Malformation And Developmental Disease

Front 1

Anencephaly

Back 1

failure of cranial neural tube closure
with resultant brain dysgenesis
multifactorial inheritance
folate responsive
amniotic band disruption can cause phenocopy

Front 2

Meningomyelocoele
(spina bifida)

Back 2

failure of neural tube closure with folate responsiveness
uncommon genetic or chromosomal associations

Front 3

encephalocele

Back 3

herniation of intracranial contents through a skin covered neural tube defect
most cases are multifactorial but there is a higher incidence of chromosomal and genetic syndromes then other neural tube closure d/o. Not folate responsive

Front 4

Occult dysraphic states

Back 4

secondary neurulation became disordered
abn deco of lower sacral and coccygeal segments
lumbosacral cutaneous findings are usually present
hair, dimples, tracts, masses etc

Front 5

Holoprosecephaly

Back 5

spectrum of severe early abn in forebrain cleavage
occur sagittally resulting in fusion of c. hemi's
horizontally -> optic olfactory bulbs
trisomy 13, SHH etc

Front 6

agenesis of corpus callosum

Back 6

failure or deficiency or corpus callosal axons to cross midline
asx if isolated but may occur w/ hydroceph, migration abn, etc

Front 7

septo-optic dysplasia

Back 7

absence of septum pellucid
underdevo of optic nerves
congenital visual impairment
hypothalamic/endocrine dysfunction

Front 8

Porecephaly

Back 8

cystic cavities in brain
result of transient fetal hypotension, stroke-like episode or infection

Front 9

hydranencephaly

Back 9

essentially total infarction of feta cerebral hemispheres due to transient fetal hypotension, stroke like episodes or infection

Front 10

schizencephaly

Back 10

split brain
cleft b/w frontal and temporal lobes
result of brain disruption or early arrest in devo

Front 11

Lissencephaly

Back 11

smooth brain - absence of nml gyral pattern
freq part of genetic syndrome
essentially an arrest of brain development at an immature level

Front 12

Lissencephaly type 1
Miller-Dieker syndrome

Back 12

contiguous gene deletion syndrome of chromosome 17p13.3 (including LIS1 gene)

Front 13

Lissencephaly type 2
Walker-Warburg syndrome

Back 13

pachygryia and schizencephaly
9q31 - mapped there

Front 14

Poymicrogyria

Back 14

gyro too small and too many
assoc w/ Zellweger syndrome

Front 15

Chiari malformation

Back 15

1. inf. displacement of the medulla + 4th V into upper cervical canal
2. Elongation+thinning of upper medulla and lower pons and persistence of embryonic flex
3. inf. displacement of lower cerebellum through FM
4. bony defects
often associated with hydrocephalus

Front 16

Dandy-Walker syndrome

Back 16

1. cystic dilation of 4th V
2. Complete or partial a genesis of cerebellar vermis
3. Hydrocephalus

Front 17

Dolichocephaly/scaphocephaly

Back 17

long boat shaped head

Front 18

Brachycephaly

Back 18

short w/ flat back of head

Front 19

Acrocephaly or oxycephaly

Back 19

tall pointed head

Front 20

plagiocephaly

Back 20

misshapen head