndrome or penology of Cantrell

Question 11

what three things make up meckle Gruber syndrome

Answer 11

• MCDK
• polydactyly
• encephalocele

Question 12

S/A encephalocele

Answer 12

-complex cystic mass connected to cranium

Question 13

___: herniation of meninges only through opening in the skull

Answer 13

meningocele

Question 14

S/A meningocele

Answer 14

cystic structure usually seen on posterior aspect of the skull

Question 15

teratoma is usually composed of what kind of tissue

Answer 15

ectodermal

Question 16

___: collection of lymphatic fluid due to obstruction

Answer 16

cystic hygroma

Question 17

cystic hygromas usually occur where

Answer 17

back of neck

Question 18

cystic hygromas are strongly associated with what

Answer 18

chromosomal abnormalities

Question 19

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

Answer 19

trisomy 21

Question 20

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

Answer 20

Turner syndrome

Question 21

cystic hygromas are associated with what other things

Answer 21

• polyhydramnios
• hydrops
• pleural effusion
• ascites
• anasarca

Question 22

S/A cystic hygroma

Answer 22

• thin walled complex mass with septations

- usually on posterior neck

Question 23

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

Answer 23

craniosynostosis

Question 24

___: anterior neck mass

Answer 24

fetal goiter

Question 25

S/A fetal goiter

Answer 25

homogeneous central neck mass with well defined borders

Question 26

___: increase in size of fetal head

Answer 26

macrocephaly

Question 27

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

Answer 27

98th

Question 28

macrocephaly is associated with what

Answer 28

- hydrocephalus - hydranencephaly - beckwith Wiedemann syndrome

Question 29

___: small head for gestational age

Answer 29

microcephaly

Question 30

microcephaly is associated with what

Answer 30

- porencephaly - lissencephaly - holoprosencephaly

Question 31

microcephaly is seen with what

Answer 31

- trisomy 13 and 18 | - meckel gruber syndrome

Question 32

___: small ossification centers within the cranial sutures

Answer 32

wormian bones

Question 33

Wormian bones can be associated with what other disorders

Answer 33

- trisomy 21 - cleidocranial dysplasia - osteogenesis imperfecta

Question 34

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

Answer 34

craniosynostosis

Question 35

what sonographic sign can be seen with craniosynostosis

Answer 35

clover leaf or strawberry

Question 36

___: shortened orbital frontal diameter

Answer 36

brachycephaly

Question 37

what kind of head shape is associated with brachycephaly

Answer 37

round

Question 38

brachycephaly is associated with what things

Answer 38

- trisomy 21 - trisomy 18 - craniosynotosis

Question 39

___: elongated oribital frontal diameter

Answer 39

dolichocephaly

Question 40

what kind of head shape is seen with dolichocephaly

Answer 40

long narrow head

Question 41

dolichocephaly is associated with what things

Answer 41

- craniosynostosis - breech presentation - oligohydramnios

Question 42

a lemon shaped head is seen with what abnormality

Answer 42

chiari 2

Question 43

a strawberry shaped head is seen with what abnormality

Answer 43

trisomy 18

Question 44

a cloverleaf shaped head is seen with what abnormality

Answer 44

thanatrophoric dysplasia

Question 45

what is the most common facial defect

Answer 45

cleft lip or palate

Question 46

is cleft lip/palate more common in males or females

Answer 46

males

Question 47

median or midline cleft lip is often associated with what

Answer 47

other midline defect

Question 48

asymmetric facial clefts can be associated with what

Answer 48

amniotic band syndrome

Question 49

cleft lip/palate are best evaluated after ___ weeks

Answer 49

20 weeks

Question 50

are cleft anomalies associated with oligo or polyhydramnios

Answer 50

poly

Question 51

isolated cleft palate is common associated with what

Answer 51

Pierre robin sequence

Question 52

___: undersized jaw

Answer 52

micrognathia

Question 53

is micrognathia commonly associated with oligo or polyhydramnios

Answer 53

poly

Question 54

___: posteriorly displaces jaw

Answer 54

retrognathia

Question 55

___: complete or partial absence of the jaw

Answer 55

Agnatha

Question 56

___:usually enlarged tongue that extends beyond the teeth or

Answer 56

macroglossia

Question 57

is macroglossia usually associated with olly or polyhydramnios

Answer 57

poly

Question 58

macroglossia is seen with what

Answer 58

- beckwith Wiedemann sybdrome - trisomy 21 - triploidy

Question 59

absence of nasal bone is associated with what trisomy

Answer 59

21

Question 60

___: prominent forehead with absent/hypoplastic nasal bone

Answer 60

frontal bossing

Question 61

frontal bossing is seen with which trisomy

Answer 61

21

Question 62

___: increased distance between the eyes

Answer 62

hypertelorism

Question 63

hypoteleorism is associated with what

Answer 63

- anterior cephalocele - craniosynostosis - trisomy 21 - meningocephaloccele - noonan syndrome - trisomy 13 - turner syndrome

Question 64

___:decreased distance between eyes

Answer 64

hypotelorism

Question 65

hypotelorism is most commonly seen with what

Answer 65

holoprosencephaly and median cleft face

Question 66

___: hypotelorism and a nose with a single nostril

Answer 66

cebocephaly

Question 67

___: hypotelorism with no nose only a proboscis is present

Answer 67

ethmocephaly

Question 68

both cebocephaly and ethmocephaly are seen with what anomaly

Answer 68

holoprosencephaly

Question 69

___: formation of a single ocular cavity

Answer 69

dystopia

Question 70

___: small eyes

Answer 70

microphthalmia

Question 71

___: absence of the eyes

Answer 71

anophthalmia

Question 72

S/A fetal cataracts

Answer 72

echogenic lines with central clouding of complete opacity

Question 73

___: soft tissue mass protruding from anterior/ superior face

Answer 73

proboscis

Question 74

___: small ear

Answer 74

microtia

Question 75

___: absence of the external ear

Answer 75

anotia

Question 76

small ears are associated with what trisomy

Answer 76

21