Freeman-Sheldon syndrome--prenatal and postnatal diagnosis

Indian J Pediatr. 2010 Feb;77(2):196-7. doi: 10.1007/s12098-009-0227-6. Epub 2009 Dec 11.


A six-day-old girl, born to normal non-consanguineous parents presented with mask like facies with a small mouth giving a 'whistling' appearance. Other dysmorphic features include deep set eyes, broad nasal bridge, long philtrum and 'H' shaped cutaneous dimple on the chin. There was congenital windmill vane hand position and severe talipes equinovarus deformity. The above features are characteristic of Freeman-Sheldon syndrome also known as Whistling Face syndrome. Ultrasound scanning during 8(th) month of the pregnancy showed the fetus to have facial abnormality and bilateral clenched hand and talipes with extension contractures of knees. Provisional diagnosis of FSS was made which was confirmed after the birth. Thus all cases of Arthrogryposis during prenatal scan should be carefully looked for the facial abnormality in the fetus.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / diagnosis*
  • Arthrogryposis / genetics
  • Arthrogryposis / physiopathology*
  • Cytoskeletal Proteins / genetics
  • Facies*
  • Female
  • Foot Deformities / complications
  • Foot Deformities / diagnosis*
  • Humans
  • Infant, Newborn
  • Knee / physiopathology*
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome


  • Cytoskeletal Proteins
  • MYH3 polypeptide, human