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Frontoparietal cortical dysplasia

MedGen UID:
870512
Concept ID:
C4024959
Congenital Abnormality
HPO: HP:0006930

Definition

The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFrontoparietal cortical dysplasia

Conditions with this feature

Complex cortical dysplasia with other brain malformations 7
MedGen UID:
765150
Concept ID:
C3552236
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).

Professional guidelines

PubMed

Guerreiro MM, Andermann F, Andermann E, Palmini A, Hwang P, Hoffman HJ, Otsubo H, Bastos A, Dubeau F, Snipes GJ, Olivier A, Rasmussen T
Neurology 1998 Nov;51(5):1263-9. doi: 10.1212/wnl.51.5.1263. PMID: 9818843

Recent clinical studies

Prognosis

Rochtus AM, Trowbridge S, Goldstein RD, Sheidley BR, Prabhu SP, Haynes R, Kinney HC, Poduri AH
Cold Spring Harb Mol Case Stud 2019 Feb;5(1) Epub 2019 Feb 1 doi: 10.1101/mcs.a003442. PMID: 30709877Free PMC Article

Clinical prediction guides

Rochtus AM, Trowbridge S, Goldstein RD, Sheidley BR, Prabhu SP, Haynes R, Kinney HC, Poduri AH
Cold Spring Harb Mol Case Stud 2019 Feb;5(1) Epub 2019 Feb 1 doi: 10.1101/mcs.a003442. PMID: 30709877Free PMC Article

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