To access the full text documents, please follow this link:

Fragile X-syndrome: literature review and report of two cases         
Ridaura Ruiz, Lourdes; Quinteros Borgarello, Milva; Berini Aytés, Leonardo; Gay Escoda, Cosme
Universitat de Barcelona
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
Anomalies cromosòmiques
Malformacions dentals
Deficiència mental
Malalties hereditàries
Chromosome abnormalities
Dental abnormalities
Mental deficiency
Genetic diseases
(c) Medicina Oral SL, 2009
Medicina Oral SL

Show full item record

Related documents

Other documents of the same author

Ridaura Ruiz, Lourdes; Barbosa de Figueiredo, Rui Pedro; Valmaseda Castellón, Eduardo; Berini Aytés, Leonardo; Gay Escoda, Cosme
Quinteros Borgarello, Milva; Delgado Molina, Esther; Sánchez Garcés, Ma. Ángeles; Gay Escoda, Cosme
Guinot Moya, Rosa; España Tost, A. J. (Antonio Jesús); Berini Aytés, Leonardo; Gay Escoda, Cosme
Alves Pereira, Daniela; Berini Aytés, Leonardo; Gay Escoda, Cosme
Menardía Pejoan, V.; Berini Aytés, Leonardo; Gay Escoda, Cosme