Suture Synostosis Research Articles

Abstract 149: Distinguishing Craniomorphometric Characteristics And Severity In 100 Metopic Synostosis Patients

Purpose: Metopic craniosynostosis is the second most common form of single suture synostosis. Controversy persists regarding the most accurate method for assessing severity in trigonocephaly. This study aimed to develop a robust diagnostic measurement system for reproducible severity assessment in trigonocephaly. In addition, it aimed to identify a severity scale to distinguish between mild, moderate, and severe metopic patients. Methods: Morphometric analysis using Materialise Mimics was performed on preoperative CT scans of infants with metopic craniosynostosis. Assessed indices of trigonocephaly were endocranial bifrontal angle, frontal angle, posterior angle of the anterior cranial fossa, brow ridge to eurion ratio, horizontal orbital cone angle, temporal depression angle, orbital rim angle, and interdacryon distance. Inter- and intra-rater reliability were established with two independent reviewers per patient. Results were analyzed using a Pearson’s correlation coefficient. Furthermore, age-based sub group analysis was performed between <6 months (group 1) and >6 months (group 2) using an unpaired T-test. Results: One hundred patients with metopic craniosynostosis were included in the analysis. The majority were male (82%) with a mean age of 6.6 months. The endocranial bifrontal angle ranged from 112.9 to 148.0 with a mean of 127.0. The frontal angle ranged from 83.2 to 109.3 with a mean of 98.3. Strong correlations existed between the frontal angle, posterior angle of anterior cranial fossa, horizontal cone angle, orbital rim angle, metopic index (bitemporal distance/biparietal distance), and upper orbital width (Pearson coefficient > 0.3 for all). Additionally, the posterior angle of anterior cranial fossa strongly correlated with zygomaticofrontal suture distance, interdacryon distance, and lateral orbital width. Changes in the endocranial bifrontal angle were associated with changes in the lateral orbital width, but there were no other correlations found between the endocranial bifrontal angle and the other measurements. Age-based subgroup analysis showed that there was no significant difference between measurements of severity between group 1 and group 2. Conclusion: In the largest radiographic series of metopic synostosis patients to date, concordance of measures was identified between the frontal angle, posterior angle of anterior cranial fossa, horizontal cone angle, orbital rim angle, metopic index, and upper orbital width. These measurements represent reliable measures for trigonocephaly assessment. Furthermore, we found that there is no significant difference in severity based on age.

Partial Suture Fusion in Nonsyndromic Single-Suture Craniosynostosis.

Partial synostosis of cranial sutures has been shown to have clinical and diagnostic significance. However, there is limited published information about how suture fusion progresses over time. In this study, we evaluate patients with nonsyndromic single-suture synostosis. We aim to define the incidence of partial versus complete suture fusion and whether a correlation exists between the degree of suture fusion and age. Two hundred fifty-four patients with nonsyndromic single-suture synostosis were evaluated. Preoperative computed tomography (CT) scans were rendered in 3-dimensions, all sutures were visualized and assessed for patency or fusion, and length of fusion was measured. Findings were grouped according to suture type (sagittal, coronal, metopic, or lambdoid), the degree of fusion (full, >50%, or <50%), and patient age at time of CT scan (0-90, 91-180, 181-360, or >360 days). Data were analyzed to correlate patient age versus the degree of suture fusion. For all patients, 72% had complete and 28% had partial synostosis. Ratios of full to partial fusion for each suture type were as follows: sagittal 97:36, coronal 35:22, metopic 46:4, and lambdoid 4:10. The sagittal, coronal, and metopic groups demonstrated greater probabilities of complete suture fusion as patient age increases (P = .021, P < .001, P = .001, respectively). This trend was also noted when all sutures were considered together by age-group (P < .001). We note a partial suture fusion rate of 28.3%. Our analysis shows a correlation between the extent of suture synostosis and patient age. Finally, we demonstrate that different sutures display different patterns of partial and complete fusion.

Intracranial pressure patterns in children with craniosynostosis utilizing optical coherence tomography.

Better understanding the incidence and patterns of elevated intracranial pressure (ICP) in patients with craniosynostosis may facilitate more timely intervention to alter neurocognitive outcomes. Spectral-domain optical coherence tomography (OCT) of the retina can non-invasively diagnose elevated ICP, and has demonstrated high sensitivity and specificity among patients with craniosynostosis. This study sought to characterize patterns of elevated ICP among patients with craniosynostosis. Quantitative retinal parameters were prospectively assessed in both eyes of patients with craniosynostosis using spectral-domain OCT. Based on retinal OCT thresholds associated with elevated ICP (> 15 mmHg), subjects were assigned an OCT diagnosis of elevated or non-elevated ICP which was analyzed relative to clinical characteristics and craniosynostosis patterns. Eighty subjects (aged 0.2-18 years) with craniosynostosis were enrolled; among these, 67 (84%) were nonsyndromic. OCT evaluation was performed at initial vault expansion in 56 (70%) patients. Among this subset, 27 (48%) patients had peri-papillary changes suggestive of elevated ICP, reflecting a 44% incidence in nonsyndromic and 83% in syndromic patients. The median age at initial vault expansion was higher among those with elevated ICP (11.1 months) than those without (7.8 months; p = 0.04.) Multi-suture synostosis was associated with changes consistent with elevated ICP in 9 (75%) patients compared with 18 (41%) with single suture synostosis (p = 0.05). OCT of the retina produces a potentially sensitive indicator of ICP in craniosynostosis patients. Elevated ICP may be associated with number of involved sutures and older patient presentation, and refining appropriate "cutoffs" will be important as the technology becomes more widespread.

Cranioorbital Morphology Caused by Coronal Ring Suture Synostosis.

Minor cranial sutural synostosis is currently regarded as a rare diagnosis. As clinical awareness grows, a greater number of cases are being documented. This study aims to describe the variants of unicoronal synostosis with regard to major and minor sutural involvement and secondary effects on cranial and orbital morphology. The information is aimed to improve clinical diagnosis and management. A retrospective study was conducted collecting preoperative computed tomographic scans of patients diagnosed with unicoronal synostosis and listed for surgical interventions, identified from a craniofacial database. Within these patients, different synostotic variants were identified based on which suture was affected. Scans of normal pediatric skulls (trauma) were used for a control group. Computed tomographic scans were analyzed for sutural involvement, cranial base deflection, and ipsilateral and contralateral orbital height and width. One-way analysis of variance was used to detect differences between synostotic variants and controls. A total of 57 preoperative computed tomographic scans of patients with unicoronal synostosis were reviewed, in addition to 18 computed tomographic scans of normal skulls (control group). Four variants of unicoronal synostosis were identified: frontoparietal, frontosphenoidal, frontoparietal and frontosphenoidal, and frontosphenoidal and frontoparietal. The last two variants differ in their temporal involvement in the direction of sutural synostosis and ultimately cranial and orbital morphology. Three variants have been previously identified, but the fourth is presented for the first time. An understanding of the variants of unicoronal synostosis and their temporal relationships is integral for accurate clinical diagnosis and surgical correction. Recommendations for treatment are based on discrete changes in orbital morphology.

What Is the Skull Structure Influence of Squamosal Suture Synostosis in Nonsyndromic and Syndromic Crouzon Craniosynostosis?

The morphologic effect of squamosal synostosis has not been clarified, due to its low occurrence rate, and its inclination to be combined with premature closure of other major sutures, especially in syndromic synostosis. This study's goal is to explore the morphological influence of squamosal synostosis in both syndromic and nonsyndromic craniosynostosis patients. Twenty-five computed tomography (CT) scans from nonsyndromic squamosal synostosis (NSS), Crouzon syndrome with squamosal synostosis (CSS), Crouzon syndrome without squamosal synostosis, and normal controls were included. Three-dimensional (3D) cephalometry, entire cranial volume and cranial fossa volume were measured using Materialise software. The entire cranial volume of all groups was similar. The NSS developed a gradual reduction in the severity of reduced segmental volume from the anterior cranial fossa, to the middle cranial fossa, and to the unaffected volume of posterior cranial fossa. The CSS developed the most severe volume reduction of middle cranial fossa (12608.30 ± 2408.61 mm vs 26077.96 ± 4465.74 mm, 52%), with proportionate volume reduction of the anterior (7312.21 ± 2435.97 mm vs 10520.63 ± 2400.43 mm, 30%) and posterior cranial fossa (33487.29 ± 5598.93 mm vs 48325.04 ± 14700.44 mm, 31%). The NSS developed a narrower anterior cranial fossa, a clockwise rotated Frankfort horizontal plane, and a retracted chin (pogonion). Squamosal synostosis may alter the development of cranial fossa volume, especially the volume of middle cranial fossa. However, the development of cranial base, and related facial features are determined largely by major vault sutures and associated syndromic conditions, rather than the squamosal suture alone. II.

S4A-24 SESSION 4A: GENERALITIES IN CRANIOSYNOSTOSIS – PART I A LONGITUDINAL AUDIT OF EARLY LANGUAGE ASSESSMENT OF CHILDREN WITH CRANIOSYNOSTOSIS AND IMPLICATIONS FOR THE DEVELOPMENT OF MULTI-DISCIPLINARY CARE

Introduction: At Birmingham Children’s Hospital all children who present with single suture synostosis undergo speech and language assessment at 18 months, 3, 5, 7 and 10 years. Based on assessment findings and clinical judgement at these key ages, children are referred on to community speech and language therapy (SLT) services as required. An increase in referrals to the Birmingham Craniofacial Unit, and the subsequent increased demand on Speech and Language resources, highlighted the need to review the assessment care pathway, focusing on language assessment at 18 months, 3 years and 5 years of age. Methods: A retrospective, longitudinal audit of SLT notes of 87 children with single suture synostosis was carried out. Each child had undergone language assessment at 18 months, 3 years and 5 years of age. The outcomes for each child were categorised using a 3 point scale and were plotted and compared. Data on the nature of early intervention offered was also analysed. Results: The results showed that normal language assessment outcomes at 18 months are predictive of normal outcomes at 5 years in 84% of the cohort. The results also showed that 28% of children assessed at 18 months presented with language difficulties; all were given advice and/or referred onto the community SLT Service. By 5 years of age, 68% of the delayed children had improved to normal language levels. Conclusion: 15% percent of children with single suture synostosis in this audit had a language difficulties at 5 years of age. Detailed language assessment at 18 months by a trained SLT clinician has a predictive value for language outcomes at 5 years. It also allows for effective early intervention in the form of advice or referral to community SLT. Resource prioritisation and streamlining of care pathways for children with craniosynostosis were indicated and have now been implemented.

S4B-01 SESSION 4B: ORTHOGNATHIC / TREACHER-COLLINS DENTAL CARIES IN A CRANIOFACIAL POPULATION: ‘UNDERSTANDING THE RISK: PREVENTING THE PREVENTABLE’ WEST MIDLANDS SUPRA REGIONAL CRANIOFACIAL UNIT, UK

Introduction: Abnormalities of oral and dental anatomy are noted in many craniofacial conditions. Children diagnosed with craniosynostosis may present with dental anomalies, skeletal abnormalities and cognitive defects. This puts them at a greater risk of developing dental caries. Dental caries is a largely preventable disease, however dental extractions are still a common reason for hospital admission in the UK. Having a healthy dentition will provide a more accurate base for later proposed orthognathic/ facial deformity surgery in the craniofacial patient. Aim: A prospective audit to assess craniofacial patients’ caries experience and associated risk factors at Birmingham Children’s Hospital. Objectives: 1.To assess the patients’ caries risk against UK guidelines; 2. To assess if the patients have access to a General Dental Practitioner (GDP) To assess the patients’ previous experience of dental treatment Methods: Questionnaires were disseminated prospectively over a 4-month period to patients who attended the craniofacial clinic at BCH. This comprised a series of questions to understand their risk of developing dental decay, access to dental professionals and any experience of dental treatment. Results: 40 patients completed the questionnaire, 16 had craniosynostosis related to a syndrome or multi-suture synostosis, the other 24 patients had single suture synostosis. Caries risk status: The caries risk for each patient was assessed based on their diet, availability of fluoride and dental caries experience. In the single suture cohort, 4 patients were regarded as being ‘low caries risk’ and the remaining 20 were ‘high caries risk’. In the syndromic/multi-suture craniosynostosis cohort, all children were regarded as being ‘high caries risk’ as a result of their medical condition and the other risk factors for caries. Access to routine dental care: In the syndromic/multi-suture synostosis cohort, 3 children did not have access to a dentist and 4 children did not have access in the single suture group. Patients’ previous dental experience: Of the study population, 10 had experienced dental fillings, 4 had previous extractions and 2 children had undergone a general anaesthetic for dental treatment. The 4 children who had undergone extractions were in the multi-suture craniosynostosis group. Conclusion: This patient reported questionnaire, demonstrated that the majority of our craniofacial patients sampled were at high risk of developing dental caries. To reduce this risk, there is a need for a preventative strategy and development of a robust pathway to support the young craniofacial patient population.

S5A-02 SESSION 5A: GENERALITIES IN CRANIOSYNOSTOSIS – PART II PARENT AND PATIENT REPORTED OUTCOME MEASURES FOR HEAD SHAPE IN SINGLE SUTURE SYNOSTOSIS.

Introduction: Most studies reporting surgical outcomes in craniosynostosis are often cohort based and lack longitudinal and continual reporting making it difficult to see trends in practice and compare centres. In addition clinician ratings are not predictive of psychological adjustment. To address these issues in Oxford we have developed a parent and patient reported outcome measure (PROM) for head shape in single suture synostosis. Methods: From Jan 2017 all patients over the age of 7 and all parents of children with single suture synostosis treated at the Oxford Craniofacial Unit were asked to fill in a questionnaire to score how noticeable they thought the head shape was to other people before and after surgery as well as how much the head shape bothered them. Results: In the first year of this on going study 246 forms were filled in by parents and 118 by children over the age of 7, representing 95% of all outpatient attendances. All parents and children reported a significant improvement in how noticeable the head shape was to others after surgery. Equally, all parents and children were less bothered by the head shape after surgery. The greatest improvement was seen in sagittal synostosis and the least in unicoronal synostosis. The prospective data mirrored that of the restrospective data. Conclusion: This novel PROM shows good face validity, clinical utility and demonstrates good responsiveness to change. It allows for continual longitudinal reporting of an important surgical outcome measure in single suture synostosis. It is an in built intra-observer memory error check and has the potential to compare results using different techniques and from different centres.

Follow-up study to investigate symmetry and stability of cranioplasty in craniosynostosis – Introduction of new pathology-specific parameters and a comparison to the norm population

PurposeCranioplasty and modulation of frontoorbital advancement (FOA) in children with craniosynostosis aims to achieve an attractive aesthetic and functional rehabilitation of the forehead area, comparable to that in unaffected children. Based on a three-dimensional surface scan, a cephalometric data evaluation with new parameters for the quantification of physiological and pathological cranial morphologies, and objective evaluation of postoperative follow-up in comparison to an age-equivalent standard population, were performed. Materials and methodsIn a prospective study, 80 children were operated on with non-syndromic craniosynostosis (trigonocephalus, n = 30; plagiocephalus, n = 10; scaphocephalus, n = 38; brachycephalus, n = 2) and pre- and 3, 6, 12, 18 and 30 months postoperative three-dimensional surface scans were obtained (3DShape, Erlangen, Germany) and morphometrically measured (Onyx Ceph, Image Instruments, Chemnitz, Germany). In addition, 49 healthy children who were not operated on were measured at equivalent ages (n = 25 [6 months]; n = 20 [9 months]; n = 4 [12 months]). ResultsAll patient groups showed stable long-term results with regard to shaping of the forehead. Cranioplasty in patients with scaphocephalus resulted in a significant widening of the anterior (73.9 ± 3.5 mm; p < 0.001) and posterior (132.2 ± 5.2 mm; p < 0.001) cranial width, with no significant difference from the norm population 1 year after surgery (p = 0.6597). As parameters for the correction of trigonocephaly, the frontal angle showed significant improvement (145.9 ± 3.7°; p < 0.001). While the parietal angle 12 months after surgery showed similar values as the norm population, the frontal angle was about 10° smaller than in healthy children (p = 0.0055), despite a clinically inconspicuous physiognomy. As part of the correction of plagiocephaly, the patients tended to relapse in the postoperative course, although there was no statistically significant difference in the frontal angle compared to that in the norm population (153.3 ± 3.9°; p = 0.06). While 6 months after surgery all patients showed a normal cranial volume development compared to healthy children of the same age, the volumes of brachycephalic patients remained below the norm (1244.2 ± 153.2 cm3; p = 0.0244). Overall, the analysis of the norm population showed a growing dispersion of measurement values with increasing age, which was observed to be more concentrated in the operated cranial morphologies. ConclusionThe determination of new pathology-specific morphometric parameters on the three-dimensional surface scan enables an objective quantification of physiological and pathological cranial morphologies of children. A comparison of operated children with a healthy, age-appropriate comparison group showed that preoperative and statistically significant deviations of the new measuring parameters in long-term follow-up could be normalized through surgical intervention, although this does not apply without limitations to children with coronary suture synostosis.

The role of ICP overnight monitoring (ONM) in children with suspected craniostenosis.

Secondary craniostenosis is a relevant problem pediatric neurosurgeons are confronted with and poses challenges regarding reliable diagnosis of raised ICP, especially in case of absent or questionable papilledema. How to identify children with elevated ICP is still controversial and diagnostics vary. We report on our experience with computerized ICP ONM in relation to imaging derived parameters. Thirty-four children with primary or secondary craniostenosis and clinical suspicion of raised ICP were investigated. We compared clinical signs, history, and radiographic assessment with the results of computerized ICP ONM. Differences were significant at a p < 0.05. Baseline ICP was significantly higher in patients with combined suture synostosis, who also had a higher rate of questionable papilledema. Children with narrowed external CSF spaces in MRI had significantly higher ICP levels during REM sleep. Mean RAP was significantly elevated in patients with multi-suture synostosis, indicating poor intracranial compensatory reserve. Syndromal craniostenosis was associated with elevated ICP, RAP was significantly lower, and skull X-rays showed more impressions (copper beaten skull). RAP increased with more severe impressions only to decline in most severe abnormalities, indicating exhaustion of cerebrovascular reserve at an upper ICP breakpoint of 23.9mmHg. Headaches correlated to lower ICP and were not associated with more severe X-ray abnormalities. Narrowed external CSF spaces in MRI seem to be associated to elevated ICP. Skull X-rays can help to identify patients at risk for chronically elevated ICP. Severe X-ray changes correlate with exhausted cerebrovascular reserve as indicated by RAP decline. Only ICP monitoring clearly identifies raised ICP and low brain compliance. Thus, in cases with ambiguous imaging, ONM constitutes an effective tool to acquire objective data for identification of surgical candidates.

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. Affected patients exhibit wide phenotypic variability. Common features include coronal craniosynostosis, hearing loss, carpal and tarsal anomalies, and developmental/behavioral issues. Our study examined the phenotypic findings, medical management, and surgical outcomes in a cohort of 26 probands with Muenke syndrome identified at the Children's Hospital of Philadelphia. All probands had craniosynostosis; 69.7% had bicoronal synostosis only, or bicoronal and additional suture synostosis. Three male patients had autism spectrum disorder. Recurrent ear infections were the most common comorbidity, and myringotomy tube placement the most common extracranial surgical procedure. Most patients (76%) required only one fronto-orbital advancement. de novo mutations were confirmed in 33% of the families in which proband and both parents were genetically tested, while in the remaining 66% one of the parents was a mutation carrier. In affected parents, 40% had craniosynostosis, including 71% of mothers and 13% of fathers. We additionally analyzed the medical resource utilization of probands with Muenke syndrome. To our knowledge, these data represent the first comprehensive examination of long-term management in a large cohort of patients with Muenke syndrome. Our study adds valuable information regarding neuropsychiatric and medical comorbidities, and highlights findings in affected relatives.

Why do metopic sutural synostoses angulate? The concept of nasion sutural complex and its implication on the management of hypotelorism-early results and proof of concept.

Angulation at the suture is a hallmark of metopic synostoses amongst all craniosynostoses. No other sutural synostoses demonstrate angulation at synostoses consistently. We look into the possible aetiology and the implication of the understanding in the treatment goals of trigonocephaly. We hypothesise that the nasal bone and nasofrontal suture viz. "nasion sutural complex" are involved in trigonocephaly along with the well-accepted role of metopic suture. We propose that it is the angulation at this junction which leads to trigonocephaly and its secondary features. The study included seven infants, who underwent correction for trigonocephaly at our paediatric craniofacial division at Amrita Institute of Medical Sciences and Research Centre, Kochi, India, between the period July 2015 to March 2018. The cohort included were infants with trigonocephaly who had CT head for diagnosis. We analysed the multidimensional CT (MDCT) of these infants and compared to an equal number of age-matched controls. The controls were infants with other forms of sutural synostosis with metopic uninvolved and normal infants where MDCT was done for other reasons. Sutural characteristic at the nasion and metopic suture recorded in comparison with an equal number of age-matched controls. We performed spring cranioplasty for three infants after metopic suturectomy, extending the release beyond the nasion sutural complex, placing springs to distract the suture. The infants who underwent spring cranioplasty were followed up for the aesthetic outcome. Remaining infants of the study underwent standard frontorbital correction for metopic craniosynostoses. We could demonstrate a fusion of nasofrontal and nasal suture in all cases (n = 7) of trigonocephaly included in the study on MDCT and intraoperatively. We performed spring cranioplasty for three infants (n = 3/7), where we released the internasal suture. At 3months follow-up, along with correction of the angulation, the hypotelorism improved significantly. Other infants in the study (4/7) underwent classical frontorbital advancement. Fusion of nasion sutural complex along with metopic sutures may explain the angulation in trigonocephaly. We propose that all minimally invasive techniques for correction of trigonocephaly and associated hypotelorism should consider this fact for an improved outcome.

Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis.

Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and mental deficiency. These functional deficiencies may be due to anatomic deformities, which may be caused by different forms of associated suture fusion. Therefore, a classification system of Apert syndrome based on the type of craniosynostosis pattern might be helpful in determining treatment choices. CT scans of 31 unoperated Apert syndrome and 51 controls were included and subgrouped as: class I. Bilateral coronal synostosis; class II. Pansynostosis; and class III. Perpendicular combination synostosis: a. unilateral coronal and metopic synostosis; b. sagittal with bilateral/unilateral lambdoid synostosis; and c. others. Class I is the most common (55%) subtype. The cranial base angulation of class I was normal; however, the cranial base angulation on the cranium side of the skull in class II increased 12.16 degrees (P = 0.006), whereas the facial side cranial base angle of class IIIa decreased 4.31 degrees (P = 0.035) over time. The external cranial base linear measurements of class I showed more evident reduction in anterior craniofacial structures than posterior, whereas other subtypes developed more severe shortening in the posterior aspects. Bicoronal synostosis is the most common subtype of Apert syndrome with the normalized cranial base angulation. Combined pansynostosis patients have flatter cranial base, whereas the combined unilateral coronal synostosis have a kyphotic cranial base. Class I has more significant nasopharyngeal airway compromise in a vertical direction, whereas classes II and III have more limited oropharyngeal space.

Trigonocephaly: Long-term results after surgical correction of metopic suture synostosis.

Premature closure and ossification of the metopic suture results in a triangular head shape called trigonocephaly and is characterized by a wedge-shaped forehead and frontotemporal narrowing. Untreated craniosynostosis may lead to increased intracranial pressure (ICP) and, thereby, impaired neurodevelopment. Over the last decades, its incidence has been increasing, currently making it the 2nd most common type of isolated craniosynostosis. Treatment consist of cranioplasty, which should be performed before the age of 1 year. The aim of this study was to evaluate the long-term surgical outcomes in children operated on for trigonocephaly. The authors reviewed 30 consecutive cases of metopic synostosis treated over a 14-year period in the Plastic Surgery Department in Polanica-Zdrój, Poland. The data was evaluated using the patients' clinical records, and preoperative and postoperative photographs. The patients showed up on a follow-up visit at a median age of 9 years and were examined by an ophthalmologist and a neurologist. The surgical outcomes were evaluated according to the Whitaker classification. In 23 patients, remodeling and the advancement of fronto-orbital skull segments was performed at a median age of 18 months and in 7 milder cases, simple suturectomy or burring of the metopic ridge was sufficient. According to the Whitaker classification, results were considered good to excellent (category I and II). Only 1 patient was included into category III. None of the examined cases were included into category IV, which would require a major craniofacial procedure, duplicating or exceeding the original operation. Neurological abnormalities were found in 12 cases and vision defects in 15 cases. Trigonocephaly is currently the 2nd most common type of isolated synostosis. Surgical treatment based on Tessier's and Marchac's modified methods provides good results in patients at the age of about 12 months and prevents the consequences of ICP increase. Primary neurological and behavioral disorders may occur, despite corrective surgery.

Modification of the Melbourne Method for Total Calvarial Vault Remodeling.

Background:Sagittal synostosis is the most common form of single suture synostosis. It often results in characteristic calvarial deformities, including a long, narrow head, frontal bossing, a bullet-shaped occiput, and an anteriorly placed vertex. Several methods for correcting the phenotypic deformities have been described, each with their own advantages and challenges. In this study, we describe a modification of the Melbourne method of total calvarial remodeling for correcting scaphocephaly.Methods:We conducted a retrospective review of all consecutive patients who underwent total calvarial remodeling using a modified version of the Melbourne technique from 2011 to 2015. We evaluated clinical photographs, computed tomographic imaging, and cephalic indices both pre- and postoperatively to determine morphologic changes after operation.Results:A total of 9 patients underwent the modified Melbourne technique for calvarial vault remodeling during the study period. Intraoperative blood loss was 260 mL (range, 80–400 mL), and mean intraoperative transfusion was 232 mL (range, 0–360 mL). The average length of stay in the hospital was 3.9 days. The mean cephalic indices increased from 0.66 to 0.74 postoperatively (P < 0.01).Conclusions:A modified Melbourne method for calvarial vault reconstruction addresses the phenotypic aspects of severe scaphocephaly associated with isolated sagittal synostosis and maintains a homeotopic relationship across the calvaria. It is associated with shorter operative times, lower blood loss, and lower transfusion requirements.

Altered shapes, same people: Scaphocephaly in the early modern Bucharest

Premature sagittal suture synostosis was identified in eight specimens dated between the 18th and 20th centuries CE, of which seven are kept within the Rainer Osteological Collection in Bucharest and one was retrieved from the archaeologically investigated Saint Sava Church Cemetery. Our study focused on metric measurements, aiming to compare these specimens with three other samples comprising normal and scaphocephalic individuals, with both a Romanian and worldwide distribution. In total, 374 individuals were used in this study. However, although metric measurements clearly show that these individuals were different in their appearance, the socio-cultural data point to them being normal members of the society, as suggested by the funerary features of the archaeological specimens and their position within the Rainer Osteological Collection.

The influence of suturectomy on age-related changes in cerebral blood flow in rabbits with familial bicoronal suture craniosynostosis: A quantitative analysis.

BackgroundCoronal suture synostosis is a condition which can have deleterious physical and cognitive sequelae in humans if not corrected. A well-established animal model has previously demonstrated disruptions in intracranial pressure and developmental abnormalities in rabbits with congenital craniosynostosis compared to wild type rabbits.ObjectiveThe current study aimed to measure the cerebral blood flow (CBF) in developing rabbits with craniosynostosis who underwent suturectomy compared to those with no intervention and compared to wild type rabbits.MethodsRabbits with early onset coronal suture synostosis were assigned to have suturectomy at 10 days of age (EOCS-SU, n = 15) or no intervention (EOCS, n = 18). A subset of each group was randomly selected for measurement at 10 days of age, 25 days of age, and 42 days of age. Wild type rabbits (WT, n = 18) were also randomly assigned to measurement at each time point as controls. Cerebral blood flow at the bilateral hemispheres, cortices, thalami, and superficial cortices was measured in each group using arterial spin-labeling MRI.ResultsAt 25 days of age, CBF at the superficial cortex was significantly higher in EOCS rabbits (192.6 ± 10.1 mL/100 mg/min on the left and 195 ± 9.5 mL/100 mg/min on the right) compared to WT rabbits (99.2 ± 29.1 mL/100 mg/min on the left and 96.2 ± 21.4 mL/100 mg/min on the right), but there was no significant difference in CBF between EOCS-SU (97.6 ± 11.3 mL/100 mg/min on the left and 99 ± 7.4 mL/100 mg/min on the right) and WT rabbits. By 42 days of age the CBF in EOCS rabbits was not significantly different than that of WT rabbits.ConclusionSuturectomy eliminated the abnormally increased CBF at the superficial cortex seen in EOCS rabbits at 25 days of age. This finding contributes to the evidence that suturectomy limits abnormalities of ICP and CBF associated with craniosynostosis.

Quantitative evaluation of facial hypoplasia and airway obstruction in infants with syndromic craniosynostosis: relationship with skull base and splanchnocranium sutural pattern.

Craniosynostostic syndromes are due to multisuture synostoses and affect the entire craniofacial skeleton. This study analyzed the facial complex and airways to quantify the relationship between insufficient facial growth, airways obstruction, and the sutural pattern of the splanchnocranium and cranial fossae. Preoperative high-resolution CT images in 19 infants with syndromic craniosynostosis were quantitatively analyzed. Because all children showed involvement of minor sutures/synchondroses coursing in the posterior cranial fossa, they were divided into three groups according to the synostotic involvement of "minor" sutures/synchondroses coursing in anterior (ACF) and middle (MCF) cranial fossae: group 1 (ACF), group 2 (MCF), and group 3 (ACF-MCF). Analysis of the facial complex and airway was performed. Each group was compared with age-matched healthy subjects. Premature closure of skull base synchondroses of ACF and MCF was found only in groups MCF and ACF-MCF. Group MCF showed synostosis in the posterior branch of the coronal ring and reduced anterior hemifossae lengths while group ACF-MCF showed synostosis in the anterior branch of the coronal ring and reduced middle hemifossae lengths. No group showed reduced maxillary or mandibular volumes but group MCF showed synostosis of the zygomaticomaxillary sutures and maxillary retrusion. All groups showed reduced airway volume but group 2 had a higher degree of airway hypoplasia. The skull base synostotic process drives the changes in facial complex growth and airway obstruction. Premature closure of synchondroses/sutures in the posterior branch of the coronal ring causes insufficient facial growth, maxillary retrusion, and more severe airway reduction.

Molecular Analysis of Ephrin A4 and Ephrin B1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.

Craniosynostosis (CS) has a prevalence of approximately 1 in every 2000 live births and is characterized by the premature fusion of one or more cranial sutures. Failure to maintain the cell lineage boundary at the coronal suture is thought to be involved in the pathology of some forms of CS. The Ephrin family of receptor tyrosine kinases consists of membrane-bound receptors and ligands that control cell patterning and the formation of developmental boundaries. Mutations in the ephrin A4 (EFNA4) and ephrin B1 (EFNB1) ligands have been linked to nonsyndromic CS and craniofrontonasal syndrome, respectively, in patient samples. We have previously described a colony of rabbits with a heritable pattern of coronal suture synostosis, although the genetic basis for synostosis within this model remains unknown. The present study was performed to determine if EFNA4 or EFNB1 could be the loci of the causal mutation in this unique animal model. Sequencing of EFNA4 and EFNB1 was performed using templates obtained from wild-type (n = 4) and craniosynostotic (n = 4) rabbits. No structural coding errors were identified in either gene. A single-nucleotide transversion was identified in one wild-type rabbit within the third intron of EFNA4. These data indicate that the causal locus for heritable CS in this rabbit model is not located within the structural coding regions of either EFNA4 or EFNB1.

Crouzon syndrome: A comprehensive review

Crouzon syndrome is a rare genetic disorder with autosomal dominant inheritance. The underlying pathological process is premature synostosis of the cranial sutures with subsequent phenotypic alterations of the affected person. A review of the literature has been conducted in order to resume the overall characteristics of Crouzon syndrome such as craniomaxillofacial malformations, clinical features, dentoalveolar characteristics, aesthetic impairments, and psychological background, as well as, the different therapeutic procedures, which combine surgical and orthodontic interventions. Facial and functional malformations in individuals with Crouzon syndrome could be significantly improved after a series of surgical and orthodontic procedures in almost all cases. A multidisciplinary treatment approach would provide the best outcomes in affected patients.