Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomalies.

摘要

Orofacial clefts comprise a large fraction of all human birth defects, affecting approximately one in every 500-1,000 births worldwide, and are notable for their significant lifelong morbidity and complex etiology [Murray, 2002; Cox, 2004]. The clinical manifestations of these defects are diverse, ranging from isolated clefts of the lip to complete bilateral clefts of the lip, alveolus and palate [Fogh-Andersen, 1942]. It has been proposed that clefting is part of a complex malformation that can be associated with dental anomalies resulting from the disturbed development of the dentition [Stahl et al., 2006]. In that context, we have shown that dental anomalies outside the cleft area could be used as additional features for the generation of more sophisticated cleft subphenotypes [Letra et al., 2007].