Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis.
Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis.
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半面部短小症和下颌面骨发育不全中下颌骨、颧骨和中耳小骨的形态发生异常。
DOI：
10.1002/ajmg.1320320107
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Kay,CN
中科院分区：
文献类型：
--
作者：
Kay,ED;Kay,CN
回顾各种“第一弓”综合征患者的解剖变化，发现一些异常（如小颌畸形、耳缺损）通常同时出现。本研究检验了下颌骨、颧弓和中耳听骨是一个发育领域的假设（即，当这些结构中的任何一个异常时，其他两个也会异常）。使用25例颌面部发育不良（MFD）患者和40例面肌短小（HFM）患者的数据对该假设进行了检验。汇总数据分析表明，性状关联假说基本成立。然而，中位数表明，在MFD和HFM中，不同的因素可能在决定这三种解剖结构如何相关方面发挥了作用。时间发生错误可能是HFM表型的主要原因。Meckel软骨和腭方软骨的改变可以解释在听骨和下颌骨观察到的大小和形状的变化，而颅底软骨的变化可以解释颧弓的变化。由于这三种结构在MFD中同样受到影响，因此用干扰时间发生作为表型的解释是有问题的。我们的结论是，尽管下颌骨、颧弓和中耳听骨似乎形成了一个“发育场”，但HFM和MFD的结构之间的联系是不同的。与MFD相比，HFM对颧弓的累及相对较小，这表明两种诊断组的发病机制不同，可能是判断HFM动物模型的有用标准。
A review of the anatomical changes in patients with various “first arch” syndromes shows that some anomalies (e.g., micrognathia, ear defects) generally appear together. This study tested the hypothesis that the mandible, zygomatic arch, and middle ear ossicles are a developmental field (i.e., when any of these structures is anomalous, the other two will be also). The hypothesis was tested using data from 25 patients with mandibulofacial dysostosis (MFD) and 40 patients with hemifacial microsomia (HFM).Analysis of the pooled data showed that the hypothesis of character association was generally supported. However, the medians suggested that different factors probably played a role in determining how these three anatomical structures were associated in MFD and HFM. Errors in chrondrogenesis may have been primarily responsible for the HFM phenotype. Alterations in Meckel and palatoquadrate cartilages would account for the size and shape changes observed in the ossicles and mandible, while changes in cranial base cartilages may explain the changes noted in the zygomatic arch. Since all three structures were equally affected in MFD, it is problematic to use an interference with chrondrogenesis as an explanation for the phenotype.We conclude that although the mandible, zygomatic arch, and middle ear ossicles appear to form a “developmental field,” the association between structures varies for HFM and MFD. The relatively lesser involvement of the zygomatic arch in HFM than in MFD suggests different pathogeneses for the two diagnostic groups and maybe a useful criterion for judging animal models of HFM.