ch 54, 58, and 59

Question 1

Enlargement of the fetal cranium as a result of ventriculomegaly

Answer 1

macrocephaly

Question 2

Most severe form of holoprosencephaly characterized by a single common ventricle and a malformed brain

Answer 2

alobar holoprosencephaly

Question 3

Increase in size of the jugular lymphatic sacs caused by abnormal development

Answer 3

cystic hygroma

Question 4

Neural tube defect of the spine in which the dorsal vertebrae fail to fuse together, allowing the protrusion of meninges and/or spinal cord through the defect

Answer 4

spina bifida

Question 5

Abnormal accumulation of cerebrospinal fluid within the cerebral ventricles leading to dilatation of the ventricle; compression of developing brain tissue and brain damage may result; commonly associated with additional fetal anomalies

Answer 5

ventriculomegaly

Question 6

An abnormality or congenital malformation

Answer 6

anomaly

Question 7

Congenital absence of the cerebral hemispheres caused by occlusion of the carotid arteries, midbrain structures are present, and fluid replaces cerebral tissue

Answer 7

hydranencephaly

Question 8

Open spinal defect characterized by protrusion of meninges and spinal cord through the defect, usually within a meningeal sac

Answer 8

meningomyelocele

Question 9

Ventriculomegaly in the neonate, abnormal accumulation of cerebrospinal fluid within the cerebral ventricles resulting in compression and, frequently, destruction of brain tissue

Answer 9

hydrocephalus

Question 10

Form of holoprosencephaly characterized by a common ventricle, hypotelorism, and a nose with a single nostril

Answer 10

cebocephaly

Question 11

Closed defect of the spine without protrusion of meninges or spinal cord

Answer 11

spina bifida occulta

Question 12

Neural tube defect characterized by lack of development of the cerebral and cerebellar hemispheres and cranial vault; this abnormality is incompatible with life

Answer 12

anencephaly

Question 13

Condition associated with anencephaly in which there is complete or partial absence of the cranial bones

Answer 13

acrania

Question 14

Severe form of holoprosencephaly characterized by a common ventricle, fusion of the orbits with one or two eyes present, and a proboscis

Answer 14

cyclopia

Question 15

Open spinal defect characterized by protrusion of the spinal meninges

Answer 15

meningocele

Question 16

Range of abnormalities resulting from abnormal cleavage of the forebrain

Answer 16

holoprosencephaly

Question 17

Malformation of the lymphatic system that leads to single or multiloculated lymph filled cavities around the neck

Answer 17

fetal cystic hygroma

Question 18

premature closure of cranial sutures

Answer 18

craniosynostoses

Question 19

underdevelopment of the jaw and cheek bone and abnormal ears

Answer 19

treacher collins syndrome

Question 20

head smaller than the body

Answer 20

microcephaly

Question 21

cystic dilatation of the lacrimal sac at the nasocanthal angle

Answer 21

dacryocystocele

Question 22

absent eyes

Answer 22

anophthalmia

Question 23

small chin

Answer 23

micrognathia

Question 24

congenital defect caused by an extra chromosome, which causes a deficiency in the forebrain

Answer 24

holoprosencephaly

Question 25

absence of the nose

Answer 25

arrhinia

Question 26

increased thickness in the nuchal fold area in the back of the neck associalted with trisomy 21

Answer 26

nuchal lucency

Question 27

abnormal protrusion of the eyeball

Answer 27

exophthalmia

Question 28

protrusion of the brain from the cranial cavity

Answer 28

cephalocele

Question 29

enlargement of the thyroid gland

Answer 29

fetal goiter (thyromegaly)

Question 30

hereditary disease caused by failure to oxidize an amino acid (phenylalanine) to tyrosine because of a defective enzyme, can lead to mental retardation

Answer 30

phenylketonuria (PKU)

Question 31

eyes too far apart

Answer 31

hypertelorism

Question 32

underdevelopment of the eyes, fingers, and mouth

Answer 32

oculodentodigital dysplasia

Question 33

eyes too close together

Answer 33

hypotelorism

Question 34

small eyes

Answer 34

microphthalmia

Question 35

Premature closure of the metopic suture

Answer 35

trigonocephaly

Question 36

Micrognathia and abnormal smallness of the tongue, usually with a cleft palate

Answer 36

pierre robin sequence

Question 37

eye disorder in which optic axes cannot be directed to the same object

Answer 37

strabismus

Question 38

abnormal smallness of one side of the face

Answer 38

hemifacial microsomia

Question 39

group of disorders having in common the coexistence of an omphalocele, macroglossia, and visceromegaly

Answer 39

beckwith wiedemann syndrome

Question 40

teratoma located in the oropharynx

Answer 40

epignathus

Question 41

hypertrophied tongue

Answer 41

macroglossia

Question 42

a cylindrical protuberance of the face that in cyclopia or ethmocephaly represents the nose

Answer 42

proboscis

Question 43

underdevelopment of the jaw that causes the ears to be located close together toward the front of the neck

Answer 43

otocephaly

Question 44

cystic defect that arises from the primitive branchial apparatus

Answer 44

branchial cleft cyst

Question 45

solid tumor

Answer 45

teratoma

Question 46

What is the best plane to image cleft lip and pallet?

Answer 46

Modified Coronal View

Question 47

premature closure of any or all six of the cranial sutures and causes fetal cranium to become abnormally shaped .

Answer 47

craniosynostosis

Question 48

Extensive facial screening may be hindered by

Answer 48

Bone Shadowing poor fetal position oligohydramnios maternal obesity

Question 49

what is the optimal gestational age for measuring the NT

Answer 49

11 weeks to 13 weeks, 6 days

Question 50

Most common neck mass

Answer 50

cystic hygroma colli (lymphatic obstruction)

Question 51

% of cystic hygromas associated w/ chromosomal anamalies

Answer 51

50%

Question 52

what does a Proboscis suggest

Answer 52

holoprosencephaly

Question 53

what is the most common malformation of the face

Answer 53

cleft lip (with or without cleft palate)

Question 54

what are the differential considerations for cystic hygroma

Answer 54

``` meningomyelocele encephalocele nuchal edema branchial cleft cyst cystic teratoma hemangioma thyroglossal duct cyst ```

Question 55

small chin

Answer 55

micrognathia

Question 56

What is elongated forehead in sag plane and triangular in axial plane

Answer 56

trigonocephaly

Question 57

Nasal triad is what and what should it include?

Answer 57

nostril symmetry nasal septum integrity continuity of the upper lip to exclude cleft lip and palate.

Question 58

Cleft lip with or w/o pallet seen more in what groups

Answer 58

native americans

Question 59

ear malformations can be found in what

Answer 59

``` treacher collins syndrome goldenhars syndrome hemifacial microsomia roberts syndrome collins syndrome otocephaly ```

Question 60

fetal goider.........

Answer 60

usually appears as a symmetrical (bilobed), solid, homogeneous mass arising from the anterior fetal neck in the region of the thyroid gland. (page 1286)

Question 61

How many facial anomalies occur in how many births

Answer 61

1 in 600 births

Question 62

Which neural tube defect is a result of lack of cerebral hemisphere and vault

Answer 62

anencephaly

Question 63

What central nervous system anomaly shows splaying in the cerebellar hemispheres

Answer 63

Dandy Walker Malformation

Question 64

Complete or absence of cranial bones is what

Answer 64

acrania (AKA exencephaly)

Question 65

Other anomalies associated with anencephaly

Answer 65

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

Question 66

Most severe form of holoprosencephaly

Answer 66

alobar holoprosencephaly

Question 67

Absence of cavum septum pellucidum is a characteristic of what

Answer 67

holoprosencephaly

Question 68

Facial anomalies associated with holoprosencephaly

Answer 68

``` cyclopia hypotelorism absent nose flattened nose with single nostril proboscis cebocephaly ethmocephaly facial clefts ```

Question 69

Characteristics that go with Arnold chiari malformation

Answer 69

associated with spina bifida in which the cerebellum and brain stem are pulled toward the spinal cord and secondary hydrocephalus develops Characterized: 1) Chiari 1 - downward displacement of the cerebellar tonsils, without displacement of the fourth ventricle 2) Chiari 2 - Most common and greatest clinical importance because of it's association with meningomyelocele 3) Chiari 3 - High cervical encephalomeningocele in which the medulla, fourth ventricle, and cerebellum reside

Question 70

What has posterior fossa cyst and splaying of cerebelar hemisphere

Answer 70

Dandy Walker Malformation

Question 71

Absence of cerebral hemispheres resulting in occlusion of carotid arteries

Answer 71

hydranencephaly

Question 72

What measurement is ventriculomegoly

Answer 72

> 10 mm

Question 73

What open spinal defect is characterized by protrusion of meninges and spinal cord through a defect

Answer 73

meningomyelocele

Question 74

Conditions associated with fetal hydrocephalis

Answer 74

occurs when ventriculomegaly is coupled with enlargement of the fetal head aqueductal stenosis arachnoid cysts galen aneurysms

Question 75

Ventriculomegoly with a large head is what

Answer 75

hydrocephalis

Question 76

Most common open neural tube defect

Answer 76

spina bifida

Question 77

Fetal head anomaly characterized by single ventricle

Answer 77

alobar holoprosencephaly

Question 78

Vein of galen

Answer 78

rare arteriovenous malformation vein is enlarged and will communicate with normal appearing arteries sporadic event with male predominance usually isolated anomaly

Question 79

Different forms of holoprosencephaly

Answer 79

alobar, most severe semilobar, intermediate lobar, mildest

Question 80

True or False question about microcephaly

Answer 80

microcephaly is on page 1308

Question 81

Differential considerations for anencephaly

Answer 81

microcephaly acrania cephalocele

Question 82

Herneation of meninges and brain through calvarium defect

Answer 82

encephalomeningocele (form of cephalocele)

Question 83

Differential considerations for dandy walker malformation

Answer 83

arachnoid cyst | cerebellar hypoplasia