CRANIOFACIAL FEATURES IN CHILDREN WITH CHROMOSOME 22Q11 DELETION SYNDROME

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心机构，不一定为研究者机构。染色体22 q11缺失是一种遗传综合征，发生率为1/4000。该综合征的特点是广泛的表型变异，患者可能有一个或多个以下特征：颅面差异，心脏缺陷，胸腺异常，甲状旁腺功能减退，学习困难，精神疾病。大多数22 q11缺失综合征患者在22号染色体的一个拷贝上缺失一个片段。虽然有广泛的兴趣了解这种复杂的遗传综合征的基因型-表型关系，很少有研究被设计来提供客观的描绘这些患者的颅面表型。然而，了解这种表型的遗传贡献将需要更好的定量描述颅面特征。这项试点研究的目的有两个。主要目的是解决这个问题：（1）颅面人体测量是否可以提供一个客观的和具体的描述颅面的差异，临床观察到的染色体22 q11缺失的患者？传统上，颅面测量是通过直接测量（用卡尺）对每个患者进行的。我们现在有了拍摄三维照片的技术，可以获得这些颅面测量结果。使用3dMD相机系统允许快速数据收集，并且比直接测量对患者的负担更小。因此，本项目的第二个目的是解决以下问题：（2）3dMD相机是否是获得准确颅面测量的可靠工具？为了实现这些目标，我们将招募20名染色体22 q11缺失的患者和20名未缺失的对照。我们将使用卡尺对每位参与者进行37次颅面人体测量。然后，我们将用3dMD相机拍摄每个人的照片，并在照片上进行37次测量。为了确定22 q11缺失综合征患者颅面测量的独特模式，我们将比较我们患者的面部测量结果与标准数据库。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Chromosome 22q11 deletion is a genetic syndrome occurring in 1/4000 live births. The syndrome is characterized by wide phenotypic variability, and patients may have one or more of the following features: craniofacial differences, cardiac defects, abnormalities in the thymus gland, hypoparathyroidism, learning difficulties, and psychiatric disorders. Most patients with 22q11 deletion syndrome have a deletion of a segment on one of the copies of chromosome 22. Although there is widespread interest in understanding the genotype-phenotype relationship in this complex genetic syndrome, few studies have been designed to provide objective delineation of the craniofacial phenotype of these patients. Yet understanding the genetic contribution to this phenotype will require better quantitative description of the craniofacial features. The purpose of this pilot study is two-fold. The primary aim is to address the question: (1) Can craniofacial anthropometric measurements provide an objective and specific description of craniofacial differences that are clinically observed in patients with chromosome 22q11 deletion? Traditionally, craniofacial measurements are taken by direct measurements (with calipers) on each patient. We now have the technology to take 3-dimensional photographs, upon which these craniofacial measurements can be obtained. Use of the 3dMD camera system allows for fast data collection and is less burdensome to the patients than direct measurements. Therefore, the second aim of this project is to address the question: (2) Is the 3dMD camera a reliable tool to obtain accurate craniofacial measurements? To address these aims, we will recruit 20 patients with the chromosome 22q11 deletion and 20 controls without the deletion. We will use calipers to perform 37 craniofacial anthropometric measurements on each participant. We will then take photographs of each person with the 3dMD camera and take the 37 measurements on the photographs. To determine unique patterns of craniofacial measurements in patients with 22q11 deletion syndrome, we will compare the facial measurements in our patients to a normative database.