Show Summary Details
Page of

Developmental abnormalities of the central nervous system 

Developmental abnormalities of the central nervous system
Developmental abnormalities of the central nervous system

Christopher M. Verity

, Jane A. Hurst

, and Helen V. Firth

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

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.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.