[Freeman-Sheldon syndrome. Case contribution and review of the literature].
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.
Parisi
G
G
Unitá Operativa Pediatrico-Neonatologica, ULSS n. 15, Presidio Ospedaliero di Vasto, Regione Abruzzo, Vasto (Chieti).
Molino
O
O
Squadrone
N P
NP
Chiarelli
A
A
Jaber
H
H
Galante
E
E
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
La sindrome di Freeman-Sheldon. Contributo casistico e revisione della letteratura.