Cases Of Craniosynostosis Research Articles

CLINICAL AND MOLECULAR CHARACTERIZATION OF A PATIENT WITH SYNDROMIC CRANIOSYNOSTOSIS, A CASE REPORT

Introduction: Craniosynostosis is a craniofacial disorder characterized by premature fusion of one or more cranial sutures, inhibiting bone growth perpendicular to the affected suture. In syndromic craniosynostosis, anomalies of the limbs, heart and central nervous system may be present, in addition to genetic mutations affecting the cranial vault. Its etiology is associated with paternal age, teratogenic factors and external pressure on the skull; the main genes causing syndromic craniosynostosis are the growth factor receptors (FGFR1, FGFR2, and FGFR3, TWIST1 and EFNB1), for these reasons it is of utmost importance to recognize the existing types of syndromic craniosynostosis, and its clinical and molecular characteristics to reach an optimal and accurate diagnosis. Objective: to present the clinical and molecular characterization of an individual with syndromic craniosynostosis in a case. Methodology:an objective description of the clinical case and a review with analysis of a total of 24 articles, including review and original articles, as well as clinical cases, of which 18 bibliographies were used because the other articles were not relevant to this study. The sources of information were indexed journals as well as search engines such as PubMed, Google Scholar and Cochrane; the terms used to search for information were: syndrome, craniosynostosis, gene, mutation, FGFR. Results: the present report shows a clinical case of syndromic craniosynostosis. The diagnosis was made during an evaluation by means of radiographic analysis in a 15-year-old female patient, and corroborated by genetic blood tests with the following results: heterozygous variant at position 755 of the c.DNA, where a variant in Cytosine is visualized by a Guanine. This determines a change at the level of the FGFR2 protein. Conclusions: the case report describes the clinical and molecular diagnosis of a 15-year-old female patient, revealing a heterozygous genetic variant in the FGFR2 gene (c.755>G), associated with changes in the FGFR2 protein. This finding is relevant, as similar variants have not been reported in Ecuador or South America, underscoring the need for further research on syndromic craniosynostosis and Apert syndrome. A multidisciplinary approach to treatment is recommended, involving various medical specialties to ensure proper brain development and improved esthetics. In addition, the existence of similar cases in Indonesia and Congo is mentioned, suggesting a possible founder effect related to the migration of people with character. KEY WORDS: syndrome, craniosynostosis, gene, mutation, FGFR

Visual Prognosis in Craniosynostosis Patients: A 20-year Retrospective Cohort Study at a Tertiary Referral Center in Thailand

Objective: This study aims to evaluate the visual prognosis in craniosynostosis patients in order to identify ophthalmologic manifestations in craniosynostosis patients and strabismus surgery outcomes in these patients. Materials and Methods: The medical record charts of craniosynostosis patients were reviewed retrospectively from January 2000 to June 2023. All the relevant patient data, such as age, sex, visual acuity, ophthalmologic examinations, and strabismus surgery outcomes were recorded. Results: In total, 123 patients were included in the study, among whom 65 (52.84%) were male. Overall, there were 70 cases (56.91%) of non-syndromic craniosynostosis, and 53 cases of syndromic craniosynostosis, comprising Crouzon syndrome (15 cases), Apert syndrome (8 cases), Pfeiffer syndrome (2 cases), and other syndromes (28 cases). The mean age at first examination was 3.11 years old. Out of 107 cases with visual impairment at the first visit, 92 (85.98%) showed no visual impairment at the last visit. Among the 87 patients with strabismus, 28 (32.18%) had strabismus at the primary position, with exotropia being the most common type (18 cases). Eight cases underwent strabismus surgery, and 4 cases achieved success (deviation < 10 prism diopters). Other ophthalmologic manifestations were lagophthalmos, exposure keratopathy, ptosis, proptosis, and nasolacrimal duct obstruction. Conclusion: Among the craniosynostosis cases, 85.98% had no visual impairment, with the common ophthalmologic manifestations being refractive errors, strabismus, lagophthalmos, and exposure keratopathy. The syndromic craniosynostosis cases showed worse visual outcomes and a higher incidence of ocular diseases than non-syndromic cases. The success rate for strabismus surgery in craniosynostosis patients was 50%.

Enhancing educational experience through establishing a VR database in craniosynostosis: report from a single institute and systematic literature review.

Craniosynostosis is a type of skull deformity caused by premature ossification of cranial sutures in children. Given its variability and anatomical complexity, three-dimensional visualization is crucial for effective teaching and understanding. We developed a VR database with 3D models to depict these deformities and evaluated its impact on teaching efficiency, motivation, and memorability. We included all craniosynostosis cases with preoperative CT imaging treated at our institution from 2012 to 2022. Preoperative CT scans were imported into SpectoVR using a transfer function to visualize bony structures. Measurements, sub-segmentation, and anatomical teaching were performed in a fully immersive 3D VR experience using a headset. Teaching sessions were conducted in group settings where students and medical personnel explored and discussed the 3D models together, guided by a host. Participants' experiences were evaluated with a questionnaire assessing understanding, memorization, and motivation on a scale from 1 (poor) to 5 (outstanding). The questionnaire showed high satisfaction scores (mean 4.49 ± 0.25). Participants (n = 17) found the VR models comprehensible and navigable (mean 4.47 ± 0.62), with intuitive operation (mean 4.35 ± 0.79). Understanding pathology (mean 4.29 ± 0.77) and surgical procedures (mean 4.63 ± 0.5) was very satisfactory. The models improved anatomical visualization (mean 4.71 ± 0.47) and teaching effectiveness (mean 4.76 ± 0.56), with participants reporting enhanced comprehension and memorization, leading to an efficient learning process. Establishing a 3D VR database for teaching craniosynostosis shows advantages in understanding and memorization and increases motivation for the study process, thereby allowing for more efficient learning. Future applications in patient consent and teaching in other medical areas should be explored.

Intraoperative Intracranial Pressure Changes in Children With Craniosynostosis Undergoing Endoscopic-Assisted Strip Craniectomy.

Craniosynostosis can lead to progressive cranial and skull base deformities and can be associated with increased intracranial pressure (ICP), ophthalmological manifestations, behavioral changes, and developmental delay. Most published data on the incidence of elevated ICP include older children undergoing open surgical correction. Endoscopic-assisted release of fused sutures with postoperative helmet therapy is an established method for managing craniosynostosis presenting at an early age; however, the immediate effect of this approach on ICP in a young cohort has not been previously reported. Prospective data on 52 children undergoing endoscopic-assisted release of stenosed cranial sutures were included. Individuals were excluded if they underwent open correction or had previous cranial surgery. Individuals underwent a standardized endoscopic approach for each suture type. ICP was measured using an intraparenchymal sensor both before creation of the neosuture and after complete release of the stenosed suture. An ICP reading of >10 mm Hg was considered elevated. The mean age was 5.3 months, range 1 to 32 months, and 94% was younger than 12 months. The mean opening pressure was 12.7 mm Hg, and the mean closing pressure was 2.9 mm Hg. Opening ICP ≥10 mm Hg was present in 58%, ≥15 mm Hg was present in 31%, and ≥20 mm Hg was present in 23%. No patient had an ICP above 10 mm Hg at closing. The mean percentage change in ICP among all craniosynostosis cases was a 64% decrease. Optic disk swelling was identified in 28 children preoperatively and improved in 22 children at follow-up. Elevated ICP may occur in infants with craniosynostosis at higher rates than previously reported. Endoscopic-assisted craniectomy has an immediate effect on lowering ICP and improving postoperative ophthalmological findings.

The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.

Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with craniosynostosis have emerged, in particular in cases with premature closure of the coronal suture(s). In this study, we, therefore, systematically reviewed the rapidly growing knowledge of TCF12-related coronal craniosynostosis, clearly illustrating its high degree of genotype and phenotype variability. With the two novel cases presented, at least 113 cases of TCF12-related coronal craniosynostosis have currently been reported. By pooling data from several prospectively collected undifferentiated craniosynostosis cohorts (ntotal = 770), we estimate a prevalence of pathogenic TCF12 variants of at least 2%. Overall, pathogenic germline variants in TCF12 are relatively frequent in children with coronal craniosynostosis, accounting for ∼10-20% of TWIST1- and FGFR1/2/3-negative cases, with even higher rates for bicoronal and syndromic cases. Genetic counseling is recommended for all children with craniosynostosis, and involvement of the coronal suture(s) should precipitate TCF12 testing.

AXIN1 mutations in nonsyndromic craniosynostosis.

Occurring once in every 2000 live births, craniosynostosis (CS) is the most frequent cranial birth defect. Although the genetic etiologies of syndromic CS cases are well defined, the genetic cause of most nonsyndromic cases remains unknown. The authors analyzed exome or RNA sequencing data from 876 children with nonsyndromic CS, including 291 case-parent trios and 585 additional probands. The authors also utilized the GeneMatcher platform and the Gabriella Miller Kids First genome sequencing project to identify additional CS patients with AXIN1 mutations. The authors describe 11 patients with nonsyndromic CS harboring rare, damaging mutations in AXIN1, an inhibitor of Wnt signaling. AXIN1 regulates signaling upstream of key mediators of osteoblast differentiation. Three of the 6 mutations identified in trios occurred de novo in the proband, while 3 were transmitted from unaffected parents. Patients with nonsyndromic CS were highly enriched for mutations in AXIN1 compared to both expectation (p = 0.0008) and exome sequencing data from > 76,000 healthy controls (p = 2.3 × 10-6), surpassing the thresholds for genome-wide significance. These findings describe the first phenotype associated with mutations in AXIN1, with mutations identified in approximately 1% of nonsyndromic CS cases. The results strengthen the existing link between Wnt signaling and maintenance of cranial suture patency and have implications for genetic testing in families with CS.

Application of Computerized Surgical Planning in Craniosynostosis Surgery.

Craniosynostosis, a medical condition characterized by premature fusion of one or multiple cranial sutures, has historically been treated through surgical correction. Computerized Surgical Planning (CSP) and three-dimensional (3D) modeling have gained significant popularity across craniofacial surgery. Through a collaborative effort between surgeons and engineers, it is now possible to virtually execute a surgical plan based on preoperative imaging using computed tomography scans. The CSP workflow involves several elements including virtual 3D modeling, CSP computer-aided surgical guide design, manufacturing of guides and templates, and intraoperative implementation. Through the gradual optimization of this workflow, it has been possible to achieve significant progress in the surgical process including improvements in the preoperative planning of complex craniosynostosis cases and reduction of intraoperative time. Furthermore, CSP and 3D modeling have had a positive impact on surgical simulation and residency training, along with patient education and counseling. This article summarizes the CSP workflow in the treatment of craniosynostosis and the implications of this treatment modality on medical trainee education and patient management.

Developmental outcomes of preschool children requiring craniosynostosis surgery in Manitoba: a cohort study

Abstract Craniosynostosis is a congenital abnormality resulting in the premature fusion of one or more cranial sutures and usually requires surgical correction in the first year of life. While the majority of craniosynostosis cases represent isolated, nonsyndromic defects, approximately 25% are linked to a genetic diagnosis. Craniosynostosis has been associated with developmental delay. Therefore, historically in Manitoba, all children with surgically managed craniosynostosis were referred to the Child Development Clinic (CDC) for developmental assessment. There are currently prolonged wait times for neurodevelopmental assessments at CDC, leading to the need to better prioritize children who require neurodevelopmental assessment. The aim of the study was then to determine the developmental outcomes of preschool children requiring craniosynostosis surgery in Manitoba from July 1, 2016 through December 1, 2021. In this retrospective cohort study, clinical records were reviewed to evaluate the developmental outcomes of patients who were assessed at CDC for surgically managed craniosynostosis. Out of 67 children included in this study, 18% demonstrated global developmental delay, 24% demonstrated mild developmental delay, and 58% were developmentally appropriate across all levels. The presence of a genetic syndrome, multisutural craniosynostosis, and parental socioeconomic status were associated with risk of global developmental delay. The findings of this study suggest that while not all children with craniosynostosis present with developmental delay, those with suspected or confirmed syndromic involvement, multisutural cranyosinostosis, and/or low SES, should be referred for neurodevelopmental evaluation.

Factors associated with late surgical correction of craniosynostosis: A decade-long review of the United States nationwide readmission database

Late-repair craniosynostosis (LRC), defined as craniosynostosis surgery beyond 1 year of age, is often associated with increased complexity and potential complications. Our study analyzed data from the 2010–2019 Nationwide Readmissions Database to investigate patient factors related to LRC.Of 10 830 craniosynostosis repair cases, 17% were LRC. These patients were predominantly from lower-income families and had more comorbidities, indicating that socioeconomic status could be a significant contributor. LRC patients were typically treated at teaching hospitals and privately owned investment institutions. Our risk-adjusted analysis revealed that LRC patients were more likely to belong to the lowest-income quartile, receive treatment at privately owned investment hospitals, and use self-payment methods. Despite these challenges, the hospital stay duration did not significantly differ between the two groups. Interestingly, LRC patients faced a higher predicted mean total cost compared with those who had surgery before turning 1. This difference in cost did not translate to a longer length of stay, further emphasizing the complexity of managing LRC.These findings highlight the urgent need for earlier intervention in craniosynostosis cases, particularly in lower-income communities. The medical community must strive to improve early diagnosis and treatment strategies in order to mitigate the socioeconomic and health disparities observed in LRC patients.

Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study.

Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population-based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends. We collected the data from nationwide registers maintained by the Finnish Institute for Health and Welfare and Statistics Finland, as well as treating hospitals, encompassing live births, stillbirths, terminations for fetal anomalies, and infant deaths with suspected or diagnosed craniosynostosis or skull deformation. A craniofacial surgeon and a clinical geneticist reviewed 1878 medical records for diagnostic confirmation. Out of 877 craniosynostosis cases, 83% were single-suture synostoses (all live births), 10% craniosynostosis syndromes, and 7% multisutural non-syndromic synostoses. Live birth prevalence from 1987 to 2010 was 6.0/10,000 live births, ranging from 5.0/10,000 in 1987 to 7.5/10,000 in 2010. Total prevalence, including live births, stillbirths, and terminations, varied from 5.0/10,000 in 1987 to 8.0/10,000 in 2010. Sagittal synostosis was the most common synostosis, with a prevalence of 3.9/10,000 live births, followed by metopic (0.6/10,000), unicoronal (0.4/10,000), and unilambdoid (0.1/10,000) synostoses. The total combined prevalence of all craniosynostosis types significantly increased driven by a nonsignificant rise across all subgroups and a significant increase in the syndrome group. In live births increase was significant only within the syndrome subgroup, primarily due to an increase in Muenke syndrome patients. The rising prevalence of syndromes necessitates further investigation. Contrasting with trends in Europe, Australia, and the USA, Finland showed no significant increase in metopic craniosynostosis.

A importância da antropometria e semiologia craniana para o diagnóstico precoce da trigonocefalia: relato de caso

Trigonocephaly is a type of craniosynostosis in which there is premature closure of the metopic suture, in order to determine an abnormal growth of the skull. In a minority of cases, trigonocephaly can cause increased intracranial pressure and the onset of neurological disorders. When present, these complications can be prevented or mitigated if the diagnosis and treatment occur between 6 and 12 months of life. The objective of the study is to report a case of craniosynostosis in an infant and reaffirm the importance of anthropometry and cranial semiology. On physical examination, a 4-month-old infant had a head circumference: 41 cm, metopic suture mounted, biparietal diameter: 23 cm, fronto-occipital diameter: 28 cm. Cranial computed tomography with 3D reconstruction confirmed the diagnosis of trigonocephaly, and he was referred to pediatric surgery. The study was submitted to the Human Research Ethics Committee approved under CAAE number 53607821.7.0000.5237. The diagnosis of trigonocephaly is made through the analysis of anthropometric measurements of the skull, represented by the head circumference, anteroposterior distance and binaural distance, and confirmed through computed tomography with 3D reconstruction. In pediatric practice, it is common to only measure the head circumference, which is often normal, with changes only in the anteroposterior and binaural distances. Consequently, there is a delay in the diagnosis of craniosynostosis. Thus, the importance of routinely measuring the three anthropometric measurements of the skull is emphasized for the early diagnosis of craniosynostosis and for the prevention and reduction of its complications, even though they are rare.

Re-imagining early cloverleaf skull deformity management from front to back approach-30years on.

The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due to the requirement for frequent reoperation on the cranial vault and failure to deal with all the elements of the craniofaciostenosis in a timely fashion. Early cranial vault surgery without addressing the cranial base deformity and its attendant cerebrospinal fluid flow changes is invariably challenging and disappointing. A recent focus on the expansion of the posterior cranial vault as a primary procedure with the greater volume change allows a delay in fronto-orbital advancement and reduced need for repeat surgery. We herein describe three cases of complex multisuture craniosynostosis with cloverleaf skull deformity who underwent neonatal posterior cranial vault decompression along with foramen magnum decompression. Our report examines the safety and rationale for this pre-emptive surgical approach to simultaneously deal with the cranial vault and craniocervical junction abnormalities and thus change the early trajectory of these complex cases.

Characterization of Regional Morphological Changes in Metopic Craniosynostosis Following Endoscopic Strip Craniectomy With Postoperative Helmeting: Predictors for Success

Background: Metopic craniosynostosis (MC) represents 10% to 25% of craniosynostosis cases. Endoscopic-assisted strip craniectomy (ESC) with orthotic molding therapy provides a minimally invasive alternative to open fronto-orbital advancement. Herein, we describe a 3D photogrammetry methodology for measurement of regional cranial growth and inter-frontal angle (IFA) as well as examine factors that may contribute to successful outcomes after ESC. Methods: A retrospective review was performed on patients with MC treated with ESC and band therapy from 2015 to 2019. Patients obtained 3D photogrammetry preoperatively, postoperatively, and post-helmet therapy. A survey was administered to 14 independent raters, who were asked to determine treatment success based on subjective visual assessment of preoperative and post-banding images. Patients were considered to have successful therapy when ≥75% of raters were in agreeance. Results: Thirteen patients met inclusion criteria. Average age at surgery was 3.5 months, with 53.9% of these patients deemed as a successful outcome on aggregate reviewer scores. For patients with successful treatment, there was a trend toward younger at surgery (2.9 months vs 4.2 months, P = .09) and at initiation of helmeting (3.3 months vs 4.8 months, P = .07). Regional root mean square identified significant differences between frontal and temporal (14.04 mm vs 7.39 mm, P = .02) and temporal and parietal (7.39 mm vs 15.37 mm, P = .002) regions. Average postoperative IFA was significantly improved compared to preoperative values (128.19° vs 117.9°, P = .02). Logistic regression modeling found no significant predictors of success. Discussion: Though not statistically significant, patients with MC with successful outcomes following ESC and banding were younger at surgery and time of helmeting. Our analysis of regional cranial growth and IFA demonstrated significant differences, which coincide with expected morphologic changes in this patient population. Our results demonstrate the potential for this technology in surgical evaluation and support the importance of early diagnosis and treatment by craniofacial surgeons.

Incorporation of a biparietal narrowing metric to improve the ability of machine learning models to detect sagittal craniosynostosis with 2D photographs.

Sagittal craniosynostosis is the most common form of craniosynostosis and typically results in scaphocephaly, which is characterized by biparietal narrowing, compensatory frontal bossing, and an occipital prominence. The cephalic index (CI) is a simple metric for quantifying the degree of cranial narrowing and is often used to diagnose sagittal craniosynostosis. However, patients with variant forms of sagittal craniosynostosis may present with a "normal" CI, depending on the part of the suture that is closed. As machine learning (ML) algorithms are developed to assist in the diagnosis of cranial deformities, metrics that reflect the other phenotypic features of sagittal craniosynostosis are needed. In this study the authors sought to describe the posterior arc angle (PAA), a measurement of biparietal narrowing that is obtained with 2D photographs, and elucidate the role of PAA as an adjuvant to the CI in characterizing scaphocephaly and the potential relevance of PAA in new ML model development. The authors retrospectively reviewed 1013 craniofacial patients treated during the period from 2006 to 2021. Orthogonal top-down photographs were used to calculate the CI and PAA. Distribution densities, receiver operating characteristic (ROC) curves, and chi-square analyses were used to describe the relative predictive utility of each method for sagittal craniosynostosis. In total, 1001 patients underwent paired CI and PAA measurements and a clinical head shape diagnosis (sagittal craniosynostosis, n = 122; other cranial deformity, n = 565; normocephalic, n = 314). The area under the ROC curve (AUC) for the CI was 98.5% (95% confidence interval 97.8%-99.2%, p < 0.001), with an optimum specificity of 92.6% and sensitivity of 93.4%. The PAA had an AUC of 97.4% (95% confidence interval 96.0%-98.8%, p < 0.001) with an optimum specificity of 94.9% and sensitivity of 90.2%. In 6 of 122 (4.9%) cases of sagittal craniosynostosis, the PAA was abnormal while the CI was normal. This means that adding a PAA cutoff branch to a partition model increases the detection of sagittal craniosynostosis. Both CI and PAA are excellent discriminators for sagittal craniosynostosis. Using an accuracy-optimized partition model, the addition of the PAA to the CI increased model sensitivity compared to using the CI alone. Using a model that incorporates both CI and PAA could assist in the early identification and treatment of sagittal craniosynostosis via automated and semiautomated algorithms that utilize tree-based ML models.

Posterior Cranial Retraction Combined With Bilateral Parietal Distraction for Children With Nonsyndromic Craniosynostosis.

The nonsyndromic craniosynostosis is the most common of craniosynostoses in childhood. There are many treatments. We aim to treat 12 cases of nonsyndromic craniosynostosis via posterior cranial vault distraction osteogenesis combined with bilateral parietal distraction. Data of a total of 12 patients (7 boys and 5 girls) with nonsyndromic sagittal synostosis who underwent distraction osteogenesis between January 2015 and August 2020 were retrospectively analyzed. Bilateral parietal bone flaps and posterior occipital flaps were designed and cut. Then, distraction device was placed, which was distracted at 5 days after surgery (twice per day, 0.4-0.6 mm/d, and lasting for 10-15 days). After 6 months of fixation, the secondary surgery was performed to remove the device. The scaphocephaly was corrected, and the appearance was satisfactory. Postoperative follow-up time was 6 to 14 months, with an average of 10 months, and the mean CI was 63.2 and 78.25 before and after surgery, respectively; the mean anterior-posterior skull diameter was shortened (12.63 ± 3.47) mm, the transverse diameter of both temporal regions was lengthened (15.4 ± 4.18) mm, and the scaphocephalic deformity was significantly improved. There was no detachment or rupture of the extender postoperatively. No severe complications, such as radiation necrosis or intracranial infection, were observed. Posterior cranial retraction combined with bilateral parietal distraction in children with nonsyndromic craniosynostosis, in which the proposed technique did not exhibit severe complications, and it is worthy of further promotion and application in clinical practice.

A importância da antropometria e semiologia craniana para o diagnóstico precoce da Trigonocefalia: Relato de caso

Trigonocephaly is a type of craniosynostosis in which there is premature closure of the metopic suture, in order to determine an abnormal growth of the skull. In a minority of cases, trigonocephaly can cause increased intracranial pressure and the onset of neurological disorders. When present, these complications can be prevented or mitigated if the diagnosis and treatment occur between 6 and 12 months of life. The objective of the study is to report a case of craniosynostosis in an infant and reaffirm the importance of anthropometry and cranial semiology. On physical examination, a 4-month-old infant had a head circumference: 41 cm, metopic suture mounted, biparietal diameter: 23 cm, fronto-occipital diameter: 28 cm. Cranial computed tomography with 3D reconstruction confirmed the diagnosis of trigonocephaly, and he was referred to pediatric surgery. The study was submitted to the Human Research Ethics Committee approved under CAAE number 53607821.7.0000.5237. The diagnosis of trigonocephaly is made through the analysis of anthropometric measurements of the skull, represented by the head circumference, anteroposterior distance and binaural distance, and confirmed through computed tomography with 3D reconstruction. In pediatric practice, it is common to only measure the head circumference, which is often normal, with changes only in the anteroposterior and binaural distances. Consequently, there is a delay in the diagnosis of craniosynostosis. Thus, the importance of routinely measuring the three anthropometric measurements of the skull is emphasized for the early diagnosis of craniosynostosis and for the prevention and reduction of its complications, even though they are rare.

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.

Double curve linear incision approach in cases of sagittal craniosynostosis

Craniosynostosis is the premature fusion of one or more sutures in the cranial dome or anterior skull base, resulting in an abnormal head shape. This pathological process is observed less frequently in Eastern geography and approximately one in 2000 to 2500 births in Western countries. Isolated sagittal synostosis accounts for more than half of craniosynostosis cases. In our study, the duration of surgery, duration of anaesthesia, duration of hospital stay, estimated amount of bleeding during surgery and the months of surgery were examined in 16 patients. The performed craniotomy is not different from the four different craniotomies described in the literature. Strip craniectomy and barrel osteotomy were performed on each patient. According to the incisions described in the literature, the incision type and location are different. As the described incision provides less skin dissection, less bleeding and less dead space formation allows surgery in earlier months.

Relating Metopic Severity to Mid-term Aesthetic Outcomes: A Machine Learning Approach

PURPOSE: Aesthetic deterioration after surgical treatment of metopic craniosynostosis may manifest as bitemporal hollowing (TH), lateral orbital retrusion (LOR), or frontal bone irregularities (FBI). Patients with these complications have reoperation rates of 18-46%. To date, there have been few longitudinal studies assessing the effect of pre-operative dysmorphology on aesthetic outcomes in this cohort. This study evaluates the relationship between metopic severity, including the use of CranioRateTM, a novel metopic synostosis severity measure, and mid-term aesthetic outcomes. MATERIALS AND METHODS: Patients with non-syndromic metopic craniosynostosis who underwent bi-frontal orbital advancement and remodeling (BFOAR) between 2012 and 2017 were reviewed. Metopic synostosis severity was determined based on pre-operative CT assessment of IFA and CranioRateTM. CranioRateTM is a machine learning algorithm trained to recognize morphologic features of metopic synostosis and generate quantitative severity ratings including metopic severity score (MSS) and cranial morphology deviation (CMD). Frontal and lateral photographs of patients with at least four years post-operative follow-up were assessed by attending craniofacial surgeons using masked three-rater aesthetic grading of clinical photos (n=39). Graders assessed Whitaker score as well as the presence of TH, LOR, FBI, or a ‘catch-all’ category of visible irregularities. Binary logistic regression was used to assess predictors of TH, LOR, FBI, and VI. Multinomial logistic regression was used to assess predictors of Whitaker classification. RESULTS: The average age at preoperative CT scan was 7.7 ± 3.4 months and the average age at BFOAR was 9.9 ± 3.1 months. The average MSS was 6.3 ± 2.7 out of 10 and average CMD was 200.4 ± 44.7 out of 300. Average IFA for the cohort was 116.8° ± 13.8° (range 93° - 138°). The average time from operation to aesthetic assessment was 5.4 ± 1.0 years (range 4.1 – 7.8 years). ‘Any visible irregularity’ was present in 87.2% (n = 34) of patients, temporal hollowing in 76.9% (n = 30), frontal bone irregularities in 61.5% (n = 24), and lateral orbital retrusion in 20.5% (n = 8). Most patients received a median Whitaker classification of II (61.5%, n =24), followed by class III (23.1%, n = 9). There was a significant association between MSS and age at CT scan, with younger patients having more severe metopic severity scores (r = -.451, p = .004). Similarly, MSS and IFA were negatively associated, with a higher MSS correlating to a lower IFA (r = -.371, p = .034). MSS was found to be the only independent predictor of visible irregularities (OR 2.18, B = .780, p = .024). Decreased age at surgery (OR, 1.08; 95% CI, 1.05 to 2.6, p = .002) and increased length of follow up (OR, 1.59; 95% CI, 1.59 to 3.54, p <.001) were significantly associated with a worse median Whitaker score. No impact of surgical technique, including parietal bone graft use or interpositional bone graft size, was demonstrated (p > .05 for both). CONCLUSION: More severe cases of metopic craniosynostosis show increased rates of cumulative aesthetic dysmorphologies. Measures of pre-operative metopic severity are predictive of mid-term aesthetic outcomes.

ERN CRANIO patient coverage of craniosynostosis in Europe

BackgroundAgainst the backdrop of the European Directive on patients’ rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working together to support patients with rare and/or complex diseases. ERN CRANIO is the ERN for craniofacial anomalies and ear, nose and throat disorders. The aim of this study was to explore ERN CRANIO’s patient coverage of craniosynostosis.MethodsERN CRANIO members and applicants were asked to retrospectively report the number of ‘new craniosynostosis patients’ (isolated and syndromic) seen in 2017. The number of live births per country in 2017 was retrieved from EUROSTAT, the EU’s statistical office. The number of new patients reported per country and the number of live births were used to generate country-specific prevalence figures per 10,000 live births. These figures were compared to expected prevalence ranges for craniosynostosis, and syndromic craniosynostosis specifically, defined by recent European studies. The percentage of syndromic craniosynostosis cases per country was also compared to the expected percentage range.ResultsBased on previous studies, the expected prevalence ranges for craniosynostosis and syndromic craniosynostosis specifically were respectively defined as 4.4–7.2 and 0.9–1.6 patients/10,000 live births. For craniosynostosis (‘total’; isolated + syndromic), 'new patient' data from the UK and Finland generated prevalence figures within the expected range, and those in France, Spain, Italy, Portugal and Germany are lower than expected. However, when including applicant data, the prevalence figures for France, Spain and Italy become in range. Data from the Netherlands and Sweden generated higher prevalence figures than expected. For France, Finland, Italy and Sweden, there is inconsistency between patient coverage of ‘total’ and syndromic patients. For France, Germany, Finland and Italy, the percentage of syndromic craniosynostosis was lower than the expected range.ConclusionERN CRANIO’s coverage of craniosynostosis varies across Europe. Results may be explained by data collection methods, genetic testing policies and/or national healthcare systems. With centre caseload a driving force for quality, additional ERN membership calls may not necessarily ensure sufficient patient coverage for countries with decentralised healthcare systems. Liaison with national health ministries should be encouraged to optimise patient coverage.