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Pathology of Dandy-Walker Syndrome in Children

This page was last updated on April 8th, 2024


Characteristics of Dandy-Walker syndrome include:

  • Enlarged fourth ventricle: Cystic fourth ventricular dilation is present. The dilation of the fourth ventricle may be due to outflow obstruction of the fourth ventricle or to atresia of the foramina of Luschka and Magendie, but it may also be due to hypoplasia of the cerebellar vermis.
  • Hypoplastic vermis: The cerebellar vermi may be hypoplastic or absent.

Molecular/Genetic Pathology

  • Uncertain genetics: Several genes have been associated with Dandy-Walker malformations, including FOXC1 on human chromosome 6p25 and the linked ZIC1 and ZIC4 genes on human chromosome 3q24 (2). None, however, has been linked decisively with the malformation yet.