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the sutures of the infant brain |
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Welcome to the Clinical Genetics of Craniosynostosis Research Study
The Clinical Genetics of Cranosynostosis
- 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.
Study information and consent forms can be downloaded by clicking on the links to the left.
If you are interested in participating in this research or have questions, please
contact us at vkimonis@uci.edu.
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