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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

A

S1/S2

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
Q

Precursor to anencephaly

A

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
Q

Most common congenital anomaly of forebrain

A

Holoprosencephaly

23
Q

Cleft lip and palate associated with

A

Encephalocele

  • herniation into oral cavity
25
Q

Neural tube defects are a form of

A

dysraphism

26
Q

Mutation involved in craniosynostosis

A

FGF

27
Q

Early sagittal suture closure

Long narrow skull

A

Scaphocephaly

29
Q

Primitive neural tissue doesnt differentiate

Still connected to skin

A

Rachischisis

29
Q

Premature closure of sutures

Rapid growth at other areas

A

Craniosynostosis

31
Q

Neural tube zipped up, but skin failed to zip up

A

spina bifida aperta

32
Q

CSF trapped in lateral & 3rd ventricles

A

Chiari II malformation

  • blockage of Aqueduct of Sylvius due to pulled cerebellum down inferior to foramen magnum
33
Q

Imaging study of choice to detect lethal skeletal dysplasias

A

Ultrasound

34
Q

FGFR3 mutation

A

Thanatophoric dwarfism Type II

  • lethal
36
Q

most severe form of spina bifida compatible with life

A

Spina bifida cystica

36
Q

Portion of spinal cord fused to skin or vertebral column

A

Tethered cord syndrorme

38
Q

Shh

A

Notocord signaling

40
Q

Single, central incisor

Cyclopia

Unpaired cerebral hemisphere

A

Holoprosencephaly

41
Q

Failure of proliferation and thus development of features along the midline

A

Holoprosencephaly

42
Q

Myelomingoceles often associated with ______

A

Chiari II malformations

43
Q

Herniation of ventricle, brain tissue, and arachnoid mater outside dura mater

A

Meningohydroencephalocele

44
Q

Incomplete fusion of skin with or without a cyst

A

Spina bifida aperta

  • no cyst
  • meninges remain within vertebral column
45
Q

Structures generally absent in anencephaly without craniorachischisis

A

Cerebral cortex & thalamic structures

46
Q

meningocele of cranium

A

herniation of arachnoid matter (subarachnoid space)

47
Q

Herniation of arachonid mater and brain tissue otuside dura mater

A

Meningoencephalocele

48
Q

97% of patients have fecal and urinary incontinence

A

Spina bifida cystica

49
Q

FGF8

A

Paraxial mesoderm

  • neural crest cell maturation
50
Q

Median hinge point

A

Notochord signaling

51
Q

Induces neural crest cell maturation

And formation of roof plate

A

Surface ectroderm

4.1 (14 decks)

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