Whistling face syndrome: MR imaging findings in the brain

Eur Radiol. 1996;6(1):102-4. doi: 10.1007/BF00619972.


Whistling face syndrome or cranio-carpo-tarsal dysplasia is a very rare disorder that consists of a characteristic facies and digital abnormalities. Magnetic resonance imaging investigation of the brain in this syndrome has not been reported previously. This communication describes the brain malformations in an infant with the syndrome, which covered delayed myelination, thickened and infolded cortices (cortical dysplasia), dysplastic corpus callosum, and agenesis of the inferior vermis.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum
  • Brain / abnormalities*
  • Cerebellum / abnormalities
  • Cerebral Cortex / abnormalities
  • Clubfoot / pathology
  • Face / abnormalities*
  • Female
  • Fingers / abnormalities
  • Humans
  • Infant
  • Magnetic Resonance Imaging*
  • Myelin Sheath / pathology
  • Syndrome