Autosomal recessive form of whistling face syndrome in sibs

Am J Med Genet. 1989 Aug;33(4):542-4. doi: 10.1002/ajmg.1320330426.


Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Craniofacial Dysostosis / genetics*
  • Facial Expression*
  • Female
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital
  • Male
  • Syndrome