Type Of Synostosis Research Articles

Using the SCAR-Q to Evaluate Morbidity of Scars in Craniosynostosis Repair.

While previous literature has investigated the psychosocial impact and aesthetic satisfaction associated with post-operative scarring for certain pediatric craniofacial conditions, the impact of the scar burden resulting from craniosynostosis surgery has not been adequately studied. SCAR-Q was shared with patients ages 8 and older. Thirty-two complete patient responses were recorded. SCAR-Q is a PROM that consists of three independent scales - appearance, symptoms, and psychosocial impact - associated with a scar. Mann-Whitney U, linear regression, and Pearson correlation tests were used to evaluate associations between the scales, in addition to patient characteristics such as sex and suture involvement. Mean ages at time of surgery and survey completion were 9.65 ± 10.10 months and 12.10 ± 3.92 years, respectively. Mean scale scores were 81.5 ± 17.9 for appearance, 86.8 ± 12.4 for symptoms, and 79.3 ± 25.7 for psychosocial impact. Higher patient dissatisfaction with scar appearance correlated with more scar-related symptoms (r = 0.389; p = 0.028) and a greater psychosocial impact (r = 0.725; p < 0.001). SCAR-Q scales did not significantly correlate with age at surgery, age at survey completion, type of synostosis, or type of surgery; however, female patients reported lower mean appearance (65.4 vs. 86.0; p = 0.012) and psychosocial impact (57.3 vs. 85.5; p = 0.010) scores when compared to their male counterparts. It is vital that surgeons discuss patients' aesthetic satisfaction following craniosynostosis surgery in order to appropriately address and limit deleterious, long-term physical and psychosocial outcomes.

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

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

Which centers should be authorized to treat craniosynostosis? A plea for quality and not for quantity

BackgroundIn centers for craniosynostosis surgery, the volume of activity does not necessarily reflect the quality of the treatment. ObjectiveOur aim was to analyze a retrospective series of patients over a period of 6 years in a low-volume craniosynostosis surgery center, and to study indicators that reflect the quality of treatment. Patients and methodsThe analysis included all patients who underwent a craniofacial surgery for all forms of craniosynostosis during the period 2012–2017 (annual follow-up for 4 years). Data on the type of synostosis, sex, age, weight, type of surgery, duration of surgery, blood transfusion, postinterventional care, and total length of hospital stay were collected. Medical and surgical complications were recorded using the Leeds classification. ResultsOverall, 42 patients (33 male; 23 cases of scaphocephaly, 13 cases of trigonocephaly, 4 cases of coronal plagiocephaly, 1 case of lambdoid plagiocephaly, and 1 case of brachycephaly) underwent craniofacial surgery with a median age of 7.4 months [4.8; 10.4] and a mean weight of 8.40 ± 1.92 kg at surgery. The median hospital stay was 7 days [6;7] with 1 day in the postinterventional care unit for 83% of patients. The global complication rate was 12% (95% CI: 4%–26%) with three minor cutaneous and two major (cardiovascular and septic) complications. ConclusionComplication rates reflect the quality of care in a center that treats craniosynostosis much more than do the number of procedures, mean hospital stay, and blood transfusion rates. It is essential to define new indicators capable of measuring the quality of life linked to surgical procedures and of using them to assess the competence of a center.

Ten-year experience in the surgical management of craniosynostosis. A series of 96 consecutive patients

• Craniosynostosis is characterized by the premature fusion of one or more cranial sutures; it has an estimated overall incidence of 1/2000 to 2500 live births. • The birth prevalence of all types of CS, both isolated and syndromic is 343/million. • The incidence of non-syndromic CS is 0.6/1000 live births. • The diagnosis and treatment of CS during the last two decades improved by new and different techniques, including molecular genetics of most of the classic CS syndromes. • Almost 20% of all CS are due to genetic causes. More than 180 syndromes are known to be associated with CS. • On behalf the surgical procedures, minor changes have been introduced but the basic principles and techniques remain unchanged depending on the type of synostosis, the reabsorbable osteosynthesis improved the stability of the cranial assemblies and endoscopic approaches have made some of these procedures less invasive. • I want to put our work to your consideration, the content is about 96 cases of craniosynosotosis, in which we report the techniques used for its treatment, some endoscopic cases, complications and especially the functional results. Thanks.

Craniometrics and Perioperative Variants in Non-Syndromic Single Suture Craniosynostosis with Cranial Vault Remodelling Surgery and Strip Craniotomy with and without Endoscopic Assistance: Systematic Review

Abstract Background Craniosynostosis is a major category in craniofacial anomalies defined as premature closure of one or more of cranial sutures. Diagnostic Indices and different measures and landmark points are being chosen according to age, the type of deformity and its severity, surgical procedure and targeted cosmetic outcome. Objectives Primary objective is to compare anthropometric measures Post-operative in short and long term follow up between different surgical modalities and impact on cosmetic outcome and need of second corrective surgical session. Secondary objective is to evaluate the Perioperative events between three surgical modalities in terms of Intra operative events; Estimated Blood Loss (EBL), rate of blood transfusion, Procedure duration and Post-operative events; Hospital Length of Stay, rate of post-operative complications and duration of needed Helmet therapy. Methods and Material The following electronic databases were searched from 2015 to 2019: PubMed, google scholar search engine. Cochrane database of systematic reviews, EMBASE for comparative studies between minimal invasive and open cranial vault remodelling techniques with different types of synostosis. Studies that were eligible if they contain the target keywords in title or abstract, addressing the age group up to 36 months with diagnosis of non- syndromic craniosynostosis by a plastic surgeon or neurosurgeon with or without confirmatory 3D skull reconstruction CT imaging. Follow-up outcomes were measured at 12 months or more. Exclusion criteria included studies lacking of quantitative comparison between open surgery and endoscopic assisted surgery, inclusion of patients with syndromic Craniosynostosis and editorials, abstracts and case reports. Results A total of 385 studies screened for eligibility, seven retrospective cohort studies were included in our systematic review for analysis of population demographics and management outcome with commenting of cosmetic outcome significance in comparison of different surgical modalities. Overall study population reaches 440 patients with different synostosis deformities with average age at surgery ranging from 2 to 6 months for endoscopic groups and 5 to 14 months for open surgery groups with average follow up duration reached 12 months. Analysis showed comparable postoperative cosmetic results between both techniques regardless type of synostosis with better perioperative outcomes such as less blood loss, shorter operations, shorter hospital stays and lower incidence of complications in minimal invasive and endoscopic assisted procedures groups. Conclusions We conclude that Minimal invasive approaches and especially endoscopic assisted craniotomies is a promising surgical option in craniosynostosis management. Regardless type of synostosis deformity, current literature comparing endoscopic and open CVR repair showed no statistical significant difference in craniometric analysis of cosmetic post-operative outcomes of both techniques. With improved perioperative outcomes, endoscopic assisted surgeries could be preferred for management team ideally for cases before 6 months age. Large population prospective studies and clinical trials are recommended for more high level evidence data for studying craniosynostosis management options for proper surgical decision making.

Congenital Radioulnar Synostosis

Introduction: congenital radioulnar synostosis is an uncommon congenital anomaly, thatcauses a limitation of the forearm supination, often bilateral. The origin of this anomaly occurs when the differentiation of the cartilaginous contour of the radius and ulna does not take place during the embryonic period.&#x0D; Objective:to show two congenital radioulnar sinostosis cases analyzing variable about the topic.&#x0D; Case report:there are two different types of synostosis. In these cases the symptoms are mild because the compensate thein limitation in pronosupinationwith hypermobility of other joints of the upper limb. X-rays of upper limbs are the diagnostic procedures. The management will be conservative, but the treatment depends on the degree of functionality of the forearm.&#x0D; Conclusions:proximal radioulnarsynostosis is anon frequent affection, that brings about difficulties carrying out actions with the hands, Its diagnosis is relatively simple by means of the clinical findings andplain X-rays of the elbow.

Congenital Radioulnar Synostosis

Introduction: congenital radioulnar synostosis is an uncommon congenital anomaly, that causes a limitation of the forearm supination, often bilateral. The origin of this anomaly occurs when the differentiation of the cartilaginous contour of the radius and ulna does not take place during the embryonic period. Objective: to show two congenital radioulnar synostosis cases analyzing variable about the topic. Case report: there are two different types of synostosis. In these cases the symptoms are mild because the compensate thein limitation in pronosupination with hypermobility of other joints of the upper limb. X-rays of upper limbs are the diagnostic procedures. The management will be conservative, but the treatment depends on the degree of functionality of the forearm. Conclusions: proximal radioulnar synostosis is a non frequent affection, that brings about difficulties carrying out actions with the hands, Its diagnosis is relatively simple by means of the clinical findings andplain X-rays of the elbow.

S14-05 SESSION 14: FACIOCRANIOSYNOSTOSIS – PART III LANGUAGE OUTCOMES IN A RETROSPECTIVE STUDY OF CHILDREN WITH TCF12 MUTATIONS, A SINGLE CENTRE STUDY

Introduction: TCF12 mutations are a recent finding in craniosynostotic conditions, predominantly found in coronal synostosis. It accounts for 1% of all craniosynostosis and 17% of non syndromic bicoronal synostosis. As there is very little in the literature reporting on the speech and language outcomes of this group of children, it was felt important to analyse this subgroup of children and report on their language skills. This will help with their multi disciplinary management and parental explanations of associated risks. Methods: A retrospective review was carried out of receptive and expressive language skills in children, who met the criteria for diagnosis of TCF12 mutations; who attend Alder Hey Children’s Hospital Craniofacial Unit, Liverpool, UK. Patients’ medical and speech therapy notes were analysed, including any standardised testing carried out or informal assessment data gathered. In the absence of this data, information was gathered from telephone consultation. Results: 13 subjects met the inclusion criteria as having a positive diagnosis of TCF12 mutations from Sanger sequencing. M-F ratio was M6-F7. Within this cohort, 4 subjects presented with Left coronal synostosis, 4 with Right coronal synostosis, 4 with bicoronal synostosis and one subject had sagittal synostosis. Analysis was divided into 2 sub groups, <24months and >3years. In the first subgroup, 32% (n=4) presented with a delay in either their receptive and/or expressive language skills, whilst this number was 27% (n=3) in the older sub group. Only 11 subjects were included in the second data collection point, as 2 subjects were not yet at the minimum age required. Further analysis is to be done looking at type of synostosis and language delay and also on surgical intervention. Conclusion: This study shows that there is an increase in speech and language delay in children who have TCF12 mutations, greater than that found in the general population. It is an area that requires further investigation and this study represents a single centre report on a population hitherto not widely published on and is a preliminary study to a wider, 4 centre study, currently in progress.

Optimal management of post-traumatic radioulnar synostosis.

Post-traumatic radioulnar synostosis is a rare complication after forearm or elbow injury that can result in loss of motion and significant disability. Risk factors include aspects of the initial trauma and of the surgical treatment of that trauma. Surgical intervention for synostosis is the standard of care and is determined based on the location of the bony bridge. Surgical timing is recommended between 6 months and 2 years with recent advocacy for the 6- to 12-month period after radiographs demonstrate bony maturation but early enough to prevent further stiffness and contractures. For most types of synostosis, surgical resection with interposition graft is recommended. The types of materials used include synthetic, allograft, and vascularized and non-vascularized materials, but currently there is no consensus on which is the most preferable. Adjuvant therapy is not considered necessary for all cases but can be beneficial in patients with high risk factors such as recurrence or traumatic brain injury. Postoperative rehabilitation should be performed early to maintain range of motion.

Abstract: Altered Brain Functional Connectivity Varies By Form of Craniosynostosis

INTRODUCTION: Recent studies have begun to elucidate the long-term neurocognitive and behavioral sequelae of nonsyndromic craniosynostosis (NSC).1,2 With advances in functional MRI (fMRI) techniques with improved statistical rigor, this study seeks to determine if there is neurologic evidence of altered brain connectivity in NSC, and to investigate if these aberrations vary by form of synostosis. METHODS. Twenty participants (average age 11.6 ± 2.27 years, 15 males) with surgically-treated NSC (10 sagittal (SSO), 5 right unilateral coronal (UCS), 5 metopic (MSO)) were individually matched to controls by age, gender, and handedness. Resting-state fMRI was acquired in a 3T Siemens TIM Trio scanner (Erlangen, Germany). Data was motion-corrected with SPM (University College London) and underwent CSF and WM signal regression. BioImage Suite (Yale School of Medicine) was then used to analyze whole-brain intrinsic connectivity as well as seed-based connectivity for Brodmann Areas (BA) 7, 39 and 40, which are areas of language and visuospatial integration that have been previously implicated.3 Resulting group-level t-maps were cluster-corrected using nonparametric permutation tests with 5000 permutations in FSL (FMRIB, Oxford, UK).4 RESULTS: SSO demonstrated decreased whole-brain intrinsic connectivity compared to controls in left BA-39 and bilateral BA-7’s (p=0.071), which are the superior parietal lobules and the angular gyrus. UCS had significantly decreased intrinsic connectivity throughout the prefrontal cortex (PFC, p=0.031). On seed-based analysis, UCS had significantly increased connectivity between left BA-40 and bilateral BA-6, BA-8, and BA-9, and left BA-32 (p=0.050), between left BA-7 and the anterior PFC (p=0.065), and between left BA-7 and right BA-7 and BA-9 (p=0.077). MSO demonstrated increased connectivity between the left BA-7 seed and the right inferior frontal gyrus and right insula (p=0.090). CONCLUSION: NSC is associated with altered brain connectivity that varies by type of synostosis. SSO had decreased connectivity in regions of the parietal cortex associated with spatial cognition, visuomotor integration, and attention. UCS demonstrated significantly decreased intrinsic connectivity in the PFC, which plays a crucial role in executive function, as well as increased connectivity between the PFC and the right parietal cortex. Finally, MSO was the only group to demonstrate aberrations in the right insula and right inferior frontal gyrus. This study provides neurologic evidence of long-term sequelae of NSC that varies by suture type, which may underlie different phenotypes of neuropsychiatric impairment. Reference Citations: 1. Hashim PW, Patel A, Yang JF, et al. The effects of whole-vault cranioplasty versus strip craniectomy on long-term neuropsychological outcomes in sagittal craniosynostosis. Plast Reconstr Surg. 2014;134(3):491–501. 2. Kapp-Simon KA, Wallace E, Collett BR, Cradock MM, Crerand CE, Speltz ML. Language, learning, and memory in children with and without single-suture craniosynostosis. J Neurosurg Pediatr. 2016;17(5):578–588. 3. Beckett JS, Brooks ED, Lacadie C, et al. Altered brain connectivity in sagittal craniosynostosis. J Neurosurg Pediatr. 2014;13(6):690–698. 4. Eklund A, Nichols TE, Knutsson H. Cluster failure: Why fMRI inferences for spatial extent have inflated false-positive rates. Proc Natl Acad Sci U S A. 2016;113(28):7900–7905.

Custom made orthotic device for maintaining skull architecture during the postoperative period in infants undergoing craniosynostosis surgery

AimTo fabricate a cost effective, indigenous and simple orthotics helmet for post-operative cranial molding in patients with craniosynostosis surgery. MethodsWe present a case of 15 month old infant with secondary cranial vault deformity. Cranial vault remodeling surgery involving the posterior skull was planned and executed to increase the posterior gap, so that brain growth would be facilitated towards this empty space. Materials such as thermoplastic sponge, thermoplastic ionomer resin sheet, soft sponge and Velcro straps are used to fabricate a cranial orthotics helmet. ResultsWe have successfully used the above materials to fabricate the orthotics helmet for post-operative cranial molding. ConclusionThe technique described in this article is simple and cost effective. It can be custom made according to the demands of the surgical technique and the type of synostosis. It favors an individualistic prognosis, and proves worthwhile as every synostosis requires a unique treatment plan. It is an excellent adjuvant to craniosynostosis remodeling surgery.

Fronto-orbital advancement and total calvarial remodelling for craniosynostosis.

To describe the results of fronto-orbital advancement and remodelling for craniosynostosis in children. Case series. Department of Plastic Surgery, Combined Military Hospital, Rawalpindi, from June 2009 to June 2012. All the patients with cranial suture synostosis operated were included in the study. Those patients who were lost to follow-up were excluded. Variables considered were age, gender, type of synostosis, intracranial pressure, and history of previous surgeries for the same problem. Outcome measures were studied in terms of improvement of skull measurements (anteroposterior and bicoronal), duration of surgery, hospital stay, blood transfusions, complications and parents satisfaction. A total of 36 patients were included in the study. Male to female ratio was 3:1. The age ranged from 5 to 54 months. Thirty two patients presented with non-syndromic and four with syndromic craniosynostosis. Fronto orbital advancement and total calvarial remodelling was done in 26 and 10 patients respectively. There was improvement in the skull measurements and the parents were satisfied in all cases with the skull shape. Complications occurred in 11.1% including chest and wound infection and one death. Fronto-orbital advancement and remodelling is an effective procedure for the correction of craniosynostosis, however, individual cases may require other procedures like total calvarial remodelling.

Lambdoidal synostosis in dizygotic twins with a family history of an undiagnosed connective tissue disorder

Unilateral lambdoidal craniosynostosis is a rare disorder that occurs in approximately 3 % of all craniosynostosis phenotypes and only 0.03 % of one million live births. It is even more unusual for this type of synostosis to occur in siblings with only two other cases reported in the literature. We report a set of full-term dizygotic twins born with lambdoidal synostosis and a family history of connective tissue and cardiovascular anomalies. One of the twins also had concomitant bicoronal craniosynostosis. True familial lambdoidal synostosis is exceedingly rare. The present cases in dizygotic twins occurred in a family with a significant history of connective tissue disease suggesting a possible association.

Twenty-five-years follow-up results of our total cranial reshaping “bamboo-ware method”

For patients with craniosynostosis, there is no single procedure available for reconstructing a normal cranial shape, regardless of the type of deformity. To achieve ideal dynamic total skull remodeling for any type of craniosynostosis, we developed the bamboo-ware method. Using two or three coronal bars as landmarks, the anterior-posterior length of the skull was determined using the sagittal bandeau, thereby creating the basic framework for reconstruction. Bone was then bridged to the remaining defects in a manner resembling woven bamboo. We treated 30 craniosynostosis patients (20 isolated cases and 10 cases of syndromic craniosynostosis) using the bamboo-ware method. Although intracranial infection was observed in three cases during the postoperative period, no deaths or serious complications were noted. In all patients, good cranial shape and adequate cranial volume were achieved. The bamboo-ware method enabled outstanding results for every type of synostosis. This method could not only treat the deformity, but also resulted in good cranial form with a single operation.

The incidence of Chiari malformation in nonsyndromic, single suture craniosynostosis

This study was designed to determine the incidence of Chiari malformation (CM) in nonsyndromic single suture craniosynostosis (N-SSSC). A retrospective analysis of brain magnetic resonance imaging (MRI) studies of children undergoing craniofacial surgery during 1 January, 2004-31 March, 2009 in Cleft Palate and Craniofacial Centre, Department of Plastic Surgery, Helsinki University Hospital, Helsinki, Finland, was conducted. One hundred twenty-four N-SSSC patients were imaged using brain MRI. Of these 124 patients, seven patients were diagnosed with N-SSSC with an associated CM; the incidence CM in association with N-SSSC was thus 5.6%. The average age at the time of MRI was 37.7 months. All were males, except one. Only two types of synostosis were identified in this patient cohort: synostosis involving the sagittal suture in five cases and right coronal synostosis in two cases. The CM malformations were relatively large. The tonsillar herniation varied from 6 to 12 mm (median 9 mm). All these patients were asymptomatic of their CMs. None had operation designed directly to correct the CM. As a conclusion, we state that the association of CM and N-SSSC is a relatively common finding, with an incidence of 5.6% in preoperative brain MRI. The significance of finding CM in preoperative brain MRI should be assessed individually in asymptomatic patients.

Focus session on the changing “epidemiology” of craniosynostosis (comparing two quinquennia: 1985–1989 and 2003–2007) and its impact on the daily clinical practice: a review from Necker Enfants Malades

The aim of this study was to evaluate the evolution in craniosynostosis in terms of incidence and management in the last 20 years and to discuss the clinical implications and future perspectives with regards to the practical organization of daily practice. The relative incidence and management modalities of craniosynostosis hospitalized at the Craniofacial Unit of Necker, French National Referral Center for Faciocraniosynostosis, in two different quinquennia: 1985-1989 (group A) and 2003-2007 (group B) were reviewed. A total of 1,286 children were included in our study; group A 472, group B 814, that is an overall increase of 1.7-fold in the second period of the study. Sagittal synostosis remained the most frequent type (45% of cases in both groups). Conversely, the number of cases of Pfeiffer syndrome increased from seven patients to 20 (x2.8) and metopic synostosis cases increased from 49 to 193 (x3.9). Mean age at surgery in group A was 22.5 months and 13 months in group B. The comparison of the two quinquennia shows that there has been a change in the incidence of the different types of synostosis. The timing for surgery has also changed with the treatment of younger children in group B compared to group A. The principles of the surgical treatment of monosutural craniosynostosis have remained unmodified in our center. However, there has been an evolution in the techniques due to the introduction of new tools such as internal and external distractions, springs, and resorbable plates.

Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution. To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of craniosynostosis and other cranial vault changes seen in these conditions and to review the literature for relevant findings. Clinical and imaging records were reviewed on 28 patients with hypophosphatemic rickets, all younger than 18 years. Most patients had X-linked hypophosphatemic rickets and a few had autosomal-dominant hypophosphatemic rickets or were non-familial cases. Of the 28 patients, 13 had sagittal synostosis. Dolichocephaly was present in ten patients. The configuration of the cranial vault in some of these ten patients with dolichocephaly varied somewhat from that seen in nonsyndromic sagittal synostosis. In one patient, a Chiari I malformation was demonstrated by MRI. In another patient with increased intracranial pressure the sagittal suture closure was associated with lambdoidal synostosis. Dolichocephaly was not present in three patients, suggesting that the synostosis started later than in the other patients, probably in the second year of life, a period of slower brain growth than in the first year. The two patients in this group of three showed thickening and sclerosis of the cranial vault of uncertain etiology. There is an increased risk of sagittal synostosis in hypophosphatemic rickets and related diseases in children. The appearance of the cranial vault in this type of synostosis can vary from that seen in nonsyndromic synostosis. In this setting, careful clinical and imaging follow-up is warranted.