Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome

Am J Med Genet. 1993 Oct 1;47(5):640-3; discussion 644. doi: 10.1002/ajmg.1320470512.

Abstract

The Dandy-Walker malformation and craniosynostosis have each been described as isolated occurrences and as components of multiple malformation syndromes. The purpose of this report is to delineate the characteristics of a multiple malformation syndrome of Dandy-Walker malformation and sagittal craniosynostosis. The inheritance pattern appears to be autosomal dominant.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Craniosynostoses / complications
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology
  • Dandy-Walker Syndrome / complications
  • Dandy-Walker Syndrome / diagnostic imaging
  • Dandy-Walker Syndrome / genetics*
  • Female
  • Genes, Dominant
  • Humans
  • Hydrocephalus / complications
  • Hydrocephalus / diagnostic imaging
  • Hydrocephalus / genetics*
  • Infant
  • Infant, Newborn
  • Male
  • Radiography
  • Syndrome