Fragile-X syndrome: genetic aspects and stomatologic evaluations

Muzzi, Fabiana and Santini, F. and Romanini, G. and Bartuli, F.N. and Arcuri, Claudio (2010) Fragile-X syndrome: genetic aspects and stomatologic evaluations. Oral & implantology, 3 (3). pp. 38-44. ISSN 2035-2468

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AIM OF THE WORK: The fragile-X syndrome is the most common cause of inherited mental retardation and it is associated with the FMR1 gene on X chromosome. The origin of anatomic anomalies of maxillo-facial complex is still discussed in literature. The authors describe the syndrome and report a clinical case. METHODS: Genetical and clinical aspects and the incidence of caries, periodontal disease and occlusal abrasion are reviewed. Occlusal conditions, particularly openbite and crossbite, are considered. RESULTS: The incidence of fragile-X syndrome is 1: 2000 in males and 1:4000 in females, despite this the syndrome is diagnosed with a lot of difficulties yet, because of extreme variability of the phenomenological aspects. Patients often show severe mental retardation, linked to a peculiar profile of cognitive, behavioural, and emotional dysfunction and to distinctive anatomic features, which become more evident after puberty. Concerning oral characteristics, it doesn't seem to be a significant association between the syndrome and the incidence of caries or periodontal diseases, while an ogival shaped palate is peculiar. CONCLUSIONS: Literature review suggests that when male patients with severe mental retardation without well-known cause are visited, the ipothesis of X-fragile syndrome should be considered. Even though the diagnostic hypothesis may arise from the observation of typical somatic features, the diagnosis can be confirmed only by genetical tests

Item Type: Article
Uncontrolled Keywords: Fragile-X syndrome, Martin-Bell syndrome, FMRP protein
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 617 Rami vari della medicina; Chirurgia > 617.6 Odontoiatria
Depositing User: Nadia Del Gobbo
Date Deposited: 15 Apr 2013 09:54
Last Modified: 15 May 2013 13:39

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