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Type 3 schizencephaly

MedGen UID:
1814210
•Concept ID:
C5676632
•
Congenital Abnormality
HPO: HP:0025704

Definition

A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVType 3 schizencephaly

Recent clinical studies

Etiology

Schizencephaly in Hereditary Hemorrhagic Telangiectasia.
Gaines JJ, Gilbert BC, Gossage JR, Parker W, Reddy A, Forseen SE
AJNR Am J Neuroradiol 2022 Nov;43(11):1603-1607. Epub 2022 Oct 20 doi: 10.3174/ajnr.A7677. PMID: 36265891Free PMC Article
Cortical malformations and COL4A1 mutation: Three new cases.
Vitale G, Pichiecchio A, Ormitti F, Tonduti D, Asaro A, Farina L, Piccolo B, Percesepe A, Bastianello S, Orcesi S; COL4A1 International Study Group
Eur J Paediatr Neurol 2019 May;23(3):410-417. Epub 2019 Feb 22 doi: 10.1016/j.ejpn.2019.02.006. PMID: 30837194
Malformations of cortical development (MCDs) and epilepsy: experience from a tertiary care center in south India.
Mathew T, Srikanth SG, Satishchandra P
Seizure 2010 Apr;19(3):147-52. Epub 2010 Feb 9 doi: 10.1016/j.seizure.2010.01.005. PMID: 20144553
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.
Andrade DM
Hum Genet 2009 Jul;126(1):173-93. Epub 2009 Jun 18 doi: 10.1007/s00439-009-0702-1. PMID: 19536565
Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development.
Montenegro MA, Guerreiro MM, Lopes-Cendes I, Guerreiro CA, Cendes F
Arch Neurol 2002 Jul;59(7):1147-53. doi: 10.1001/archneur.59.7.1147. PMID: 12117363

Diagnosis

Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.
England EC, Cornejo P, Neilson DE, Rao RP, Goncalves LF
Pediatr Radiol 2021 Mar;51(3):480-484. Epub 2020 Oct 15 doi: 10.1007/s00247-020-04847-2. PMID: 33057775
Cortical malformations and COL4A1 mutation: Three new cases.
Vitale G, Pichiecchio A, Ormitti F, Tonduti D, Asaro A, Farina L, Piccolo B, Percesepe A, Bastianello S, Orcesi S; COL4A1 International Study Group
Eur J Paediatr Neurol 2019 May;23(3):410-417. Epub 2019 Feb 22 doi: 10.1016/j.ejpn.2019.02.006. PMID: 30837194
Bilateral operculum syndrome in childhood.
Szabó N, Hegyi A, Boda M, Páncsics M, Pap C, Zágonyi K, Romhányi E, Túri S, Sztriha L
J Child Neurol 2009 May;24(5):544-50. Epub 2009 Feb 5 doi: 10.1177/0883073808327841. PMID: 19196875
Malformations of cortical development and epilepsy: evaluation of 101 cases (part II).
Güngör S, Yalnizoğlu D, Turanli G, Saatçi I, Erdoğan-Bakar E, Topçu M
Turk J Pediatr 2007 Apr-Jun;49(2):131-40. PMID: 17907511
Correlation of neuroradiological, electroencephalographic and clinical findings in cortical dysplasias in children.
Mazurkiewicz-Bełdzińska M, Szmuda M, Matheisel A
Folia Neuropathol 2006;44(4):314-8. PMID: 17183458

Prognosis

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
Thulasirajah S, Wang X, Sell E, Dávila J, Dyment DA, Kernohan KD
Genes (Basel) 2022 Dec 29;14(1) doi: 10.3390/genes14010108. PMID: 36672848Free PMC Article

Clinical prediction guides

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
Thulasirajah S, Wang X, Sell E, Dávila J, Dyment DA, Kernohan KD
Genes (Basel) 2022 Dec 29;14(1) doi: 10.3390/genes14010108. PMID: 36672848Free PMC Article
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):765-772. Epub 2018 Oct 11 doi: 10.1016/j.ejmg.2018.10.004. PMID: 30315939

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