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Thick cerebral cortex

MedGen UID:
870522
Concept ID:
C4024970
Anatomical Abnormality
HPO: HP:0006891

Conditions with this feature

Norman-Roberts syndrome
MedGen UID:
163213
Concept ID:
C0796089
Disease or Syndrome
Lissencephaly ('smooth brain') is a severe disorder of brain development in which neuronal migration is impaired, leading to a thickened cerebral cortex in which the normally folded contour is simplified and smooth. Lissencephaly-2 (LIS2) is associated with severe abnormalities of the cerebellum and hippocampus (summary by Hong et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Cortical dysplasia, complex, with other brain malformations 10
MedGen UID:
1684859
Concept ID:
C5231458
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).

Professional guidelines

PubMed

Fan F, Huang J, Tan S, Wang Z, Li Y, Chen S, Li H, Hare S, Du X, Yang F, Tian B, Kochunov P, Tan Y, Hong LE
Psychiatry Clin Neurosci 2023 Jan;77(1):12-19. Epub 2022 Oct 31 doi: 10.1111/pcn.13486. PMID: 36184782Free PMC Article
Rodríguez-Ramírez AM, Cedillo-Ríos V, Becerra-Palars C, Meza-Urzúa F, Jiménez-Pavón J, Morales-Cedillo P, López-Titla MM, Sánchez-Segura CL, Martínez-Gudiño ML, Ortega-Ortiz H, Camarena-Medellin B
Psychiatry Res Neuroimaging 2021 Nov 30;317:111382. Epub 2021 Aug 30 doi: 10.1016/j.pscychresns.2021.111382. PMID: 34482053
Finegan E, Li Hi Shing S, Siah WF, Chipika RH, Chang KM, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P
J Neurol Sci 2020 Oct 15;417:117052. Epub 2020 Jul 24 doi: 10.1016/j.jns.2020.117052. PMID: 32731060

Recent clinical studies

Diagnosis

Marchal G, Andermann F, Tampieri D, Robitaille Y, Melanson D, Sinclair B, Olivier A, Silver K, Langevin P
Arch Neurol 1989 Apr;46(4):430-4. doi: 10.1001/archneur.1989.00520400090025. PMID: 2495785

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