A whistling face syndrome case with bilateral skin dimples

Genet Couns. 2005;16(1):71-3.

Abstract

The whistling face syndrome (Freeman-Sheldon Syndrome) is a rare disorder characterized by typical face and limb abnormalities. A wide range of clinical findings have been reported. We report unusual skin dimples in a sporadic case with the whistling face syndrome.

MeSH terms

  • Arthrogryposis / genetics
  • Bone Diseases, Developmental / genetics
  • Carpal Bones / abnormalities
  • Child, Preschool
  • Craniofacial Dysostosis / genetics*
  • Face / abnormalities*
  • Humans
  • Karyotyping
  • Male
  • Phenotype
  • Skin Abnormalities / genetics*
  • Syndrome
  • Tarsal Bones / abnormalities