Malformations Flashcards

1
Q

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

A

Spina bifida occulta

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2
Q

NTD defect in dura mater of spinal cord

A

Spina bifida cystica

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3
Q

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

A

Meningocele

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4
Q

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

A

Myelomeningocele

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5
Q

Total or partial absence of skull and brain associated with polyhydramnios

A

Anencephaly

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6
Q

Protrusion of brain tissue via an opening in the skull

A

Encephalocele

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7
Q

Birth defect associated with maternal reduced MTHFR activity

A

NTD

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8
Q

Chromosomal aberrations associated with NTDs

A

Trisomy 13
Trisomy 18

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9
Q

Maternal conditions associated with NTD

A

DM
Obesity
Hyperthermia in first trimester

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10
Q

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

A

Trisomy 21

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11
Q

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

A

Trisomy 18 (Edward)

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12
Q

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

A

NTD or abdominal wall defect

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13
Q

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

A

Holoprosencephaly

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14
Q

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

A

Holoprosencephaly

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15
Q

Genetic abnormality associated with holoprosencephaly

A

Trisomy 13

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16
Q

Collections of neurons in inappropriate locations along the pathway of migration

A

Neuronal heterotopias

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17
Q

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

A

Polymicrogyria

18
Q

Smooth brain, reduced or absent gyri

A

Lessencephaly

19
Q

Caudal displacement of cerebellar tonsils that is associated with syringomyelia

A

Arnold-Chiari type 1

20
Q

Enlarged central gray area of spinal cord on adjacent neurons

A

Syringomyelia

21
Q

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

A

Arnold-Chiari type 2

22
Q

Other conditions associated with Arnold-Chiari type 2

A

Hydrocephalus
Lumbosacral myelomeningocele
Possibly aqueduct stenosis

23
Q

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

A

Dandy-Walker malformation

24
Q

Gene mutations associated with Dandy-Walker malformation

A

Trisomy 18 (often)
Trisomy 13
Trisomy 21

25
Q

Mechanism of FAS

A

Failure of cell migration

26
Q

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

A

Fetal alcohol syndrome

27
Q

Most severe form of FAS

A

Holoprosencephaly

28
Q

Grade 1 germinal matrix hemorrhage

A

Limited to germinal matrix, mainly overlying the caudal nucleus

29
Q

Grade 2 germinal hemorrhage

A

Large hemorrhage rupture into ventricle (IVH)

30
Q

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

A

Germinal matrix hemorrhage

31
Q

Grade 3 germinal matrix hemorrhage

A

IVH associated with hydrocephalus, communicating or non-communicating

32
Q

Grade 4 germinal matrix hemorrhage

A

Intraventricular rupture and extension of hemorrhage into the periventricular white matter

33
Q

Most important cause of periventricular leukomalacia

A

Ischemia

34
Q

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

A

Periventricular leukomalacia

35
Q

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

A

Periventricular leukomalacia

36
Q

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

A

Cerebral palsy

37
Q

Spastic cerebral palsy

A

UMN lesions
Hypertonia –> scissor gait

38
Q

Dyskinetic/athetoid cerebral palsy

A

Damage to basal ganglia
Dystonia
Chorea

39
Q

Ataxic cerebral palsy

A

Damage to cerebellum
Shaky and uncontrolled movements

40
Q

Dysphagia and dysarthria in cerebral palsy

A

Pseudobulbar involvement