Cahuana Abel, Palma Camila, Gonzáles Wilber, Geán Esther
Pediatric Dentistry and Orthodontics Service, University of Barcelona, Barcelona, Spain.
Pediatr Dent. 2004 May-Jun;26(3):277-82.
Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft tissues and teeth, but the dental literature on the subject is scarce. In the last 20 years, 5 cases of Ellis-van Creveld syndrome have been followed at the Pediatric Dentistry Service of the Hospital Sant Joan de Déu, Barcelona. The present study describes the constant and variable oral findings in these patients, which play an important role in the diagnosis criteria for the syndrome. The presence of a great variety of oral manifestations such as fusion of the upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth, and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients.
埃利斯-范克里维尔德综合征,又称软骨外胚层发育不良,是一种具有特征性临床表现的常染色体隐性疾病。其在普通人群中的发病率较低。埃利斯-范克里维尔德综合征的口腔表现见于软组织和牙齿,但关于该主题的牙科文献较少。在过去20年里,巴塞罗那圣琼德迪乌医院儿童牙科服务中心对5例埃利斯-范克里维尔德综合征患者进行了跟踪观察。本研究描述了这些患者中持续存在和变化的口腔检查结果,这些结果在该综合征的诊断标准中起着重要作用。多种口腔表现的存在,如唇与牙龈边缘融合、多个系带、牙齿形态异常和过小牙以及先天性缺牙,需要多学科牙科治疗,并考虑到这些患者心脏缺陷的高发病率。