The overall goal of the Clinical Core II is to determine genetic factors involved in normal human craniofacial development and identify both genetic and environmental risk factors for isolated, familial, or syndromic craniosynostosis. Towards this goal, we will construct a clinical database of individuals affected with craniosynostosis in the greater Baltimore area. This database will include information on the phenotype, diagnosis, and classification of these individuals. Patients condition will be classified as sporadic or familial, isolated or syndromic (and whether the syndrome is recognized or previously unknown) and if due to deformation. Using this data, patients can then be triaged for further studies, such as detailed questionnaires of environmental factors, chromosomal and molecular DNA analysis. The database will be used by Projects I, II, IV, and V of this Center, in order to correlate genotypes with phenotypes and environmental factors, develop accurate diagnostic criteria, and map and clone genes responsible for isolated, familial, and syndromatic craniosynostosis. Blood and tissue specimens will be obtained at the time of evaluation for analysis in Projects I, III, IV, and V. To implement this project 1) patients with craniosynostosis and their families will be ascertained and enrolled, 2) medical histories, clinical examinations and 3D CT scan will be performed and all information entered into the database, and 3) blood samples will be obtained for chromosome analysis. DNA isolation, and establishment of a lymphoblast cell line for future analysis. We will utilize the resources of the Johns Hopkins Medical Institutions Cleft and Craniofacial Research Center, Center for Medical Genetics, Pediatric Clinical Research Center, General Clinical Research Center, and the University of Maryland's Interdisciplinary Craniofacial Center for clinical examination and diagnostic testing. The Johns Hopkins Genetic Core of the Mental Retardation Research Center will perform chromosomal analyses on syndromic patients. The epidemiologic and molecular DNA analysis will identify environmental risk factors and isolate and characterize genes essential in craniofacial development and craniosynostosis.
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