الفهرس | Only 14 pages are availabe for public view |
Abstract We have explored the clinical utility of one of the recent craniosynostosis genetic probes from the surgeon’s perspective rather than the pure academic perspective. Transmission of this knowledge from the laboratory bench to the bed side is an attempt to find or prove already found clinical and radiological correlates to one of the well know mutations in craniosynostosis patients. Moreover, we tied this to the expected intra-operative hurdles, and postoperative outcome. We propose a modification in the classification of the clinical spectrum of coronal craniosynostosis to include a third category with distinct features from the previously described isolated and syndromic forms. This third category is identified by positive testing for the FGFR3 P250A mutation in patients with apparently isolated coronal synostosis. A proposed explanation for the differences between the three categories is presented. Doing this, we aimed at making molecular screening for craniosynostosis a handy tool in the armamentarium of neurosurgeons and craniofacial surgeons aiding diagnosis, operative planning and patient counseling. |