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 learningdisability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacialmorphological 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 ourService 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 beenassociated with fragile X-syndrome in the literature. In some cases these root malformations have been associatedwith other sex-linked congenital syndromes, though in none of the studies published in the literature have theybeen related with fragile X-syndrome.This syndrome is relevant due to its high prevalence, the presentation of certain oral and facial characteristics thatcan facilitate the diagnosis, and the few cases published to date (AU)

RESUMEN

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