Developmental Disorders Flashcards
associations of Arnold Chiari Type 1
syringomyelia
Associations of Arnold Chiari Type 2
hydrocephalus
spina bifida
hydromyelia
acqueductal stenosis
Most common posterior fossa malformation
Dandy Walker
what causes Dandy Walker
foramina Luschka and Magndi fail to open
4th ventricle fails to close
holoprosencephaly
polydactyly
microphthalmia
punched out scalp lesions
cleft palate
rocker bottom feet
Trisomy 13
Patau Syndrome
clenched fists
low set ears
prominent occiput
migrognathia
cleft palate
rocker bottom feet
Trisomy 18
Edwards Syndrome
Which trisomy (aside from Dows) has the longest life expectancy
Trisomy 18
What is anencephaly
failure of the rostral neuropore to close, causing diminished or absent cranium, forebrain and cerebellum
What is encephalocele
protrusion of brain tissue via skull opening
What is holoprosencephaly
incomplete separation of cerebral hemispheres across the midline, due to mutation of SHH gene
associations of holoprosencephaly
cyclopia
cleft lip/ palate
trisomy 13
fetal alcohol syndrome
