[The Freeman-Sheldon syndrome]

Arch Putti Chir Organi Mov. 1990;38(1):215-22.
[Article in Italian]

Abstract

The authors report two cases of Freeman-Sheldon syndrome, characterised by recessive autosomic transmission, affecting a brother and a sister born of parents who were not blood relations. The syndrome, for which 50 cases are described in the literature, takes its name from the authors who were the first to describe it in 1938. The typical picture is based on congenital deformity involving the cranium, the face and the locomotor apparatus, with a particular aspect of the subject affected related to his or her expression, resembling that of someone whistling ("whistling face", Burian, 1963). In addition to the descriptive aspect of the syndrome and to the means of its transmission, the authors report orthopaedic aspects concerning the locomotor apparatus and problems related to the type of surgery performed.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Bone and Bones / diagnostic imaging
  • Craniofacial Dysostosis / diagnosis*
  • Humans
  • Infant, Newborn
  • Radiography
  • Syndrome