August 25, 1998

It was a pleasure speaking with you on the phone today.  As we discussed, the molecular testing performed on Benjamin and Shauna's DNA was unable to identify a mutation in their fibroblast growth receptor 3 genes (FBGR3).    Therefore, the exact cause of their sagittal synostosis remains undetermined. 

Based on your family history of having two affected children, the recurrence risk for you to have another child with sagittal sysnostosis remains as high as 50%.    Currently, there is genetic research ongoing to try and determine additional information about the genetics of non-syndromic craniosynostosis.  Since genetics is a fast moving field where new developments are continually being made, we would suggest that Benjamin and Shauna return for genetic couselling, for an update, prior to planning families of their own.

We encourage you to keep in touch with our department regarding advances in the molecular testing for non-syndromic craniosysnostosis.  Please feel free to call us at the number below if you have any questions or concerns.

Wishing you all the best.

Sincerely,

Shelley J. Kennedy, M.Sc; Genetic Counsellor