N2 - Developmental Disorders (Mitchell) Flashcards Preview

4.1 > N2 - Developmental Disorders (Mitchell) > Flashcards

Flashcards in N2 - Developmental Disorders (Mitchell) Deck (51):
1

Failure of fusion between symmetric halves

Dysraphism

2

Least severe form of dysraphism

Closed NTDs (Spina bifida occulta)

2

Encephalocele associated with ______

Chiari III malformation

2

Wnt & Bmp4

surface ectoderm

2

Early coronal closure

Tall skull

Flat frontal and occipital

Bracycephaly

3

Cerebellum protrudes inferior to forament magnum

Chiari II malformation

4

Sensory and motor deficits distal to the lesion

Spina bifida cystica

4

Early coronal closure on one side

Plagiocephaly

5

Cloverleaf skull

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

Thanatophoric dwarfism type II

6

Responsible for bifid appearance in spina bifida

Failure of pedicles to grow and form vertebral arch

6

Gives rise to axial skeleton

Sclerotome

7

Entire neural plate fails to fold and remains as plate

Craniorachischisis

8

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

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

10

Detects most NTDs during screening

US and maternal serum alpha fetoprotein (MSAFP)

10

Herniation of subarachnoid space outside dura mater

Meningocele

12

Moles, angioma, lipoma, dimples, abnormal hair growth

Spina bifida occulta

12

Risk factor to microcephaly

Alcohol

13

Brainstem & portion of spinal cord pulled into encephalocele

Chiari III malformation

13

Meninges closed

Neural plate folded up properly

Calvaria fails to develop and close

Ancephaly without craniorachischisis

14

Cone growth of skull

Early coronal suture fusion

Apert syndrome

15

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

Sloughed off brain tissue

17

Most common location of spina bifida occulta

S1/S2

19

Failure of caudal and rostral neural portions to zip up

Myelomeningocele

20

Superior & inferior colliculi lumped together

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