CRANIOFACIAL FEATURES IN CHILDREN WITH CHROMOSOME 22Q11 DELETION SYNDROME

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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.