The authors provide the case of a 6-year-old male who presented late with multi-suture craniosynostosis and chronically elevated intracranial pressures (ICPs). He was surgically managed with frontal orbital advancement. This particular case illustrates the significant bleeding and unique bony pathology that can occur in patients with high ICP with concomitant venous collateralization. At 1-month follow-up, he demonstrated significant improvement with maintained expansion and no signs of elevated ICP despite delayed intervention. Frontal orbital advancement serves as an effective method for cranial vault expansion and correction of frontal deformities caused by craniosynostosis.
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http://dx.doi.org/10.1097/SCS.0000000000007888 | DOI Listing |
J Craniofac Surg
January 2025
Department of Medicine and Surgery, Università degli Studi di Milano-Bicocca.
Cranioplasty is a major surgical procedure typically performed in children under 1 year of age, often associated with significant complications. The scientific literature on perioperative management for children with craniosynostosis undergoing cranioplasty is limited. The authors' objective was to retrospectively evaluate the management, complication rates, and outcomes among children undergoing cranioplasty at our institution.
View Article and Find Full Text PDFThe calvarial bones of the infant skull are connected by transient fibrous joints known as sutures and fontanelles, which are essential for reshaping during birth and postnatal growth. Genetic disorders such as Apert, Pfeiffer, Crouzon, and Bent bone dysplasia linked to variants often exhibit multi-suture craniosynostosis and a persistently open anterior fontanelle (AF). This study leverages mouse genetics and single-cell transcriptomics to determine how regulates closure of the AF closure and its transformation into the frontal suture during postnatal development.
View Article and Find Full Text PDFEur J Hum Genet
July 2024
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Carpenter syndrome (CRPTS) is a rare autosomal recessive condition caused by biallelic variants in genes that encode negative regulators of hedgehog signalling (RAB23 [CRPT1] or, more rarely, MEGF8 [CRPT2]), and is characterised by craniosynostosis, polysyndactyly, and other congenital abnormalities. We describe a further six families comprising eight individuals with MEGF8-associated CRPT2, increasing the total number of reported cases to fifteen, and refine the phenotype of CRPT2 compared to CRPT1. The core features of craniosynostosis, polysyndactyly and (in males) cryptorchidism are almost universal in both CRPT1 and CRPT2.
View Article and Find Full Text PDFChilds Nerv Syst
November 2023
Division of Plastic, Reconstructive and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Purpose: Oxycephaly is a specific phenotype of multi-suture craniosynostosis that is often misrepresented. This study aims to review the relevant literature, clarify the diagnostic criteria, and present an alternate approach to its management.
Methods: Published literature regarding oxycephaly was reviewed from 1997, when the largest series was published, until 2022.
Childs Nerv Syst
January 2024
Department of Neurosurgery, Naval Medical Center San Diego, San Diego, CA, USA.
Purpose: Understanding the complication profile of craniosynostosis surgery is important, yet little is known about complication co-occurrence in syndromic children after multi-suture craniosynostosis surgery. We examined concurrent perioperative complications and predictive factors in this population.
Methods: In this retrospective cohort study, children with syndromic diagnoses and multi-suture involvement who underwent craniosynostosis surgery in 2012-2020 were identified from the National Surgical Quality Improvement Program-Pediatric database.
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