Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common CS phenotype. Previous genome-wide association and targeted sequencing analyses of sNCS have identified multiple associated loci, with the strongest association on chromosome 20. Herein, we report the first whole-genome sequencing study of sNCS using 63 proband-parent trios. Sequencing data for these trios were analyzed using the transmission disequilibrium test (TDT) and rare variant TDT (rvTDT) to identify high-risk rare gene variants. Sequencing data were also examined for copy number variants (CNVs) and de novo variants. TDT analysis identified a highly significant locus at 20p12.3, localized to the intergenic region between BMP2 and the noncoding RNA gene LINC01428. Three variants (rs6054763, rs6054764, rs932517) were identified as potential causal variants due to their probability of being transcription factor binding sites, deleterious combined annotation dependent depletion scores, and high minor allele enrichment in probands. Morphometric analysis of cranial vault shape in an unaffected cohort validated the effect of these three single nucleotide variants (SNVs) on dolichocephaly. No genome-wide significant rare variants, de novo loci, or CNVs were identified. Future efforts to identify risk variants for sNCS should include sequencing of larger and more diverse population samples and increased omics analyses, such as RNA-seq and ATAC-seq.

Sagittal suture synostosis is one of the most common craniosynostoses and is often diagnosed by characteristic narrow and long skull shape, scaphocephaly. However, some patients with sagittal suture synostosis do not present with typical scaphocephaly, making early diagnosis difficult. In this study, five cases of characteristic skull deformity showing a narrowing of the cranium posterior to the coronal suture on computed tomography (CT) are presented. The three older children presented with papilledema and intellectual disability and a closed sagittal suture on CT. The two infant cases were diagnosed with the characteristic cranial deformities with aggravation of the deformity over time, but sagittal suture closure was not evident on CT. All patients underwent cranial remodeling surgery. In the two infant cases, the histopathological findings showed that the anterior part of the sagittal suture was firmly fused with fibrous tissue without bony fusion. These findings suggested that narrowing of the cranium posterior to the coronal suture might be due to functional fusion of the anterior portion of the sagittal suture prior to bony fusion. In an infant presenting with such a deformity that shows aggravation of the deformity over time, surgical treatment should be considered.

OBJECTIVE: Vertex epidural hematoma (VEDH) is a relatively uncommon type of intracranial hematoma. Because of its unique location and the potential of massive intraoperative bleeding, diagnosis and surgical intervention of VEDH may be challenging.
METHODS: A retrospective analysis of 32 patients with VEDH was undertaken to investigate the prognostic factor and therapeutic strategy of VEDH. Special attention was paid to the relationship between fracture pattern, surgical method, intraoperative blood loss and outcome.
RESULTS: Patients treated surgically had a higher percentage of consciousness disturbance and a significantly larger size of VEDH compared with patients treated conservatively (p = 0.029 and p < 0.0001, respectively). Bleeding from the injured superior sagittal sinus (SSS) was noted in six of nine patients (67%) with a linear fracture parallel to the SSS. Only one patient (20%) with a linear fracture crossing the SSS had bleeding from the injured SSS. Five of eight patients (63%) with sagittal suture diastasis experienced bleeding from the SSS. All patients with massive blood loss and six of seven patients developing intraoperative shock had copious bleeding from the injured SSS. All patients with intraoperative massive bleeding and shock underwent traditional \"simple craniotomy\". No patients undergoing \"strip craniotomy\" experienced massive bleeding. Thrombocytopenia (p = 0.008), headache (p = 0.015), consciousness disturbance (p = 0.043), pupil reactivity (p = 0.010), GCS score (p < 0.0001) and the relationship between skull fracture and the SSS (p = 0.037) were significant prognostic factors.
CONCLUSIONS: Our study demonstrated GCS score may be a significant prognostic factor in patients with VEDH. Bleeding from the injured SSS occurred frequently in VEDH patients with a linear skull fracture parallel to the SSS or sagittal suture diastasis and could cause devastating hemorrhage. When operating on such patients, the surgical team should prepare for the possibility of massive blood loss and intraoperative shock. Bilateral parasagittal craniotomies with preservation of a central bone strip containing the sagittal suture (strip craniotomy) to allow application of tack-up sutures from the dura to the bone strip may be more suitable for VEDH evacuation.

The objective of this literature review was to provide a comprehensive and up-to-date overview of the current understanding of the genetic etiology for non-syndromic sagittal craniosynostosis.
Using the PubMed database and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), we systematically reviewed relevant records on germline genetics in children with non-syndromic sagittal craniosynostosis.
Two hundred two records were identified, of which 25 were included following title and abstract screening and subsequent full-text review. The 25 records in combination included 829 children with non-syndromic sagittal craniosynostosis. A likely pathogenic or pathogenic germline variant was reported for 9.8% of the 827 patients for whom germline genetic testing was performed. The reported variants were distributed across 50 different genes, with more than one variant detected in 13 genes.
Based on the existing literature, genetic predisposition is likely to play a role in at least 9% of children with non-syndromic sagittal craniosynostosis. Future studies will benefit from international consensus in terms of diagnostic nomenclature and a higher level of standardization across study methodologies and bioinformatic approaches.

This paper describes a unique case of craniosynostosis in a female skull in which sagittal sutures were completely fused by adolescence. Despite sagittal synostosis, the skull was of normal shape and size. Regarding craniometric features, the synostotic normocephalic skull was markedly different than that of scaphocephalic skulls which typically result from premature obliteration of the sagittal suture.

While many centers nowadays offer minimally invasive techniques for the treatment of single suture synostosis, surgical techniques and patient management vary significantly. We provide an overview of how scaphocephaly treated with endoscopic techniques is managed in the reported series and analyze the crucial steps that need to be dealt with during the management process. We performed a review of the published literature including all articles that examined sagittal-suture synostosis treated with endoscopic techniques as part of single- or multicenter studies. Fourteen studies reporting results of 885 patients were included. We identified 5 key steps in the management of patients. A total of 188 patients were female and 537 male (sex was only specified in 10 articles, for 725 included patients, respectively). Median age at surgery was between 2.6 and 3.9 months with a total range from 1.5 to 7.0 months. Preoperative diagnostics included clinical and ophthalmologic examinations as well as neuropsychological and genetic consultations if needed. In 5 publications, a CT scan was routinely performed. Several groups used anthropometric measurements, mostly the cephalic index. All groups analyzed equally recommended to perform endoscopically assisted craniosynostosis surgery with postoperative helmet therapy in children < 3 months of age, at least for non-syndromic cases. There exist significant variations in surgical techniques and patient management for children treated endoscopically for single suture sagittal synostosis. This heterogeneity constitutes a major problem in terms of comparability between different strategies.

Scaphocephaly (SC) is defined as an elongation of the anteroposterior axis of the skull resulting from the abnormal fusion of the sagittal suture. This study describes the \"Peau d\'ours\" technique and results for correcting SC. We conducted a consecutive and retrospective analysis of patients treated from 2011 to 2016. We evaluated the gender, age, and surgical outcomes. A total of 53 patients were enrolled with a mean age of 19 months old. The advantages of this technique are healthy coronal and lambdoid suture preservation and symmetrical parietal bone flap opening. This technique is safe and simple to reproduce, allowing good surgical outcomes with a low incidence of secondary craniosynostosis. This technique is ideal for patients older than six months old.

BACKGROUND: This study aimed to investigate the incidence, number, diameter, and relative location of the parietal foramen (PF) as well as communication of intracranial and extracranial orifices and their direction, and sagittal suture morphology and length.
METHODS: A total of 280 dry Chinese adult skull specimens from the Department of Anatomy, Southern Medical University, were observed and measured. The occurrence rate and quantity of the PF near the sagittal suture were recorded. The aperture of the PF, the vertical distance between PF and sagittal suture, and the linear distance between PF and lambda were measured using a Vernier calliper. The length of the sagittal suture was measured by a flexible ruler; the direction and communication of intracranial and extracranial orifices were detected using a probe.
RESULTS: The total incidence of the PF was 82.86%, slightly higher on the right side than on the left side. The single-foramen type was the most prevalent. The mean diameter of the PF on the left and right sides were 1.02 ± 0.72 mm and 1.07 ± 0.67 mm, respectively, and the diameter of the PF on the sagittal suture was 1.77 ± 0.44 mm. The mean vertical distance between the PF and the sagittal suture was 5.90 ± 2.78 mm and 5.85 ± 2.75 mm on the left and right sides, respectively. The shape of the sagittal suture in the PF area was primarily dentate shaped, with an average arc length of χ = 124.36 ± 7.76 mm, of which the majority were completely healed type. The intracranial and extracranial communication was 39.97%, and the majority of the PF were anteromedial direction.
CONCLUSIONS: The current study provided an anatomical basis for imaging diagnosis and neurosurgery by investigating the incidence, diameter, and relative location of the PF and intracranial and extracranial communication and direction.

Age assessment at the time of death is of great importance when an unidentified skeleton or corpse is found. Obliteration of cranial sutures has been used for age assessment regarding anthropology as non - metrical method of direct bone inspection. The aim of our study was to assess sagittal suture closure in the contemporary population of Polish men using postmortem computed tomography. A total of 255 male skulls were analyzed with the use of multiplanar reconstruction (MPR) and volume rendering technique (VRT) images, which were based on whole-body postmortem computed tomography scans. The individuals of Polish origin were of precisely known metrical age. The sagittal sutures were analyzed across their entire thickness (including both the outer and inner aspect of bone) and along their entire length via frontal sections, using the sagittal suture division into 4 segments. This study showed that the earliest signs of suture closure occur in S4 on the inner side of the calvaria at a mean age of 50.48 years, but the youngest person with starting obliteration process was 13.37 years. This is prove that exist variability which must be count during biological age estimation. Additionally, VRT visualisation shows that the fourth state of obliteration does not mean that obliteration was ended. Further analyses of cranial suture closure are needed to obtain reliable methods for postmortem estimation of the age at the time of death in contemporary populations. The use of postmortem computed tomography may offer additional opportunities for contemporary analysis of skeletal material.

Isolated nonsyndromic sagittal synostosis (SS) is the most common form of craniosynostosis in children, accounting for approximately 60% of all craniosynostoses. The typical cranial measurement used to define and follow SS is the cephalic index (CI). Several surgical techniques have been suggested, but agreement on type and timing of surgery is lacking. This study aimed to evaluate the authors\' institutional experience of surgically treating SS using a modified subtotal cranial vault remodeling technique in a population-based cohort. Special attention was directed toward the effect of patient age at time of surgery on long-term CI outcome.
A retrospective analysis was conducted on all patients with isolated nonsyndromic SS who were surgically treated from 2003 to 2011. Data from electronic medical records were gathered. Eighty-two patients with SS were identified, 77 fulfilled inclusion criteria, and 72 had sufficient follow-up data and were included. CI during follow-up after surgery was investigated with ANOVA and a linear mixed model.
In total, 72 patients were analyzed, consisting of 16 females (22%) and 56 males (78%). The mean ± SD age at surgery was 4.1 ± 3.1 months. Blood transfusions were received by 81% of patients (26% intraoperatively, 64% postoperatively, 9% both). The mean ± SD time in the pediatric ICU was 1.1 ± 0.25 days, and the mean ± SD total hospital length of stay was 4.6 ± 2.0 days. No patient required reoperation. The mean ± SD CI increased from 69 ± 3 to 87 ± 5 for patients who underwent surgery before 45 days of age. Surgery resulted in a larger increase in CI for patients who underwent surgery at a younger age compared with older patients (p < 0.05, Tukey\'s HSD test). In the comparison of patients who underwent surgery before 45 days of age with patients who underwent surgery at 45-90, 90-180, and more than 180 days of age, the linear mixed model estimated a long-term loss of CI of 3.0, 5.5, and 7.4 points, respectively.
The modified subtotal cranial vault remodeling technique used in this study significantly improved CI in patients with SS. The best results were achieved when surgery was performed early in life.