study guide test 1

Question 1

What is the best plane to measure cleft lip and palates?

Answer 1

coronal/axial views

(multiplanar imaging?)

Question 2

Extensive facial screening can be hindered by what?

Answer 2

patient size, lack of fluid, fetal positioning

(difficulty of displaying the secondary palate

attributed to: shadowing from the primary palate, natural downward curvature of the soft palate?)

Question 3

What is craniosynostosis?

Answer 3

the premature closure of any or all six of the cranial sutures

causes the fetal cranium to become abnormally shaped

Question 4

What is a nasal triad and what should it include?

Answer 4

the nasal triad is the view of the nose, lips, and chin

It should include:

nostril symmetry, nasal septum integrity, continuity of the upper lip (to exclude cleft lip and palate)

Question 5

What is the most common neck mass?

Answer 5

Cystic hygroma colli (lymphatic obstruction)

Question 6

What is the percentage of cystic hygromas associated with chromosomal anomalies?

Answer 6

about 50%

Question 7

What is the optimal amount of weeks for an NT measurement?

Answer 7

10-14wks

Question 8

Proboscis is suggestive of what abnormality?

Answer 8

holoprosencephaly

Question 9

What is the most common malformation of the face?

Answer 9

cleft lip with or without cleft palate

(midface hypoplasia?)

Question 10

What are some differential considerations for cystic hygroma?

Answer 10

meningomyelocele, encephalocele, nuchal edema, brachial cleft cyst, cystic teratoma, hemangioma, thyroglossal duct cyst

Question 11

What term describes a small chin?

Answer 11

micrognathia

Question 12

What is an elongated forehead in the longitudinal plane and triangular shaped in the axial plane?

Answer 12

trigonocephaly

Question 13

In what conditions are ear malformations observed?

Answer 13

Goldenhar’s syndrome with anophtalmia (absent eye)

hemifacial microsomia (abnormal smallness of one side of the face)

Robert’s syndrome (small ears)

Nager acrofacial dysostosis syndrome (inadequate development of the ear)

Treacher Collins syndrome

Question 14

Cleft lip with or without palate is most often seen in what groups?

Answer 14

trisomies 13, 18, and 21

triploidy

translocations

Question 15

What is a fetal goiter?

Answer 15

thyromegaly

usually appears as a symmetrical (bilobed), solid, homogenous mass arising from the anterior fetal neck in the region of the fetal thyroid gland

Question 16

How many facial anomalies occur? (1 in how many births)

Answer 16

1 in 600

Question 17

Which neural defect is a lack of cerebal hemisphere and cranial vault?

Answer 17

anencephaly

Question 18

What CNS anomaly demonstrates splaying of cerebellar hemispheres?

Answer 18

Dandy-Walker malformation

Question 19

What condition has complete or partial absence of cranial bones?

Answer 19

acrania

Question 20

What are some other anomalies that may be associated with anencephaly?

Answer 20

cleft lip and palate, hydronephrosis, diaphragmatic hernia, cardiac defects, omphalocele, gastrointestinal defects, and talipes

Question 21

What is the most severe form of holoprosencephaly?

Answer 21

alobar

Question 22

Absence of the cavum septum pellucidi is a distinguishing characteristic of what anomaly?

Answer 22

agenesis of corpus callosum

Question 23

What facial anomalies are associated with holoprosencephally?

Answer 23

cyclopia, hypotelorism, an absent nose, a flattened nose with a single nostril, proboscis, cebocephaly, ethmocephaly, facial clefts (with median or bilateral clefting)

Question 24

What characteristics go along with Arnold-Chiari syndrome?

Answer 24

cerebellum is banana shaped, cisterna magna is destroyed

hydrocephalus is present

scalloping of frontal bones (lemon shaped)

fetuses with myelomengoceles often present with ACS

Question 25

What condition has a posterior fossa cyst and splaying of the cerebellar hemispheres?

Answer 25

Dandy-Walker malformation

Question 26

What is the congenital absence cerebellar cerebral hemispheres resulting from an occlusion of the carotid arteries?

Answer 26

hydraencephaly

Question 27

Ventriculomegaly is defined by what measurement of the ventricles?

Answer 27

when diameter of ventricle exceeds 10mm

Question 28

What open cord spinal defect is characterized by protusion of meninges and spinal cord through the defect?

Answer 28

meningomyelocele

Question 29

What conditions are commonly associated with fetal hydrocephalus?

Answer 29

ventriculomegaly, Dany-Walker malformation, agenesis of the corpus callosum, lissencephaly, schizencephaly, holoprosencephaly

Question 30

Ventriculomegaly with enlargement of the head is called?

Answer 30

Hydrocephalus

Question 31

What is the most common open neural tube defect?

Answer 31

Anencephaly

Question 32

Which fetal head anomaly is characterized by a single primitive ventricle?

Answer 32

Holoprosencephaly

Question 33

What is a Vein of Galen malformation?

Answer 33

aneurysm of the vein of Galen

rare arteriovenous malformation

Question 34

What are the different forms of holoprosencephaly?

Answer 34

alobar-most severe

semilobar-intermediate

lobar-mildest

Question 35

What is microcephaly?

Answer 35

an abnormally small head that falls 2 standard deviations below the mean

Question 36

What are some differential considerations for anencephaly?

Answer 36

microcephaly

acrania

cephalocele

cystic hygroma

Question 37

If we have a herniation of meninges and brain through a calverium defect is called?

Answer 37

meningohydroencephalocele

Question 38

Differential considerations for Dandy-Walker malformation:

Answer 38

arachnoid cyst

cerebellar hypoplasia