Recessive form of Freeman-Sheldon's syndrome or 'whistling face',

J Med Genet. 1977 Apr;14(2):139-41. doi: 10.1136/jmg.14.2.139.


Freeman-Sheldon's syndrome is a rare genetic disease inherited as an autosomal dominant trait in some families but showing sporadic appearance in the majority of the reported cases. In the present paper we report a family having two affected children from normal consanguineous parents suggesting that Freeman-Sheldon's syndrome may be heterogeneous from the genetic point of view.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Blepharoptosis / genetics
  • Child
  • Consanguinity
  • Craniofacial Dysostosis / genetics*
  • Female
  • Genes, Recessive*
  • Humans
  • Male
  • Mouth Abnormalities / genetics*
  • Pedigree
  • Syndrome