Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome
Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome
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DOI：
10.1002/ajmg.a.31622
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发表时间：
2007-03-15
影响因子：
2
通讯作者：
Lacombe, D.
中科院分区：
文献类型：
--
作者：
Bloch-Zupan, A.;Stachtou, J.;Lacombe, D.
Rubinstein-Taybi综合征（RTS; OMIM #180849）是一种众所周知的疾病，其特征是智力和生长迟缓、宽拇指和大脚趾以及不寻常的面部特征。我们研究了一组RTS患者的口腔-牙科结果：12名来自英国，2名来自希腊，26名来自法国。由两名研究人员进行检查，使用诊断牙齿缺陷数据库记录表记录这些。各种口腔牙齿的功能被发现：小口，retrognathia，micrognathia，高度拱形和狭窄的腭，爪尖，表达拥挤，螺丝刀门齿，反咬，和釉质发育不全。爆发通常是正常的。特别注意这些异常应有助于诊断和帮助适当的管理。(c)2007 Wiley-Liss，Inc.
Rubinstein-Taybi syndrome (RTS; OMIM #180849) is a well-known disorder characterized by mental and growth retardation, broad thumbs and great toes, and unusual facial characteristics. We studied oro-dental findings in a group of RTS patients: 12 from the UK, 2 from Greece, and 26 from France. All were examined by two investigators, using the Diagnosing Dental Defects Database record form to document these. Various oro-dental features were found: small mouth, retrognathia, micrognathia, highly arched and narrow palate, talon cusps, expressed crowding, screwdriver incisors, cross bites, and enamel hypoplasia. Eruption was usually normal. Specific attention for these anomalies should facilitate diagnosis and help adequate management. (c) 2007 Wiley-Liss, Inc.