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... > Nervous System Diseases > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group II > Lissencephaly > Cobblestone Lissencephaly
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group II > Lissencephaly > Cobblestone Lissencephaly

Preferred term

Cobblestone Lissencephaly  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Narrower concepts

Entry terms

  • Cobblestone Dysplasia
  • Lissencephaly Type 2

Allowable Qualifier(s)

In other languages

  • Lissencéphalie pavimenteuse

    French

  • Cobblestone lissencéphalie
  • Lissencéphalie de type 2
  • Lissencéphalie de type II
  • Syndrome HARD plus ou moins E

URI

http://data.loterre.fr/ark:/67375/JVR-C3QJGG4F-F

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RDF/XML TURTLE JSON-LD Created 7/9/07, last modified 6/30/21