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Craniosynostosis Research Study

Welcome to the Clinical Genetics of Craniosynostosis Research Study.

We are currently recruiting families with a child with craniosynostosis (premature closure of the cranial sutures).

Craniosynostosis, the premature fusion of one or more skull sutures, is a variable condition occuring in one out of 2,000 live births. This research is being done to find out what causes defects of the face and the skull that occurred prior to birth. Studies of family members who do not have such abnormalities will aid in determining which factors may or may not be related to these problems. The researchers will perform genetic studies to identify genes associated with craniosynostosis.

The research procedure involves blood drawing, cheek (buccal) swabs or mouthwash for DNA sampling, physical examination and measurements, review of medical records and digital photographs.

The only forseeable discomfort associated with the study is the invasion of your privacy. There are no direct benefits from participation in the study. However, this study may explain the cause of your child's craniosynostosis in some cases which may allow for a better description of the syndrome and genetic counseling. Benefits for society are potentially great if the scientific and health communities gain information about the syndrome genes, their function as they relate to normal craniofacial development, and the pathogenesis of these conditions.

If you are interested in participating in this research or have questions, please contact us at vkimonis@uci.edu.