[Freeman-Sheldon syndrome. Case contribution and review of the literature]

Minerva Pediatr. 1991 Oct;43(10):653-9.
[Article in Italian]


The paper reports a case of Freeman-Sheldon's syndrome in which a medium-slight degree of mental retardation which was not associated to malformations of the CNS was observed in addition to other typical symptoms. The presence of an hiatal hernia and vesico-ureteral reflow was also noted; to date it is still not possible to establish whether these visceral anomalies are chance findings or whether they are the result of a genetic defect involving tissues of different embryonal origin. Further studies are required to increase our knowledge of Freeman-Sheldon's syndrome and other nosologically related pathologies.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Face / abnormalities*
  • Hernia, Hiatal*
  • Humans
  • Infant
  • Intellectual Disability*
  • Male
  • Syndrome
  • Vesico-Ureteral Reflux*