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Hughes C.,Oxford Radcliffe Hospital Trust | Thomas K.,Oxford Radcliffe Hospital Trust | Johnson D.,Oxford Craniofacial Unit | Das S.,Oxford Radcliffe Hospital Trust | Das S.,Oxford Craniofacial Unit
Paediatric Anaesthesia | Year: 2013

The management of children with craniosynostosis is multidisciplinary and has evolved significantly over the past five decades. The treatment is primarily surgical. The anesthetic challenges continue to be the management of massive blood transfusion and prolonged anesthesia in small children, often further complicated by syndrome-specific issues. This two-part review aims to provide an overview of the anesthetic considerations for these children. The first part described the syndromes associated with craniosynostosis, the provision of services in the UK, surgical techniques, preoperative issues and induction and maintenance of anesthesia. This second part will explore hemorrhage control, the use of blood products, metabolic disturbance and postoperative issues. © 2012 Blackwell Publishing Ltd. Source

Woods R.H.,Oxford Craniofacial Unit | Johnson D.,Oxford Craniofacial Unit
Journal of Craniofacial Surgery | Year: 2010

Improved accessibility to supraregional centers in the United Kingdom has led to an increased referral of minor craniofacial anomalies. We have recognized a group of patients referred with absence of the anterior fontanelle and possible associated craniosynostosis. The aim of this study was to assess the group of patients in which the anterior fontanelle was entirely replaced by a single bone, examining associations, relationship to craniosynostosis, and prognostic implications.Eleven patients had fontanellar bones replacing the anterior fontanelle on computed tomographic imaging in the 3-year study period. Five were referred solely because of absence of the anterior fontanelle; and the remainder, because of concern of concomitant craniosynostosis. Five children had associated craniosynostosis (sagittal synostosis, 3; metopic synostosis, 1; and bicoronal synostosis, 1), 1 had acrocallosal syndrome, and 5 had no other craniofacial abnormalities. The patient group with craniosynostosis have been managed in line with the unit protocol and have good early postoperative results (mean postoperative follow-up, 9.4 mo). The 5 patients who had an anterior fontanellar bone as an isolated finding were observed and have developed normally with a mean follow-up of 2 years 1.4 months (range, 8 mo to 3 y 4 mo).Replacement of the anterior fontanelle with a fontanellar bone is an uncommon finding, often associated with craniosynostosis. Cases with craniosynostosis can be treated in line with unit protocols. Isolated anterior fontanellar bones can be managed conservatively without adverse impact on the child. Copyright © 2010 by Mutaz B. Habal. Source

Eley K.A.,Oxford Craniofacial Unit
Journal of Craniofacial Surgery | Year: 2016

ABSTRACT: The squamosal suture is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones. While the phenotypic appearances and sequelae of synostosis of the major cranial vault sutures are well documented, little is reported concerning synostosis of the squamosal suture (SQS). The aim of this study was to determine the frequency of squamosal suture synostosis, and to document the significance of this entity.A retrospective review of the diagnostic imaging for all new pediatric patients (aged ≤16 years) referred to the Oxford Craniofacial Unit between January 2008 and February 2013 was completed to identify patients with SQS. Computed tomography (CT) imaging was available in 422 patients and the axial and three-dimensional reconstructed images reviewed.Squamosal suture synostosis was confirmed in 38 patients (9%). It was present in conjunction with major suture synostosis in 33 patients and in isolation in 5. The incidence increased with age. It was more common in patients with syndromic craniosynostosis (18%) and associated syndromic conditions (36%) than in those with isolated major suture synostosis (6%). It was found to occur with coronal, lambdoid, and sagittal synostosis, but was most frequent with multisuture fusion patterns. Squamosal suture synostosis was not associated with a consistent calvarial deformity either in isolation or when associated with a major suture fusion. No patient underwent surgery specifically to correct SQS.In conclusion, contrary to previous reports, squamosal suture synostosis is a relatively frequent finding in the general case mix of a typical craniofacial unit, but is of limited clinical significance. © 2016 by Mutaz B. Habal, MD. Source

Bochukova E.G.,Weatherall Institute of Molecular Medicine | Bochukova E.G.,University of Cambridge | Soneji S.,Weatherall Institute of Molecular Medicine | Wall S.A.,Oxford Craniofacial Unit | And 2 more authors.
Journal of Medical Genetics | Year: 2010

Background: Craniosynostosis can be caused by both genetic and environmental factors, the relative contributions of which vary between patients. Genetic testing identifies a pathogenic mutation or chromosomal abnormality in ∼21% of cases, but it is likely that further causative mutations remain to be discovered. Objective: To identify a shared signature of genetically determined craniosynostosis by comparing the expression patterns in three monogenic syndromes with a control group of patients with non-syndromic sagittal synostosis. Methods: Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre - Chotzen syndrome (various mutations in TWIST1) and nonsyndromic sagittal synostosis (no mutation detected) were cultured. The relative expression of ∼47 000 transcripts was quantified on Affymetrix arrays. Results: 435, 45 and 46 transcripts were identified in the Apert, Muenke and Saethre - Chotzen groups, respectively, that differed significantly from the controls. Forty-six of these transcripts were shared between two or more syndromes and, in all but one instance, showed the same direction of altered expression level compared with controls. Pathway analysis showed over-representation of the shared transcripts in core modules involving cell-to-cell communication and signal transduction. Individual samples from the Apert syndrome cases could be reliably distinguished from nonsyndromic samples based on the gene expression profile, but this was not possible for samples from patients with Muenke and Saethre - Chotzen syndromes. Conclusions: Common modules of altered gene expression shared by genetically distinct forms of craniosynostosis were identified. Although the expression profiles cannot currently be used to classify individual patients, this may be overcome by using more sensitive assays and sampling additional tissues. Source

Johnson D.,Oxford Craniofacial Unit | Wilkie A.O.M.,Oxford Craniofacial Unit | Wilkie A.O.M.,Weatherall Institute of Molecular Medicine
European Journal of Human Genetics | Year: 2011

Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management. © 2011 Macmillan Publishers Limited All rights reserved. Source

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