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Abstract 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.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: A reasonably correct estimation of age in elderly people is essential in legal, medical, social and administrative matters. Skulls are usually well preserved in decomposed, mutilated state or in fragmentary bodies. Sagittal suture has a very wide range of fusion. The aim of this study is to collect data of sagittal suture fusion of male and female and comparing with each other, so the more appropriate estimation of age can occur by including sexual dimorphism of sagittal sutural fusion. Material and Methods: This study was conducted in 100 autopsy cases of Department of Forensic Medicine, S.M.S. Medical College & Attached Hospital, Jaipur of aged between 20 to 70 yrs, With making group of male and female for each year of age. The obliteration of the sutures was ascertained endocranially as well as ectocranially. The Sagittal suture was studied in four parts and Scale for closure is studied by Acsadi-Nemeskeri complex method Results: Ectocranially the start of fusion of sagittal suture was observed at the age of 51-60 yrs age group in females and in 46-50 yrs in males and endocranially at 31-40 yrs in males and 41-50 yrs in females. Conclusion: When comparison between males and female subjects for ectocranially closure were made, closure was earlier in males. Completion is perfected at the age of 61-70 years. The study showed that fusion of endocranium began first on S4 & last on S1 in both sexes. Though consensus of opinion in our country is that the obliteration of the skull sutures in females is somewhat earlier than that of males, in the present study no such pattern in difference was noticed in endocrinal sutural fusion. [ABSTRACT FROM AUTHOR]

Parietal emissary foramina (PEF) are small holes, which are localized between the middle and posterior thirds of the parietal bone posterior surface close to the sagittal suture. PEF are important structures that protect the parietal emissary vein, which passes through it. During neurosurgery procedures, parietal foramina (PF) knowledge is crucial. This work aimed to evaluate presence and location of the PF in the skull of an adult human. Moreover, measure the distance amidst PF and the sagittal suture's midline to ascertain its clinical repercussions. 74 adult human skulls, without gross pathology, were observed for the PF's existence. The PF's and sagittal suture's midline distance were measured. According to the PF patterns of presence, five groups were distributed. Finally, specimens were photographed and subjected to statistical analysis. The PF was absent in 7 skulls (9.5 %). There were 9 skulls (12.2 %) exhibited central parietal foramen where the parietal foramen lies on the sagittal suture. 17 skulls (23 %) showed right unilateral parietal foramen, whereas 15 skulls (20.3 %) demonstrated left unilateral parietal foramen. The final 26 skulls (35.1 %) exhibited bilateral parietal foramen. This descriptive study supplies valuable information of PF variations, which is crucial for neurosurgeons in modifying surgical techniques and procedures to alleviate injury to PF-emerging structures such as emissary veins. [ABSTRACT FROM AUTHOR]

Purpose: 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. Methods: 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. Results: 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. Conclusion: 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. [ABSTRACT FROM AUTHOR]

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.Materials and 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.Conclusion: 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. [ABSTRACT FROM AUTHOR]

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. Materials and 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 [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Wei Liang, Pengbing Ding, Guan Li, Enhang Lu, Zhenmin Zhao Department of Plastic Surgery, Peking University Third Hospital, Beijing, 100191, People’s Republic of ChinaCorrespondence: Zhenmin ZhaoDepartment of Plastic Surgery, Peking University Third Hospital, Beijing, 100191, People’s Republic of ChinaEmail zzmbysy@sina.comBackground: The potential of relapse of craniofacial disharmony after trans-sutural distraction osteogenesis is high due to the failure to produce a stable bone bridge in the suture gap. The aim of this study is to evaluate whether hydroxyapatite nanoparticles (nHAP) have the effect of promoting osteoblast differentiation of suture-derived stem cells (SuSCs) and bone formation in sagittal suture during expansion.Methods: SuSCs were isolated from sagittal sutures and exposed to various concentrations of nHAP (0, 25, 50, and 100 μg mL− 1) to determine the optimal concentration of nHAP in osteoblast differentiation via performing Western Blotting and RT-qPCR. Twenty 4-week-old male Sprague–Dawley rats were randomly assigned into 4 groups: SHAM (sham-surgery), distraction, ACS (absorbable collagen sponge) and ACS+nHAP groups. In the ACS and ACS+nHAP groups, saline solution and nHAP suspended in a saline solution were delivered by ACS placed across the sagittal suture, respectively. In the latter three groups, the suture was expanded for 14 days by 50 g of constant force via a W shape expansion device. Suture gap area, bone volume fraction (BV/TV) and bone mineral density (BMD) of sagittal sutures were assessed via micro-CT, while the mechanical properties of sagittal sutures were evaluated via nanoindentation test. The efficacy of nHAP on bone formation in sagittal suture was also evaluated via BMP-2 immunohistochemistry staining.Results: The expression of osteoblast related genes and proteins induced by 25μg mL− 1 nHAP were significantly higher than the other groups in vitro (p< 0.05). Furthermore, treating with 25μg mL− 1 nHAP in vivo, the suture gap area was significantly reduced when compared with the distraction group. Correspondingly, the BV/TV, BMD, hardness and modulus of sagittal sutures were significantly increased in the ACS+nHAP group (p< 0.05).Conclusion: The 25μg mL− 1 dose of nHAP delivered by ACS can facilitate bone formation into the sagittal suture during expansion via inducing osteoblast differentiation of SuSCs.Keywords: hydroxyapatite nanoparticles, suture-derived stem cells, osteoblast differentiation, sagittal suture, bone formation

• The "Peau d'ours" technique represents an alternative to treat Scaphocephaly (SC). We presented a total of 53 patients with SC enrolled between 2011 and 2016 in Mexico. • The advantages in this technique are health coronal and lambdoid suture preservation, and symmetrical parietal bone flap opening. • This technique is safe and simple to reproduce allowing a preservation of intellect, sight, and body image with a low incidence of secondary craniosynostosis. • This technique is ideal for patients older than 6 months, which represents a common clinical scenario in Mexico. 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: The parietal foramen (PF) is a small inconsistent aperture located at the border of the middle 1/3 and posterior 1/3 of the parietal bone near the sagittal suture and is considered an emissary foramen. Cranial emissary foramina are of utmost importance due to the structures that traverse the foramen. Variations in these foramina are common. Knowledge of the PF is important when performing neurosurgical procedures as the emissary vessels are at risk.Materials and Methods: The present study used 100 dry adult calvaria to determine the frequency of PF, the diameter of the PF, as well as topography of the PF (using the sagittal suture as an anatomical landmark).Results: A total of 32% of calvaria had PF present bilaterally; whilst 35% of calvaria had unilateral PF. The study also reports 5% calvaria in which PF were present on the sagittal suture. The mean diameter recorded was 1.55 mm (0.74-3.08 mm), and the mean distance between the lateral margin of the PF and the sagittal suture was 9.02 mm (4.44-18.20 mm).Conclusions: Knowledge of the incidence and topography of the PF may aid neurosurgeons in creating and adjusting techniques and procedures in order to mitigate the risk of injury to emissary veins and other structures emerging from the PF. [ABSTRACT FROM AUTHOR]

Background: The parietal foramina (PFs) are located on either side of the sagittal suture at the posterior aspect of the parietal bone. The part of the sagittal suture between the two PFs is called obelion because it resembles the Greek symbol % “obelos.” The PF transmits an emissary vein named Santorini vein which connects the extracranial veins to the superior sagittal sinus. The emissary veins are of clinical significance as they are involved in the pathway of spreading infection from the extracranial to the intracranial source. PF is of special interest to neuroanatomists and neurosurgeons due to its anatomical variations and surgical importance. Materials and Methods: A total of 111 dry human calvariae of unknown gender were included in the study. These human calvariae were observed for the presence or absence and also observed for the unilateral, bilateral, single, or multiple PFs. The foramina were macroscopically observed by using a magnifying lens, and a needle was probed into each foramen to check their patency. Topographical parameters were measured. Results: Out of 111 calvariae, a single parietal emissary foramen was observed in 63 (56.7%) on the right parietal bone, 67 (60.3%) on the left parietal bone, and absence of parietal emissary foramen on right parietal bone in 41 (36.9%) and 37 (33.3%) on the left parietal bone, bilateral absence in 23 (20.7%) of the parietal bones. The presence of parietal emissary foramen on the sagittal suture was observed in 2 (1.8%) of skulls and also noted the single, double, multiple PF in 56.7%, 2.7%, 1.8% and 60.3%, 4.5%, 0, respectively. The different shapes of PF that was observed were circle shape on the right side 69.3%, on the left 66.6%, slit shape on the right 0.9%, on the left 1.8%, oval shape on the right 2.7%, on the left 1.8%. Out of all parietal emissary foramen, bilateral PF was observed in 53 + single parietal foramen on right 63 + on left 67 + double on right 3 + on left 5 + multiple on right 3 = 247. Out of 247 PF, 8 were patent through and the connection was oblique. All the other foramina were found to open into the diploic space. For those foramina through and through patency could not be assessed. The distance between the PF, distance of PF and sagittal suture, distance from the bregma to obelion, distance from lambda to obelion were measured. The obtained results are tabulated. Conclusion: Parietal emissary veins are surgically important structures that receive little attention in scalp surgeries. These veins cause excessive bleeding if not located properly. The current study reports the anatomical variations in the PF which may serve as an important landmark to the neurosurgeon. [ABSTRACT FROM AUTHOR]

Vertex epidural hematoma (VEDH) is a rare intracranial mass constituting roughly 2.5% of all epidural hematomas. Bleeding usually derives from the superior sagittal sinus, and presentation is often acute—seldom chronic. Fractures are common, but diastasis of the sagittal suture in adults is unique. We hereby present a case combining these rare features along with diagnostic pitfalls and management. A 43-year-old male with a history of hitting his head against the roll cage of the racing car 3 weeks before admission presented with unbearable headache of 9 Numeric Rating Scale intensity and decreased muscular strength in the right upper limb down to 4/5 of the Lovett scale. The initial Glasgow Outcome Scale was 4. His axial computed tomography scan mimicked convexity hyperostosis, meningioma, or lymphoma. Coronal reconstruction revealed a 102-mL large biconcave mass of mixed hyperdensity and hypodensity at the vertex. Bone window showed sagittal suture diastasis. Contrast-enhanced magnetic resonance imaging gave evidence of superior sagittal sinus detachment. Parietofrontal craniotomy crossing the midline was performed in order to evacuate the hematoma. On 2-week follow-up his pain decreased, his right arm strength recovered, and he had a Glasgow Outcome Scale score of 5. VEDH can present as an intensifying headache even weeks after purported trauma. Axial computed tomography scans can be tricky because of the blind spot. Even large VEDH may be seen only in the very last few axial slices and may mimic other entities. Coronal reconstructions or additional magnetic resonance imaging come in handy. One-piece parietofrontal craniotomy is an option to approach this hematoma. [ABSTRACT FROM AUTHOR]

Background: Age estimation is an integral part of the biological profile employed by forensic anthropologists in order to assist in achieving an identification of an unknown deceased individual. Its estimation is of paramount importance and requires special attention in cases where bodies are found in decomposed, mutilated state or only fragmentary remains are discovered. Material and Method: The present study has been done on post-mortem cases referred to GMERS Medical College, Himmatnagar which is referral center. Very few studies have been conducted on sagittal suture closure in Himmatnagar region . Total 150 post mortem cases were taken and data collected. Result: Present study reveal that Ectocranial obliteration of the various segments of the three main sutures of the skull is so inconclusive that neither does it help in estimating the age of the deceased nor does it provide any supportive evidence in determining the age of skeletal remain. Age was determined on the basis of endocranial suture fusion. Conclusion: It was found that closure of Sagittal suture started in age of 20-29 yrs and closure completed at the age of 61 to 65 yrs. [ABSTRACT FROM AUTHOR]

Background: Infants with sagittal suture synostosis often present a pathologic dilatation of subarachnoid spaces. The impact of such subarachnoid spaces' enlargement in the morphology of the skull, especially on the forehead and on the surgical outcome, was analyzed. Methods: Children less than 6 months of age undergoing a surgical correction of the scaphocephaly with Renier's H technique between 2003 and 2008 were included in the study. In these patients, preoperative and postoperative fronto-occipital diameter (FOD), biparietal diameter (BPD), temporal width (TW), and naso-frontal angle (NFA) were measured. Cranial index (CI) and the difference between preoperative and postoperative CI (ΔCI) were calculated. Preoperative cranio-cortical width (CCW) was measured to analyze the subarachnoid spaces' volumes. The children here considered were then divided into two groups: Group 1 with CCW within normal estimated value corrected for age and Group 2 with CCW larger than estimated normal value. Results: About 159 children were enrolled (72.3% male). CCW was larger than expected in 95 children (59.8%). A positive correlation between CCW and BPD (P ≤ 0.001) and a negative correlation between CCW and NFA (P ≤ 0.001) were found. When comparing the two groups, the mean age at preoperative computed tomography (CT) scan was 121 days in Group 1 and 110 days in Group 2. The mean age at operation was 130 days in Group 1 and 123 in Group 2. The mean age at postoperative examination (RX or CT scan) was 53.4 months in Group 1 and 51.8 months in Group 2. Preoperatively, the mean BPD, TW, and CI were significantly larger in Group 2 (P ≤ 0.01), whereas the NFA was significantly narrower (P = 0.03). Postoperative analysis showed that ΔCI was statistically different between the two groups (Group 1: 10%, Group 2: 7%; P < 0.04). The duration of follow-up period ranged between 19 and 129 months. Conclusion: Two main subtypes of forehead of infants with scaphocephaly may be distinguished. Indeed, the morphology of the forehead differs when a pathologic subarachnoid spaces' enlargement is present preoperatively and it also affects the postoperative evolution. Such observation highlights the importance of evaluating whether subarachnoid spaces are enlarged when planning a surgical correction in isolated sagittal suture synostosis. [ABSTRACT FROM AUTHOR]