Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

Am J Med Genet A. 2010 Jul;152A(7):1621-6. doi: 10.1002/ajmg.a.33200.


We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Acrocallosal Syndrome / complications*
  • Agenesis of Corpus Callosum*
  • Child, Preschool
  • Facies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Lymphedema / complications*
  • Lymphedema / congenital*
  • Magnetic Resonance Imaging
  • Male
  • Pregnancy
  • Syndrome