Anomalies of the Fetal Skull and Face Flashcards
acrania aka ____
exencephaly
___: lack of cranial bone formation
acrania
acrania can be identifies as early as ___ weeks
12 weeks
___: absence of upper cranial vault and cerebral tissue
anencephaly
anencephaly is usually seen with other spine defects and ____
polyhydramnios
neural tube ducts usually have an increased in what lab
AFP
___: meninges and brain tissue herniation through bony defect in the calvarium
encephalocle
moat encephalocele are usually located where
posterior ot occipital location
encephaloceles ave what kind of prognosis
poop
encephaloceles can be apart of what two things
meckel Gruber syndrome or penology of Cantrell
what three things make up meckle Gruber syndrome
- MCDK
- polydactyly
- encephalocele
S/A encephalocele
-complex cystic mass connected to cranium
___: herniation of meninges only through opening in the skull
meningocele
S/A meningocele
cystic structure usually seen on posterior aspect of the skull
teratoma is usually composed of what kind of tissue
ectodermal
___: collection of lymphatic fluid due to obstruction
cystic hygroma
cystic hygromas usually occur where
back of neck
cystic hygromas are strongly associated with what
chromosomal abnormalities
a cystic hygroma seen in the 1st trimester usually indicated ___
trisomy 21
a cystic hygroma seen in the 2nd trimester usually indicates ___
Turner syndrome
cystic hygromas are associated with what other things
- polyhydramnios
- hydrops
- pleural effusion
- ascites
- anasarca
S/A cystic hygroma
- thin walled complex mass with septations
- usually on posterior neck
___: premature ossification of one or more skill sutures causing abnormally shaped calvarium and abnormal facial features
craniosynostosis
___: anterior neck mass
fetal goiter
S/A fetal goiter
homogeneous central neck mass with well defined borders
___: increase in size of fetal head
macrocephaly
macrocephaly is defined when the head circumference is greater than what percentile
98th
macrocephaly is associated with what
- hydrocephalus
- hydranencephaly
- beckwith Wiedemann syndrome
___: small head for gestational age
microcephaly
microcephaly is associated with what
- porencephaly
- lissencephaly
- holoprosencephaly
microcephaly is seen with what
- trisomy 13 and 18
- meckel gruber syndrome
___: small ossification centers within the cranial sutures
wormian bones
Wormian bones can be associated with what other disorders
- trisomy 21
- cleidocranial dysplasia
- osteogenesis imperfecta
___: premature ossification of one or more skull sutures causing abnormally shaped calvarium and abnormal facial features
craniosynostosis
what sonographic sign can be seen with craniosynostosis
clover leaf or strawberry
___: shortened orbital frontal diameter
brachycephaly
what kind of head shape is associated with brachycephaly
round
brachycephaly is associated with what things
- trisomy 21
- trisomy 18
- craniosynotosis
___: elongated oribital frontal diameter
dolichocephaly
what kind of head shape is seen with dolichocephaly
long narrow head
dolichocephaly is associated with what things
- craniosynostosis
- breech presentation
- oligohydramnios
a lemon shaped head is seen with what abnormality
chiari 2
a strawberry shaped head is seen with what abnormality
trisomy 18
a cloverleaf shaped head is seen with what abnormality
thanatrophoric dysplasia
what is the most common facial defect
cleft lip or palate
is cleft lip/palate more common in males or females
males
median or midline cleft lip is often associated with what
other midline defect
asymmetric facial clefts can be associated with what
amniotic band syndrome
cleft lip/palate are best evaluated after ___ weeks
20 weeks
are cleft anomalies associated with oligo or polyhydramnios
poly
isolated cleft palate is common associated with what
Pierre robin sequence
___: undersized jaw
micrognathia
is micrognathia commonly associated with oligo or polyhydramnios
poly
___: posteriorly displaces jaw
retrognathia
___: complete or partial absence of the jaw
Agnatha
___:usually enlarged tongue that extends beyond the teeth or
macroglossia
is macroglossia usually associated with olly or polyhydramnios
poly
macroglossia is seen with what
- beckwith Wiedemann sybdrome
- trisomy 21
- triploidy
absence of nasal bone is associated with what trisomy
21
___: prominent forehead with absent/hypoplastic nasal bone
frontal bossing
frontal bossing is seen with which trisomy
21
___: increased distance between the eyes
hypertelorism
hypoteleorism is associated with what
- anterior cephalocele
- craniosynostosis
- trisomy 21
- meningocephaloccele
- noonan syndrome
- trisomy 13
- turner syndrome
___:decreased distance between eyes
hypotelorism
hypotelorism is most commonly seen with what
holoprosencephaly and median cleft face
___: hypotelorism and a nose with a single nostril
cebocephaly
___: hypotelorism with no nose only a proboscis is present
ethmocephaly
both cebocephaly and ethmocephaly are seen with what anomaly
holoprosencephaly
___: formation of a single ocular cavity
dystopia
___: small eyes
microphthalmia
___: absence of the eyes
anophthalmia
S/A fetal cataracts
echogenic lines with central clouding of complete opacity
___: soft tissue mass protruding from anterior/ superior face
proboscis
___: small ear
microtia
___: absence of the external ear
anotia
small ears are associated with what trisomy
21