QUANTITATIVE STUDY OF THE FACE IN WIEDEMANN-BECKWITH SYN

Wiedemann Beckwith综合征(WBS)是一种相对常见的 先天性疾病的特征是a基因的表达不稳定 一组特征包括巨人症，腹壁 缺陷，内脏肿大，新生儿低血糖，巨舌症和 一张不同寻常的脸。这项研究的目的是描述 定量研究WBS患者的面部状况。这些技术 可使用的方法有人体测量和头影测量。最直接的 我们的目标是定义一组头面部变量， 可用于区分受影响的人和正常的人 个人。受影响个人的一级亲属也将 接受检查，因为已知它们可以表达各种 WBS的成分没有明显的临床症状。 因此，将收集25至30个受影响的数据 个人以及他们所有的一级亲属。数据 将由56个人体测量和65个头影测量组成 测量。单变量和多变量统计分析 将对数据执行，以便定义最有用的 一组判别变量并寻找疾病的证据 异质性。来自一级亲属的数据将被分析 为了确定面部特征在多大程度上 功能与与 无序。然后这些信息将被用于标准的基因 分离分析，以测试各种继承模式。这 研究具有重要意义，因为它将提供第一个目标 对长期识别的面部相似性的评估 受WBS影响的个人。对中国传统文化的定量描述 WBS面孔有助于病情的早期诊断。 早期诊断至关重要，因为新生儿低血糖 经常伴随着它，如果没有被发现，可能会有生命危险 然后改正了。继承模式的定义将 提高遗传咨询的准确性，开辟 对这种情况进行更多研究的可能性 重组DNA技术定位并最终描述 负责WBS的一个或多个基因。

The Wiedemann Beckwith Syndrome (WBS) is a relatively common congenital condition characterized by variable expression of a suite of characteristics including gigantism, abdominal wall defects, visceromegally, neonatal hypoglycemia, macroglossia and an unusual face. The purpose of this research is to describe quantitatively the face in individuals with WBS. The techniques to be used are anthropometry and cephalometry. The immediate objective will be to define a set of cranio-facial variables which can be useful in discriminating affected individuals from normal individuals. First degree relatives of affected individuals will also be examined since it is known that they can express various components of WBS without having the overt clinical condition. Data will thus be collected on twenty-five to thirty affected individuals as well as all of their first degree relatives. The data will consist of a series of 56 anthropometric and 65 cephalometric measurements. Univariate and multivariate statistical analysis will be performed on the data in order to define the most useful set of discriminating variables and to look for evidence of disease heterogeneity. Data from first degree relatives will be analyzed in order to determine the extent to which characteristic facial features segregate with other components associated with the disorder. This information will then be used in a standard genetic segregation analysis to test various models of inheritance. This research is significant because it will provide the first objective assessment of the long recognized facial similarity among individuals affected with WBS. The quantitative description of the WBS face can aid in the early diagnosis of the condition. Early diagnosis is critical since the neonatal hypoglycemia that often accompanies it can be life threatening if not detected and then corrected. The definition of a mode of inheritance would improve the accuracy of genetic counseling and open up the possibility for additional studies of the condition using recombinant DNA technology to localize and eventually describe the gene or genes responsible for WBS.