HM Luk, IFM Lo, TMF Tong, STS Lam

Abstract

Craniofrontonasal dysplasia (CFND) is a rare X-linked developmental malformation syndrome characterised by frontonasal dysplasia and coronal craniosynostosis. We have reported two Chinese cases of CFND, one isolated and the other familial. By reviewing the literature, the clinical features and the mechanism underlying the "genetic paradox" were discussed. It is hoped that with better understanding of the pathogenesis and application of EFNB1 gene analysis, CFND can be better recognised, which in turn not only improves the management but is also important for genetic counselling.