Part II: Blood Transfusion and Donor Exposure in the Surgical Management of Trigonocephaly Patients: A Protocol From Alder Hey Craniofacial Unit.

Trigonocephaly is a craniofacial malformation caused by premature fusion of the metopic suture. Surgical correction frequently results in the need for blood transfusion. Transfusion complications include transfusion-transmitted infections (TTIs), immune-mediated reactions, and volume overload. Donor exposure (DE) describes the number of blood products from unique donors with increasing DE equating to an increased risk of TTI. We evaluate data on 204 trigonocephaly patients covering 20 years of practice with respect to blood transfusions and DE. This represents the largest series from a single unit to date. A protocol based on our experiences has been devised that summarizes the key interventions we recommend to minimize blood transfusions and DE in craniofacial surgery. Patients operated on between 2000 and 2020 were included. DE and a range of values were calculated including estimated red cell loss (ERCL) and estimated red cell volume transfused (ERCVT). Groups were established by relevant interventions and compared using the Mann-Whitney U test. Mean DE fell from 1.46 at baseline to 0.85 ( P <0.05). Median allogenic transfusion volume fell from 350 mL at baseline to 250 mL ( P <0.05). Median ERCL fell from 15.05 mL/kg at baseline to 12.39 mL/kg and median ERCVT fell from 20.85 to 15.98 mL/kg. Changes in ERCL and ERCVT did not reach statistical significance. DE can be minimized with the introduction of key interventions such as a restrictive transfusion policy, preoperative iron, cell saver, tranexamic acid, and use of a matchstick burr for osteotomies.

Raine's syndrome: rare disease from neurosurgical perspective.

Raine's syndrome (RS) is a rare genetic disorder. Only 25 cases are in literature. Occurs due to genetic mutation resulting in deranged bone metabolism. Few cases are reported discussing the neurosurgical ramifications of the disease. We report a child diagnosed with RS. He was presented with multisutural synostosis requiring craniofacial intervention with two vault expansions. Additionally, required VP shunt due to hydrocephalus. We consider our case unique among reports of RS, as our patient has survived for 10. He died due to valve obstruction of the VP shunt. We also present a review of relevant medical literature.

Health-related quality of life following cranioplasty - a systematic review.

Cranioplasty is a neurosurgical procedure that repairs a defect in the skull Coupled with the underlying pathology cranioplasty associated morbidity can have a large impact on patient quality of life, which is often poorly explored. The objective of this systematic review was to identify patient-reported outcomes evaluating health-related quality of life following cranioplasty. The review protocol was registered on PROSPERO (CRD42021251543) and a systematic review was conducted in accordance with the PRISMA statement. PubMed, Embase, CINAHL Plus, and the Cochrane databases were searched from inception to 1 May 2022. All studies reporting HRQoL following cranioplasty were included. Reporting was assessed using the ISOQOL checklist and risk of bias was assessed using the Newcastle-Ottawa Scale or the Johanna-Briggs Institute Scale, as appropriate. A total of 25 studies were included of which 20 were cross-sectional and 2 longitudinal. Most studies utilized study specific questionnaires and Likert scales to assess HRQoL. The studies found a significant improvement in physical functioning, social functioning, cosmetic outcome, and overall HRQoL following cranioplasty. Further longitudinal studies utilising validated measurement tools are required to better understand the effect of cranioplasty at a patient level.

Patient Tailored Surgery in Saethre-Chotzen Syndrome: Analysis of Reoperation for Intracranial Hypertension.

Saethre-Chotzen syndrome (SCS) is a syndromic craniosynostosis with pathogenic variants in the TWIST1 gene showing a broad phenotypic spectrum. Controversies exist in the literature regarding surgical management with single one-stage versus patient-tailored surgery and the related reoperation rate for intracranial hypertension of up to 42%. At our center, SCS patients are offered patient-tailored surgery with single-stage fronto-orbital advancement and remodeling or fronto-orbital advancement and remodeling and posterior distraction in an individually determined order. The authors' database identified 35 confirmed SCS patients between 1999 and 2022. Involved sutures in craniosynostosis were left unicoronal (22.9%), bicoronal (22.9%), sagittal (8.6%), bicoronal and sagittal (5.7%), right unicoronal (2.9%), bicoronal and metopic (2.9%), bicoronal, sagittal and metopic (2.9%), and bilateral lambdoid (2.9%). There was pansynostosis in 8.6% and no craniosynostosis in 14.3% of the patients. Twenty-six patients, 10 females, and 16 males were operated on. Mean age at the first surgery was 1.70 years, and 3.86 years at the second surgery. Eleven of 26 patients had invasive intracranial pressure monitoring. Three patients presented with papilledema before the first surgery and 4 afterward. Four of the 26 operated patients were operated initially elsewhere. The other 22 patients were initially referred to our unit and underwent patient-tailored surgery. Nine of these patients (41%) had a second surgery, and 3 (14%) of them were because of raised intracranial pressure. Seven (27%) of all operated patients had a complication. Median follow-up was 13.98 years (range, 1.85-18.08). Patient-tailored surgery in a specialized center and long-term follow-up allow for a low reoperation rate for intracranial hypertension.

An Esthetic Scoring System for Scaphocephaly Assessment and Outcomes: A Pilot Study.

Scaphocephaly is the commonest form of craniosynostosis with a varied presentation consisting of many morphological components and a range of possible surgical interventions. However, with regard to esthetic assessment, there is no universally applied assessment system. The aim was to develop a simple assessment tool encompassing multiple phenotypic components of scaphocephaly. This was done by piloting a red/amber/green (RAG) scoring system to judge esthetic outcomes following scaphocephaly surgery using photographs and experienced observers. Standard photographic views of 20 patients who had undergone either passive or anterior 2/3 vault remodelling were scored by 5 experienced assessors. Using a RAG scoring system before and after scaphocephaly correction according to 6 morphological characteristics: visual impression of cephalic index, calvarial height, bitemporal pinching, frontal bossing, posterior bullet, and displacement of the vertex. All 5 assessors were asked to score the preoperative and postoperative views independently. The RAG scores were each assigned a number (1-3) and added to give a composite score (range 6-18) and these were averaged between the 5 assessors. There was a highly statistically significant difference between both preoperative and postoperative composite scores ( P <0.0001). A subgroup analysis of the postoperative composite score between the 2 surgical techniques showed no significant difference ( P =0.759). The RAG scoring system can be used to assess esthetic change following scaphocephaly correction and it provides both a visual analogue and a numerical indicator of change. This assessment method needs further validation but is a potentially reproducible way to score and compare esthetic outcomes in scaphocephaly correction.

The Paediatric Vault Score (PVS)-A Novel Scoring Tool for Prioritisation of Surgical Management of Craniosynostosis Patients.

Craniosynostosis is the premature fusion of the skull sutures, resulting in abnormal skull shape and volume. Timely management is a priority in avoiding raised intracranial pressure which can result in blindness and neurodevelopmental delay. Due to the COVID-19 pandemic, theater access was reduced. A risk stratification scoring system was thus devised to score patients attending surgery and aid in prioritization according to surgical need. The authors present the Paediatric Vault Score (PVS), which can also be customized to each unit's individual protocols. Ten patients on the waiting list were randomly selected and their clinical information was summarized in uniform anonymized reports. Six craniofacial consultants were selected as assessors and given 1 week to independently rank the patients from 1 to 10. Each scorer's ranking was verified against the PVS template and concordance was analyzed using the Kendall tau correlation coefficient (KT). Three cycles of the scoring process were carried out. Improvements were made to the scoring tool following cycle 1. Cycle 1 revealed 2 clinicians to be concordant with the PVS system and 4 to be discordant. Cycle 2 revealed all 6 clinicians to be concordant, with a mean KT score of 0.61. The final cycle revealed all 6 clinicians to be concordant, with a mean KT score of 0.70. Four scorers increased their concordance once the scoring sheet was introduced. Kendall's correlation of concordance calculated the interrater reliability to be 0.81. The PVS is the first known vault scoring system to aid in risk stratification and waiting list prioritization.

Applications of 3D Photography in Craniofacial Surgery.

Three-dimensional (3D) photography is becoming more common in craniosynostosis practice and may be used for research, archiving, and as a planning tool. In this article, an overview of the uses of 3D photography will be given, including systems available and illustrations of how they can be used. Important innovations in 3D computer vision will also be discussed, including the potential role of statistical shape modeling and analysis as an outcomes tool with presentation of some results and a review of the literature on the topic. Potential future applications in diagnostics using machine learning will also be presented.

Cranioplasty with hydroxyapatite or acrylic is associated with a reduced risk of all-cause and infection-associated explantation.

OBJECTIVE: Cranioplasty remains an essential procedure following craniectomy but is associated with high morbidity. We investigated factors associated with outcomes following first alloplastic cranioplasty. METHODS: A single-centre, retrospective cohort study of patients undergoing first alloplastic cranioplasty at a tertiary neuroscience centre (01 March 2010-01 September 2021). Patient demographics and craniectomy/cranioplasty details were extracted. Primary outcome was all-cause explantation. Secondary outcomes were explantation secondary to infection, surgical morbidity and mortality. Multivariable analysis was performed using Cox proportional hazards regression or binary logistic regression. RESULTS: Included were 287 patients with a mean age of 42.9 years [SD = 15.4] at time of cranioplasty. The most common indication for craniectomy was traumatic brain injury (32.1%, n = 92). Cranioplasty materials included titanium plate (23.3%, n = 67), hydroxyapatite (22.3%, n = 64), acrylic (20.6%, n = 59), titanium mesh (19.2%, n = 55), hand-moulded PMMA cement (9.1%, n = 26) and PEEK (5.6%, n = 16). Median follow-up time after cranioplasty was 86.5 months (IQR 44.6-111.3). All-cause explantation was 12.2% (n = 35). Eighty-three patients (28.9%) had surgical morbidity. In multivariable analysis, the risk of all-cause explantation and explantation due to infection was reduced with the use of both hydroxyapatite (HR 0.22 [95% CI 0.07-0.71], p = .011, HR 0.22 [95% CI 0.05-0.93], p = .040) and acrylic (HR 0.20 [95% CI 0.06-0.73], p = .015, HR 0.24 [95% CI 0.06-0.97], p = .045), respectively. In addition, risk of explantation due to infection was increased when time to cranioplasty was between three and six months (HR 6.38 [95% CI 1.35-30.19], p = .020). Mean age at cranioplasty (HR 1.47 [95% CI 1.03-2.11], p = .034), titanium mesh (HR 5.36 [95% CI 1.88-15.24], p = .002), and use of a drain (HR 3.37 [95% CI 1.51-7.51], p = .003) increased risk of mortality. CONCLUSIONS: Morbidity is high following cranioplasty, with over a tenth requiring explantation. Hydroxyapatite and acrylic were associated with reduced risk of all-cause explantation and explantation due to infection. Cranioplasty insertion at three to six months was associated with increased risk of explantation due to infection.

Convolutional mesh autoencoders for the 3-dimensional identification of FGFR-related craniosynostosis.

Clinical diagnosis of craniofacial anomalies requires expert knowledge. Recent studies have shown that artificial intelligence (AI) based facial analysis can match the diagnostic capabilities of expert clinicians in syndrome identification. In general, these systems use 2D images and analyse texture and colour. They are powerful tools for photographic analysis but are not suitable for use with medical imaging modalities such as ultrasound, MRI or CT, and are unable to take shape information into consideration when making a diagnostic prediction. 3D morphable models (3DMMs), and their recently proposed successors, mesh autoencoders, analyse surface topography rather than texture enabling analysis from photography and all common medical imaging modalities and present an alternative to image-based analysis. We present a craniofacial analysis framework for syndrome identification using Convolutional Mesh Autoencoders (CMAs). The models were trained using 3D photographs of the general population (LSFM and LYHM), computed tomography data (CT) scans from healthy infants and patients with 3 genetically distinct craniofacial syndromes (Muenke, Crouzon, Apert). Machine diagnosis outperformed expert clinical diagnosis with an accuracy of 99.98%, sensitivity of 99.95% and specificity of 100%. The diagnostic precision of this technique supports its potential inclusion in clinical decision support systems. Its reliance on 3D topography characterisation make it suitable for AI assisted diagnosis in medical imaging as well as photographic analysis in the clinical setting.

Part 1: Surgical Correction in 231 Trigonocephaly Patients - The Alder Hey Experience.

ABSTRACT: Isolated metopic synostosis presents with a range of severity, from a palpable ridge as the sole presenting feature to a constellation of features resulting in trigonocephaly. At our unit, patients on the moderate to severe end of the phenotypic spectrum of trigonocephaly are offered fronto-orbital advancement and remodeling. The authors present our series of trigonocephaly patients who have undergone surgical correction. From January 2000 to January 2020, the authors operated on 231 patients with trigonocephaly. The average age at surgery was 18 months, with an average follow-up of 77.4 months. Seventy-nine percent of patients had no comorbidity. Ten percent of patients sustained a dural tear with no long-term consequences. The total early complication rate was 12.1%. The most common early complications were wound infection and wound dehiscence at 7.4% and 3.9% respectively. The total reoperation rate was 6.5%. The introduction of infection prevention and control measures over the 2 decades at our unit reduced the reoperation rate to 1.1%. The most common late complication was temporal recession in 20.8% of patients, none of whom required aesthetic correction. The recurrence rate of a metopic ridge was 2.3% with no patients requiring further surgery. None of our patients required calvarial remodeling for raised intracranial pressure after the primary fronto-orbital advancement and remodeling. There were no life-threatening complications or mortalities in our cohort. The authors present recommendations which include an infection control care bundle, cessation of surgical drains, and practice adjustments to reduce risks of infection and risk of requiring further calvarial remodelling for raised intracranial pressure.

Growing old: Do women and men age differently?

Aging of the head and especially the face has been studied intensively, yet questions remain about the timing and rates of aging throughout adulthood and about the extent to which aging differs between men and women. Here we address these issues by developing statistical models of craniofacial aging to describe and compare aging through the life course in both sexes. We selected cranial surface meshes from 254 females and 252 males, aged from 20 to 90 years from the Headspace project, Liverpool, UK. Sixteen anatomical landmarks and 59 semilandmarks on curves and surfaces were used to parameterize these. Modes and degrees of aging throughout adulthood were assessed and compared among sexes using Procrustes-based geometric morphometric methods. Regression analyses of form through the whole age range indicate that age accounts for a small proportion of total variance in both sexes, but form is significantly related to age and males and females age in significantly different ways. Further analyses indicate that aging differs in character, timing, and rates in both sexes between early and later phases of adulthood. Sexual differences in aging are evident in the early and later phases of adulthood. The study adds to knowledge of the aging of adult craniofacial form and sexual dimorphism. It is based on a local population and so the findings are directly applicable to that population. Further studies are needed to assess generalizability and provide better data on population differences to facilitate clinical assessment and treatment planning.

3D Modeling of craniofacial ontogeny and sexual dimorphism in children.

BACKGROUND: The range of normal variation of growth and development of the craniofacial region is of direct clinical interest but incompletely understood. Here we develop a statistical model of craniofacial growth and development to compare craniofacial ontogeny between age groups and sexes and pilot an approach to modeling that is relatively straightforward to apply in the context of clinical research and assessment. METHODS: The sample comprises head surface meshes captured using a 3dMD five-camera system from 65 males and 47 females (range 3-20 years) from the Headspace project, Liverpool, UK. The surface meshes were parameterized using 16 anatomical landmarks and 59 semilandmarks on curves and surfaces. Modes and degrees of growth and development were assessed and compared among ages and sexes using Procrustes based geometric morphometric methods. RESULTS: Regression analyses indicate that 3-10 year olds undergo greater changes than 11-20 year olds and that craniofacial growth and development differs between these age groups. The analyses indicate that males extend growth allometrically into larger size ranges, contributing substantially to adult dimorphism. Comparisons of ontogenetic trajectories between sexes find no significant differences, yet when hypermorphosis is accounted for in the older age group there is a significant residual sexual dimorphism. CONCLUSIONS: The study adds to knowledge of how adult craniofacial form and sexual dimorphism develop. It was carried out using readily available software which facilitates replication of this work in diverse populations to underpin clinical assessment of deformity and the outcomes of corrective interventions.

Isolated Frontosphenoidal Craniosynostosis: The Alder Hey Experience and a Novel Algorithm to Aid Diagnosis.

ABSTRACT: Unilateral synostotic frontal plagiocephaly is most commonly due to a premature fusion of the frontoparietal suture. However, the coronal ring comprises of major and minor sutures and these sutures in isolation or in combination can result in similar clinical presentations which can make diagnosis challenging and result in a delay in referral to a craniofacial surgeon for timely management. Isolated frontosphenoidal craniosynostosis is a rare clinical entity with only 49 cases reported in the English literature to date. The authors present our series of 4 patients to add to this cohort of patients and describe key characteristics to distinguish frontoparietal from isolated frontosphenoidal synostosis and introduce a means of differentiating these 2 diagnoses from posterior deformational plagiocephaly and unilateral lambdoid synostosis. All previous case reports have been diagnosed after radiological imaging but the authors have devised a novel algorithm to aid the clinician in diagnosis of craniosynostosis before any radiological imaging.

On the Definiteness of Earth Mover's Distance and Its Relation to Set Intersection.

Positive definite (PD) kernels are an important tool in machine learning that enable efficient solutions to otherwise difficult or intractable problems by implicitly linearizing the problem geometry. In this paper, we develop a set-theoretic interpretation of the earth mover's distance (EMD) and propose earth mover's intersection (EMI), a PD analog to EMD for sets of different sizes. We provide conditions under which EMD or certain approximations to EMD are negative definite. We also present a PD-preserving transformation that can be applied to any kernel and can also be used to derive PD EMD-based kernels and show that the Jaccard index is simply the result of this transformation. Finally, we evaluate kernels based on EMI and the proposed transformation versus EMD in various computer vision tasks and show that EMD is generally inferior even with indefinite kernel techniques.

Delayed Presentation of Isolated Sagittal Synostosis With Raised Intracranial Pressure and Secondary Chiari Malformation With Cervical Syringomyelia.

Sagittal craniosynostosis (SC) is the most common type of premature suture fusion presenting in approximately 1 in every 5000 births with a 3:1 male:female ratio. The most common indication for surgery is the improvement of the cosmetic appearance of the skull, since a cranial deformation may have a significant psychosocial impact on affected patients. Relief from raised intracranial pressure is a further indication for surgery, although an increased intracranial pressure (ICP) can be demonstrated only in a minority of affected children at diagnosis. It is even more rare to have Chiari malformations (CMs) secondary to ICP in an isolated SC, as shown in a study by Strahle et al (Neurosurg Focus 2011;31:E2), demonstrating only 5 (3%) of the 183 with isolated sagittal synostosis having a CM. The authors present the rare case of a 4-year-old boy presenting late with raised intracranial pressure (40 mm Hg) and his management with 1 stage vault expansion and decompression of CM.

Improving the Aesthetic Outcome in Scaphocephaly Correction: Hairline Lowering During Vault Remodeling Procedures.

The bossed forehead in patients with scaphocephaly often leads to a high hairline. A new technique to improve the aesthetic outcome of patients undergoing scaphocephaly correction is described. Sixteen patients with scaphocephaly and having a high hairline due to frontal bossing who underwent scaphocephaly correction by subtotal or total vault remodeling were analyzed. The median age at surgery was 18 months. The mean distance between the nasofrontal suture and the hairline was preoperatively 70 mm (range 58-91). An obvious lowering of the hairline could be achieved in all 16 patients. The mean postoperative distance nasofrontal suture to hairline was 59 mm (range 50-73). There were no complications associated with the technique. The hairline lowering technique is a useful addition to vault remodeling techniques and can improve the postoperative aesthetic appearance considerably. The authors recommend this technique in scaphocephaly patients, who present with a high hairline.

Pseudomeningocele With Orbital Extension as a Complication of Fronto-Orbital Advancement and Remodeling in Craniosynostosis.

AIM: The authors present a series of patients who developed a pseudomeningocele following fronto-orbital advancement and remodeling (FOAR), describing clinical presentation, investigations, and management. Risk factors are identified and preventative strategies suggested. MATERIALS AND METHODS: From 2002 to 2012, all patients who underwent FOAR at our unit were identified. Those who developed a pseudomeningocele were selected and case notes, scan imaging and photographs were reviewed. RESULTS: Two hundred thirty-six FOAR operations were carried out over 12 consecutive years. Sixty-one of these patients were syndromic. A pseudomeningocele occurred in 6 patients. All affected cases were syndromic. Clinical features of presentation with orbital pseudomeningocele included orbital swelling, ptosis, proptosis, and/or hypoglobus. Raised intracranial pressure (ICP) was managed before pseudomeningocele repair in 2 patients, at the time of pseudomeningocele repair using an extra-ventricular drain (EVD) or lumbar drain in 4 patients. Decompression of the pseudomeningocele with excision and duraplsty was carried out in 5 patients, 1 patient required excision of gliotic brain and obliteration of dead space. Four patients had a calvarial graft to manage the bony defect and a further 2 had a titanium mesh. None of the patients had a recurrence of the pseudomeningocele or any long-term ocular or aesthetic complications. CONCLUSION: Pseudomeningocele has not previously been described in FOAR, but in a large series of consecutive patients, we have identified a 2.5% incidence. This incidence increases to 10% in the syndromic population of patients undergoing FOAR. The risk factors include a diagnosis of syndromic craniosynostosis, dural tear, hydrocephalus or raised ICP, infection, persistent cerebrospinal fluid (CSF) leak, or presence of dead space. Preventative strategies include CSF management before or post-FOAR. The ultimate treatment of the pseudomeningocele and growing fracture involves surgical decompression of the collection, a duraplasty, reconstruction of the orbital roof, and temporary CSF diversion.

Positional plagiocephaly: experience with a passive orthotic mattress.

Positional plagiocephaly (deformational or occipital plagiocephaly) is the most common head-shape deformity, which is presented to specialist craniofacial units. The aim of management is to reduce pressure on the affected area in the expectation that brain growth will drive normalization of the head shape. Current management includes a variety of protocols based on repositioning advice or helmet orthotics. The aim of this study is to document changes in head shape associated with use of a passive orthotic mattress for the management of positional plagiocephaly of a series of 30 patients at Alder Hey Children's Hospital between April 2008 and June 2010. Cranial vault asymmetry was assessed before treatment and was classified into mild, moderate, or severe plagiocephaly. Follow-up demonstrated a significant improvement in cranial vault asymmetry in those treated with the passive orthotic mattress.

Extradural abscess secondary to Salmonella enteritidis in a child following fronto-orbital facial advancement and remodeling surgery.

Intracranial infections caused by Salmonella are rare. We describe the first case of a child undergoing craniofacial surgery for trigonocephaly and subsequently developing an extradural abscess secondary to likely community-acquired Salmonella enteritidis. He underwent surgical washout but returned to theater for a further 2, alongside a prolonged course of intravenous ciprofloxacin. We observed extensive anterior skull bone loss at 78 days postoperatively. At 1 year 11 months, extensive anterior skull bone remodeling had taken place, and the child is currently well.

Resonance and speech articulation after midface advancement in craniofacial dysostosis.

OBJECTIVE: This study aimed to analyze changes in resonance and speech articulation after midface advancement in syndromic craniofacial patients and to assess the influence of craniofacial diagnosis and the presence or absence of a cleft palate. METHODS: This study is a retrospective analysis of resonance and speech articulation in patients after midface advancement. This project was carried out in a multidisciplinary pediatric craniofacial service. Eighteen patients underwent midface advancement between 2002 and 2009. Three were excluded because of inadequate records or presence of tracheostomy. Midface advancement was done by Le Fort III, facial bipartition, or monobloc, either conventional surgery or distraction osteogenesis. Outcomes include perceptual assessment of articulation and resonance using GOS.SP.ASS.98 revised and recommendation for speech surgery. RESULTS: Hypernasality scores decreased in 7 patients (46.7%), and 5 patients were recommended for speech surgery. Hyponasality scores improved in 10 patients (66.7%), were unchanged in 3 patients (20%), and decreased in 2 patients (13%). Articulation changed (improved) in 1 patient (6.7%) only. Hypernasality scores decreased in 33.3% of Crouzon and 71.4% of Apert patients. Five patients had a cleft palate, 4 had Apert syndrome, and hypernasality scores decreased in 3 patients. Of 3 patients with Apert syndrome but no cleft palate, 2 (66.7%) also had a decrease in hypernasality scores. CONCLUSIONS: Our findings suggest a high incidence of deterioration in velopharyngeal function after midface advancement, particularly in Apert syndrome, regardless of the presence of a cleft, and an improvement in hyponasality, but minimal change in articulation. Larger prospective multicenter studies are required to investigate these findings further.