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Microlissencephaly

Known as: Microlissencephalies 
National Institutes of Health

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LISSENCEPHALY 6 WITH MICROCEPHALYMicrocephaly

Papers overview

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2019
2019
Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly
Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. Most of the patients displayed… 
2015
2015
A Case of Norman–Roberts Syndrome Identified from Postnatal Diagnosis of Microlissencephaly
Lissencephaly is a rare brain malformation. What differentiates microlissencephaly from classical lissencephaly and other… 
2012
2012
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly
Lissencephaly is characterized by deficient cortical lamination. Recently homozygous NDE1 mutations were reported in three… 
2010
2010
Extreme Microcephaly, Diffuse Agyria, Agenesis Of Corpus Callosum, Cerebellar Hypoplasia With Dandy-Walker Malformation: Is This A Severe Form (Barth Syndrome) Or A New Variant Of Microlissencephaly
A five month girl with extreme microcephaly and complex brain malformation is reported. Magnetic resonance imaging (MRI) revealed… 
2004
2004
Microcephalia vera and microcephaly with simplified gyral pattern
Key-words Disease name and synonyms Definition/Diagnosis criteria Excluded diseases Differential diagnosis Etiology Clinical… 
Review
2003
Review
2003
Morphological neuroimaging of malformations of cortical development.
Malformations of cortical development are classified on the basis of imaging features and stages of cortical development. They… 
2001
2001
Microlissencephaly with cardiac, spinal and urogenital defects.
We describe two children with a brain defect similar to that described as 'microlissencephaly', as defined in Barkovich et aL… 
1999
1999
Microcephaly with Simplified Gyral Pattern (Oligogyric Microcephaly) and Microlissencephaly
microcephaly 
1999
1999
Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome?
We report on 2 families with diffuse pachygyria and cerebellar hypoplasia, who presented hypotonia, ataxia, seizures, and… 
1999
1999
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They… 
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