Karteikarten
Development
Karten in diesem Stapel (13)
- 1Lissencephaly with Agenesis of the Corpus CallosumX-Linked
mtn in ARX gene on Xp22.13
with abnormal genitalia (XLAG)
epilepsy
hypothalamic dysfxn
ambiguous genitalia - 2Lissencephaly with CereBeLLAR HyPOplasiamtn in RELN gene at 7q22 which codes for reelin
- 3Cobblestone Lissencephalycortex lacks layerss
Neurons migrate too far into the brain surface at meninges
Syndromic Congenital Muscular Dystrophy are associated with eye dz, cobblestone,muscle weakness. - 4Fukuyama CMDFound mainly in Japan
mtn gene on 9q encodes for fukutin causing Fukuyama CMD - 5Muscle Eye Brain DiseaseFound mainly in Finland (Europe)
defect in POMGnT1 on 1p - 6Walker Warburg Syndromemtn in POMT1 on 9q
- 7PolymicrogyriaDisorder of Neuronal Migration
increased number of Gyri, small gyri
MC Location: Sylvian fissure
multiple causes like infection - 8HeterotopiaHeterotopic Neurons migrate abnormally
may be part of Syndrome
can cause seizures
Subcortical band heterotopia
"women wear headBands and boys like LISa" - 9Perventricular Nodular HeterotopiaMtn in FIL1 on Xq encodes for filamin-1
most cases found in females
lethal in males
"fil-1 fills in the ventricles" - 10Miller Diekermtn LIS1 which codes for PAFAH1B1.
This deletion also includes gene 14-3-3 gene - 11PHACES SyndromesPosterior Fossa malformations
Hemangiomas
Arterial anomaly
Coarctation of Aorta
Eye abnormalities
Sternal Clefting
SuPRaumbilical raphe
Examples: Dandy-Walker - 12MASA SyndromeMental Retardation
Aphasia
Shuffling gait
Adducted thumbs
Due to mtn in L1CAM gene - 13CRASH SyndromesX-L-Recessive
MASA Syndrome
corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalusc
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- Development Karteikarten am Development, erstellt von Betty Kamar am 31/07/2016.
- Erstellt von
- Betty Kamar
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