Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family

Am J Med Genet. 1987 Oct;28(2):471-5. doi: 10.1002/ajmg.1320280224.


We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X-linked recessive form of this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Child, Preschool
  • China
  • Clubfoot / genetics*
  • Face / abnormalities*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Male
  • Syndrome