Congenital craniofacial malformations: issues and perspectives

Congenital craniofacial malformations represent an extremely fascinating and complex set of biomedical problems. The complexity includes early detection, diagnosis, treatment, habilitation, and prevention. Genetic and environmental issues that appear to interact and result in congenital craniofacial malformations are becoming better understood. Advances in mouse and human immunogenetics now suggest several possible explanations for why some individuals acquire certain birth defects and others do not. Recent discoveries concerning the MHC and its association with a number of human birth defects have stimulated interesting speculations concerning genetic and environmental factors that might be responsible for predispositions to congenital malformations. Of particular interest is the possible function of the MHC of the mother during early stages of embryogenesis (the first trimester) and how this assembly of genes may infer susceptibility to environmentally induced birth defects in mouse and human reproduction. A number of environmental chemicals have been implicated in causing birth defects. A large amount of exciting information regarding the genetic regulation of certain drug-metabolizing enzymes (for example, the cytochrome P-450 system) has developed. Basic research and biotechnology continue to advance our appreciation for and knowledge of craniofacial development biology.