Craniosynostosis is a congenital defect of unknown cause in which one or more sutures the baby's head close partially totally earlier than normal, it has an incidence 1 1,000 to 3,000 live births, with higher prevalence males. The evolution this disease different each case and can be mild severe. They present symptoms such as: irritability inconsolable crying very little activity. As your skull...

Apert syndrome is almost always caused by a spontaneous mutation of paternal origin in one of two nucleotides in the fibroblast growth factor receptor 2 gene (FGFR2). The incidence of this disease increases with the age of the father (paternal age effect), and this increase is greater than what would be expected based on the greater number of germ-line divisions in older men. We use a highly se...

A full-term female baby was diagnosed as having Apert syndrome with craniosynostosis, hypertelorism, syndactyly, polydactyly, and cleft plate. At her first ophthalmic visit at 8 months old, she was noted to have bilateral exophthalmos with epiblepharon on her lower lids, exotropia, and right inferior oblique muscle overaction (IOOA) and manifested right dissociated vertical deviation (DVD). The...

INTRODUCTION Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. METHODS Members of two families with an index case of Apert Syndrome were assessed to de...

Fibroblast growth factors (FGF) are a family of ligands that bind to four different types of cell surface receptor entitled, FGFR1, FGFR2, FGFR3 and FGFR4. These receptors differ in their ligand binding affinity and tissue distribution. The prototypical receptor structure is that of an extracellular region comprising three immunoglobulin (Ig)-like domains, a hydrophobic transmembrane segment an...

It is thought that the affected chromosome is chromosome 10, and there are two main identified gene defects affecting fibroblast growth factor receptor 2 gene. The resultant abnormal receptor prevents apoptosis of cells, and so in the case of those affected by Apert syndrome, digits on both hands and feet may be fused. These fusions can be either cutaneous or bony. Receptors found in the craniu...