ORAL & implantology · 2011
Fragile-X syndrome: genetic aspects and stomatologic evaluations.
СтатьяНазвание и аннотация: Перевод в очереди
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Muzzi F, Santini F, Romanini G, Bartuli F N, Arcuri C
Аннотация
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.
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.