Craniofacial anomalies: from genetic mutations through development to disease and treatment

Genetic Mutations that Cause Coronary Artery Disease

Mutations affecting craniofacial development in zebrafish.

In a large-scale screen for mutations affecting embryogenesis in zebrafish, we identified 48 mutations in 34 genetic loci specifically affecting craniofacial development. Mutants were analyzed for abnormalities in the cartilaginous head skeleton. Further, the expression of marker genes was studied to investigate potential abnormalities in mutant rhombencephalon, neural crest, and pharyngeal end...

Chapter 16 : Craniofacial anomalies

The term craniofacial anomalies literally encompasses all congenital deformities of the cranium and face. More specifically, however, the term has come to imply congenital deformities of the head that interfere with physical and mental well-being (Marsh and Vannier, 1985). There are practically no epidemiological studies of craniofacial malformations as such. Myrianthopoulos (1982) reviewed dat...

Common craniofacial anomalies: conditions of craniofacial atrophy/hypoplasia and neoplasia.

The spectrum of craniofacial malformations includes conditions of congenital and acquired etiology. The conditions of craniofacial atrophy and hypoplasia may arise primarily or secondary to previous therapeutic interventions. The conditions of progressive hemifacial atrophy (Romberg disease) and radiation-induced hypoplasia will be reviewed on the basis of their etiology, pathogenesis, anatomy,...

Global registry and database on craniofacial anomalies Report of a WHO Registry Meeting on Craniofacial Anomalies