Dandy-Walker malformation: a review of 78 cases diagnosed by prenatal sonography

Fetal Diagn Ther. 2004 Jul-Aug;19(4):342-7. doi: 10.1159/000077963.

Abstract

Objective: The purpose of this study was to determine the associated abnormalities and clinical outcomes of fetuses with Dandy-Walker malformations.

Methods: Sonograms and medical reports of 78 cases were reviewed and information regarding each outcome was collected from autopsy records, hospital charts and specialists caring for the surviving infants.

Results: We identified 64 fetuses with classic Dandy-Walker malformation (DW) and 14 fetuses with Dandy-Walker variant (DWV). A high proportion (44.8%) of the parents were consanguineous. The spectrum and proportion of central nervous system (67.1 vs. 71.4%; p = 1.0) and other malformations (43.7 vs. 64.2%; p = 0.57) associated with DW and DWV were similar. Chromosome abnormalities were found in 9 of the 51 (17.6%) fetuses that underwent karyotype analysis. Only 4 of 64 (6.2%) DW and 3 of 14 (21.4%) DWV infants survived (p 0.14), and all surviving infants with DW or DWV had neurological disorders.

Conclusions: DW and DWV cases show so many similarities that a clear-cut distinction is difficult. There was no significant difference in the spectrum of associated anomalies and postnatal prognosis between DW and DWV cases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child, Preschool
  • Dandy-Walker Syndrome / diagnostic imaging*
  • Dandy-Walker Syndrome / epidemiology
  • Dandy-Walker Syndrome / genetics
  • Female
  • Humans
  • Infant
  • Pregnancy
  • Ultrasonography, Prenatal* / statistics & numerical data