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埃利斯-范克里夫德综合征

Ellis-van Creveld syndrome.

作者信息

Sasalawad Shilpa S, Hugar Shivayogi M, Poonacha K S, Mallikarjuna Rachappa

机构信息

Department of Pedodontics and Preventive Dentistry, KLE VK Institute of Dental Sciences, Belgaum, Karnataka, India.

出版信息

BMJ Case Rep. 2013 Jul 9;2013:bcr2013009463. doi: 10.1136/bcr-2013-009463.

Abstract

Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia is an autosomal recessive disorder with characteristic clinical manifestations. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. Its incidence in the general population is low. The oral manifestations of EvC syndrome include both soft tissues and teeth, but the dental literature on the subject is scarce. The present case describes the constant and variable oral findings in these patients, which can be diagnosed at any age, even during pregnancy. The presence of a variety of oral manifestations, such as fusion of 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.

摘要

埃利斯-范克里维尔德(EvC)综合征或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。其四个主要特征为软骨发育不良、多指(趾)畸形、外胚层发育不良和先天性心脏缺陷。其在普通人群中的发病率较低。EvC综合征的口腔表现包括软组织和牙齿方面,但关于该主题的牙科文献较少。本病例描述了这些患者持续存在和多变的口腔表现,这些表现可在任何年龄诊断出来,甚至在孕期。多种口腔表现的存在,如唇与牙龈边缘融合、多个系带存在、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。

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