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Cobblestone Lissencephaly MeSH Descriptor Data 2023


MeSH Heading
Cobblestone Lissencephaly
Tree Number(s)
C10.500.507.450.499.249
C16.131.666.507.450.249
C16.131.666.507.450.499.249
Unique ID
D054222
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054222
Scope Note
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.
Entry Term(s)
Cobblestone Complex
Cobblestone Dysplasia
Lissencephaly Type 2
Previous Indexing
Cerebral Cortex/abnormalities (1996-2007)
Public MeSH Note
2008
History Note
2008
Date Established
2008/01/01
Date of Entry
2007/07/09
Revision Date
2021/06/30
Cobblestone Lissencephaly Preferred
Cobblestone Complex Narrower
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