Results 161 to 170 of about 7,462 (203)
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The Neurogenetics of Lissencephaly
Neurologic Clinics, 1989A comprehensive approach to diagnosis of patients with lissencephaly using clinical, CT and MRI scan, and sometimes other laboratory data will allow a specific diagnosis to be made in a large majority of patients. The most common diagnoses in order of decreasing frequency will probably prove to be WWS, MDS, and ILS.
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Sonographic diagnosis of lissencephaly
Pediatric Radiology, 1987Lissencephaly, a developmental malformation characterized by absence of sulci, may be suggested in dysmorphic or epileptic infants. Real time ultrasonographic findings correlated with typical electroencephalographic abnormalities establish the diagnosis.
J, Motte +3 more
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Ocular findings in lissencephaly
Journal of American Association for Pediatric Ophthalmology and Strabismus, 2003To report our retrospective study of 20 cases with lissencephaly and describe ocular and visual abnormalities associated with this disorder.Patients with lissencephaly were identified and classified into classic (type I) or cobblestone (type 2) lissencephaly on the basis of a review of clinical records and neuroimaging studies.
Naeem U, Nabi +4 more
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2007
Publisher Summary Lissencephaly type II is a group of complex brain malformations that anatomically consists of “cobblestone” cortex, abnormal white matter, enlarged ventricles, small brainstem, hypoplastic vermis, and cerebellar polymicrogyria. The spectrum varies from a mild disorganization of the brain layers to severely dysplastic brains.
Haluk, Topaloğlu, Beril, Talim
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Publisher Summary Lissencephaly type II is a group of complex brain malformations that anatomically consists of “cobblestone” cortex, abnormal white matter, enlarged ventricles, small brainstem, hypoplastic vermis, and cerebellar polymicrogyria. The spectrum varies from a mild disorganization of the brain layers to severely dysplastic brains.
Haluk, Topaloğlu, Beril, Talim
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Lissencephaly with Cerebellar Hypoplasia
2008Abstract Lissencephaly with cerebellar hypoplasia (LCH) is characterized by abnormal development of both the cerebral cortex and cerebellum. LCH is distinguished from classical lissencephaly (Chapter 150) by profound cerebellar hypoplasia and less severe cortical malformations.
Eric C. Olson, Christopher A. Walsh
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Ocular malformations and lissencephaly
European Journal of Pediatrics, 1987Retinal dysplasia and agyria without cortical lamination are the constant findings in this autosomal recessive syndrome. There may also be anterior chamber malformations, cataract, and microphthalmos. Brain autopsies have shown a variety of associated malformations such as posterior encephalocele, Arnold-Chiari malformation, agenesis of the septum ...
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2007
Publisher Summary Classical or type I lissencephaly are a group of cortical malformations with the common features of cortical thickening and a reduction in gyration. Classical lissencephaly is primarily a disorder of neuroblast migration and is the first of the human cortical malformations for which the genetic basis, and subsequently the molecular ...
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Publisher Summary Classical or type I lissencephaly are a group of cortical malformations with the common features of cortical thickening and a reduction in gyration. Classical lissencephaly is primarily a disorder of neuroblast migration and is the first of the human cortical malformations for which the genetic basis, and subsequently the molecular ...
openaire +2 more sources