Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta
Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta
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DOI：
10.1016/j.archoralbio.2004.12.003
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发表时间：
2005-07-01
影响因子：
3
通讯作者：
Wright, JT
中科院分区：
文献类型：
--
作者：
Ravassipour, DB;Powell, CM;Wright, JT
无釉发育不全症（Al）是一种主要影响牙釉质和牙釉质数量的遗传性疾病，然而，受影响的个体通常有开牙合错。根据所涉及的发育机制和牙釉质表型，可以识别出三种主要的Al类型。本研究的目的是评估Al牙釉质缺损与开放咬合错的颅面特征的关系。样本包括来自18个不同种类的54名受铝影响的家庭成员和34名未受影响的家庭成员。对侧位脑电图进行数字化处理，并使用z分数评估垂直平面改变的测量结果。42%受影响的个体和12%未受影响的家庭成员有牙齿或骨骼开咬错。骨开咬错在Al患者中表达不同。牙釉质表型的严重程度并不一定与开合错的存在或严重程度相对应。尽管人们认为AMELX和ENAM基因主要或只在牙齿中表达，但在Al患者中，开放咬合错的发生是由AMELX和ENAM基因突变引起的。在所有三种主要Al类型中，均观察到头颅测量值符合骨骼开咬错标准的受影响的Al个体。铝相关性牙釉质缺损与开牙合错的病理生理关系尚不清楚。(c) Elsevier Ltd.出版
The amelogenesis imperfectas (Al) are a diverse group of genetic disorders primarily affecting the quality and or quantity of enamel, however, affected individuals often have an open bite malocclusion. Three main Al types are recognized based on the perceived developmental mechanisms involved and the enamel phenotype. The purpose of this investigation was to evaluate the association of the Al enamel defect with craniofacial features characteristic of an open bite malocclusion. The sample consisted of 54 Al affected and 34 unaffected family members from 18 different kindreds. Lateral cephalograms were digitized and measurements evaluated for vertical plane alterations using Z-scores. Forty two percent of Al affected individuals and 12% of unaffected family members had dental or skeletal open bite malocclusions. Skeletal open bite malocclusion was variably expressed in Al affected individuals. The enamel phenotype severity did not necessarily correspond with the presence or severity of open bite malocclussion. Open bite malocclusion occurred in individuals with Al caused by mutations in the AMELX and ENAM genes even though these genes are considered to be predominantly or exclusively expressed in teeth. Affected Al individuals with cephalometric values meeting our criteria of skeletal open bite malocclusion were observed in all three major Al types. The pathophysiological relationship between Al associated enamel defects and open bite malocclusion remains unknown. (c) Published by Elsevier Ltd.