الفهرس 
Structure of the cranial sutureOnly 14 pages are availabe for public view
 |  | from | 279 |  |  |
| | | from | 279 | | |
Abstract
Gene mutations causing several craniosynostosis syndromes have been identified in the last decade. We undertook this prospective, controlled study to evaluate the incidence of FGFR3 P250A mutation in patients with craniosynostosis. In this mutation the gene coding for Fibroblast growth factor receptor 3 (FGFR3) has a single nucleotide substitution C→G at position 749 of the gene leading to substitution of proline amino acid by arginine at position 250 of the resulting protein receptor (C749G; Pro250Arg). This mutation is proven to enhance the receptor binding to FGFs which ultimately lead to exaggeration of the normal function of this receptor in suture morphogenesis and induces its premature closure. The mutation incidence was tested in a cohort of 23 consecutive cases of craniosynostosis treated at the South West Craniofacial Center, Phoenix, Airzona, USA. Furthermore we aimed to test the hypothesis that the synostotic sutures in patients harboring the mutation have a different biological behavior than those who don’t. So we assumed that those patients have a peculiar clinical and radiological presentation, operative findings, and postoperative cosmetic and functional outcomes. We tested the presence or absence of the mutation against several preoperative clinical, radiological features, intraoperative blood loss, degree of calvarial-dural adhesions and postoperative cosmetic and functional outcome parameters to prove or disprove the original hypothesis. 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. Patients harboring the mutation were found to have a distinct preoperative accentuation of the temporal bulge, tendency to lose more blood intraoperatively and probably worse long term aesthetic outcome.