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Purpose: Visual and motility disorders have been reported in cases of syndromic and non-syndromic craniosynostosis. However, to the best of our knowledge, no regional or local studies have addressed the prevalence of ocular manifestations in craniosynostosis among Middle Eastern populations. The purpose of this study was to describe the frequency and nature of ophthalmic abnormalities in Arab children with craniosynostosis and to evaluate these findings pre- and post-craniofacial surgery., Materials and Methods: A prospective cohort study of 31 children with craniosynostosis. Demographic information was gathered along with genetic results and ophthalmic evaluations, including cycloplegic refraction., Results: Age at presentation to the ophthalmology service ranged from 14 months to 8 years, with a median of 3 years. Sixteen patients were female (52%), and 24 patients had undergone a cycloplegic refraction. Of these, 20.8% had significant refractive errors; of those with refractive errors, 40% were myopic and 60% were hyperopic. Eight patients (25.8%) had papilledema, with significant improvement after craniofacial surgery. Five patients (16%) had visual acuity≤20/30 in at least one eye at baseline with improvements in follow-up visits., Conclusion: Craniosynostosis has a significant impact on visual function in the Arab population. Potentially correctable cases of visual impairment, such as those caused by amblyogenic refractive error and papilledema, are commonly encountered; therefore, timely referral and regular ophthalmic evaluation are recommended for these patients., (Copyright © 2024 Elsevier Masson SAS. All rights reserved.)

Purpose: This study aimed to analyze correlations among respiratory function, upper airway expansion, and the extent of midface advancement in syndromic craniosynostosis patients with obstructive sleep apnea., Materials and Methods: A retrospective study was conducted in 21 children with syndromic craniosynostosis who underwent Le Fort III osteotomy and distractive osteogenesis at the Department of Oral and Maxillofacial Surgery of Peking University International Hospital from October 2017 to December 2022. Computed tomography (CT) data of patients before surgery (T0), 3 months after surgery (T1), and 1 year after surgery (T2) were reviewed. Sleep apnea was evaluated using polysomnography at the corresponding postoperative times. Skeletal changes were evaluated by cephalometric measurements; airway morphology was evaluated by two-dimensional cross square and three-dimensional volume; and respiratory function was measured using the apnea-hypopnea index (AHI), mean oxygen saturation (SpO 2 ), minimum SpO 2 , and the 3% decline in the SpO 2 index. A paired t-test was used to evaluate changes before and after surgery. A P value of <0.05 was considered to indicate statistical significance. Pearson correlation analysis was used to determine correlations among the skeletal structure, airway morphology, and respiratory function., Results: Significant differences were noted between T0 and T1 in terms of cephalometry landmarks, airway volume, and cross-sectional area (P < 0.05) but not between T1 and T2 (P > 0.05). Similarly, significant differences were detected in AHI, average SpO 2 level, minimum SpO 2 level, and 3% oxygen hypoxia index between T0 and T1 but not between T1 and T2 (P > 0.05). The change in SN-PNS was significantly correlated with an improvement in AHI (P = 0.024) and 3% oxygen hypoxia index (P = 0.019), and the change in palatopharyngeal airway area(Ar B) was significantly correlated with an improvement in minimum SpO 2 (P = 0.018)., Conclusion: Le Fort III osteotomy and distraction are effective in enlarging the upper airway width and improving sleep apnea in syndromic craniosynostosis patients. Cephalometric changes in S-PNS and improvement in Ar B were correlated with long-term improvements in polysomnography outcomes., Competing Interests: Declaration of competing interest The authors declare that they have no conflicts of interest., (Copyright © 2024. Published by Elsevier Ltd.)

Background: Favorable behavioral interactions are critical for academic and interpersonal success. An association between metopic synostosis and behavioral impairments has not been fully elucidated. Behavioral dysfunction in school-age children with surgically corrected metopic synostosis was evaluated using targeted testing to detect the most common behavioral abnormalities in this population., Methods: Parents of children 6 to 18 years of age with metopic synostosis completed the Conners Rating Scales, 3rd edition (Short Form) (Conners-3; attention-deficit/hyperactivity disorder), Social Responsiveness Scale, 2nd edition (SRS-2; autism spectrum disorder), Behavior Rating Inventory of Executive Function, 2nd edition (executive functioning), and Child's Behavioral Checklist (behavioral/emotional functioning). Children also completed neurocognitive testing. Multivariable regression was used to determine predictors of clinically significant behavioral impairments., Results: Sixty children were enrolled. Average age at surgery was 9.2 ± 7.9 months, with an average age at assessment of 10.3 ± 3.5 years. Nearly half of patients demonstrated symptoms associated with attention-deficit/hyperactivity disorder, demonstrated by reaching or exceeding borderline clinical levels for inattention and hyperactivity subscales of the Conners-3. Greater age at surgery was associated with worse executive function, measured by reaching or exceeding clinically significant levels of the executive function subscale of the Conners-3 ( P = 0.04) and subscales of the Behavior Rating Inventory of Executive Function, 2nd edition (Behavioral Regulator Index [ P = 0.05], Cognitive Regulatory Index [ P = 0.03], and Global Executive Composite [ P = 0.04])., Conclusions: Nearly half of patients with surgically corrected metopic synostosis reached borderline clinical scores for inattention and hyperactivity. Older age at surgery was associated with worse executive function. Prompt surgical correction of metopic synostosis may portend improved long-term emotional and behavioral function., Clinical Question/level of Evidence: Therapeutic, III., (Copyright © 2023 by the American Society of Plastic Surgeons.)

Background: In patients with craniosynostosis, the authors evaluated the diagnostic accuracy of fundoscopy and optical coherence tomography (OCT) to detect intracranial hypertension (ICH), the time course of retinal thickness after treatment of ICH, and the relationship between high hyperopia (HH) and fundoscopy/OCT scan findings., Methods: Patients with syndromic, multisuture, unicoronal, unilambdoid, or sagittal synostosis visiting the authors' national center were included in this longitudinal cohort study and formed a consecutive series. Retinal layers on OCT, OCT fundus images, and fundoscopy results were evaluated. ICH was scored according to presence of abnormal intracranial pressures, hydrocephalus, progressive cerebellar tonsillar herniation or fingerprinting, and growth arrest. Diagnostic accuracy of OCT, fundoscopy, and fundus image; the time course of retinal thickness after ICH; and interference of HH were analyzed using linear mixed models., Results: A total of 577 OCT scans in 307 patients were included. ICH was found in 7.2%. Combining total retinal thickness (TRT), OCT fundus imaging and fundoscopy resulted in a sensitivity of 76% and 81% specificity to detect signs of ICH. TRT was increased in patients who had had signs of ICH versus patients who had never had signs of ICH (β +44.9 µm in patients who had had ICH [95% CI, 9.0 to 80.8]; P = 0.01). TRT decreased to normal in the years after surgery (β -3.6 µm/yr [95% CI, -7.2 to -0.05]; P = 0.047). There were greater odds of having increased TRT in patients with HH (OR, 2.9 [95% CI, 1.1 to 7.6]; P = 0.03)., Conclusions: The correlation among TRT, OCT fundus image, fundoscopy, and particularly the combination of these measures with intracranial pressure surrogate markers is fair. Increased TRT in the presence of a clinical suspicion of ICH warrants further screening., Clinical Question/level of Evidence: Diagnostic, III., (Copyright © 2023 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of the American Society of Plastic Surgeons.)

Background: Radiographic severity of metopic synostosis has been suggested as a predictor of long-term neurocognitive outcomes, and artificial intelligence (AI) has recently been used to quantify severity. Age at surgery is predictive of long-term neurocognition in sagittal synostosis but has not been adequately explored in metopic synostosis., Methods: Children ages 6 to 18 years with corrected metopic synostosis underwent testing of intelligence quotient, academic achievement, and visuomotor integration (VMI). Various manual measurements and AI-derived severity scores were determined. Scans were categorized as moderate or severe for head-to-head comparisons and multivariable linear regressions were used to assess the relationship of age at surgery and severity with neurocognitive outcomes., Results: A total of 41 patients with average age at testing of 10.8 ± 3.4 years were included. A total of 18 patients were in the severe group and 23 patients were in the moderate group, with average ages at surgery of 6.6 ± 2.7 and 10.6 ± 8.4 months, respectively ( P = 0.062). Greater AI-derived severity was significantly associated with lower reading comprehension ( P = 0.040 and 0.018) and reading composite scores ( P = 0.024 and P = 0.008). Older age at surgery was significantly associated with lower VMI scores ( P values ranging from 0.017 to 0.045) and reading composite scores ( P = 0.047 and 0.019)., Conclusions: This study suggests an association between greater AI-derived radiographic severity and lower reading ability in corrected metopic synostosis. Older age at surgery was independently associated with lower reading ability and VMI. Surgical correction may mitigate neurodevelopmental differences based on severity that have been observed preoperatively., Clinical Question/level of Evidence: Risk, II., (Copyright © 2023 by the American Society of Plastic Surgeons.)

Purpose: Children with surgically corrected nonsyndromic craniosynostosis have been previously found to have neurocognitive and behavioral difficulties. Children with metopic synostosis have been described to have more difficulties than children with sagittal synostosis. This study aims to characterize the behavioral differences between children with metopic and sagittal synostosis., Methods: Children with metopic and sagittal synostosis were recruited at school age. Parents completed four separated behavioral assessments: Conners-3 (evaluation of ADHD), Social Responsiveness Scale-2 (SRS-2: evaluation of autism), Behavior Rating Inventory of Executive Function-2 (BRIEF-2: evaluation of executive function), and Child Behavior Checklist (CBCL: evaluation of overall behavioral problems). Children underwent intelligence quotient (IQ) testing using the Wechsler Abbreviated Scale of Intelligence (WASI-II)., Results: There were 91 children (45 with metopic and 46 with sagittal synostosis). More children with metopic synostosis reported requiring supportive services (57.7% vs 34.7%, p = 0.02) and more reached or exceeded borderline clinical levels of two executive function subscales of the BRIEF-2 (emotion regulation index: 33.3% vs 17.4%, p = 0.05; global executive composite: 33.3% vs 17.4%, p = 0.05). Children with sagittal synostosis had higher scores on the rule-breaking and externalizing problem subscales of the CBCL. Increasing age at surgery was associated with worse executive function scores., Conclusions: A relationship between suture subtype and behavioral outcomes exists at school age. More children with metopic synostosis required social services indicating more overall difficulties. Children with metopic synostosis have more specific problems with executive function, while children with sagittal synostosis had more difficulties with externalizing behaviors., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: To investigate whether patients with craniosynostosis exhibit higher rates of nasolacrimal duct obstruction (NLDO) and to explore potential risk factors., Methods: Retrospective review including all craniosynostosis patients treated at both the Divisions of Ophthalmology and Plastic, Reconstructive, and Oral Surgery at The Children's Hospital of Philadelphia between 2009 and 2020 was conducted. Synostosis characteristics, lacrimal disorders, and genetic data were collected. Main outcome measures were the rate of NLDO and associations with anatomical and syndromic/genetic risk factors., Results: The total of 767 participants had a mean age of 2.8 ± 3.8 years, 465 (60.6%) were males, 485 (63.2%) had no syndromic association; 631 (82.3%) had one major suture involved, 128 (17%) had involvement of 2 to 4 major sutures, and 429 (55.9%) underwent craniofacial surgery. Forty-eight (6.2%) patients had NLDO, which more prevalent in the genetic/syndromic group (11.0% vs. 3.5%, respectively, p < 0.001), with the highest prevalence observed in patients with Apert syndrome (n = 4, 30.8%). The genetic variants most associated with NLDO were EFNB1 (n = 1, 100%) and FGFR2 (n = 6, 19.4%). There was no association between NLDO and the number or types of sutures involved or a history of craniofacial surgery., Conclusions: Nasolacrimal duct obstruction is more common in patients with craniosynostosis compared to the general population. Having a putative syndrome or a putative genetic variant and female sex were risk factors for NLDO. Ophthalmic evaluations for all craniosynostosis patients and careful assessments of any symptoms of tearing are recommended., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2024 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Background: Flat head syndrome (FHS) sometimes occurs when a baby maintains the same head position during the first several months of life, causing a skull deformity. FHS usually improves with time and natural growth, although some show aggravation against conservative treatment. We reviewed pathologically proved early closure of skull suture that may be seen secondary to FHS., Methods: The clinical and radiologic findings of the patients who showed progressive skull deformity resembling FHS were retrospectively reviewed. All the patients underwent surgical treatment and pathologic specimens were obtained., Results: The detected patients included two 5-month-old infants and one 1-year-old child. The former were conservatively treated without any obvious premature suture closure on computed tomography (CT), and later developed progressive tower-like skull deformities. The infants were diagnosed with possible premature fusion of lambda site and underwent removal around lambda depression (LD). The latter showed evident sagittal suture closure on CT with digital markings, and was diagnosed with increased intracranial pressure and underwent cranioplasty of posterior expansion. Histopathologic specimens obtained from the patients' resected sutures showed irregularly narrowed suture structure with ossification and fibrous tissue proliferation within them, supporting the diagnosis of premature closure of the sagittal sutures. Their postoperative courses were uneventful, and their skull deformities subsequently improved., Conclusions: Conservative therapy-resistant progressive occipital skull deformity with LD may be a sign of early suture closure, even if CT does not show obvious suture closure. The findings are helpful for early diagnosis and might lead to minimal invasive surgery if needed., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Purpose: Treatment of subjects with refractory idiopathic intracranial hypertension (IIH) or shunted hydrocephalus with chronic shunt complications is challenging. What is the role for cranial vault expansion, particularly utilizing posterior vault distraction osteogenesis (PVDO), in these cases? This study assesses medium-term efficacy of cranial vault expansion in this unique patient population., Methods: A retrospective review was conducted of patients who underwent cranial vault expansion from 2008 to 2023 at the Children's Hospital of Philadelphia. Subjects who did not have a diagnosis of primary craniosynostosis were included in the study. Demographic information, medical history, and perioperative details were collected from medical records. Primary outcomes were the rate of CSF diversion procedures and resolution of presenting signs and symptoms. Secondary outcomes were perioperative and 90-day complications and reoperation requirement., Results: Among 13 included subjects, nine (69.2%) patients had a primary diagnosis of shunted hydrocephalus and 4 (30.8%) patients had IIH. Twelve (92.3%) subjects underwent posterior vault distraction osteogenesis (PVDO) and one (7.7%) underwent posterior vault remodeling (PVR). All 4 patients with IIH demonstrated symptomatic improvement following PVDO, including resolution of headaches, vomiting, and/or papilledema. Among 9 patients with shunted hydrocephalus, CSF diversion requirement decreased from 2.7 ± 1.6 procedures per year preoperatively to 1.2 ± 1.8 per year following cranial vault expansion (p = 0.030). The mean postoperative follow-up was 4.1 ± 2.1 years and four (30.8%) patients experienced complications within 90 days of surgery, including infection (n = 2), CSF leak (n = 1), and elevated ICP requiring lumbar puncture (n = 1). Four (30.8%) patients underwent repeat cranial vault expansion for recurrence of ICP-related symptoms. At most recent follow-up, 7 of 9 patients with shunted hydrocephalus demonstrated symptomatic improvement., Conclusion: Cranial vault expansion reduced intracranial hypertension-related symptomology as well as the rate of CSF diversion-related procedures in patients with refractory IIH and shunted hydrocephalus without craniosynostosis, and should be considered in those who have significant shunt morbidity., Competing Interests: Declarations. Competing interests: The authors declare no competing interests. Conflict of interest: The authors have no relevant financial or non-financial interest to disclose. No funding was received to assist with the preparation of this manuscript., (© 2024. The Author(s).)

Background: Children with metopic synostosis have been found to have more neurocognitive and behavioral difficulties. The variables that may affect future neurodevelopmental outcomes, including presenting morphologic severity, have not been fully studied. In the largest study to date, we aimed to assess what portends worse neurocognitive and behavioral outcomes at school age., Methods: Children 6-18 years old with surgically corrected metopic nonsyndromic craniosynostosis underwent neurocognitive testing. Parents completed behavior rating surveys about their child: Conners-3 (ADHD), Social Responsiveness Scale-2 (autism spectrum disorder), Behavior Rating Inventory of Executive Function-2 (BRIEF-2: executive function), and Child's Behavior Checklist (overall behavior). The endocranial bifrontal angle (EBA), adjusted EBA (aEBA), frontal angle (FA), and AI-derived metopic severity score (MSS) were determined on pre-operative CT images. Multivariate linear regressions were used to evaluate the association of age at surgery and severity., Results: There were 87 children who underwent neurocognitive testing (average age 10.9 ± 3.3 years) of whom 67 also completed behavioral assessments. Greater phenotypical severity of metopic synostosis (lower FA, aEBA, and EBA) was associated with worse scores on the subscales of the BRIEF-2 (executive function) and executive subscale of the Conners-3. Increasing age at surgery was associated with worse executive function subscale scores of the Conners-3 when controlling for each severity measurement and sociodemographic risk., Conclusion: Children with greater phenotypic severity of metopic synostosis have worse executive function at school age. The majority of children with metopic synostosis have signs of ADHD. Later surgeries (greater than 12 months) may impact executive functioning, regardless of the degree of severity. Future research should aim at identifying the direct structural changes to the brain., Competing Interests: Declarations. Ethics approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was approved by the Yale University Institutional Review Board. (HIC# 0804003650). Consent to participate: All participants’ informed assent and informed consent were obtained by legal guardians. Consent for publication: Not applicable. Competing interests: The authors did not receive support from any organization for the submitted work. Disclaimer: Dr. Alperovich receives funding from CTSA Grant Number KL2 TR001862 from the National Center for Advancing Translational Science (NCATS), a component of the National Institutes of Health (NIH) and consults for Johnson & Johnson and LifeNet Health. No funding was received for this work. The manuscript contents are solely the responsibility of the authors and do not necessarily represent the official view of NIH., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: To evaluate the refractive outcome and strabismus at 5 years of age, in children operated for various types of non-syndromic craniosynostosis, and further analyse the refractive and strabismic development over time., Methods: Eighty-nine children, who had undergone operations for non-syndromic craniosynostosis, were examined at 5 years of age. These children also underwent ophthalmological examination preoperatively and up to 1 year after the operation. An age-matched control group including 32 healthy children was also recruited. Strabismus and eye motility were registered. Refraction was measured in cycloplegia., Results: There was a difference regarding the refractive outcome between the different types of craniosynostosis. Higher values of hypermetropia were found in the metopic craniosynostosis group on both eyes. In the unicoronal craniosynostosis group, high values of hypermetropia and a higher degree of astigmatism were found on the side contralateral to the craniosynostosis. Strabismus was found in 11/88 children of whom 10/11 had unicoronal craniosynostosis. A vertical deviation on the side ipsilateral to the fused suture was highly prevalent (6/10 cases). Ophthalmological dysfunctions were rare in children operated for sagittal craniosynostosis., Conclusion: Ocular manifestations such as strabismus, astigmatism and anisometropia were highly prevalent in children operated for unilateral coronal craniosynostosis. Children operated for metopic craniosynostosis had higher rates of hypermetropia. The screening and follow-up protocols need to be tailored with regard to the type of craniosynostosis., (© 2023 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.)

Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectual development and physical health. The only known cause for MSS is a mutation in the nuclear factor 1 X (NFIX) gene. This mutation affects neuronal development and protein transcription. Historically, most patients with MSS do not survive beyond 3 years of age. Reports of ocular findings are limited. We report a case of a 9-year-old MSS patient with progressive craniosynostosis, elevated intracranial pressure, and catastrophic ocular complications. A comprehensive PubMed literature search from 2018 to August 2022 updating a previous review of older literature produced 72 articles relating to MSS, which are reviewed., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Rickets results from defective bone mineralization, leading to skeletal deformities. Among those deformities, rickets has been associated with craniosynostosis, the premature closure of cranial sutures. Most of these patients have fusion of major sutures. Rarely, squamosal craniosynostosis in association with rickets has been described. Squamosal craniosynostosis is noted as lacking a definitive head abnormality and difficult visualization on standard imaging modalities, leading to poor recognition. Careful attention should be given to rickets patients to monitor for these unusual suture closures. Additionally, craniosynostosis could be a presenting feature of rickets, and further rickets evaluation of the patient is indicated., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: Strabismus in patients with craniosynostosis is common, but surgical correction of strabismus in these patients remains challenging. We report our findings in six patients (four of whom were Korean) with craniosynostosis who underwent strabismus surgery to specifically address V-pattern horizontal strabismus with moderate-to-severe inferior oblique (IO) overaction, using IO myectomy at a single tertiary hospital between 2005 and 2016., Methods: We recorded preoperative characteristics including sex, age, type of strabismus, versions grading, refractive error, and visual acuity. The grading of cyclorotation of horizontal rectus muscles by V-pattern categorized using coronal computed tomography imaging., Results: Of the six patients, exodeviation was found in four patients and vertical deviation in two patients in primary position. One patient had both horizontal and vertical strabismus. Available computed tomography imaging showed that V-patterns were category 1 (mild) in two patients, category 2 (moderate) in one patient, and category 3 (severe) in two patients. Complete success was defined as absence of IO overaction any more. Overall complete success rate of IO myectomy was 83.3%., Conclusions: IO myectomy appeared to have some benefits in V-pattern horizontal strabismus with moderate-to-severe IO overaction in patients with craniosynostosis.

Study Objectives: We examined the association between pulse transit time (PTT) and obstructive sleep apnea (OSA) in children with syndromic craniosynostosis (SCS), where OSA is a common problem and may cause cardiorespiratory disturbance., Methods: A retrospective study of children (age < 18 years) with SCS and moderate-to-severe OSA (ie, obstructive apnea-hypopnea index ≥ 5) or no OSA (obstructive apnea-hypopnea index < 1) who underwent overnight polysomnography. Children without SCS and normal polysomnography were included as controls. Reference intervals for PTT were computed by nonparametric bootstrap analysis. Based on reference intervals of controls, the sensitivity and specificity of PTT to detect OSA were determined. In a linear mixed model, the explanatory variables assessed were sex, age, sleep stage, and time after obstructive events., Results: In all 68 included children (19 with SCS with OSA, 30 with SCS without OSA, 19 controls), obstructive events occurred throughout all sleep stages, most prominently during rapid eye movement (REM) sleep and non-REM sleep stages N1 and N2, with evident PTT changes. The greatest reductions were observed 4-8 seconds after an event ( P < .05). In SCS with OSA, PTT reference intervals were lower during all sleep stages compared with SCS without OSA. The highest sensitivity was observed during N1 (55.5%), and the highest specificity during REM sleep (76.5%). The lowest PTT values were identified during N1., Conclusions: Obstructive events occur throughout all sleep stages with transient reductions in PTT. However, PTT as a variable for OSA detection is limited by its sensitivity and specificity., Citation: Yang S, van Twist E, van Heesch GGM, et al. Severe obstructive sleep apnea in children with syndromic craniosynostosis: analysis of pulse transit time. J Clin Sleep Med . 2024;20(8):1233-1240., (© 2024 American Academy of Sleep Medicine.)

It is not yet understood whether, and to what extent, craniosynostosis impacts the development of Attention Deficit/Hyperactivity Disorder (ADHD). This PRISMA compliant and PROSPERO pre-registered (ID: CRD42023458640) systematic review and meta-analysis examines the association of single-suture, non-syndromic craniosynostosis with ADHD and inattention/hyperactivity symptoms. Data from 17 independent studies ( N participants  = 2,389; M age  = 7.3 years) were analyzed, taking into consideration suture location, surgical status, age, and measures administered, where feasible. Few differences were found between cases and controls, but some studies reported high symptom levels. Additional research is required utilizing larger sample sizes and more comprehensive assessment of ADHD.

Study Objectives: Obstructive sleep apnea (OSA) is common in children with syndromic craniosynostosis (SC). The efficacy of the Le Fort III procedure in managing OSA in children with SC remains a subject of ongoing debate. This study aimed to explore the efficacy of Le Fort III procedure in the management of OSA in children with SC., Methods: A retrospective study was performed in children with SC and OSA diagnosed by polysomnography, which was defined as an apnea-hypopnea index ≥ 1 event/h. Patients meeting the inclusion criteria were those who underwent Le Fort III surgery and had both baseline polysomnography and follow-up sleep studies. Relevant clinical and demographic data were collected from all individuals who participated in the study., Results: Overall, 45 children with OSA and SC were identified, with a mean age of 6.8 ± 4.7 years. Twenty-five received the Le Fort III procedure and follow-up sleep studies. The Le Fort III procedure resulted in a significant reduction in apnea-hypopnea index (6.0 [2.6, 10.1] vs 37.6 [20.9, 48.0] events/h; P < .001). However, normalization of OSA was only achieved in 1 patient (4%)., Conclusions: The Le Fort III procedure is efficacious in the treatment of OSA in children with SC. However, despite the observed improvement, residual OSA following treatment remains common., Citation: Chang Y, Zhang W, Li M, et al. The effect of Le Fort III procedure in the treatment of obstructive sleep apnea in children with syndromic craniosynostosis. J Clin Sleep Med . 2024;20(8):1301-1311., (© 2024 American Academy of Sleep Medicine.)

Background: Craniosynostosis (CS), premature fusion of one or more cranial sutures, leads to abnormal skull development, impacting both facial esthetics and oral function. This study aimed to evaluate the specific orofacial and oral health characteristics, including masticatory performance, in Thai patients with CS., Methods: A comparative study was conducted with Thai CS patients aged 6-17 years and a control group of healthy individuals with similar age distribution. Assessments included craniofacial morphology, oral health status, and masticatory performance. Intergroup comparisons utilized appropriate statistical tests., Results: The study included 24 CS patients with a mean age of 10.11 ± 2.98 years and 30 controls. CS patients exhibited a significantly higher prevalence of various oral conditions compared to controls: cleft palate (20.8%), anterior open bite (41.7%), anterior crossbite (54.2%), posterior crossbite (50%), combined anterior-posterior crossbite (45.8%), dental crowding in both maxilla and mandible (50% and 45.8% respectively), congenitally missing teeth (50%), supernumerary teeth (12.5%), and eruption failure (54.2%). Furthermore, CS patients exhibited significantly higher caries prevalence and susceptibility, alongside poorer oral hygiene, compared to controls. Regarding jaw relationships, CS patients exhibited a significantly higher proportion of Angle's Class III malocclusion (50%) compared to the control group, where Class I malocclusion was predominant (50%). Masticatory performance, assessed using the two-color gum mixing ability test, showed significantly higher hue variance in CS patients (0.12 ± 0.07) compared to the control group, indicating reduced chewing performance., Conclusion: This study underscores the significant orofacial and oral health challenges faced by children with CS, including a high prevalence of malocclusions, dental anomalies, elevated caries experience, and compromised masticatory function. These findings emphasize the importance of tailored interventions and comprehensive oral healthcare strategies to address the unique needs of this population and improve their overall quality of life., (© 2024. The Author(s).)

Objective: Patients with normocephalic pansynostosis, who have a grossly normal head shape, are often overlooked early in life and present late with elevated intracranial pressure (ICP) requiring timely cranial vault expansion. This study evaluates the long-term clinical outcomes of patients with normocephalic pansynostosis., Methods: We retrospectively reviewed patients with a clinical and radiographic diagnosis of primary pansynostosis who underwent vault reconstruction between 2000 and 2023. Clinical and treatment course after craniofacial interventions was followed in patients with normocephaly to assess outcomes., Results: Thirty-five patients with primary pansynostosis were identified, of which eight (23.5%) had normocephaly and underwent initial vault expansion at a mean age of 5.0 ± 2.4 years. All eight patients (50.0% male) presented with symptoms of elevated ICP including headaches (50.0%), nausea and vomiting (50.0%), and developmental delay (62.5%) and/or signs of elevated ICP including papilledema (75.0%) and radiologic thumbprinting on head computed tomography scan (87.5%). Three of the four normocephalic patients who had over 7 years of postoperative follow-up developed subjective headaches, vision changes, or learning and behavioral issues in the long-term despite successful vault reconstruction., Conclusions: Our longitudinal experience with this rare but insidious entity demonstrates the importance of timely intervention and frequent postoperative monitoring, which are critical to limiting long-term neurological sequelae. Multidisciplinary care by craniofacial surgery, neurosurgery, ophthalmology, and neuropsychology with follow-up into adolescence are recommended to assess for possible recurrence of elevated ICP secondary to cranio-cerebral disproportion., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Elevated intracranial pressure (ICP) in sagittal craniosynostosis has a wide spectrum of reported incidence, and patterns are not well understood across infancy and childhood. Characterizing the natural history of ICP in this population may clarify risks for neurocognitive delay and inform treatment decisions., Methods: Infants and children with sagittal craniosynostosis and unaffected control subjects were prospectively evaluated with spectral-domain optical coherence tomography from 2014 to 2021. Elevated ICP was determined based on previously validated algorithms using retinal optical coherence tomography parameters., Results: Seventy-two patients with isolated sagittal craniosynostosis and 25 control subjects were evaluated. Overall, 31.9% ( n = 23) of patients with sagittal craniosynostosis had evidence of ICP greater than or equal to 15 mmHg, and 27.8% ( n = 20) of patients had ICP greater than or equal to 20 mmHg. Children with sagittal craniosynostosis younger than 6 months were more likely to have normal ICP (88.6% <15 mmHg; 91.4% <20 mmHg) than those aged between 6 and 12 months (54.5%, P = 0.013; 54.5%, P = 0.005) than those older than 12 months (46.2%, P < 0.001; 53.8%, P = 0.001). ICP was directly correlated with severity of scaphocephaly ( P = 0.009). No unaffected control subjects at any age exhibited retinal thickening suggestive of elevated ICP., Conclusion: Elevated ICP is rare in isolated sagittal craniosynostosis younger than 6 months, but it becomes significantly more common after 6 months of age, and may correlate with severity of scaphocephaly., Clinical Question/level of Evidence: Risk, II., (Copyright © 2023 by the American Society of Plastic Surgeons.)

Cloverleaf skull deformity or Kleeblattschadel syndrome is a severe condition where multiple cranial sutures are absent and prematurely fused, leading to a trilobate head shape. The remaining open sutures or fontanelles compensate for rapid brain expansion, while the constricted fused calvarium restricts brain growth and results in increased intracranial pressure. Recent data show that early posterior cranial and foramen magnum decompression positively affects infants with cloverleaf skulls. However, long-term sequelae are still rarely discussed. We hereby report a child who developed secondary metopic craniosynostosis after posterior cranial decompression, which required a front-orbital advancement and cranial remodelling as a definitive procedure., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Obstructive sleep apnea (OSA) is common in children with syndromic craniosynostosis (SC). However, objective data on the treatment of OSA in children with SC remain inadequate. This study aimed to explore the efficacy of continuous positive airway pressure (CPAP) in the management of OSA in children with SC., Methods: A retrospective study was performed in children with SC and OSA diagnosed by polysomnography (PSG), which was defined as an apnea hypopnea index (AHI) ≥ 1. Patients were included if they were treated with CPAP and had baseline PSG and follow-up sleep studies. Clinical and demographic data were collected from all enrolled subjects., Results: A total of 45 children with SC and OSA were identified, with an average age of 6.8 ± 4.7 years. Among them, 36 cases had moderate to severe OSA (22 with severe OSA) and received CPAP therapy followed by post-treatment sleep studies. Notably, there was a significant reduction in the AHI observed after CPAP treatment (3.0 [IQR: 1.7, 4.6] versus 38.6 [IQR: 18.2, 53.3] events/h; P < 0.001)., Conclusions: CPAP is effective and acceptable in treating severe OSA in children with SC., (© 2023. The Author(s).)

VACTERL association is diagnosed based on the non-random co-occurrence of at least 3 out of 6 congenital malformations. The prevalence is thought to be less than 1 in 10,000 to 1 in 40,000. There is no known link between VACTERL association and metopic synostosis in the literature. There were 122 operated cases of metopic synostosis at our institution from 1999 to 2023, with a 2.3:1 male-to-female ratio. The authors describe the co-occurrence of VACTERL association and metopic synostosis in 3 female patients with no identifiable genetic variants. Given that VACTERL association is a diagnosis of exclusion, other rare syndromes were considered but ultimately excluded. This suggests that the co-occurrence of VACTERL association and metopic synostosis is a potentially rare finding, and underlying pathogenic variants are yet to be identified., Competing Interests: The authors report no conflicts of interest., (Copyright © 2024 by Mutaz B. Habal, MD.)

Purpose: Idiopathic intracranial hypertension (IIH) is a rare condition in children, but if diagnosed needs to be promptly treated to avoid clinical sequalae. The main purpose of this paper was to test our clinical experience with a cohort of normocephalic children with craniosynostosis who do not present in the routine way to craniofacial services, due to the normal head shape and age, diagnosed with IIH., Methods: We retrospectively reviewed all children who were referred to neurosurgery from 2012 to 2022 for management of IIH on our prospectively kept database. We determined what treatments were offered and if there was an associated craniosynostosis., Results: In total, 19 children were identified with an average age at referral of 11.5 years (st dev 4.0 years) with 11 male and 8 female. The most common presenting symptoms and signs were papilloedema (18/19), headaches (15/19), visual deterioration (9/19), nausea and vomiting (7/19) and diplopia (4/19). Five out of 19 children (26.3%) had a sagittal suture fused that was not identified at the time of treatment and all children were normocephalic., Conclusion: There is a cohort of children with IIH who will have concomitant craniosynostosis and ideally would benefit from cranial vault expansion as primary surgery rather than cerebrospinal fluid (CSF) diversion. We suggest all children with IIH requiring neurosurgical intervention have cross-sectional imaging to look for occult craniosynostosis prior to intervention., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective(s): Previous literature has established a high prevalence of upper airway obstruction in children with craniofacial abnormalities. This study aims to perform quantitative airway volume measurements in patients with craniofacial abnormalities and compare them to age and sex-matched controls., Methods: We performed a retrospective review of the records of all children with craniofacial abnormalities who underwent head-and-neck computed tomography (CT) imaging at a single tertiary-care center between 1/1/13 and 12/31/20 using the ICD-10 codes Q75.1, Q75.4, and Q87.0. These patients were then matched by age and sex to patients with isolated craniosynostosis (Q75.0). CT scans were imported into Dolphin Imaging software, and airway volumes were measured for the nasal cavity, nasopharynx, oropharynx, and hypopharynx. The primary outcome was the total airway volume, defined as the sum of these measurements., Results: Thirty subjects with craniofacial syndromes were matched to 30 patients with isolated craniosynostosis (controls). In both groups, 18 subjects (60%) were male (p = 0.99). The average ages for syndromic patients and controls were 12.1 and 12.9 months, respectively (p = 0.84). On average, the total airway volumes of syndromic patients were 25% lower than those of controls (p = 0.02). Syndromic patients had 39% smaller nasal cavity volumes (p < 0.001) and 32% smaller nasopharyngeal volumes (p < 0.01). Significant volume differences were not observed for the oropharynx or hypopharynx., Conclusion: We present a unique technique to measure airway volumes in patients with craniofacial abnormalities. These findings will help practitioners to further understand the anatomy and pathophysiology of disturbed breathing in children with craniofacial syndromes., Level of Evidence: III Laryngoscope, 134:2915-2921, 2024., (© 2023 The American Laryngological, Rhinological and Otological Society, Inc.)

Background: Unicoronal craniosynostosis (UCS) is associated with orbital dysmorphologies that underlie ophthalmologic dysfunctions, such as strabismus. This study aimed to assess orbital dysmorphology in patients with UCS and how it changes after fronto-orbital distraction osteogenesis (FODO), and to analyze the features of new-onset strabismus., Methods: A retrospective analysis was conducted on 19 patients with UCS who underwent FODO between May of 2008 and November of 2020. Ophthalmologic records and computed tomographic scans were reviewed. Seven parameters, including width, height, volume, and four-direction orbital angles were evaluated in patients with UCS and compared with those of age-matched control subjects., Results: The superolateral angle and vertical angle of the ipsilateral orbit and the superomedial angle (SMA) of the contralateral orbit were more obtuse than those of the controls. Following FODO, the ipsilateral superolateral angle was decreased from 69.2 ± 5.4 degrees to 59.1 ± 4.2 degrees ( P = 0.001), and the contralateral SMA was decreased from 64.8 ± 5.8 degrees to 60.2 ± 6.0 degrees ( P = 0.003). Four of the 17 patients without strabismus in the preoperative period developed strabismus, and the horizontal type was the most common. Logistic regression analysis demonstrated a significant association between new-onset strabismus and SMA difference between both orbits (OR, 1.39; P = 0.041)., Conclusions: Orbital dysmorphology in the UCS is bilateral, and the orbital roofs are dysmorphic. The bilateral orbital roofs are lifted toward the fused coronal suture and can be improved after FODO. Horizontal strabismus, such as esotropia and exotropia, is common after FODO, and superomedial orbital roof asymmetry may play a role in its development., Clinical Question/level of Evidence: Therapeutic, IV., (Copyright © 2023 by the American Society of Plastic Surgeons.)

Head and neck positioning is a key element of craniofacial reconstructive surgery and can become challenging when intervention necessitates broad exposure of the calvarium. We present a case of craniosynostosis secondary to Apert's syndrome requiring anterior and posterior cranial vault access during surgical correction. A modified sphinx position was used that required significant neck extension. The patient had concurrent Chiari I malformation with brain stem compression so intraoperative neuromonitoring (IONM) was used to ensure that there were no negative effects on the neural elements with positioning. This highlights benefits of IONM in a setting not typically associated with its use., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

This study investigated how the fusion states of the cranial base is related to the degree of increased intracranial pressure (ICP) in patients with Crouzon syndrome. This retrospective cohort study enrolled patients who were diagnosed with Crouzon syndrome between May 2007 and April 2022. We categorized the patients into three groups: A, B, and C, according to the severity of increased ICP and the number of cranial vault remodeling procedures for corrective operation. The preoperative fusion states of the cranial base sutures/synchondroses were examined using facial bone computed tomography and compared between groups. Overall, 22 patients were included in Groups A, B, and C, including 8, 7, and 7 patients, respectively. The preoperative average grades of the total cranial base suture/synchondrosis fusion appeared to significantly increase with severity, except for the frontoethmoidal suture, which showed the opposite tendency. In the subgroup analysis, frontosphenoidal, sphenoparietal, sphenosquamosal, parietomastoid, and occipitomastoid suture and petro-occipital synchondrosis were associated with earlier fusion in the more severe group. Premature closure of the cranial base sutures/synchodroses seems to be associated with increased ICP severity in patients with Crouzon syndrome. Precise evaluation of minor sutures/synchondroses at the first visit might help build subsequent operative plans and predict disease prognosis., Competing Interests: Declaration of competing interest The authors declare that there are no conflicts of interest related to the current study., (Copyright © 2024 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Pott puffy tumor (PPT) is defined as a subperiosteal abscess of the anterior wall of the frontal sinus associated with underlying frontal osteomyelitis. PPT affects all age groups but occurs predominantly in adolescents. The potential etiologies include rhinosinusitis, a history of direct trauma to the forehead, odontogenic disease, intranasal drug abuse, diabetes, or other immunocompromised states. We introduce a case of a 6-year-old boy with a medical history of anterior cranial vault remodeling presenting with localized forehead swelling. Computed tomography imaging demonstrated mucosal thickening and a region of dehiscence in the wall of the frontal sinus; the presence of midline subperiosteal abscess was consistent with a diagnosis of PPT. Due to concerns for intracranial involvement, we utilized removal and replacement of the anterior wall of the frontal sinus, complete removal of sinus mucosa, and frontal sinus obliteration with bilateral peri-cranial flaps. To the best of our knowledge, this is the first case description of a PPT secondary to cranial vault reconstruction in a patient with metopic craniosynostosis., Competing Interests: The authors report no conflicts of interest., (Copyright © 2023 by Mutaz B. Habal, MD.)

Background: Craniofacial asymmetry associated with unicoronal synostosis (UCS) may persist into the teenage years despite surgery in infancy. This study evaluated outcomes following a nasal monobloc procedure by mobilizing a united nasomaxillary and bilateral medial orbital segment of bone (nasal monobloc) to perform corrective translational and rotational movement for secondary correction of residual nasal-orbital asymmetry associated with UCS., Methods: A retrospective review of all UCS patients treated with nasal monobloc at our institution was performed. Demographic information was recorded, and pre- and postoperative 2D imaging was used for morphometric outcome analysis. Outcomes and complications were tabulated., Results: The study included 14 patients (5 males, 9 females; mean age 14.6 years; range 9.6 to 22.5 years; mean follow-up 70.6 months range 12 to 132 months). Ancillary procedures (scar revision, forehead/orbital contouring, MEDPOR® augmentation) were performed in all patients at the time of the nasal monobloc. One patient underwent a repeat procedure 6 years later following technique modification. Additionally, another patient experienced late overgrowth of the frontal sinus with forehead asymmetry. The morphometric analysis demonstrated significant (p < 0.05) pre-op to post-op improvements in naso-orbital asymmetry, as demonstrated by horizontal orbital aperture ratio (0.88 vs 0.99), midline to exocanthion ratio (0.91 vs 0.98), orbital index ratio (1.15 vs 1.01), and midline discrepancy (7.1 degrees vs 2.7 degrees)., Conclusion: Nasal monobloc osteotomy provides a reasonable surgical treatment to improve both the nasal and orbital asymmetries associated with unicoronal synostosis, including frontal nasal deviation, basal nasal deviation, and orbital aperture asymmetry. It is important to note that confounding anatomic variables such as globe dystopia, strabismus, and scleral show may affect the perception of orbital symmetry., (Crown Copyright © 2024. Published by Elsevier Ltd. All rights reserved.)

Background: Brachycephalic dogs display sleep-disordered breathing (SDB). The risk factors for SDB remain unknown., Objectives: To identify risk factors for SDB. We hypothesized that brachycephaly, increasing severity of brachycephalic obstructive airway syndrome (BOAS), excess weight, and aging predispose to SDB., Animals: Sixty-three privately owned pet dogs were prospectively recruited: 28 brachycephalic and 35 normocephalic (mesaticephalic or dolicocephalic) dogs., Methods: Prospective observational cross-sectional study with convenience sampling. Recording with the neckband was done over 1 night at each dog's home. The primary outcome measure was the obstructive respiratory event index (OREI). Body condition score (BCS) was assessed, and BOAS severity was graded for brachycephalic dogs., Results: Brachycephaly was a significant risk factor for high OREI value (ratio of the geometric means 5.6, 95% confidence interval [CI] 3.2-9.9; P < .001) but aging was not (1.1, 95% CI 1.0-1.2; P = .2). Excess weight, defined as a BCS of over 5/9, (3.5, 95% CI 1.8-6.7; P < .001) was a significant risk factor. In brachycephalic dogs, BOAS-positive class (moderate or severe BOAS signs) was a significant risk factor (2.5, 95% CI 1.1-5.6; P = .03)., Conclusions and Clinical Importance: Brachycephaly decreases welfare in a multitude of ways, including disrupting sleep. Brachycephaly, increasing severity of BOAS and excess weight are risk factors for obstructive SDB., (© 2024 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.)

Background: Posterior synostotic plagiocephaly (PSP) impacts craniofacial skeleton. Study quantifies facial changes in children with PSP to investigate the impact of age and PSP severity at diagnosis on the facial dysmorphology., Material and Methods: High-resolution preoperative CT images of 22 infants with PSP were analyzed. They were divided according to the early or late age at time of diagnosis. Each group was further subdivided according to the severity of PSP evaluated by the cranial vault asymmetry index (CVAI): mild-moderate PSP (CVAI between 3 and 12%) and severe PSP (CVAI > 12%). Analysis of the facial complex was performed. Each group was compared with age-matched healthy subjects., Results: All children exhibited unilateral lambdoid suture synostosis. The "early" diagnosis group consisted of 7 children with mild-moderate PSP while the "late" diagnosis group of 15 children in which 6 children had mild-moderate and 9 children severe PSP. All children showed altered position of glenoid fossae and mandibular asymmetry characterized by reduced mandibular diagonal distance length on the affected side while the subgroup of children with severe PSP detected in "late" diagnosis group had also altered mandibular inclination and reduced midfacial depth on both sides., Conclusions: PSP causes cranial base dysmorphology which drives changes in facial complex growth; the severity of facial changes mainly depends on the severity of cranial vault dysmorphology detected by CVAI. Mandible reshapes early under the stress of altered biomechanical forces of the skull base while changes in the maxilla are secondary to the asymmetric growth of the mandible and occur only in severe cases., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Kabuki syndrome (KS) is characterized by growth impairment, psychomotor delay, congenital heart disease, and distinctive facial features. KMT2D and KDM6A have been identified as the causative genes of KS. Craniosynostosis (CS) has been reported in individuals with KS; however, its prevalence and clinical implications remain unclear. In this retrospective study, we investigated the occurrence of CS in individuals with genetically diagnosed KS and examined its clinical significance. Among 42 individuals with genetically diagnosed KS, 21 (50%) exhibited CS, with 10 individuals requiring cranioplasty. No significant differences were observed based on sex, causative gene, and molecular consequence among individuals with KS who exhibited CS. Both individuals who underwent evaluation with three-dimensional computed tomography (3DCT) and those who required surgery tended to exhibit cranial dysmorphology. Notably, in several individuals, CS was diagnosed before KS, suggesting that CS could be one of the clinical features by which clinicians can diagnose KS. This study highlights that CS is one of the noteworthy complications in KS, emphasizing the importance of monitoring cranial deformities in the health management of individuals with KS. The findings suggest that in individuals where CS is a concern, conducting 3DCT evaluations for CS and digital impressions are crucial., (© 2023 Wiley Periodicals LLC.)

Purpose: Papilloedema is recognised as an indicator of raised intracranial pressure, although there is a paucity of literature describing the utility of fundoscopy in screening for raised ICP in children with craniofacial synostosis, particularly young children. We sought to investigate the association of optic disc morphology with ICP in children, and to define the sensitivity and specificity of papilloedema as a clinical indicator of raised ICP and determine if age, or underlying conditions impact the findings., Method: Retrospective analysis of all patients undergoing ICP monitoring at a designated paediatric neurosurgical and craniofacial unit in the United Kingdom between October 2009 and October 2018. The fundoscopy findings and ICP monitoring data were analysed for 31 children with craniosynostosis and 29 children without craniosynostosis., Results: All children who had papilloedema had raised ICP confirmed with monitoring. Across the 60-patient cohort, confirmed papilloedema on fundoscopy had Positive Predictive Value (PPV) of 1.00, Negative Predictive Value (NPV) of 0.64 with sensitivity 48% and specificity 100% for the presence of raised ICP (p =  < 0.0001). In the craniosynostosis group, PPV was 1.00, NPV was 0.39, sensitivity 48% and specificity 100% (p =  < 0.03). There is no correlation between severity of optic disc swelling using Frisen grading and elevation of ICP. Age did not affect the presence of papilloedema in those with raised ICP., Conclusion: The presence of papilloedema is a strong indicator of raised ICP in a child, regardless of underlying aetiology. Detailed fundoscopy can prevent the need for further investigations including imaging-related radiation and invasive CSF pressure monitoring., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: To better characterize the correlation of bony orbital dysmorphology with strabismus in craniosynostosis., Methods: The medical records of patients with craniosynostosis with and without strabismus seen at Rady Children's Hospital (San Diego, CA) from March 2020 to January 2022 were reviewed retrospectively in this masked, case-control study. Computed tomography scans of the orbits were analyzed to obtain dimensions of the orbital entrance and orbital cone. Primary outcome was correlation of strabismus with orbital measurements., Results: A total of 30 orbits from 15 patients with strabismus and 15 controls were included. Craniofacial disorders included in the study were nonsyndromic craniosynostosis (63%), Crouzon syndrome (13%), Apert syndrome (13%), and Pfeiffer syndrome (10%). Orbital index (height:width ratio) (P = 0.01) and medial orbital wall angle (P = 0.04) were found to differ significantly between the strabismus and control groups., Conclusions: In our small cohort, bony orbital dimensions, including the ratio of orbital height to width and bowing of the medial orbital wall, were associated with strabismus in craniosynostosis., (Published by Elsevier Inc.)

Introduction: The association between trigonocephaly and Sylvian fissure arachnoid cysts (ACs) has been occasionally reported in the literature. However, the real incidence of this association and its clinical relevance remain unknown., Methods: The authors collected and retrospectively reviewed all clinical charts and CT scans of patients surgically treated for trigonocephaly at the Pediatric Neurosurgical Department of Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS from January 2014 to June 2023., Results: During the study period, 136 patients with trigonocephaly underwent surgery. Analysis of the clinical charts revealed that in 39.7% of the cases (54/136), preoperative CT scan depicted the presence of a Sylvian fissure AC. Of these, AC was bilateral in 23 cases and unilateral in the remaining 31. All unilateral ACs were on the left side. The ACs were classified as Galassi grade I in 52 cases (96.3%) and Galassi grade II in 2 cases (3.7%). Interestingly, in 1 case we reported a Galassi grade I AC enlargement during follow-up, thereby necessitating surgical fenestration., Conclusion: ACs and trigonocephaly are well-known conditions for pediatric neurosurgeons; however, their association is poorly defined. Despite the lack of reports on the incidence and clinical significance of this association, it is worth knowing that radiological follow-up is essential in monitoring AC evolution., (© 2024 The Author(s). Published by S. Karger AG, Basel.)

Craniosynostosis, characterized by premature fusion of one or more cranial sutures, results in a distorted skull shape. Only three studies have assessed facial asymmetry manually in unicoronal synostosis patients. It is therefore important to understand how uni- and bicoronal synostosis affect facial asymmetry with a minimum risk of human bias. An automated algorithm was developed to quantify facial asymmetry from three-dimensional images, generating a mean facial asymmetry (MFA) value in millimeters to reflect the degree of asymmetry. The framework was applied to analyze postoperative 3D images of syndromic patients (N = 35) diagnosed with Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis with respect to MFA values from a healthy control group (N = 89). Patients demonstrated substantially higher MFA values than controls: Muenke syndrome (unicoronal 1.74 ± 0.40 mm, bicoronal 0.77 ± 0.21 mm), Saethre-Chotzen syndrome (unicoronal 1.15 ± 0.20 mm, bicoronal 0.69 ± 0.16 mm), and TCF12-related craniosynostosis (unicoronal 1.40 ± 0.51 mm, bicoronal 0.66 ± 0.05 mm), compared with controls (0.49 ± 0.12 mm). Longitudinal analysis identified an increasing MFA trend in unicoronal synostosis patients. Our study revealed higher MFA in syndromic patients with uni- and bicoronal synostosis compared with controls, with the most pronounced MFA in Muenke syndrome patients with unilateral synostosis. Bicoronal synostosis patients demonstrated higher facial asymmetry than expected given the condition's symmetrical presentation., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Introduction: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in the TCF4 transition factor. The aim of this article was to report the case of two twin infants diagnosed with PTHS, confirmed by the identification of a heterozygous pathogenic variant in the TCF4 gene through DNA extracted from a buccal swab., Case Presentation: Both infants presented with craniofacial asymmetry with a metopic crest and cranial deformity. During the diagnostic investigation, computed tomography with three-dimensional reconstruction of the skull showed premature fusion of the left coronal and metopic sutures in both twins. They underwent craniofacial reconstruction at the 9th month of age using a combination of techniques. The postoperative outcomes were satisfactory in both cases., Conclusion: To the best of our knowledge, this is the first case report to describe the occurrence of complex craniosynostosis (CCS) in children with PTHS. Further studies are needed to determine whether the co-occurrence of PTHS and CCS described here indicates an association or is explained by chance., (© 2024 The Author(s). Published by S. Karger AG, Basel.)

Introduction: Children with syndromic craniosynostosis are known to have a high propensity for associated airway abnormalities. However, this has not been investigated using a large-scale national database., Methods: For this retrospective cohort study, the 2016 Healthcare Cost and Utilization Project Kid's Inpatient Database was queried for craniosynostosis patients. Data on demographics, airway diagnoses, and comorbidities were analyzed., Results: Four thousand nine hundred fourteen children with craniosynostosis with a mean age of 1.7±3.6 years were identified. Of these, 51% were female and 136 children had an associated syndrome. Choanal atresia was present in 31% of patients with an associated syndrome versus 2.5% without. Syndromic patients are 4.59 times more likely (95% CI 2.65-7.94) to have airway anomalies than nonsyndromic patients. After age and sex adjustment, craniosynostosis patients have higher likelihoods of presenting with other anomalies, with syndromic having higher incidences: 5.23 times (95% CI 2.63-10.39) more likely to have laryngomalacia, 18.30 times (95% CI 3.27-102.36) more likely to have tracheal stenosis, and 4.58 times (95% CI 1.36- 15.43) more likely to have tracheomalacia. Incidence of tracheostomy was 5.84 times (95% CI 3.77-9.04) higher in syndromic patients with craniosynostosis. Tracheostomy rates were 28.4% and 4.6% in craniosynostosis patients with and without associated syndrome, respectively., Conclusion: Syndromic craniosynostosis patients had significantly higher incidences of choanal atresia and other airway anomalies. Given a high incidence of airway anomalies, syndromic craniosynostosis patients likely warrant routine airway evaluation. Providers should also be vigilant about airway evaluation in patients with nonsyndromic craniosynostosis when aerodigestive symptoms arise., Competing Interests: The authors report no conflicts of interest., (Copyright © 2023 by Mutaz B. Habal, MD.)

Hydrocephalus is variously associated with syndromic craniosynostosis (CS), while it is randomly encountered in nonsyndromic CS. But actually, the ventriculomegaly in CS is less described. In this study, the authors aim to establish whether ventriculomegaly is common in patients with CS, in both syndromic and nonsyndromic. Retrospective measurements of Evans index (EI) were taken from thin-section computed tomography scans of 169 preoperative CS patients to assess cerebral ventricular volume. EI >0.3 indicates ventricular enlargement. A total of 169 CS patients who underwent computed tomography scan from February 2018 to December 2021 were retrospectively evaluated, including 114 males and 55 females. The average age at diagnosis was 16 months (range: 1-103 mo). Among them, 37 with syndromic CS, including 17 ventricular megaly patients, had an EI >0.3 (46.0%), and 4 of them had intracranial hypertension and needed ventriculoperitoneal shunt treatment before cranial vault remolding. One hundred and thirty-two had nonsyndromic CS (100 single-suture CS, 32 multisuture CS), and 26 of them had an EI of 0.3 or greater (19.7%). Ventrocular megaly is common among patients with CS. Early craniotomy may stabilize ventricular dilation., Competing Interests: The authors report no conflicts of interest., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of Mutaz B. Habal, MD.)

Objective: The aim of this study was to determine whether patients with syndromic craniosynostosis (SCS) are at increased risk for epilepsy relative to patients with nonsyndromic craniosynostosis (NSCS)., Methods: A retrospective cohort study was completed using the Kids' Inpatient Database (KID). All patients diagnosed with craniosynostosis (CS) were included. The primary predictor variable was study grouping (SCS vs. NSCS). The primary outcome variable was a diagnosis of epilepsy. Descriptive statistics, univariate analyses and multivariate logistic regression were performed to identify independent risk factors for epilepsy., Results: The final study sample included a total of 10,089 patients (mean age, 1.78 years ± 3.70; 37.7% female). 9278 patients (92.0%) had NSCS, and the remaining 811 patients (8.0%) had SCS. A total of 577 patients (5.7%) had epilepsy. Not controlling for other variables, patients with SCS were at increased risk for epilepsy relative to patients with NSCS (OR 2.1, P < 0.001). After controlling for all significant variables, patients with SCS were no longer at increased risk for epilepsy relative to patients with NSCS (OR 0.73, P = 0.063). Hydrocephalus, Chiari malformation (CM), obstructive sleep apnea (OSA), atrial septal defect (ASD), gastro-esophageal reflux disease (GERD) were all independent risk factors (P < 0.05) for epilepsy., Conclusions: Syndromic craniosynostosis (SCS) in itself is not a risk factor for epilepsy relative to NSCS. The greater prevalence of hydrocephalus, CM, OSA, ASD, and GERD, all of which were risk factors for epilepsy, in patients with SCS relative to patients with NSCS likely explains the greater prevalence of epilepsy in SCS relative to NSCS., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Purpose: Craniosynostosis can lead to symptoms resulting from cranial compliance (CC) changes and intracranial hypertension (ICH), which may cause cognitive and visual impairment. Non-invasive methods have emerged, including a new device that captures and processes the intracranial pressure waveform (ICPw) by the skull's oscillation. The present study evaluates ICPw obtained non-invasively (NIICPw) in patients with craniosynostosis., Methods: This prospective, cross-sectional, and descriptive study was conducted at a single center. Patients diagnosed with craniosynostosis and who provided informed consent were included. A US Food and Drug Administration-approved mechanical extensometer device (Brain4Care Corp.) was used to obtain a NIICPw. An ophthalmologist did a point-of-care retinography to check the optic nerve papilla. The P2/P1 ratio and the morphology of the NIICPw were analyzed, as well as the retinography., Results: Thirty-five patients were evaluated, and 42 registers were obtained because seven were assessed before and after the surgery. The two patients who presented papilledema had low CC (NIICPw shape Class 3 or 4). There was a significant association between NIICPw and papilledema., Conclusion: The ratio P2/P1 and the NIICPw morphology provided by a non-invasive monitor are related to CC changes before papilledema occurs. This is especially useful in patients with craniosynostosis because invasive ICP monitoring is not always feasible. Further studies are warranted to establish the clinical utility of NIICPw in patients with craniosynostosis., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: To assess the use of adrenaline (0.00198%) in a bilateral maxillary nerve block to reduce intraoperative hemorrhage in dogs undergoing staphylectomy for the treatment of brachycephalic obstructive airway syndrome (BOAS)., Study Design: Prospective, randomized, double-blinded controlled study., Sample Population: A total of 32 client owned, clinically affected dogs undergoing a cut and sew sharp staphylectomy for treatment of BOAS. A total of 16 dogs randomly assigned to adrenaline (A) group and 16 to no-adrenaline (NA) group., Methods: A bilateral maxillary nerve block was performed in all dogs prior to staphylectomy using lidocaine alone (group NA) or a combination of lidocaine and adrenaline (group A). Total hemorrhage was measured by weighing cotton-tipped applicators and swabs used on precision scales. In addition, a semi-quantitative hemorrhage score (1-5) was determined. Dogs were monitored for intraoperative hemodynamic stability during the procedure., Results: Total hemorrhage was significantly (p = .013) lower in group A compared with group NA. The median semi-quantitative hemorrhage score was significantly lower for group A (p = .029) compared with group NA. No significant adverse effects were noted due to adrenaline usage., Conclusion: This study demonstrated that the use of adrenaline in a bilateral maxillary nerve block results in significantly lower intraoperative hemorrhage during cut and sew sharp staphylectomy and appeared safe to use., Clinical Significance: Potential clinical advantages include improved visualization, prevention of unnecessary blood loss and reduction in risk of blood aspiration., (© 2023 The Authors. Veterinary Surgery published by Wiley Periodicals LLC on behalf of American College of Veterinary Surgeons.)

Objective: To compare the prevalence of pre-, intra-, and postoperative variables and complications associated with staphylectomy (S) and folded flap palatoplasty (FFP)., Study Design: Retrospective study., Sample Population: Client-owned dogs (n = 124)., Methods: Medical records of S and FFP dogs from a veterinary teaching hospital were reviewed between July 2012 and December 2019. Signalment, clinical pre-, intra-, and postoperative data were collected and reviewed. Median (interquartile range) was reported., Results: A total of 124 dogs among 14 breeds underwent surgical treatment for an elongated soft palate with either a S (n = 64) or FFP (60). FFP dogs without concurrent non-airway procedures were associated with longer duration of surgery (p = .02; n = 63; S, median = 51 min [34-85]; FFP, median = 75 min [56.25-94.5]) and anesthesia (p = .02; n = 63; S, median = 80 min [66-125]; FFP, median = 111 min [91-140.8]). Neither soft palate surgery was associated with the occurrence of anesthetic complications (p = .30; 99/120; S, 49; FFP, 50), postoperative regurgitation (p = .18; 27/124; S, 17; FFP, 10), or with hospitalization duration (p = .94; n = 124; S, median = 1 day [1]; FFP, median = 1 [1]). Postoperative aspiration pneumonia (9/124; S, 4; FFP, 5) and major complications were rare (5/124; S, 3; FFP, 2)., Conclusion: S and FFP had similar anesthetic and perioperative complications, although FFP dogs had longer anesthetic and operative times., Clinical Significance: Although FFP took longer, no other clinically significant differences were appreciated between S and FFP procedures. Because of limitations inherent in study design, surgeons should continue to use clinical judgment when deciding on a procedure., (© 2023 The American College of Veterinary Surgeons.)

Purpose: Understanding the complication profile of craniosynostosis surgery is important, yet little is known about complication co-occurrence in syndromic children after multi-suture craniosynostosis surgery. We examined concurrent perioperative complications and predictive factors in this population., Methods: In this retrospective cohort study, children with syndromic diagnoses and multi-suture involvement who underwent craniosynostosis surgery in 2012-2020 were identified from the National Surgical Quality Improvement Program-Pediatric database. The primary outcome was concurrent complications; factors associated with concurrent complications were identified. Correlations between complications and patient outcomes were assessed., Results: Among 5,848 children identified, 161 children (2.75%) had concurrent complications: 129 (2.21%) experienced two complications and 32 (0.55%) experienced ≥ 3. The most frequent complication was bleeding/transfusion (69.53%). The most common concurrent complications were transfusion/superficial infection (27.95%) and transfusion/deep incisional infection (13.04%) or transfusion/sepsis (13.04%). Two cardiac factors (major cardiac risk factors (odds ratio (OR) 3.50 [1.92-6.38]) and previous cardiac surgery (OR 4.87 [2.36-10.04])), two pulmonary factors (preoperative ventilator dependence (OR 3.27 [1.16-9.21]) and structural pulmonary/airway abnormalities (OR 2.89 [2.05-4.08])), and preoperative nutritional support (OR 4.05 [2.34-7.01]) were independently associated with concurrent complications. Children who received blood transfusion had higher odds of deep surgical site infection (OR 4.62 [1.08-19.73]; p = 0.04)., Conclusions: Our results indicate that several cardiac and pulmonary risk factors, along with preoperative nutritional support, were independently associated with concurrent complications but procedural factors were not. This information can help inform presurgical counseling and preoperative risk stratification in this population., (© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)

Objective: Foramen magnum(FM) stenosis can be responsible for acute and chronic damage to the cervicomedullary junction in children with achondroplasia. The bony anatomy and patterns of suture fusion of the FM in this context are incompletely understood, yet becoming increasingly important in the light of novel medical therapies for achondroplasia. The objective of this study was to describe and quantify bony anatomy and fusion patterns of FM stenosis in patients with achondroplasia using CT scans, comparing them to age-matched controls and other FGFR3 craniosynostosis patients., Methods: Patients with achondroplasia and severe FM stenosis, classified as achondroplasia foramen magnum score(AFMS) grades 3 and 4, were identified from a departmental operative database. All had pre-operative CT scans of the craniocervical junction. Measurements obtained comprised sagittal diameter (SD), transverse diameter (TD), foramen magnum area, and opisthion thickness. Anterior and posterior interoccipital synchondroses (AIOS and PIOS) were graded by the extent of fusion. These measurements were then compared with CT scans from 3 age-matched groups: the normal control group, children with Muenke syndrome, and children with Crouzon syndrome with acanthosis nigricans (CSAN)., Results: CT scans were reviewed in 23 cases of patients with achondroplasia, 23 normal controls, 20 Muenke, and 15 CSAN. Children with achondroplasia had significantly smaller sagittal diameter (mean 16.2 ± 2.4 mm) compared to other groups (control 31.7 ± 2.4 mm, p < 0.0001; Muenke 31.7 ± 3.5 mm, p < 0.0001; and CSAN 23.1 ± 3.4 mm, p < 0.0001) and transverse diameters (mean 14.3 ± 1.8 mm) compared with other groups (control 26.5 ± 3.2 mm, p < 0.0001; Muenke 24.1 ± 2.6 mm, p < 0.0001; CSAN 19.1 ± 2.6 mm, p < 0.0001). This translated into a surface area which was 3.4 times smaller in the achondroplasia group compared with the control group. The median grade of the AIOS fusion achondroplasia group was 3.0 (IQR 3.0-5.0), which was significantly higher compared with the control group (1.0, IQR 1.0-1.0, p < 0.0001), Muenke group (1.0, IQR 1.0-1.0, p < 0.0001), and CSAN (2.0, IQR 1.0-2.0, p < 0.0002). Median PIOS fusion grade was also highest in the achondroplasia group (5.0, IQR 4.0-5.0) compared with control (1.0, IQR 1.0-1.0, p < 0.0001), Muenke (2.5, IQR 1.3-3.0, p < 0.0001), and CSAN (4.0, IQR 4.0-4.0, p = 0.2). Distinct bony opisthion spurs projecting into the foramen magnum were seen in achondroplasia patients but not others, resulting in characteristic crescent and cloverleaf shapes., Conclusion: Patients with AFMS stages 3 and 4 have significantly reduced FM diameters, with surface area 3.4 times smaller than age-matched controls. This is associated with premature fusion of the AIOS and PIOS in comparison with controls and other FGFR3-related conditions. The presence of thickened opisthion bony spurs contributes to stenosis in achondroplasia. Understanding and quantifying bony changes at the FM of patients with achondroplasia will be important in the future quantitative evaluation of emerging medical therapies., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: The incidence of metabolic bone diseases in pediatric neurosurgical patients is rare. We examined our institutional experience of metabolic bone diseases along with a review of the literature in an effort to understand management for this rare entity., Methods: Retrospective review of the electronic medical record database was performed to identify patients with primary metabolic bone disorders who underwent craniosynostosis surgery between 2011 and 2022 at a quaternary referral pediatric hospital. Literature review was conducted for primary metabolic bone disorders associated with craniosynostosis., Results: Ten patients were identified, 6 of whom were male. The most common bone disorders were hypophosphatemic rickets (n = 2) and pseudohypoparathyroidism (n = 2). The median age at diagnosis of metabolic bone disorder was 2.02 years (IQR: 0.11-4.26), 2.52 years (IQR: 1.24-3.14) at craniosynostosis diagnosis, and 2.65 years (IQR: 0.91-3.58) at the time of surgery. Sagittal suture was most commonly fused (n = 4), followed by multi-suture craniosynostosis (n = 3). Other imaging findings included Chiari (n = 1), hydrocephalus (n = 1), and concurrent Chiari and hydrocephalus (n = 1). All patients underwent surgery for craniosynostosis, with the most common operation being bifronto-orbital advancement (n = 4). A total of 5 patients underwent reoperation, 3 of which were planned second-stage surgeries and 2 of whom had craniosynostosis recurrence., Conclusions: We advocate screening for suture abnormalities in children with primary metabolic bone disorders. While cranial vault remodeling is not associated with a high rate of postoperative complications in this patient cohort, craniosynostosis recurrences may occur, and parental counseling is recommended., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)