Association of cranial base suture/synchondrosis fusion with severity of increased intracranial pressure in Crouzon syndrome.

This study investigated how the fusion states of the cranial base is related to the degree of increased intracranial pressure (ICP) in patients with Crouzon syndrome. This retrospective cohort study enrolled patients who were diagnosed with Crouzon syndrome between May 2007 and April 2022. We categorized the patients into three groups: A, B, and C, according to the severity of increased ICP and the number of cranial vault remodeling procedures for corrective operation. The preoperative fusion states of the cranial base sutures/synchondroses were examined using facial bone computed tomography and compared between groups. Overall, 22 patients were included in Groups A, B, and C, including 8, 7, and 7 patients, respectively. The preoperative average grades of the total cranial base suture/synchondrosis fusion appeared to significantly increase with severity, except for the frontoethmoidal suture, which showed the opposite tendency. In the subgroup analysis, frontosphenoidal, sphenoparietal, sphenosquamosal, parietomastoid, and occipitomastoid suture and petro-occipital synchondrosis were associated with earlier fusion in the more severe group. Premature closure of the cranial base sutures/synchodroses seems to be associated with increased ICP severity in patients with Crouzon syndrome. Precise evaluation of minor sutures/synchondroses at the first visit might help build subsequent operative plans and predict disease prognosis.

Multiscale mechanical characterisation of the craniofacial system under external forces.

Premature fusion of craniofacial joints, i.e. sutures, is a major clinical condition. This condition affects children and often requires numerous invasive surgeries to correct. Minimally invasive external loading of the skull has shown some success in achieving therapeutic effects in a mouse model of this condition, promising a new non-invasive treatment approach. However, our fundamental understanding of the level of deformation that such loading has induced across the sutures, leading to the effects observed is severely limited, yet crucial for its scalability. We carried out a series of multiscale characterisations of the loading effects on normal and craniosynostotic mice, in a series of in vivo and ex vivo studies. This involved developing a custom loading setup as well as software for its control and a novel in situ CT strain estimation approach following the principles of digital volume correlation. Our findings highlight that this treatment may disrupt bone formation across the sutures through plastic deformation of the treated suture. The level of permanent deformations observed across the coronal suture after loading corresponded well with the apparent strain that was estimated. This work provides invaluable insight into the level of mechanical forces that may prevent early fusion of cranial joints during the minimally invasive treatment cycle and will help the clinical translation of the treatment approach to humans.

What can a morphometric study of unoperated children teach us about the natural history of metopic synostosis?

OBJECTIVE: Outcomes of surgical repair of trigonocephaly are well reported in the literature, but there is a paucity of information on the natural history of unoperated children. The authors evaluated a group of unoperated children with metopic synostosis to describe the natural change in head shape over time. METHODS: A database was screened for scans of children with unoperated trigonocephaly (2010-2021). Multisuture cases and those with a metopic ridge were excluded. Three-dimensional surface scans (3D stereophotogrammetry/CT) were used for morphological analysis. Nine previously published parameters were used: frontal angle (FA30°), anteroposterior (AP) volume ratio (APVR), AP area ratio (APAR), AP width ratios 1 and 2 (APWR1 and APWR2), and 4 AP diagonal ratios (30° right APDR [rAPDR30], 30° left APDR [lAPDR30], 60° right APDR [rAPDR60], and 60° left APDR [lAPDR60]). RESULTS: Ninety-seven scans were identified from a cohort of 316 patients with a single metopic suture, in which the male-to-female ratio was 2.7:1. Ages at the time of the scan ranged from 9 days to 11 years and were stratified into 4 groups: group 1, < 6 months; group 2, 6-12 months; group 3, 1-3 years; and group 4, > 3 years. Significant improvements were detected in 5 parameters (APVR, APAR, APWR1, rAPDR30, and lAPDR30) over time, whereas no significant differences were found in FA30, APWR2, rAPDR60, and lAPDR60 between age groups. CONCLUSIONS: Forehead shape (surface area and volume), as well as narrowing and anterolateral contour at the frontal points, differed significantly over time without surgery. However, forehead angulation, narrowing, and anterolateral contour at temporal points did not show significant differences. This knowledge will aid in surgical and parental decision-making.

Improved Facial and Skull-Base Symmetry following Osteotomy and Distraction of Unilateral Coronal Synostosis.

BACKGROUND: Unilateral coronal synostosis (UCS) results in a surgically demanding deformation, as the deformity is asymmetric in the calvaria but also presents with facial scoliosis and orbital dystopia. Traditional cranioplasties correct the forehead but have little effect on the face and orbits. In this article, the authors describe a consecutive series of patients operated on for UCS with osteotomy of the fused suture combined with distraction osteogenesis. METHODS: Fourteen patients (mean age, 8.0 months; range, 4.3 to 16.6 months) were included in this study. The authors measured and compared the orbital dystopia angle, anterior cranial fossa deviation, and anterior cranial fossa cant between preoperative computed tomography results and those at distractor removal. RESULTS: Blood loss was 6.1 mL/kg (range, 2.0 to 15.2 mL/kg), and length of stay was 4.4 days (range, 3.0 to 6.0 days). The authors observed significant improvements in the median orbital dystopia angle from 9.8 degrees (95% CI, 7.0 to 12.6 degrees) to 1.1 degrees (95% CI, -1.5 to 3.7 degrees) ( P < 0.001), anterior cranial fossa deviation from 12.9 degrees (95% CI, 9.2 to 16.6 degrees) to 4.7 degrees (95% CI, 1.5 to 7.9 degrees) ( P < 0.001), and anterior cranial fossa cant from 2.5 degrees (95% CI, 1.5 to 3.5 degrees) to 1.7 degrees (95% CI, 0.0 to 3.4 degrees) ( P = 0.003). CONCLUSIONS: Osteotomy combined with a distractor for UCS straightened the face and relieved orbital dystopia by affecting the nose angle relative to the orbits, correcting the deviation of the cranial base in the anterior fossa, and lowering the orbit on the affected side. Furthermore, this technique demonstrated a favorable morbidity profile with low perioperative bleeding and a short inpatient period, suggesting its potential to improve the surgical treatment of UCS. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Surgical Treatment of Trigonocephaly, Simplified Technique for Moderate Cases.

BACKGROUND: The prevalence of trigonocephaly has increased worldwide over the past 2 decades. Early identification and appropriate treatment are critical. The aim of this study is to evaluate the outcomes and the effect of metopic suture excision, perisutural frontal bone shave, and bilateral pericranial flap method on the shape of the forehead after surgical correction in infants with moderate trigonocephaly. METHODS: The present study was performed as a cross-sectional study on 40 infants of 3 to 12 months old with trigonocephalus who underwent metopic suture excision and pericardial flap surgery in Mofid Pediatric Hospital from 2016 to 2022. The definitive diagnosis of patients' trigonocephaly was made based on clinical signs and computed tomography scan findings by a plastic surgeon. RESULTS: Overall in 40 patients operated by this technique, 23 (57.5%) of cases were males, and 17 (42.5%) were females. The mean age of patients was 7.86 ± 2.22 months. Hospital stay was 2 to 4 days (mean: 3 d), intensive care unit admission was in 33 cases for 24 hours, and no intensive care unit admission for 7 cases. Blood was transfused during surgery for 25 patients, and 15 patients did not require blood transfusion use. Results were evaluated in 6 to 12 months after surgery by 3 independent plastic surgeons, with pre and postoperative photos. Satisfaction with the results of forehead shape was excellent for 60% of patients, good for 37.5%, and moderate for 2.5%. Only one female patient had a recurrence after the surgery. CONCLUSION: This study showed that the pericranial flap method after full metopic suture excision and frontal shave was very effective in the treatment of infants with moderate trigonocephaly.

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.

The Accuracy of Classification Systems in Nonsyndromic Sagittal Craniosynostosis.

Numerous classification systems of nonsyndromic sagittal craniosynostosis (NSC) are applied but none has gained a wide acceptance, since each classification is focused on distinct aspects. The aim of the study was to assess the accuracy of 4 classifications of NSC discussed in the literature by defining the associations among the classifications, individual features (sex, age, cranial index), and objective morphologic criteria (frontal bossing, retrocoronal constriction, sagittal ridge, and occipital bulleting). The study was conducted on anonymized thin-cut CT scans of 133 children with NSC 1 to 12 months old (mean age 5.42 mo). The type of cranial dysmorphology was assessed using 4 classification systems, focusing on skull shape, pattern of sagittal suture closure (Heuzé classification), deformation of skull vault (Sakamoto classification), and a single-dominant feature (David classification). Each patient was also independently investigated for the presence of morphologic criteria. A multivariate analysis was performed to explore the relations among the classifications and assess their accuracy. In the analyzed cohort sphenocephaly (38.3%), CFF type by Heuzé (30.8%), type I by Sakamoto (72.9%), and a central type by David (42.9%) were dominant findings. Regarding the morphologic criteria, frontal bossing was observed the most frequently (91.7%). The age of patients and cranial index differed significantly among the shapes of skull and David classifications ( P <0.001). The shape-based system showed the strongest correlation with other classifications and with measurable variables. Other classifications have much in common and some overlap, but none of them constitutes a standalone system to define all aspects of cranial dysmorphology in NSC.

Spring-assisted posterior vault expansion: a parametric study to improve the intracranial volume increase prediction.

Spring-assisted posterior vault expansion has been adopted at the London Great Ormond Street Hospital for Children to treat raised intracranial pressure in patients affected by syndromic craniosynostosis, a congenital calvarial anomaly causing the premature fusion of skull sutures. This procedure involves elastic distractors used to dynamically reshape the skull and increase the intracranial volume (ICV). In this study, we developed and validated a patient-specific model able to predict the ICV increase and carried out a parametric study to investigate the effect of surgical parameters on that final volume. Pre- and post-operative computed tomography data relative to 18 patients were processed to extract simplified patient-specific skull shape, replicate surgical cuts, and simulate spring expansion. A parametric study was performed to quantify each parameter's impact on the surgical outcome: for each patient, the osteotomy location was varied in a pre-defined range; local sensitivity of the predicted ICV to each parameter was analysed and compared. Results showed that the finite element model performed well in terms of post-operative ICV prediction and allowed for parametric optimization of surgical cuts. The study indicates how to optimize the ICV increase according to the type of procedure and provides indication on the most robust surgical strategy.

Outcomes of the early endoscopic-assisted suturectomy for treatment of multisuture craniosynostosis.

To present the outcomes and adverse events associated with the endoscopic-assisted, minimally invasive suturectomy in patients with multisuture synostosis. This retrospective cohort study included children < 65 days of age who underwent endoscopic-assisted suturectomy (EAS) for multisuture craniosynostosis at a single tertiary referral center from 2013 to 2021. The primary outcome was calvarial expansion, and the secondary outcome was adverse events. The pre- and post-operative 3-dimensional brain computed tomography (CT) scan was used to calculate the intracranial volume and cephalic index. During a period of 2 years, 10 infants (10-64 days) diagnosed with multisuture synostosis underwent single-stage EAS of every affected suture in our center. The coronal suture was the most prevalent involved suture among our cases. The mean age and weight of the patients were 39 ± 17.5 days and 4.39 ± 0.8 kg, respectively. The surgical procedure took 42 ± 17.4 min of time and caused 46 ± 25.4 mL of bleeding on average. Ninety percent of the operations were considered successful (n = 9) regarding calvarial expansion. There were two complications, one requiring an open vault surgery and one repairing a leptomeningeal cyst. In the eight patients who did not necessitate further interventions, the mean pre-operative intracranial volume was 643.3 ± 189.4 cm3. The follow-up results within the average of 38.9 months after surgery showed that as age increases, the intracranial volume also increased significantly (R: 0.6, P < 0.0001), which suggests continued skull growth in patients who underwent EAS. With the low rate of intra- or post-operative complications and promising results on revising the restricted skull sutures, EAS seems both a safe and effective therapeutic modality in patients with multisuture synostosis, especially if completed in the first months after birth.

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.

Technical evolution of pediatric neurosurgery: craniosynostosis from 1972 to 2023 and beyond.

Very few clinical entities have undergone so many different treatment approaches over such a short period of time as craniosynostosis. Surgical treatments for this condition have ranged from simple linear craniectomies, accounting for the specific role of cranial sutures in assuring the normal growth of the skull, to more complex cranial vault reconstructions, based on the perceived role of the skull base in affecting the growth of the skull. While a great deal of evolution has occurred, there remains controversy regarding the ideal treatment including the best surgical technique, the optimal age for surgery, and the long-term morphological and neurodevelopmental outcomes. The evolution of the surgical management of craniosynostosis in the last 50 years has been affected by several factors. This includes the awareness of needing to operate on affected children during infancy to achieve the best results, the use of multistage operations, the availability of more sophisticated surgical tools, and improved perioperative care. In some forms of craniosynostosis, the operations can be carried out at a very young age with low morbidity, and with the postoperative use of a molding helmet, springs, or distractors, these operations prove to be as effective as traditional larger cranial reconstructions performed in older children. As a consequence, complex surgical operations have become progressively less utilized. A second relevant advance was the more recent advent of a molecular diagnosis, which allowed us to understand the pathogenesis of some associated malformations and neurodevelopmental issues that were observed in some children despite appropriate surgical treatment. Future research should focus on improving the analysis of longer-term outcomes and understanding the natural history of craniofacial conditions, including what issues persist despite optimal surgical correction. Progress in molecular investigations concerning the normal and pathological development of cranial sutures could be a further significant step in the management of craniosynostosis, possibly favoring a "medical" treatment in the near future. Artificial intelligence will likely have a role in establishing the diagnosis with less reliance on radiographic studies and in assisting with surgical planning. Overall, much progress has been made, but there remains much to do.

[An infant with premature closure of cranial sutures due to variant of ERF gene and a literature review].

OBJECTIVE: To analyze the clinical and genetic characteristics of an infant with craniosynostosis. METHODS: An infant who was admitted to Wuhan Children's Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in April 2021 due to widening of the lateral ventricles for over a month was selected as the study subject. Clinical data of the patient was collected. Peripheral blood samples were collected from the infant and her parents for chromosomal karyotyping and whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was retrieved from the PubMed, Wanfang and CNKI databases (up to December 2021) by using key words including ERF gene, craniosynostosis, ERF mutation, craniosynostosis and ERF-related craniosynostosis. RESULTS: The infant, a 1-month-and-16-day-old female, was found to have sagittal synostosis by cranial X-ray radiography. Genetic testing revealed that she has harbored a heterozygous c.787C>T (p.Q263*) variant of the ERF gene, which was not found in either parent. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as pathogenic (PVS1+PS2+PM2_Supporting). In total 63 relevant cases were retrieved from the database, and a total of 64 individuals were analyzed by genetic testing. Most of the cases were sporadic and males. Multiple cranial sutures (including at least two of the sagittal suture, coronal suture, lambdoid suture, and frontal suture) were involved in 45.45% of the cases, and those with sagittal suture closure only have accounted for 20.00%. The main clinical manifestations have included hypertelorism, exophthalmos, development delay, malar dysplasia, etc. Chiari type 1 malformation may present in some patients. Variants of the ERF gene have mainly included splicing and deletional variants, and there was a strong genetic heterogeneity among the infants and their pedigrees. CONCLUSION: The c.787C>T (p.Q263*) variant of the ERF gene probably underlay the craniosynostosis of this infant. Above finding has enriched the phenotype ~ genotype spectrum of the ERF gene.

Natural history of mild trigonocephalic deformities.

OBJECTIVE: Ridging along the metopic suture line can be a common cause of concern for parents and has been theorized to represent a mild form of trigonocephaly, a cranial deformity associated with risks of negative cosmetic outcomes, if not surgically corrected. Yet the literature contains sparse reports of long-term cosmetic results or expectations for infants with isolated metopic ridging compared with those with severe trigonocephaly, or even what objective metrics discriminate isolated metopic ridging from severe trigonocephaly. Therefore, the authors' goals for this study were to 1) quantify the degree of frontal deformity among patients with metopic ridge, metopic craniosynostosis, and normocephalic head shapes; and 2) document the natural history of frontal deformities in isolated metopic ridge patients in the 1st year of life. METHODS: This was a retrospective cohort study of patients with normocephalic head shapes, metopic ridges, and metopic craniosynostoses who presented at < 1 year of age to the Connecticut Children's neurosurgery clinic from January 2019 to December 2021. Data were collected regarding demographics and photograph-based craniometrics. RESULTS: A total of 212 normocephalic, 34 metopic ridge, and 29 metopic craniosynostosis patients were included. Both the normocephalic and metopic ridge groups had a significantly higher anterior arc angle (AAA) value compared with the metopic craniosynostosis group (p < 0.0001). The AAA did not differ significantly among normocephalic patients and those with ridging. Over the course of 1 year of follow-up, patients with metopic ridging demonstrated a slight decrease in AAA values, but overall remained within the same range as normocephalic patients. CONCLUSIONS: Photograph-based craniometrics suggest that metopic ridge patients with frontal bone angulations > 2.2 radians have a mild degree of frontal constriction that does not significantly worsen over the 1st year of life.

Surgical Management in Isolated Squamosal Craniosynostosis: A Systematic Review.

BACKGROUND: Although craniosynostoses involving the major sutures have been well described, the frequency of isolated minor suture craniosynostoses is much lower. Squamosal craniosynostosis (SQS) is a rare form of cranial synostosis, and the paucity of literature has made the creation of a standardized treatment plan difficult. We present a systematic review of the literature on isolated SQS to identify disease characteristics that lead to a need for operative intervention and to delineate patterns in surgical management. METHODS: A systematic literature review was performed using the electronic databases of PubMed, Scopus, and MEDLINE and the key words "squamosal AND craniosynostosis," "squamous AND craniosynostosis," "squamosal craniosynostosis, "squamosal suture craniosynostosis," and "isolated squamosal craniosynostosis." Only human studies that described presentation and management of SQS were included. A blinded, 2-reviewer analysis of the articles was performed. Data collected included patient and disease characteristics, imaging workup, and treatment specifics, which were analyzed by descriptive statistics. RESULTS: A total of 19 studies examining 119 patients with SQS were reviewed, with 97 (82%) multisutural cases and 22 isolated cases (18%). Of the isolated cases, 6 (27%) required surgical craniosynostosis repair, of which 1 (17%) had unilateral sutural involvement and 5 (83%) had bilateral involvement. Of the patients with isolated SQS, 7 (32%) had a congenital syndrome and comprised 33% of patients who required surgical intervention. The nonsyndromic patients with isolated SQS who required surgery presented with a wide array of phenotypic findings; 3 patients underwent some form of cranial vault remodeling, whereas 1 patient underwent ventriculoperitoneal shunt only. Of the 4 nonsyndromic patients with isolated SQS who underwent surgical repair, half required operative intervention because of elevated intracranial pressure and the other half because of dysmorphic head shape. CONCLUSION: The findings of this updated systematic review suggest a trend toward surgical management in bilateral SQS versus unilateral SQS, and that patients with isolated SQS, previously considered to be a nonsurgical finding, should be carefully monitored, as there remains risk of increased intracranial pressure. Pooled systematic review data suggest isolated SQS has a 27% operative intervention rate, with the presence of coexisting syndromic diagnoses increasing that risk.

A Novel Phenotype of Calvarial Thickening and Increased Rates of Premature Calvarial Suture Closure in Children With Chronic Lung Disease.

PURPOSE: The purpose of this study was to characterize a novel type of calvarial thickening and provide objective measurements of skull thickness and calvarial suture morphology in patients with bronchopulmonary dysplasia. METHODS: Infants with severe bronchopulmonary dysplasia who also had undergone computed tomography (CT) scans were identified from the neonatal chronic lung disease program database. Thickness analysis was performed using Materialise Mimics. RESULTS: The chronic lung disease team treated 319 patients during the study interval of which, 58 patients (18.2%) had head CT available. Twenty-eight (48.3%) were found to have calvarial thickening. The rate of premature suture closure in the study population was 36.2% (21 of 58 patients), with 50.0% of affected cohort having evidence of premature suture closure on the first CT scan. Multivariate logistic regression identified 2 risk factors, requiring invasive ventilation at 6 months of age and fraction of inspired oxygen requirement at 6 months of age. Increased head circumference at birth protected against the development of calvarial thickening. CONCLUSIONS: We have described a novel subset of patients with chronic lung disease of prematurity who have calvarial thickening with remarkably high rates of premature closure of cranial sutures. The exact etiology of the association is unknown. In this patient population with radiographic evidence of premature suture closure, operative decision should be made after considering unequivocal evidence of elevated intracranial pressure or dysmorphology and balanced against the risk of the procedure.

Introduction of Spring-Assisted Cranioplasty for Bicoronal Synotosis in India: Description of First Case and Our Learning Experience.

Background: Various surgical techniques for cranial reconstruction of patients with bicoronal synostosis have been suggested. The outcome is, however, still often suboptimal. Methods: In a 5-month-old child with apert syndrome, following a craniotomy incision, lambdoid suturotomy was done bilaterally. Two springs were implanted bilaterally over the lambdoid sutures. Cephalic index was obtained from three-dimensional computed tomography scans, and photographs were analyzed for aesthetic evaluation. Result: The preoperative calvarial shape was hyperbrachycephalic. The CI improved from 92 to 83 units. Duration of surgery was 1 h 45 min, blood loss was 30 mL, and total hospital stay was 3 days. No major complications were observed. Spring removal was done at 6 months postoperatively and frontoorbital advancement performed. Conclusion: Spring-assisted cranioplasty for bicoronal synostosis is a safe and elegant technique, is less invasive than many other cranioplasties, and results in marked improvement in the calvarial shape.

A Systematic Review of Idiopathic Secondary Stenosis Following Index Surgery for Craniosynostosis.

BACKGROUND: Primary craniosynostosis is a congenital craniofacial disorder in which cranial sutures prematurely close. Iatrogenic secondary stenosis is abnormal cranial suture closure caused by surgical manipulation of the suture. In contrast, idiopathic secondary stenosis develops in a suture that did not undergo surgical manipulation. The objective of this systematic review was to consolidate and characterize the incidence, classification, and management of idiopathic secondary stenosis in the literature. METHODS: Literature from PubMed, Web Of Science, and EMBASE from 1970 to March 2022 was reviewed. The following information was extracted for individual patients: incidence of idiopathic secondary stenosis, index primary craniosynostosis, primary surgical correction, presenting signs of secondary stenosis, management, and further complications. RESULTS: Seventeen articles detailing 1181 patients were included. Ninety-one developed idiopathic secondary stenosis (7.7%). Only 3 of these patients were syndromic. The most common index craniosynostosis was sagittal synostosis (83.5%). The most common suture undergoing idiopathic secondary stenosis was the coronal suture (91.2%). Patients presented at a median age of 24 months. The most common presenting sign was a radiologic finding (85.7%), although some patients presented with headache or head deformity. Only 2 patients, both syndromic, had complications following surgical correction of secondary stenosis. CONCLUSIONS: Idiopathic secondary stenosis is a rare, long-term complication following index surgical repair of craniosynostosis. It can occur following any surgical technique. It most commonly affects the coronal suture but can affect any of the sutures, including pansynostosis. Surgical correction is curative in nonsyndromic patients.

Presentation and Treatment of a Patient With Jacobs Syndrome and Metopic Craniosynostosis.

Jacobs syndrome is a rare trisomy (47, XYY) found in ~1 in 1000 male children associated with infertility, autism spectrum disorders, macrocephaly, hypertelorism, tall stature, and macroorchidism. Diagnosis is often delayed due to relatively subtle phenotypic changes. Craniosynostosis, a fusion of the cranial sutures, has been described in ~1 in 2000 live births, of which 25% are related to a diagnosed syndrome with the most common being Apert and Crouzon. Craniosynostosis does not have a known association with Jacobs syndrome and no prior cases have been reported. This case report seeks to describe the presentation and treatment of a patient with Jacobs syndrome and metopic craniosynostosis.

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

PURPOSE: To assess the role of FGFR2 mutations and sutural synostotic patterns on facial skeleton dysmorphology in children with syndromic craniosynostosis. METHODS: 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. RESULTS: Twenty-four patients with FGFR2 related syndromes were clustered in 3 subgroups: MCF + PCF (8 patients, 5.4 ± 1.75 months), MCF (8 patients, 3.62 ± 1.68 months), and PCF (8 patients, 2.75 ± 0.46 months). Fifteen no-FGFR2 patients were clustered in 2 subgroups: MCF + PCF (7 patients, 9.42 ± 0.78 months) and PCF (8 patients, 7.37 ± 2.92 months). 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]). CONCLUSIONS: 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.

Fusion of Lateral Calvarial Sutures on Volume-Rendered Computed Tomography Reconstructions in Patients With Known Craniosynostosis.

INTRODUCTION: After treating a child with familial sagittal craniosynostosis, clinocephaly, and bilateral parietomastoid/posterior squamosal suture fusion, the authors wondered if major-suture synostosis and clinocephaly were associated with abnormal fusion of minor lateral calvarial sutures. METHODS: The authors reviewed all preoperative volume-rendered head computed tomography reconstructions performed for craniosynostosis at their institution from 2010 through 2014 and determined whether the sphenoparietal, squamosal, and parietomastoid sutures were open, partially fused, or fused. The authors determined whether any sutures were abnormally fused based upon a previous study from their center, in which abnormal fusion was defined as either 1 of 3 abnormal fusion patterns or abnormally-early fusion. The authors then determined the rate of abnormal fusion of these sutures and whether abnormal fusion was associated with (1) major-suture craniosynostosis, (2) type of craniosynostosis (sutures involved; single-suture versus multisuture; syndromic versus nonsyndromic), and (3) clinocephaly. RESULTS: In 97 included children, minor lateral sutures were abnormally fused in 8, or 8.2%, which was significantly higher than in children without craniosynostosis from our earlier study. Abnormal minor lateral suture fusion was not associated with the type of single-suture synostosis or with multisuture synostosis but was associated with syndromic synostosis. Four of 8 children with abnormal minor lateral suture fusion had multisuture synostosis and 6 had syndromic synostosis. Lateral sutures were abnormally fused in 1 of 4 subjects with clinocephaly, which was not significant. CONCLUSION: Abnormal minor lateral calvarial suture fusion is significantly associated with major-suture craniosynostosis, especially syndromic synostosis.