Cobblestone Lissencephaly
"Cobblestone Lissencephaly" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D054222
|
| MeSH Number(s) |
C10.500.507.450.249 C10.500.507.450.499.249 C16.131.666.507.450.249 C16.131.666.507.450.499.249
|
| Concept/Terms |
Cobblestone Lissencephaly- Cobblestone Lissencephaly
- Cobblestone Lissencephalies
- Lissencephalies, Cobblestone
- Lissencephaly, Cobblestone
- Lissencephaly Type 2
- Cobblestone Dysplasia
- Cobblestone Dysplasias
- Dysplasia, Cobblestone
- Dysplasias, Cobblestone
|
Below are MeSH descriptors whose meaning is more general than "Cobblestone Lissencephaly".
Below are MeSH descriptors whose meaning is more specific than "Cobblestone Lissencephaly".
This graph shows the total number of publications written about "Cobblestone Lissencephaly" by people in this website by year, and whether "Cobblestone Lissencephaly" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 0 | 1 | 1 |
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Below are the most recent publications written about "Cobblestone Lissencephaly" by people in Profiles.
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008 Nov; 29(11):E231-41.