Suture Synostosis Research Articles

The First Cranial Trepanation Find in a Meotian Burial Ground (Starokorsunskiy Settlement No. 2, Krasnodar Region)

A young woman’s skeleton dating back to the Meotian archaeological culture was studied during the investigation of the paleoanthropological series of the burial ground of the Starokorsunsky settlement No. 2. The burial ground is located in the Krasnodar Territory and is dated to the 4th century BC – 2nd century AD, while the burial under discussion dates back to the 2nd century BC – 2nd century AD. A trepanation hole with signs of healing was found on the skull of a young female of 17–25 years of age. In order to describe the pathological changes recorded on the cranial vault recommendations applied in modern paleoanthropology were used. Differential diagnosis was performed using descriptive macroscopic and X-ray diagnostic methods. It was possible to establish that the trepanation hole was made at least several years before the death of the individual. We suggested that the reason for the operation could be early synostosis of the skull sutures, and this manipulation was designed to reduce intracranial pressure and headaches caused by it. The article discusses the likely origins of medical skills for surgical manipulation. It is concluded that so far the data obtained do not allow us to speak unequivocally about the acquisition of medical knowledge by Meots from residents of the Asian Bosporus or from the Sarmatian environment.

Intraoperative Ultrasound in Endoscopic Sagittal Suture Synostosis to Optimize Incision Planning and Avoid Misdiagnosis.

Endoscopy-assisted craniectomy with lateral osteotomies and postoperative helmet molding therapy is a widely used approach in managing sagittal suture craniosynostosis. Generally, the incisions are placed just posterior to the anterior fontanel and just anterior to the posterior fontanel and lambdoid sutures, and accurate incision placement optimizes the safe separation of the superior sagittal sinus. The authors present their 10 year experience with an ultrasound-assisted approach to identify the lambdoid sutures and precisely place the skin incisions. The authors included all patients in care at their institution between 2010 and 2023 who operated for sagittal suture craniosynostosis with endoscopy-assisted craniectomy with lateral osteotomies and postoperative helmet molding therapy. A retrospective review of clinical parameters, surgical data, as well as outcomes, and imaging studies was performed. One hundred patients were operated during the observation period. The mean age was 3.9 ± 3.5 (range: 2.7-6.4) months. Intraoperative ultrasound was documented in 61% of cases (n = 61). In 100% of cases, the incisions were placed behind the anterior and in front of the posterior fontanel, as planned with ultrasound. In 2 additional cases, intraoperative sonography identified a patent sagittal suture in the operating room. A histopathological review showed suture ossification in 100% of operated cases with available reports. Using this technique of ultrasound-guided identification of the lambdoid suture/posterior fontanel, as well as coronal suture/anterior fontanel, may aid in the adequate placement of skin incisions. Patent sutures can be identified in clinically misdiagnosed patients. This study reaffirms the overall utility of ultrasound in pediatric operative neurosurgery.

Long-term outcomes after surgical correction of anterior plagiocephaly secondary to isolated frontosphenoidal synostosis: a systematic review and two illustrative cases.

Anterior plagiocephaly ( AP), secondary to isolated frontosphenoidal synostosis (IFS), represents one of the rarest forms of craniosynostosis documented in medical literature. Therefore, there is a lack of comprehensive understanding regarding the long-term (> 2years) postoperative outcomes of this minor suture synostosis. This study presents the long-term outcomes of two patients previously treated for IFS, detailing their clinical, imaging, and postoperative characteristics. Additionally, a systematic review was conducted following PRISMA criteria to summarize existing literature on the topic. The review specifically focuses on long-term aesthetic outcomes, reoperation rates, and complications following surgical intervention for IFS. Four articles encompassing 12 patients were included in the systematic review. The review highlights clinical features, postoperative complications, reoperation rates, and long-term aesthetic outcomes. The mean age at surgery was 17.5months (range 9.5-24months), with an average age at diagnosis of 9.3months (range 6-10months). Fronto-orbital advancement was the predominant surgical approach described across all cases. The reoperation rate among patients was 16.6%, with only two cases reporting postoperative complications. In one of our cases, an intraoperative CT scan was utilized to illustrate real-time improvement in frontal bone alignment according to the surgical plan, which significantly contributed to positive long-term clinical outcomes observed during a follow-up period exceeding 24months. IFS, is a rare minor suture synostosis, significantly affects the aesthetic appearance of the forehead and necessitates consideration in the management of AP cases. Surgical intervention has shown minimal reoperation rates and excellent long-term prognosis. These findings are reinforced by recent institutional data and a comprehensive systematic review of the current literature.

Geometric Morphometric Study on Distinguishing Metopic Craniosynostosis from Metopic Ridging.

Craniosynostosis, a common congenital anomaly, results from premature fusion of the cranial sutures. One of the forms of craniosynostosis is premature fusion of the metopic suture, referred to as trigonocephaly, but the diagnosis of metopic suture synostosis remains controversial. The purpose of this study was to clarify, using geometric morphometric analysis, if a metopic ridge alone observed in cases of mild trigonocephaly represents a pathological phenomenon. Three different cranial morphologies were compared among patients up to 2 years old who were categorized into the true group, the mild group, and the normal group, based on the presence or absence of specific symptoms, history of cranioplasty for trigonocephaly, or lack of any abnormality on computed tomography. Using the obtained computed tomography images, 235 anatomical landmarks and semi-landmarks were plotted on the entire cranial surface for analysis of neurocranial morphology, and the cranial shapes represented by landmarks were analyzed using geometric morphometrics. Principal components of shape variations among specimens were then computed, based on the variance-covariance matrix of the Procrustes residuals of all specimens, and statistically analyzed. The principal component analyses of the variations in endocranial shape, frontal bone shape, and occipital bone shape did not show any significant differences in cranial morphology between mild trigonocephaly and normal skulls; however, true trigonocephaly was found to differ significantly from mild trigonocephaly and normal skulls. These findings suggest that in assessments of cranial morphology, the presence of a ridge alone cannot be diagnosed as fundamentally pathological, and may represent normal morphology.

Concordance factors in craniosynostosis twins: a meta-analysis and case report

Introductions: Craniosynostosis is a condition where the cranial sutures close prematurely. It is influenced by both genetics and environment. This paper focuses on craniosynostosis in twins, which is an understudied area. It presents a case report of male identical twins and conducts a meta-analysis based on 34 articles to understand the factors affecting concordance in twins who have craniosynostosis. The study considers factors such as zygosity, gender, genetic syndromes, and the type of synostosis. Material and methods: A meta-analysis was conducted on 105 twin pairs (210 patients) identified from studies carried out between 1963 to 2023. The eligible studies, based on PICO criteria, included case reports and case series focusing on twins with craniosynostosis. A systematic literature search was conducted on PUBMED and Mendeley platforms to gather data on gestational age, zygosity, genetic syndromes, affected sutures, and concordance. Results: The report is about two identical twin brothers who had sagittal and metopic suture synostosis. They were treated successfully with cranial remodeling surgery. In a meta-analysis of 105 twin pairs (210 patients) , a total of 25.9% showed concordance. The study found a significant difference in concordance between monozygotic (45.3%) and dizygotic (7.3%) twins. The analysis also revealed that twins with scaphocephaly had a higher degree of concordance than those with trigonocephaly (46.7% vs. 18.9%, respectively). The study did not find any significant correlation between gender, the presence of genetic syndromes, and concordance. Conclusion: This investigation highlights the complex interplay of genetic and environmental factors in craniosynostosis in twins. The higher concordance in monozygotic twins emphasizes the genetic basis. These findings validate existing literature and provide new insights.

Intracranial Pressure, Autoregulation, and Cerebral Perfusion in Infants With Nonsyndromic Craniosynostosis at the Time of Surgical Correction

BACKGROUND AND OBJECTIVE: Although an increased intracranial pressure (ICP) is a known problem in children with syndromic craniosynostosis, it remains unclear whether elevated ICP and impaired cerebral perfusion exist in nonsyndromic synostosis and should be defined as targets of primary treatment. This study aimed to investigate ICP, cerebral autoregulation (CAR), and brain perfusion in infants with nonsyndromic craniosynostosis at first surgical intervention. METHODS: Forty-three infants were prospectively included. The patients underwent perioperative measurement of mean arterial blood pressure, ICP, and brain perfusion before and after cranial vault decompression. Physiological parameters with possible influences on ICP and autoregulation/brain perfusion were standardized for age. CAR was assessed by the pressure reactivity index (PRx), calculated using the mean arterial blood pressure and ICP. RESULTS: Biparietal decompression was performed in 29 infants with sagittal synostosis (mean age, 6.1 ± 1.3 months). Fronto-orbital advancement was performed in 10 and 4 infants with metopic and unilateral coronal synostosis, respectively (mean age, 11.6 ± 2.1 months). An elevated ICP (>15 mm Hg) was found in 20 of 26 sagittal (mean, 21.7 ± 4.4 mm Hg), 2 of 8 metopic (mean, 17.1 ± 0.4 mm Hg), and 2 of 4 unilateral coronal synostosis cases (mean, 18.9 ± 2.5 mm Hg). Initial ICP was higher in sagittal synostosis than in metopic/coronal synostosis (P = .002). The postdecompression ICP was significantly reduced in sagittal synostosis cases (P < .001). The relative cerebral blood flow and blood flow velocity significantly increased after decompression. Impaired CAR was found in infants with a mean ICP >12 mm Hg (PRx, 0.26 ± 0.32), as compared with those with a mean ICP ≤ 12 mm Hg (PRx, −0.37 ± 0.07, P = .001). CONCLUSION: Contrary to common belief, an elevated ICP and significantly impaired CAR can exist early in single suture synostosis, particularly sagittal synostosis. Because an influence of raised ICP on long-term cognitive development is known in other diseases, we suggest that preventing increased ICP during the phase of maximal brain development may be a goal for decompressive surgery, at least for sagittal synostosis cases.

Image processing and machine learning for diagnosis and screening of craniosynostosis in children

Objectivecraniosynostosis (CSO) is a congenital disorder resulting from early closure of cranial sutures in newborns, while could cause significant cosmetic and neurodevelopmental problems. As a standard method, different craniometric indices are measured directly from child head or from their 3D CT scan of skull for diagnosis or in post-operative follow-up period. We propose a novel telehealth-compatible deep learning neural network-based method for identifying different craniometric indices in non-syndromic CSO patients 2D photographic data. Methods624 pre-operative and post-operative top-down cranial digital images of 145 craniosynostotic infants (59 sagittal, 55 metopic and 31 unicoronal synostosis) who had surgery at Mofid Children’s Hospital, Tehran, Iran were used in a deep learning neural network algorithm. Head boundary was defined by a faster region-based convolutional neural network (Faster R-CNN) and then different cranial indices (cranial index (CI), cranial vault asymmetry index (CVAI), anterior-posterior width ratio (APWR), anterior-midline width ratio (AMWR) and left–right height ratio (LRHR)) were calculated from segmented images. Accuracy, sensitivity and specificity were calculated for software versus specialist data association between cranial indices were evaluated with inter-class correlation coefficients. ResultsThe head border was segmented in the proposed images with accuracy of 88.67 ± 1.94 in comparison with standard hand made procedure with a sensitivity of 86.91 ± 3.75 and specificity of 88.60 ± 4.81. Among calculated cranial indices, significant decrease in CI value is most useful for diagnosis of sagittal synostosis (CIsagittal = 71.97 ± 4.33), significant increase in CVAI value and significant decrease in LRHR value is most appropriate for unicoronal suture synostosis diagnosis (CVAIunicoronal=6.79±3.80 and LRHRunicoronal = 0.91 ± 0.05) and significant decrease in APWR and AMWR values could be indicator of metopic synostosis (AMWRmetopic= 0.77 ± 0.04 and APWRmatopic = 0.83 ± 0.05). ConclusionDeep learning neural network algorithms could have high levels of capability in calculating cranial indices from routine 2D digital images of non-syndromic craniosynostotic children and act as a substitute for optical scanner or 3D CT-based craniometrics. This method could act as a corner stone for developing a software for a mobile platform that that would allow for screening by tele-medicine or in a primary care setting.

Is Postoperative Helmet Molding Therapy Necessary for Craniectomy for Sagittal Suture Synostosis?

Endoscopic strip craniectomy followed by postoperative remodeling helmet therapy for scaphocephaly is widely accepted, but the requirement of several helmets might burden patients or their families. This study examined whether craniectomy via a bicoronal approach without molding helmet therapy is worth considering. The authors retrospectively reviewed patients with nonsyndromic sagittal suture synostosis who underwent the modified Renier H technique between 2016 and 2021. We collected data on preoperative and postoperative cephalic index (CI), operative time, estimated blood loss, and blood transfusion rates. The authors also examined all related literature in English describing endoscopic craniectomy with postoperative helmet molding therapy for sagittal suture craniosynostosis. Among 17 patients, the average operative time was 92.2±15.6 minutes, the mean estimated blood loss was 35.8±22.4mL, and a blood transfusion was needed for 9 patients (52.9%). The mean preoperative and postoperative CIs were 69.1±2.6 and 78.4±2.2, respectively. A comparison of the literature review with the authors' results showed that their procedures required a slightly longer operative time and a higher frequency of blood transfusions. There are no significant differences in blood loss or preoperative and postoperative CIs reported in the literature. The open procedure required a higher operative time than endoscopic suturectomy. However, dealing with bleeding is more challenging with endoscopic suturectomy. The cost of the helmets and the duration patients have to wear them, which might be burdensome for the patients or their families when determining the optimal minimally invasive treatment, should also be considered.

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Fetuses with RASopathies can have a wide variety of anomalies including increased nuchal translucency, hydrops fetalis, and structural anomalies (typically cardiac and renal). There are few reports that describe prenatal-onset craniosynostosis in association with a RASopathy diagnosis. We present clinical and molecular characteristics of five individuals with RASopathy and craniosynostosis. Two were diagnosed with craniosynostosis prenatally, 1 was diagnosed as a neonate, and 2 had evidence of craniosynostosis noted as neonates without formal diagnosis until later. Two of these individuals have Noonan syndrome (PTPN11 and KRAS variants) and three individuals have Cardiofaciocutaneous syndrome (KRAS variants). Three individuals had single suture synostosis and two had multiple suture involvement. The most common sutures involved were sagittal (n = 3), followed by coronal (n = 3), and lambdoid (n = 2) sutures. This case series confirms craniosynostosis as one of the prenatal findings in individuals with RASopathies and emphasizes the importance of considering a RASopathy diagnosis in fetuses with multiple anomalies in combination with craniosynostosis.

Atypical sagittal suture craniosynostosis: pathological considerations for early closure of the anterior part of the sagittal suture.

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.

Can Craniosynostosis be Diagnosed on Physical Examination? A Retrospective Review.

Craniosynostosis is a developmental craniofacial defect in which one or more sutures of the skull fuse together prematurely. Uncorrected craniosynostosis may have serious complications including elevated intracranial pressure, developmental delay, and blindness. Proper diagnosis of craniosynostosis requires a physical examination of the head with assessment for symmetry and palpation of sutures for prominence. Often, if craniosynostosis is suspected, computed tomography (CT) imaging will be obtained. Recent literature has posited that this is unnecessary. This study aims to address whether physical examination alone is sufficient for the diagnosis and treatment planning of single suture craniosynostosis. Between 2015 and 2022, the Divisions of Pediatric Neurosurgery and Pediatric Plastic Surgery at UTHealth Houston evaluated 140 children under 36 months of age with suspected craniosynostosis by physical examination and subsequently ordered CT imaging for preoperative planning. Twenty-three patients received a clinical diagnosis of multi-sutural or syndromic craniosynostosis that was confirmed by CT. One hundred seventeen patients were diagnosed with single suture craniosynostosis on clinical examination and follow-up CT confirmed suture fusion in 109 (93.2%) patients and identified intracranial anomalies in 7 (6.0%) patients. These patients underwent surgical correction. Eight (6.8%) patients showed no evidence of craniosynostosis on CT imaging. Treatment for patients without fused sutures included molding helmets and observation alone. This evidence suggests that physical examination alone may be inadequate to accurately diagnose single suture synostosis, and surgery without preoperative CT evaluation could lead to unindicated procedures.

Facial Fat Graft Injection Reduces Asymmetry and Improves Forehead Contour in Early Infancy Apert Syndrome Patients.

The objective of this study is to report the outcomes of a modified comprehensive Apert syndrome surgical protocol in which fat injection was performed during early infancy concurrent with postposterior vault distraction osteogenesis (PVDO) distractor removal. A retrospective study was performed on 40 consecutive young patients with Apert syndrome who underwent PVDO and subsequent distractor removal between 2012 and 2022. Of these 40 patients, 12 patients underwent facial fat injection concurrent with distractor removal to treat residual supraorbital bar recession as part of a modified comprehensive Apert syndrome surgical protocol. Preoperative and postoperative severity of recession and irregularity was graded from 1 to 3, with 1 being less severe and 3 being the most severe. Recession severity was correlated with the number and type of suture fusion. The complication rate was stratified via a Clavien-Dindo scale. The average patient age was 14.3±5 months, with 5 males (41.6%) and 7 females (48.3%). The average hospital stay was 1.08 days. The average volume of free fat graft injection was 8.29±5mL. According to the Likert scale, forehead morphology improved in 91.67% of the patients. Complete resolution of supraorbital bar recession was achieved in seven patients (58.33%), all of whom presenting a single suture synostosis. One patient with a cloverleaf skull presented a type IIIB complication. Facial fat grafting markedly reduces forehead asymmetry and improves forehead contour in Apert syndrome patients following PVDO. Total resolution of forehead recession directly correlated with a single suture fusion.

Three-dimensional micromorphology of human midpalatal suture and pterygomaxillary articular complex.

Sutures exist in the craniofacial area, and the pattern of maturation and synostosis of facial sutures is largely unknown. For a comprehensive understanding of the three-dimensional circummaxillary suture micromorphology, human midpalatal suture (MPS) and pterygomaxillary articular complex from eight subjects' (five males, three females, 72-88 years old) autopsies were longitudinally scanned with microcomputed tomography. Additional histology was performed for hematoxylin and eosin staining. Sutural micromorphology was assessed by interdigitation index (II), obliteration index (OI) and obliteration number. Intergroup comparisons were performed with Kruskal-Wallis and Mann-Whitney U with Bonferroni correction (α=0.005). Correlation with anteroposterior and craniocaudal gradients was assessed with Spearman's correlation test (α=0.05). Maxillary region of MPS presented a higher II 1.50 (0.61) and obliteration number per slice 8 (9) (P < 0.005). OI was increased in palatomaxillary 35% (47%) followed by pterygopalatine suture 25% (49%) (P < 0.005). The II and OI of the MPS exhibited only a weak anteroposterior gradient, with relatively low correlations. Obliteration areas were found sporadically along the entire MPS. Based on these findings, it is conceivable that the success of nonsurgical maxillary expansion largely depends on individual variations in sutural morphology and maturation rather than appliance design.

Management of Epidural and Subgaleal Abscesses in Pediatric Craniosynostosis Surgery

Introduction: Epidural/subgaleal abscesses in craniosynostosis surgery are rare but serious complications that may compromise neurological functioning in pediatric craniofacial populations. We evaluated the risk and evolution of management of post-operative subgaleal/epidural abscesses in craniosynostosis patients treated over 20 years by a single surgeon. Methods: Pediatric patients who underwent transcranial procedures for craniosynostosis by a single surgeon from 1997 to 2018 were included. The patients were stratified into groups based on the development of post-op abscess. The primary outcome measure was bone salvage success. Post-op abscesses were drained in the following manner: either open packing with delayed closure or no elevation of the scalp flap, followed by copious irrigation and deep (epidural) drain placement plus long-term intravenous antibiotics. Results: A total of 384 patients underwent 413 cases in this period: 177 sagittal, 85 unicoronal, 49 metopic, 4 lambdoid, and 69 cases of multiple suture synostosis. In this cohort, epidural/subgaleal abscess were found in 6 patients (1.5%) who all had bilateral fronto-orbital advancement ( P = .03). Bone salvage was attempted in all 6 patients with only minor bone resorption seen in 3 of the patients who presented with abscess. Conclusion: This study found that patients undergoing bilateral fronto-orbital advancement were at increased risk of a deep space infections, while those undergoing clavarial vault remodeling with barrel staves alone, were not. We were able to salvage the bone grafts and prevent neurological sequela with surgical washout, placement of drains and intravenous antibiotic therapy.

Facial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.

To assess the role of FGFR2 mutations and sutural synostotic patterns on facial skeleton dysmorphology in children with syndromic craniosynostosis. Preoperative high-resolution CT images in 39 infants with syndromic craniosynostosis were evaluated. Patients were divided into infants with and without FGFR2 mutations; each group was split according to synostotic involvement of minor sutures/synchondroses: isolated or combined involvement of middle (MCF) and posterior cranial fossae (PCF). Quantitative analysis of the midface and mandible measures was performed. Each subgroup was compared with a group of age-matched healthy subjects. Twenty-four patients with FGFR2 related syndromes were clustered in 3 subgroups: MCF + PCF (8 patients, 5.4 ± 1.75months), MCF (8 patients, 3.62 ± 1.68months), and PCF (8 patients, 2.75 ± 0.46months). Fifteen no-FGFR2 patients were clustered in 2 subgroups: MCF + PCF (7 patients, 9.42 ± 0.78months) and PCF (8 patients, 7.37 ± 2.92months). Both FGFR2 and no-FGFR2 groups with involvement of minor sutures coursing in MCF showed more facial sutural synostoses. Children with minor suture/synchondrosis synostosis of MCF (MCF-PCF and MCF subgroups) showed altered position of glenoid fossa and mandibular inclination ([Formula: see text]), but children in the FGFR2 group had also reduced midfacial depth and maxillary length ([Formula: see text]). Children with minor suture/synchondrosis synostosis of PCF (PCF subgroups) had reduced posterior mandibular height, but those children in the FGFR2 group also showed reduced intergonion distance ([Formula: see text]). In children with syndromic craniosynostosis, both skull base and facial suture synostosis affect facial dysmorphology/hypoplasia. FGFR2 mutations may worsen facial hypoplasia both acting on bone development and causing an earlier premature closure of facial sutures.

Twenty Year review of a Single Surgeon's Experience for craniosynostosis surgery

Introduction: Nonsyndromic craniosynostosis (NC) is more commonly encountered than syndromic cases in pediatric craniofacial surgery. Affected children display characteristic phenotypes according to the suture or sutures involved. This study aims to report a single surgeon experience with surgery for primary craniosynostosis correction. Methods: A retrospective review was carried out including all cases performed by the same surgeon between 2001 and 2021. The clinical data of 356 patients (371 surgeries) with primary craniosynostosis that have undergone surgery were retrospectively analyzed. Results: There were 232 (65.1%) males and 124 (34.9%) females, with most of the male preponderance occurring due to the trigonocephaly (86%) and scaphocephaly (84.5%) groups. A female predominance was observed only in brachycephaly group (64.8%). There was a statistically significant male predominance between non-syndromic versus syndromic cases (p=0.0001). The most frequent forms in non-syndromic forms were scaphocephaly in 136 (51.5%), trigonocephaly in 48 (18.1%), anterior plagiocephaly in 47 (17.8%), and brachycephaly in 35 (13.2%). A named syndrome was present in 57 (16%). Genetic syndromes presented more commonly than expected with bilateral synostosis, the Kleeblattschadel deformity, and multiple suture synostosis (p=0.001). Complications were observed in 15 (4.2%). Intraoperative hemorrhage and CSF leakage were the most common ones. Morbidity was significantly associated with monobloc fronto-facial advancement. The mean follow-up was 3.7 years (9 months to 22 years). Morphological results in NC were classified in category I in 210 (70.2%), II in 82 (27.9%), and III in 7 (1.9%) cases for NC. Conclusions: Non-syndromic craniosynostosis can be corrected with good outcomes and relatively low morbidity and mortality. For syndromic cases a multidisciplinary team is fundamental to archieve satisfactory results.

Molecular Mechanisms Involved in Craniosynostosis.

Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while in other cases (15%) as part of syndromes (syndromic craniosynostosis). Patients with syndromic disorder usually have more severe symptoms compared to those with single suture synostosis. Most common syndromes of craniosynostosis include Pfeiffer, Apert, Crouzon, Jackson-Weiss, Muenke and Boston type MSX2-related syndrome. The main gene mutations in craniosynostosis involve FGFR1, FGFR2, FGFR3, TWIST1 and MSX2, which encode key factors influencing cranial bone morphogenesis. The main therapeutic approaches are surgical as discussed in this review, and the type of therapy depends on the graveness of the incident.

CASE REPORT: SQUAMOUS SUTURE SYNOSTOSIS IN RAINE SYNDROME CASE REPORT AND LITERATURE REVIEW

The purpose of this case study review is to evaluate Squamous Suture synostosis in Raine syndrome. Raine syndrome is characterized by dysmorphic features including exophthalmos, microcephaly, gum hypertrophy, low-set ears, midface hypoplasia, and osteosclerosis. RS is closely associated with squamous suture synostosis, one of the lateral minor skull sutures separating the parietal and squamous temporal bones. The study examined a three-year-old Saudi male born to healthy parents and a known case of Raine syndrome, craniosynostosis, degenerative myopia, and cataract. The Computed tomography (CT) scan results showed that the patient had metopic craniosynostosis with squamosal suture craniosynostosis and high intracranial pressure (ICP). The findings show that the association between Squamous Suture synostosis and Raine syndrome is seen in osteoporosis-related to deficiency of carbonic anhydrase II. However, in Raine syndrome disorder, the calcifications are seen after one year of age in many cases. Thus, it can be noted that Raine syndrome is inherited as an autosomal recessive in FAM20C mutation and is most identified among children.

Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.

Syndromic craniosynostosis (CS) patients exhibit early, bony fusion of calvarial sutures and cranial synchondroses, resulting in craniofacial dysmorphology. In this study, we chronologically evaluated skull morphology change after abnormal fusion of the sutures and synchondroses in mouse models of syndromic CS for further understanding of the disease. We found fusion of the inter-sphenoid synchondrosis (ISS) in Apert syndrome model mice (Fgfr2S252W/+ ) around 3 weeks old as seen in Crouzon syndrome model mice (Fgfr2cC342Y/+ ). We then examined ontogenic trajectories of CS mouse models after 3 weeks of age using geometric morphometrics analyses. Antero-ventral growth of the face was affected in Fgfr2S252W/+ and Fgfr2cC342Y/+ mice, while Saethre-Chotzen syndrome model mice (Twist1+/- ) did not show the ISS fusion and exhibited a similar growth pattern to that of control littermates. Further analysis revealed that the coronal suture synostosis in the CS mouse models induces only the brachycephalic phenotype as a shared morphological feature. Although previous studies suggest that the fusion of the facial sutures during neonatal period is associated with midface hypoplasia, the present study suggests that the progressive postnatal fusion of the cranial synchondrosis also contributes to craniofacial dysmorphology in mouse models of syndromic CS. These morphological trajectories increase our understanding of the progression of syndromic CS skull growth.

The use of OCT to detect signs of intracranial hypertension in patients with sagittal suture synostosis: Reference values and correlations

PurposeTo obtain pediatric normative reference values and determine whether optical coherence tomography (OCT) corresponds better with clinical signs of intracranial hypertension (ICH) compared to the traditional screening method fundoscopy in a large cohort of one type of single suture craniosynostosis.MethodsControl subjects without optic nerve diseases and isolated sagittal synostosis patients aged 3–10 years who underwent fundoscopy and OCT were included in this prospective cohort study. Normative reference values were obtained through bootstrap analysis. Main outcome was the association between peripapillary total retinal thickness (TRT) and total retinal volume (TRV) and appearance on fundoscopy. Signs and symptoms suggestive of ICH, including skull growth arrest, fingerprinting, and headache, were scored.ResultsSixty-four healthy controls and 93 isolated sagittal synostosis patients were included. Normative cut-off values for mean TRT are < 256 μm and > 504 μm and for mean TRV < 0.21 mm3 and > 0.39 mm3. TRT was increased in 16 (17%) and TRV in 15 (16%) of 93 patients, compared to only 4 patients with papilledema on fundoscopy (4%). Both parameters were associated with papilledema on fundoscopy (OR = 16.7, p = 0.02, and OR = 18.2, p = 0.01). Skull growth arrest was significantly associated with abnormal OCT parameters (OR = 13.65, p < 0.01).ConclusionsThe established cut-off points can be applied to screen for ICH in pediatrics. The present study detected abnormalities with OCT more frequent than with fundoscopy, which were associated with skull growth arrest. Therefore, a combination of OCT, fundoscopy, and skull growth arrest can improve clinical decision-making in craniosynostosis.