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Developmental abnormalities of the central nervous system 

Developmental abnormalities of the central nervous system
Chapter:
Developmental abnormalities of the central nervous system
Author(s):

Christopher M. Verity

, Jane A. Hurst

, and Helen V. Firth

DOI:
10.1093/med/9780198746690.003.0613
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date: 25 February 2021

This chapter deals with abnormalities that may result from failures at particular stages of central nervous system development. The brain and spinal cord arise from a sheet of cells that undergo transformations into the final complex structure. Failure of closure of the neural tube may result in anencephaly or spina bifida and failure of regionalization may cause holoprosencephaly. Disorders of neural proliferation or migration cause abnormalities of the cerebral cortex. There are distinct malformations of the posterior fossa structures and there are complex malformations that cannot be ascribed to just one abnormal step in development. The clinical problems associated with developmental abnormalities of the central nervous system are discussed and the approach to obtaining a clinical molecular diagnosis and providing genetic advice to the family is outlined.

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