title: Fragile X-syndrome: literature review and report of two cases.
abstract: Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an increase in testicle size. The disease is associated with cardiac malformations, joint hyperextension and behavioural alterations. We present two male patients aged 17 and 10 years, treated in our Service due to severe gingivitis. Both showed the typical facial and dental characteristics of the syndrome. In addition, we detected the presence of root anomalies such as taurodontism and root bifurcation, which had not been associated with fragile X-syndrome in the literature. In some cases these root malformations have been associated with other sex-linked congenital syndromes, though in none of the studies published in the literature have they been related with fragile X-syndrome. This syndrome is relevant due to its high prevalence, the presentation of certain oral and facial characteristics that can facilitate the diagnosis, and the few cases published to date.
authors.affiliation: University of Barcelona Dental School, Spain.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Ridaura-Ruiz
authors.forename: Milva
authors.initials: M
authors.lastname: Quinteros-Borgarello
authors.forename: Leonardo
authors.initials: L
authors.lastname: Berini-Aytés
authors.forename: Cosme
authors.initials: C
authors.lastname: Gay-Escoda
mesh_terms: D000293:Adolescent; D002648:Child; D005600:Fragile X Syndrome / Q000175:diagnosis*; D006801:Humans; D008297:Male