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COBBLESTONE LISSENCEPHALY
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DeCS
Descriptor
English
:
Cobblestone Lissencephaly
Descriptor
Spanish
:
Lisencefalia de Cobblestone
Descriptor
Portuguese
:
Lissencefalia Cobblestone
Synonyms
English
:
Cobblestone Complex
Cobblestone Dysplasia
Lissencephaly Type 2
Tree Number:
C10.500.507.249.249
C10.500.507.750.249
C16.131.666.507.186.249
C16.131.666.507.812.249
Definition
English
:
The smooth pebbled appearance of the
CEREBRAL CORTEX
with a thickened cortex and reduced and abnormal white matter, which results from
migration
of heterotopic
neurons
beyond the marginal zone into the leptomeninges through gaps in the external
BASEMENT MEMBRANE
. There is also enlarged ventricles, underdeveloped BRAINSTEM and
cerebellum
, and absence of the
CORPUS CALLOSUM
. These abnormalities occur as a
syndrome
without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the
eye
, such as the
Walker-Warburg Syndrome
, Fukuyama congenital muscular dystrophy, and muscle-eye-brain
disease.
History Note
English
:
2008
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
52596
Unique Identifier:
D054222
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS