Prenatal diagnosis of Freeman-Sheldon syndrome (whistling face)

Prenat Diagn. 1995 Feb;15(2):179-82. doi: 10.1002/pd.1970150212.


The diagnosis of Freeman-Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.

Publication types

  • Case Reports

MeSH terms

  • Facial Bones / abnormalities*
  • Female
  • Foot Deformities, Congenital / diagnostic imaging*
  • Genes, Dominant*
  • Hand Deformities, Congenital / diagnostic imaging*
  • Humans
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*