Abstract for presentation at 11th International Congress of Human Genetics

The craniosynostoses are etiologically and pathogenetically heterogeneous. Premature closure of cranial sutures may occur as isolated condition or associated with other anomalies. Almost 100 syndromes are known (Gorlin et al, 1990 ; Cohen and McLean, 2000). The most exhaustive review is that of Cohen and McLean (2000). Sagittal synostosis is the most common type. Coronal suture occurs less frequently. Most cases of isolated craniosynostosis are sporadic. Associated anomalies are more frequent in coronal than sagittal sutures. Most common anomalies are limb defects, ear anomalies and cardiovascular malformations. Paternal origin of sporadic FGFR mutations is suggested. (Jones et al, 1975 ; Moloney et al, 1996 ; Glaser et al, 2000).
A literature review including genetic epidemiology , genes responsible for craniosynostosis , Fibroblast Growth Factor Receptor (FGFR) Mutations, clinical / genetic evaluation and a gallery of craniosynostosis syndromes : Crouzon, Apert, Pfeiffer, Saethre – Chotzen, Cole – Carpenter, Kleeblatschadel, Antley-Bixley like and nonsyndromic craniosynostoses will be presented.