CEPHALOMETRIC EVIDENCE FOR A DOMINANTLY INHERITED PREDISPOSITION TO CLEFT LIP-CLEFT PALATE IN A SINGLE LARGE KINDRED

Several studies have demonstrated an association between facial shape in parents and the presence of oral clefts in their offspring. However , these observations have been of little practical value because it ha s been assumed that facial shape was just one predisposing component a mong many in a multifactorial model of inheritance. Cephalometric anal ysis of a large family with 5 generations of affected individuals sugg ests that facial shape can be used to identify presumed carriers of a major gene associated with an increased risk for oral clefts. Discrimi nant function analysis indicates that such at risk individuals can be recognized effectively through a combination of increased midfacial an d nasal cavity widths, reduced facial height, and a flat facial profil e. The ability to identify minimally affected gene carriers within fam ilies would provide critical information needed in the search for mole cular markers that segregate with the genetic risk for clefting. (C) 1 994 Wiley-Liss, Inc.