Genetics of craniofacial disorders.
Due to the many recent and complementary advances in developmental biology and molecular genetics, we are learning much about the genetics of craniofacial disorders. In particular there is new information regarding craniosynostosis and orofacial clefting, which are among the more common birth defects. The pathogenesis of craniosynostosis, as well as the newest developments in the study of the common craniosynostotic syndromes, is discussed in this review. Genes and chromosomal regions implicated in orofacial clefting are reviewed. Lastly, insights are given into the pathogenesis of common craniofacial malformations as provided by animal models of human disease.
Johns Hopkins University School of Medicine, Baltimore, Maryland.
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Lewanda
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Jabs
D000013:Congenital Abnormalities / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006801:Humans; D012886:Skull / Q000002:abnormalities*