title: Craniosynostosis and Guanine Nucleotide-binding Protein Alpha Stimulating Mutation: Risk of Bleeding Diathesis and Circulatory Collapse in Patients Undergoing Cranial Vault Reconstruction.
abstract: Reconstruction of the craniosynostosis deformity is a relatively safe operation with low overall complication risks. Despite expected risk of significant blood loss, life-threatening bleeding is relatively rare, and there is a low incidence of reported deaths in the literature. Several modalities have been described for perioperative mitigation of blood loss and transfusion requirements. Due to the low overall risk of life-threatening bleeding and circulatory collapse, it is judicious that any potential causes of such unusual but potentially significant fatal bleeding complication be evaluated and reported to increase awareness for craniofacial surgeons treating these conditions. In this report and literature review, the authors present a highly unusual patient with significant bone bleeding and circulatory collapse in a metopic craniosynostosis patient with guanine nucleotide-binding protein alpha stimulating (GNAS) mutation; perform a literature review regarding bleeding diathesis in craniosynostosis patients with GNAS mutations; and suggest guidelines to potentially prevent mortality in such patients.
authors.affiliation: *Division of Plastic Surgery, Pediatric Plastic Surgery, Albany Medical Center, Albany NY †The Craniofacial Center, Dallas, TX.
authors.forename: Oluwaseun A
authors.initials: OA
authors.lastname: Adetayo
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Fearon
mesh_terms: D002864:Chromogranins / Q000235:genetics*; D003398:Craniosynostoses / Q000601:surgery*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006474:Hemorrhagic Disorders / Q000235:genetics / Q000517:prevention & control; D006801:Humans; D007223:Infant; D009154:Mutation; D012769:Shock / Q000209:etiology / Q000517:prevention & control
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs