An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation

Clin Dysmorphol. 2013 Jul;22(3):115-117. doi: 10.1097/MCD.0b013e328360c9ff.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Arnold-Chiari Malformation / genetics
  • Arnold-Chiari Malformation / pathology*
  • Facies
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Karyotype
  • Mutation

Supplementary concepts

  • Cerebrofaciothoracic Dysplasia