Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination.

Academic Article


  • CASE: The authors report a child born with a constellation of findings including Chiari I malformation, Pierre Robin syndrome, and caudal regression syndrome. In addition, this child was found to have a fatty-infiltrated filum terminale and a low conus medullaris. DISCUSSION AND CONCLUSION: In isolation, the Chiari I malformation has been reported in patients with caudal regression and Pierre Robin syndrome. Speculation has been given to the possibility of a common insult to early mesodermal development and each of these pathological entities. To our knowledge, this is the first report of a single patient that possessed all three entities (i.e., Chiari I malformation, Pierre Robin syndrome, and caudal regression syndrome). Further case reports as this may shed light on the dysembryology that results in each of these diagnoses.
  • Authors

    Published In


  • Arnold-Chiari Malformation, Bone Diseases, Developmental, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Pierre Robin Syndrome, Spinal Dysraphism
  • Digital Object Identifier (doi)

    Author List

  • Tubbs RS; Oakes WJ
  • Start Page

  • 1507
  • End Page

  • 1508
  • Volume

  • 22
  • Issue

  • 11