Malformations

Question 1

Defect in vertebral arch where spinal cord, meninges, and skin remain intact

Answer 1

Spina bifida occulta

Question 2

NTD defect in dura mater of spinal cord

Answer 2

Spina bifida cystica

Question 3

Spina bifida cystica where meninges are protruded, but nerves are intact

Answer 3

Meningocele

Question 4

Spina bifida cystica where portion of the spinal cord is included in the herniated tissue

Answer 4

Myelomeningocele

Question 5

Total or partial absence of skull and brain associated with polyhydramnios

Answer 5

Anencephaly

Question 6

Protrusion of brain tissue via an opening in the skull

Answer 6

Encephalocele

Question 7

Birth defect associated with maternal reduced MTHFR activity

Answer 7

NTD

Question 8

Chromosomal aberrations associated with NTDs

Answer 8

Trisomy 13
Trisomy 18

Question 9

Maternal conditions associated with NTD

Answer 9

DM
Obesity
Hyperthermia in first trimester

Question 10

Decreased alpha-fetoprotein, increased beta-hCG, decreased estriol (uE3) and increased dimeric inhibin A (DIA)

Answer 10

Trisomy 21

Question 11

Decreased alpha-fetoprotein, beta-hCG, and estriol. Normal or decreased DIA.

Answer 11

Trisomy 18 (Edward)

Question 12

Increased alpha-fetoprotein. Normal beta-hCG, estriol, and DIA.

Answer 12

NTD or abdominal wall defect

Question 13

Defect in brain patterning that results in incomplete separation of cerebral hemispheres with absent olfactory bulbs/tracts

Answer 13

Holoprosencephaly

Question 14

Midline facial cleft, cyclopia, and nasal abnormalities due to defect in SHH

Answer 14

Holoprosencephaly

Question 15

Genetic abnormality associated with holoprosencephaly

Answer 15

Trisomy 13

Question 16

Collections of neurons in inappropriate locations along the pathway of migration

Answer 16

Neuronal heterotopias

Question 17

Numerous, small gyri with excessively folded cortical ribbon with fused mini-gyri

Answer 17

Polymicrogyria

Question 18

Smooth brain, reduced or absent gyri

Answer 18

Lessencephaly

Question 19

Caudal displacement of cerebellar tonsils that is associated with syringomyelia

Answer 19

Arnold-Chiari type 1

Question 20

Enlarged central gray area of spinal cord on adjacent neurons

Answer 20

Syringomyelia

Question 21

Small posterior fossa with descended brainstem and cerebellar tonsils that is symptomatic in neonates

Answer 21

Arnold-Chiari type 2

Question 22

Other conditions associated with Arnold-Chiari type 2

Answer 22

Hydrocephalus
Lumbosacral myelomeningocele
Possibly aqueduct stenosis

Question 23

Failure of foramina of Luschka and Magendie to open, cystic dilatation of 4th ventricle, enlarged posterior fossa, and agenesis of cerebellar vermis

Answer 23

Dandy-Walker malformation

Question 24

Gene mutations associated with Dandy-Walker malformation

Answer 24

Trisomy 18 (often)
Trisomy 13
Trisomy 21

Question 25

Mechanism of FAS

Answer 25

Failure of cell migration

Question 26

Child that presents with growth delay, cognitive delay, and facial anomalies that may be accompanied by congenital heart defects

Answer 26

Fetal alcohol syndrome

Question 27

Most severe form of FAS

Answer 27

Holoprosencephaly

Question 28

Grade 1 germinal matrix hemorrhage

Answer 28

Limited to germinal matrix, mainly overlying the caudal nucleus

Question 29

Grade 2 germinal hemorrhage

Answer 29

Large hemorrhage rupture into ventricle (IVH)

Question 30

Immature fragile capillary bed with poor stromal support that is prone to rupture from hypoxia

Answer 30

Germinal matrix hemorrhage

Question 31

Grade 3 germinal matrix hemorrhage

Answer 31

IVH associated with hydrocephalus, communicating or non-communicating

Question 32

Grade 4 germinal matrix hemorrhage

Answer 32

Intraventricular rupture and extension of hemorrhage into the periventricular white matter

Question 33

Most important cause of periventricular leukomalacia

Answer 33

Ischemia

Question 34

Bilateral damage to white matter during periods of hypotension in premature and perinatal brain, with vascular congestion in the acute stage

Answer 34

Periventricular leukomalacia

Question 35

Chalky-white, cystic cavities around the ventricle from prior ischemic lesions

Answer 35

Periventricular leukomalacia

Question 36

Permanent, non-progressive brain damage that occurs during the prenatal, perinatal, or toddler period (<3 yo)

Answer 36

Cerebral palsy

Question 37

Spastic cerebral palsy

Answer 37

UMN lesions Hypertonia --> scissor gait

Question 38

Dyskinetic/athetoid cerebral palsy

Answer 38

Damage to basal ganglia Dystonia Chorea

Question 39

Ataxic cerebral palsy

Answer 39

Damage to cerebellum Shaky and uncontrolled movements

Question 40

Dysphagia and dysarthria in cerebral palsy

Answer 40

Pseudobulbar involvement