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  • Title: [Freeman-Sheldon syndrome. Case contribution and review of the literature].
    Author: Parisi G, Molino O, Squadrone NP, Chiarelli A, Jaber H, Galante E.
    Journal: Minerva Pediatr; 1991 Oct; 43(10):653-9. PubMed ID: 1758388.
    Abstract:
    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.
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