Craniofacial morphology as a marker of predisposition to isolated cleft palate

The etiology and pathogenesis of isolated cleft palate (CP) is largely unknown. Undoubtedly, bot genetic and environmental factors play a role in initiating this malformation. Although the predictions of the multifactorial threshold model have never been satisfied when subjected to statistical analysis, there is no a priori reason to dismiss the possibility that multiple genes may be segregating in CP families that give rise to specific and predictive phenotypes in the parents of CP offspring. We examined a sample composed of 52 parent pairs whose children were born with CP, as well as 75 normal controls with no family history of CP. Using anthropometric and roentgencephalometric methods, along with discriminant function analysis, we searched for craniofacial variables predictive of parents who were ¿at risk¿ for CP offspring. For fathers of CP children, 32 of the studied variables differed significantly from controls; for mothers of CP children 25 variables differed significantly from controls. These results support the hypothesis that there are characteristic morphometric signs in the craniofacies of the parents of children with CP. To confirm these findings, it will be necessary to prospectively ascertain the incidence of CP in the offspring of ¿at risk¿ parents and ¿not at risk¿ parents from families with and without a history of CP in other family members.