QUANTITATIVE STUDY OF THE FACE IN WIEDEMANN-BECKWITH SYN

Wiedemann Beckwith综合征（WBS）是一种比较常见的疾病

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.