title: [Freeman-Sheldon syndrome. Case contribution and review of the literature].
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.
authors.affiliation: Unitá Operativa Pediatrico-Neonatologica, ULSS n. 15, Presidio Ospedaliero di Vasto, Regione Abruzzo, Vasto (Chieti).
authors.forename: G
authors.initials: G
authors.lastname: Parisi
authors.forename: O
authors.initials: O
authors.lastname: Molino
authors.forename: N P
authors.initials: NP
authors.lastname: Squadrone
authors.forename: A
authors.initials: A
authors.lastname: Chiarelli
authors.forename: H
authors.initials: H
authors.lastname: Jaber
authors.forename: E
authors.initials: E
authors.lastname: Galante
mesh_terms: D000015:Abnormalities, Multiple; D005145:Face / Q000002:abnormalities*; D006551:Hernia, Hiatal; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome; D014718:Vesico-Ureteral Reflux
vernacular_title: La sindrome di Freeman-Sheldon. Contributo casistico e revisione della letteratura.