Stomatological aspects in fragile X syndrome cases. Literature review and clinical case presentation

Irma Salgado Cedillo, Américo Durán Gutiérrez, Eduardo de la Teja Ángeles


Fragile X syndrome (FXS) is a genetic anomaly caused by excessive replication in the CGG nucleotide sequence which elicits severe physiological and physical anomalies which impair the child’s intellectual development. Moreover, FXS constitutes, after Down’s syndrome, the second most frequent genetic cause for mental retardation. Due to epidemiological transition, attention deficit disorders as well as hyperactivity are confused in the clinical diagnosis; this might lead to a situation where FXS might be under-diagnosed. In the realm of stomatological practice, behavior disorders are most important since communication can be considered the cornerstone of behavior management. The present study purports the aim of encouraging the clinician to look further into patients affl icted with mental retardation, TDA and hyperactivity to fi nd FXS since under-diagnosis impairs treatment, is specifi c and genetic counseling for these patients is of the utmost importance

Palabras clave

Fragile X syndrome, clinical and stomatological characteristics, under-diagnosis.

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