The overall goal of the Clinical Core is to be the organizational structure to collate information and specimens on patients with craniosynostosis and oral clefting and associated dental and facial anomalies. Patients will participate in our research projects from the Mid-Atlantic (Maryland, Washington D.C., Virginia) and Midwest (Missouri) REGIONS OF THE United States, Denmark, Czech Republic, Mexico, and Argentina. Databases will include information on phenotype, diagnosis, and classification of these individuals. The condition of the patient will be classified as sporadic or familial, isolated or syndromic (and whether the syndrome is recognized or previously unknown), or environmental in origin. Salient medical, surgical, dental, and family history information will be retained in the database. 3D CAT and brain morphology scans will also be entered into the database for patients with craniosynostosis. Using this data, patients will be triaged for future studies, such as chromosomal analysis, molecular DNA analysis, questionnaire of environmental factors, and behavioral analysis. The database will be used by Projects V, VI, VII, and VIII of this Center, in order to correlate genotypes with phenotypes, environmental, and behavioral factors, develop accurate diagnostic criteria, and map and clone genes responsible for isolated, familial, and syndromic craniosynostosis and multiplex families with oral clefting. To implement this project 1) patients with craniosynostosis or oral clefting and their families will be ascertained and enrolled, 2) medical and family histories and radiology test results will be entered into the database, and 3) blood samples will be obtained for chromosome analysis, DNA isolation, and establishment of a lymphoblast cell line and potential other tissue cell lines from surgical specimens for future analysis. Outpatient clinics through the Johns Hopkins Cleft & Craniofacial Center, the Johns Hopkins Division of Dentistry and Oral & Maxillofacial Surgery, the Center for Medical Genetics in Rockville, Maryland, the University of Maryland Medical Center and Virginia Commonwealth University's School of Dentistry and Center for Facial Reconstruction will be utilized to recruit patients for these research projects. The collaborative research efforts will identify, isolate and characterize genetic, environmental, and behavioral factors essential in craniofacial development.
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