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Pediatric Radiology
Published in: Pediatric Radiology 13/2020

01-12-2020 | Fetal Magnetic Resonance Imaging | Fetal Imaging

Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development

Authors: Carolina V. A. Guimaraes, Hisham M. Dahmoush

Published in: Pediatric Radiology | Issue 13/2020

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Abstract

The increase in understanding of molecular biology and recent advances in genetic testing have caused rapid growth in knowledge of genetic causes of malformations of cortical development. Imaging diagnosis of malformations of cortical development can be made prenatally in a large subset of fetuses based on the presence of specific deviations from the normal pattern of development, characteristic imaging features, and associated non-central-nervous-system (CNS) abnormalities. In this review the authors discuss the role of four key cell molecules/molecular pathways in corticogenesis that are frequently implicated in complex prenatally diagnosed malformations of cortical development. The authors also list the currently described genes causing defects in these molecules/molecular pathways when mutated, and the constellation of imaging findings resultant of such defects.
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Metadata
Title
Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development
Authors
Carolina V. A. Guimaraes
Hisham M. Dahmoush
Publication date
01-12-2020
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Radiology / Issue 13/2020
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-020-04674-5

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