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4.1 > N2 - Developmental Disorders (Mitchell) > Flashcards

N2 - Developmental Disorders (Mitchell) Flashcards

1
Q

Failure of fusion between symmetric halves

A

Dysraphism

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2
Q

Least severe form of dysraphism

A

Closed NTDs (Spina bifida occulta)

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2
Q

Encephalocele associated with ______

A

Chiari III malformation

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2
Q

Wnt & Bmp4

A

surface ectoderm

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2
Q

Early coronal closure

Tall skull

Flat frontal and occipital

A

Bracycephaly

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3
Q

Cerebellum protrudes inferior to forament magnum

A

Chiari II malformation

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4
Q

Sensory and motor deficits distal to the lesion

A

Spina bifida cystica

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4
Q

Early coronal closure on one side

A

Plagiocephaly

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5
Q

Cloverleaf skull

synostosis of skull base, sagitall, coronal, and lambdoidal sutures

A

Thanatophoric dwarfism type II

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6
Q

Responsible for bifid appearance in spina bifida

A

Failure of pedicles to grow and form vertebral arch

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6
Q

Gives rise to axial skeleton

A

Sclerotome

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7
Q

Entire neural plate fails to fold and remains as plate

A

Craniorachischisis

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8
Q

How do we control ventricular pressure when sutures and fontanelles fail to fuse?

A

1/8th inch shunt from lateral ventrical to peritoneal cavity

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10
Q

Detects most NTDs during screening

A

US and maternal serum alpha fetoprotein (MSAFP)

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10
Q

Herniation of subarachnoid space outside dura mater

A

Meningocele

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12
Q

Moles, angioma, lipoma, dimples, abnormal hair growth

A

Spina bifida occulta

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12
Q

Risk factor to microcephaly

A

Alcohol

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13
Q

Brainstem & portion of spinal cord pulled into encephalocele

A

Chiari III malformation

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13
Q

Meninges closed

Neural plate folded up properly

Calvaria fails to develop and close

A

Ancephaly without craniorachischisis

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14
Q

Cone growth of skull

Early coronal suture fusion

A

Apert syndrome

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15
Q

In an ultrasound of a fetus with anencephaly, why does the amniotic fluid appear abnormally echogenic?

A

Sloughed off brain tissue

17
Q

Most common location of spina bifida occulta

19
Q

Failure of caudal and rostral neural portions to zip up

A

Myelomeningocele

20
Q

Superior & inferior colliculi lumped together

A

Chiari II malformation

21
Precursor to anencephaly
exencephaly - exposed brain tissue to amniotic fluid during 1st trimester - tissue sloughs off b/c it doesn't have microenvironment to grow and develop
21
Most common congenital anomaly of forebrain
Holoprosencephaly
23
Cleft lip and palate associated with
Encephalocele - herniation into oral cavity
25
Neural tube defects are a form of
dysraphism
26
Mutation involved in craniosynostosis
FGF
27
Early sagittal suture closure Long narrow skull
Scaphocephaly
29
Primitive neural tissue doesnt differentiate Still connected to skin
Rachischisis
29
Premature closure of sutures Rapid growth at other areas
Craniosynostosis
31
Neural tube zipped up, but skin failed to zip up
spina bifida aperta
32
CSF trapped in lateral & 3rd ventricles
Chiari II malformation - blockage of Aqueduct of Sylvius due to pulled cerebellum down inferior to foramen magnum
33
Imaging study of choice to detect lethal skeletal dysplasias
Ultrasound
34
FGFR3 mutation
Thanatophoric dwarfism Type II - lethal
36
most severe form of spina bifida compatible with life
Spina bifida cystica
36
Portion of spinal cord fused to skin or vertebral column
Tethered cord syndrorme
38
Shh
Notocord signaling
40
Single, central incisor Cyclopia Unpaired cerebral hemisphere
Holoprosencephaly
41
Failure of proliferation and thus development of features along the midline
Holoprosencephaly
42
Myelomingoceles often associated with \_\_\_\_\_\_
Chiari II malformations
43
Herniation of ventricle, brain tissue, and arachnoid mater outside dura mater
Meningohydroencephalocele
44
Incomplete fusion of skin with or without a cyst
Spina bifida aperta - no cyst - meninges remain within vertebral column
45
Structures generally absent in anencephaly without craniorachischisis
Cerebral cortex & thalamic structures
46
meningocele of cranium
herniation of arachnoid matter (subarachnoid space)
47
Herniation of arachonid mater and brain tissue otuside dura mater
Meningoencephalocele
48
97% of patients have fecal and urinary incontinence
Spina bifida cystica
49
FGF8
Paraxial mesoderm - neural crest cell maturation
50
Median hinge point
Notochord signaling
51
Induces neural crest cell maturation And formation of roof plate
Surface ectroderm

4.1 (14 decks)

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