Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome

Clin Dysmorphol. 2013 Apr;22(2):51-53. doi: 10.1097/MCD.0b013e32835cfb73.

Abstract

The combination of Dandy-Walker malformation, other central nervous system anomalies, and postaxial polydactyly has been reported previously in two pairs of siblings. We propose the name 'Pierquin syndrome' for this combination and we report a new patient with this disorder.

Publication types

  • Case Reports

MeSH terms

  • Aortic Valve Stenosis / pathology
  • Brain / diagnostic imaging
  • Dandy-Walker Syndrome / genetics*
  • Dandy-Walker Syndrome / pathology*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Megalencephaly / genetics
  • Megalencephaly / pathology
  • Polydactyly / genetics*
  • Polydactyly / pathology*
  • Pregnancy
  • Radiography
  • Ultrasonography, Prenatal

Supplementary concepts

  • Dandy Walker malformation postaxial polydactyly