Freeman-Sheldon syndrome. Case contribution and review of the literature] |
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Authors: | G Parisi O Molino N P Squadrone A Chiarelli H Jaber E Galante |
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Institution: | Unitá Operativa Pediatrico-Neonatologica, ULSS n. 15, Presidio Ospedaliero di Vasto, Regione Abruzzo, Vasto (Chieti). |
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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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