A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation

Childs Nerv Syst. 2018 Jan;34(1):23-25. doi: 10.1007/s00381-017-3646-0. Epub 2017 Oct 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / diagnostic imaging
  • Craniofacial Dysostosis / complications*
  • Craniofacial Dysostosis / genetics*
  • Craniofacial Dysostosis / surgery
  • Female
  • Humans
  • Infant, Newborn
  • Lissencephaly / complications*
  • Lissencephaly / genetics*
  • Lissencephaly / surgery
  • Magnetic Resonance Imaging
  • Mutation / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Ventriculoperitoneal Shunt

Substances

  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2