Whistling face (Freeman-Sheldon) syndrome in two siblings

Turk J Pediatr. Oct-Dec 1994;36(4):329-32.

Abstract

Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small mouth, mask-like face, high-arched palate, nasal speech, dysphagia, kyphosis and minimal scoliosis were noted, while Case 2 displayed blepharophimosis, mask-like face, long philtrum, high-arched palate, scoliosis, bilateral post-axial polydactyly of the feet and pes varus. We corrected the blepharophimosis in Case 1 by bilateral canthotomy and canthoplasty. This syndrome is usually inherited as an autosomal dominant trait; however, some authors have reported an autosomal an autosomal recessive form of this syndrome similar to our cases. Nevertheless, this could be explained by genetic expression of the mutant gene.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Craniofacial Dysostosis / genetics*
  • Face / abnormalities
  • Female
  • Humans
  • Male
  • Syndrome