Ridaura-Ruiz Lourdes, Quinteros-Borgarello Milva, Berini-Aytés Leonardo, Gay-Escoda Cosme
University of Barcelona Dental School, Spain.
Med Oral Patol Oral Cir Bucal. 2009 Sep 1;14(9):e434-9.
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.
脆性X综合征由X染色体突变引起。它是学习障碍最常见的病因之一。脆性X综合征最常见的表现是学习障碍、不同的口面部形态改变和睾丸增大。该疾病与心脏畸形、关节过度伸展和行为改变有关。我们报告了两名分别为17岁和10岁的男性患者，因严重牙龈炎在我们科室接受治疗。两人均表现出该综合征典型的面部和牙齿特征。此外，我们检测到存在牙根异常，如牛牙症和牙根分叉，文献中尚未将其与脆性X综合征相关联。在某些情况下，这些牙根畸形与其他性连锁先天性综合征有关，尽管文献中发表的研究均未将它们与脆性X综合征联系起来。由于该综合征患病率高、具有某些有助于诊断的口腔和面部特征且迄今发表的病例较少，因此具有重要意义。
