VACTERL Association in Patients With Metopic Synostosis: Is There a Link?

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.

Secondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity.

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.

Undiagnosed sagittal synostosis as cause of "idiopathic" intracranial hypertension.

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.

A novel case of Horner syndrome as the presenting sign of craniosynostosis.

Craniosynostosis, the premature fusion of cranial sutures, can lead to distortion of skull shape and neurological dysfunction. We present a novel case of Horner syndrome as the presenting sign of craniosynostosis associated with elevated intracranial pressure. A 10-year-old boy presenting for strabismus follow-up was noted to have new-onset anisocoria, greater in the dark, and mild right upper eyelid ptosis. Apraclonidine testing was concerning for Horner syndrome. Neuroimaging demonstrated previously undiagnosed sagittal craniosynostosis with tortuous optic nerves and large cerebrospinal fluid spaces around both optic nerves. The patient was referred to neurosurgery and underwent a lumbar puncture with an opening pressure of 44 cm H2O. He underwent surgical cranial expansion. By six months postoperatively, his anisocoria had resolved.

Evaluation of risk factors for sleep-disordered breathing in dogs.

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.

Nasal monobloc osteotomy for correction of late nasal and orbital asymmetry of unicoronal synostosis: A morphometric and outcomes study.

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.

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

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

The influence of orbital architecture on strabismus in craniosynostosis.

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.

Computed tomography quantitative analysis of cranial vault dysmorphology and severity of facial complex changes in posterior synostotic plagiocephaly patients.

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.

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

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.

Are Patients with Syndromic Craniosynostosis at Greater Risk for Epilepsy than Patients with Nonsyndromic Craniosynostosis?

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.

Impact of One-Piece Fronto-Orbital Distraction Osteogenesis on Orbital Morphology and Strabismus Development in Unilateral Craniosynostosis.

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.

Analysis of intracranial pressure waveform using a non-invasive method in individuals with craniosynostosis.

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.

Complications and outcome following staphylectomy and folded flap palatoplasty in dogs with brachycephalic obstructive airway syndrome.

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.

Frequency and predictors of concurrent complications in multi-suture release for syndromic craniosynostosis.

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.

Papilloedema: a highly specific predictor of raised intracranial pressure in a complex neurosurgical paediatric cohort.

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.

Evaluation of the addition of adrenaline in a bilateral maxillary nerve block to reduce hemorrhage in dogs undergoing sharp staphylectomy for brachycephalic obstructive airway syndrome. A prospective, randomized study.

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.

Incidence of Airway Abnormalities in Children With Craniosynostosis.

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.

Incidence of Ventriculomegaly in Patients With Craniosynostosis.

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.

Automated three-dimensional analysis of facial asymmetry in patients with syndromic coronal synostosis: A retrospective study.

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.