Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.

Isolated frontosphenoidal craniosynostosis (IFSC) is a rare congenital defect defined as premature fusion of the frontosphenoidal suture in the absence of other suture fusion. Until now, IFSC was regarded as a phenomenon with an unclear genetic etiology. We have identified three cases with IFSC with underlying syndromic diagnoses that were attributable to pathogenic mutations involving FGFR3 and MN1, as well as 22q11.2 deletion syndrome. These findings suggest a genetic predisposition to IFSC may exist, thereby justifying the recommendation for genetic evaluation and testing in this population. Furthermore, due to improved imaging resolution, cases of IFSC are now readily identified. With the identification of IFSC with underlying genetic diagnoses, in combination with significant improvements in imaging resolution, we recommend genetic evaluation in children with IFSC.

Case series of patients with ruptured abdominal aortic aneurysm.

INTRODUCTION: Traditionally, patients with suspected ruptured abdominal aortic aneurysm (rAAA) are taken immediately for operative repair. Computed tomography (CT) has been considered contraindicated. However, with the emergence of endovascular repair, this approach to suspected rAAA could be changing. METHODS: We present retrospective data in a case series of 110 patients with rAAA. Patients were managed at a single tertiary medical center over a five-year period. At this site, there was an established multidisciplinary protocol in which patients with suspected rAAA undergo CT with consideration for endovascular aortic repair (EVAR). RESULTS: Our results demonstrated a mortality of 30% with our institutional protocol for CT in suspected rAAA. Comparing patients who ultimately had EVAR with open repair, those able to have endovascular aneurysm repair (EVAR) had lower mortality, shorter hospital stays for survivors, and a greater likelihood of being discharged to home than those with open repair. While survivors were more likely to have had EVAR, surviving patients were younger, had a significantly lower creatinine at presentation, and required fewer blood transfusions than those who died. CONCLUSION: Based on this case series, an institutional approach endorsing CT for presumed rAAA appears to be reasonable. Our results suggest that EVAR may be beneficial in appropriately-selected patients and that CT may potentially facilitate superior management options for patient care.