Van der Woude syndrome: dentofacial features and implications for clinical practice.
Van der Woude syndrome: dentofacial features and implications for clinical practice.
复制标题
范德沃德综合征：牙面部特征及其对临床实践的影响。
DOI：
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发表时间：
2010
影响因子：
2.1
通讯作者：
P. Anderson
中科院分区：
文献类型：
--
作者：
A. Lam;D. David;D. David;G. Townsend;P. Anderson;P. Anderson
背景
范德伍德综合征(VWS)是人类最常见的唇裂综合征。它的特点是先天性下唇瘘与唇裂和/或腭裂有关。大众有很高的缺牙症患病率。虽然由单个基因突变引起，但VWS具有不同的表型表达。这项研究旨在描述22例VWS患者的临床表现范围，以便于其诊断。
方法
在阿德莱德的澳大利亚颅面科(ACFU)对22名被诊断为VWS的患者进行了回顾性研究。有受影响成员的三个大家庭包括在研究队列中。
结果
在这项研究队列中，唇窝的总体患病率为86%。唇腭裂表型包括双侧唇腭裂(32%)，单侧唇腭裂(32%)，粘膜下腭裂(23%)，单侧软硬腭裂(9%)。据报道，86%的受影响个人恒牙缺失。
结论
如果没有发现下唇窝，VWS中的粘膜下腭裂可能无法诊断。相关的牙齿缺失和由此导致的咬合不良也需要牙科团队的管理。
BACKGROUND
Van der Woude syndrome (VWS) is the most common clefting syndrome in humans. It is characterized by the association of congenital lower lip fistulae with cleft lip and/or cleft palate. VWS individuals have a high prevalence of hypodontia. Although caused by a single gene mutation, VWS has variable phenotypic expression. This study aimed to describe the range of clinical presentations in 22 individuals with VWS to facilitate its diagnosis.
METHODS
A retrospective study of 22 patients with a diagnosis of VWS was undertaken at the Australian Craniofacial Unit (ACFU) in Adelaide. Three extended families with affected members were included in the study cohort.
RESULTS
The overall prevalence of lip pits in this study cohort was 86%. Cleft phenotypes included bilateral cleft lip and palate (32%); unilateral cleft lip and palate (32%); submucous cleft palate (23%); and isolated cleft hard and soft palate (9%). Missing permanent teeth were reported in 86% of affected individuals.
CONCLUSIONS
Submucous cleft palate in VWS may go undiagnosed if the lower lip pits are not detected. Associated hypodontia and resultant malocclusions will also require management by a dental team.
范德沃德综合征的不同表达的同卵双胞胎。
DOI：
10.1002/ajmg.a.34022
发表时间：
2011
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
Jobling,Rebekah;Ferrier,RaechelA;McLeod,Ross;Petrin,AlineLourenco;Murray,JeffreyC;Thomas,MaryAnn
通讯作者：
Thomas,MaryAnn