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Literature DB >> 7783181

Familial schizencephaly: further delineation of a rare disorder.

F Haverkamp¹, K Zerres, B Ostertun, D Emons, M J Lentze.

Abstract

We report on two Somalian sibs with severe developmental retardation and spastic cerebral paresis. Both children have bilateral cerebral clefts in the Sylvian region with dilatation of the ventricles, absence of the septum pellucidum, and heterotopia. The diagnosis of familial schizencephaly was made. The occurrence of schizencephaly in two affected sibs supports a genetic basis for schizencephaly.

Entities: Disease Species

Mesh：

Year: 1995 PMID： 7783181 PMCID： PMC1050329 DOI： 10.1136/jmg.32.3.242

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

15 in total

1. Familial porencephaly.

Authors: A Sensi; S Cerruti; E Calzolari; F Vesce
Journal: Clin Genet Date: 1990-11 Impact factor: 4.438

2. [Comparative study of prenatal and perinatal circulatory encephalopathies (hydranencephalies, porencephalies and cystic encephalomalacias of the white matter)].

Authors: G Lyon; O Robain
Journal: Acta Neuropathol Date: 1967-08-02 Impact factor: 17.088

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Authors: J Zonana; B T Adornato; S T Glass; M J Webb
Journal: J Pediatr Date: 1986-10 Impact factor: 4.406

4. Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs.

Authors: R Dominguez; A Aguirre Vila-Coro; J M Slopis; T P Bohan
Journal: Am J Dis Child Date: 1991-06

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Authors: L M Smit; P G Barth; J Valk; C Njiokiktjien
Journal: Brain Dev Date: 1984 Impact factor: 1.961

6. Familial porencephaly.

Authors: R A Berg; K A Aleck; A M Kaplan
Journal: Arch Neurol Date: 1983-09

7. Familial schizencephaly.

Authors: A C Hilburger; J K Willis; E Bouldin; A Henderson-Tilton
Journal: Brain Dev Date: 1993 May-Jun Impact factor: 1.961

8. Destructive lesions of the brain.

Authors: C Raybaud
Journal: Neuroradiology Date: 1983 Impact factor: 2.804

9. The CT and MR evaluation of migrational disorders of the brain. Part II. Schizencephaly, heterotopia and polymicrogyria.

Authors: S E Byrd; R E Osborn; T P Bohan; T P Naidich
Journal: Pediatr Radiol Date: 1989

Familial schizencephaly: further delineation of a rare disorder.

1. Familial porencephaly.

2. [Comparative study of prenatal and perinatal circulatory encephalopathies (hydranencephalies, porencephalies and cystic encephalomalacias of the white matter)].

3. Familial porencephaly and congenital hemiplegia.

4. Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs.

5. Familial porencephalic white matter disease in two generations.

6. Familial porencephaly.

7. Familial schizencephaly.

8. Destructive lesions of the brain.

9. The CT and MR evaluation of migrational disorders of the brain. Part II. Schizencephaly, heterotopia and polymicrogyria.

10. Postencephalitic porencephaly, hydranencephaly or polymicrogyria. A review.

1. Schizencephaly with occlusion or absence of middle cerebral artery.

2. An unusual clinical presentation of bilateral schizencephaly.

3. Dizygotic twins with schizencephaly and focal cortical dysplasia.

Review 4. A developmental and genetic classification for malformations of cortical development: update 2012.