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Oral Implantol (Rome). 2010 Jul;3(3):38-44. Epub 2011 Jan 13.

Fragile-X syndrome: genetic aspects and stomatologic evaluations.

Author information

  • 1"S. Giovanni Calibita" AFaR - Fatebenefratelli Hospital - Isola Tiberina, Rome, Italy.

Abstract

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.

KEYWORDS:

FMRP protein; Martin-Bell syndrome; fragile-X syndrome

PMID:
23285388
[PubMed]
PMCID:
PMC3399189
Free PMC Article
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