Craniofrontonasal dysplasia associated with Chiari malformation

J Neurosurg Pediatr. 2010 Apr;5(4):375-9. doi: 10.3171/2009.10.PEDS09155.

Abstract

Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone dysplasia/hypertrophy resulted in reduction in the posterior cranial fossa volume in all 3 patients, and in a CM associated with syringomyelia in 2 of them. One of the 2 affected family members who had a CM and syringomyelia was symptomatic and was treated by foramen magnum decompression surgery. The 3 family members had remarkable similarity in their external facial features and in their radiologically revealed morphological features. A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / surgery
  • Arnold-Chiari Malformation / complications*
  • Arnold-Chiari Malformation / diagnostic imaging
  • Craniofacial Dysostosis / complications*
  • Craniofacial Dysostosis / diagnostic imaging
  • Craniofacial Dysostosis / surgery
  • Craniosynostoses / complications*
  • Craniosynostoses / diagnostic imaging
  • Craniosynostoses / surgery
  • Family Health
  • Female
  • Humans
  • Hypertelorism / complications
  • Hypertelorism / diagnostic imaging
  • Hypertelorism / surgery
  • Middle Aged
  • Nose / abnormalities*
  • Nose / diagnostic imaging
  • Nose / surgery
  • Tomography, X-Ray Computed
  • Young Adult