Freeman-Sheldon syndrome: a case report

Quintessence Int. 2003 Apr;34(4):307-10.


Freeman-Sheldon syndrome, also called "whistling-face syndrome," is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face and skeleton. Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage. This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Craniofacial Abnormalities*
  • Dental Care for Disabled*
  • Facies
  • Foot Deformities, Congenital
  • Hand Deformities, Congenital
  • Humans
  • Male
  • Microstomia
  • Scoliosis
  • Syndrome