Pontine hypoplasia in 5p-syndrome: A key MRI finding for a diagnosis

Brain Dev. 2010 Aug;32(7):571-3. doi: 10.1016/j.braindev.2009.07.003. Epub 2009 Aug 3.


A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypoplasia should be asked about a history of a high-pitched cry in infancy so as not to miss this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cri-du-Chat Syndrome / diagnosis
  • Cri-du-Chat Syndrome / pathology*
  • Cri-du-Chat Syndrome / physiopathology
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging*
  • Pons / pathology*