Descriptors Found: 1
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Descriptor English:   Cobblestone Lissencephaly 
Descriptor Spanish:   Lisencefalia de Cobblestone 
Descriptor Portuguese:   Lissencefalia Cobblestone 
Synonyms English:   Cobblestone Dysplasias
Cobblestone Lissencephalies
Dysplasia, Cobblestone
Dysplasias, Cobblestone
Lissencephalies, Cobblestone
Lissencephaly, Cobblestone
Cobblestone Complex
Cobblestone Dysplasia
Lissencephaly Type 2  
Tree Number:   C10.500.507.450.249
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   52596 
Unique Identifier:   D054222 

Occurrence in VHL: