A unique case of CHARGE syndrome with craniosynostosis

Childs Nerv Syst. 2019 Jan;35(1):11-13. doi: 10.1007/s00381-018-4005-5. Epub 2018 Nov 29.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • CHARGE Syndrome / complications*
  • CHARGE Syndrome / diagnostic imaging
  • CHARGE Syndrome / genetics
  • Craniosynostoses / complications*
  • Craniosynostoses / diagnostic imaging
  • Craniosynostoses / genetics
  • DNA Helicases / genetics
  • DNA-Binding Proteins / genetics
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics
  • Tomography, X-Ray Computed

Substances

  • DNA-Binding Proteins
  • DNA Helicases
  • CHD7 protein, human