MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0502962
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.
Terms: Cobblestone Lissencephaly Preferred Term
Term UI T684603
Date10/24/2006
LexicalTag NON
ThesaurusID NLM (2008); Cobblestone Dysplasia
Term UI T684024
Date10/18/2006
LexicalTag NON
ThesaurusID NLM (2008); Lissencephaly Type 2
Term UI T684025
Date10/18/2006
LexicalTag NON
ThesaurusID NLM (2008)

Cobblestone Lissencephaly MeSH Descriptor Data 2023