Beare-Stevenson cutis gyrata syndrome with Chiari malformation

Acta Neurochir (Wien). 2002 Jul;144(7):743-5. doi: 10.1007/s00701-002-0933-6.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / surgery*
  • Adult
  • Amino Acid Substitution / genetics
  • Arnold-Chiari Malformation / diagnosis
  • Arnold-Chiari Malformation / genetics
  • Arnold-Chiari Malformation / surgery*
  • Craniosynostoses / diagnosis
  • Craniosynostoses / genetics
  • Craniosynostoses / surgery*
  • Cystine / genetics
  • Female
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics
  • Hydrocephalus / surgery
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Postoperative Complications / diagnosis
  • Postoperative Complications / surgery
  • Pregnancy
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor / genetics
  • Reoperation
  • Syndrome
  • Tomography, X-Ray Computed
  • Tyrosine / genetics
  • Ultrasonography, Prenatal

Substances

  • Receptors, Fibroblast Growth Factor
  • Tyrosine
  • Cystine
  • FGFR2 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 2