Unilateral Coronal Synostosis Research Articles

A study of the cerebral venous drainage patterns in craniosynostosis: nonsyndromic cases and the induction effect of Virchow's law on venous sinuses.

Surgical intervention is commonly necessary for craniosynostosis. One of the preoperative concerns revolves around the cerebral venous drainage pattern and its potential involvement during surgery. Although there have been reports regarding venous drainage patterns in syndromic craniosynostosis, studies of nonsyndromic cases have been rare. In the present study, the aim was to study venous drainage patterns in nonsyndromic craniosynostosis. Nonsyndromic cases at a single institute were retrospectively reviewed, and cerebral venous drainage in the posterior (transverse sinus [TS]) and anterior (cavernous sinus [CS] and para-CS [ParaCS]) venous routes was systematically investigated. The occipital sinus (OS) and emissary veins were also evaluated. A total of 89 nonsyndromic cases were evaluated, including 12 right coronal synostosis (RCS), 14 left coronal synostosis (LCS), 15 bilateral coronal synostosis (BCS), 36 sagittal synostosis, 6 metopic synostosis, and 6 combined metopic-sagittal synostosis cases. All venous studies were performed using MR venography. There was a significant difference among all six groups in TS dominance (p = 0.0108). In unilateral coronal synostosis (UCS; including RCS and LCS) cases, 76.9% had TS dominance on the opposite side of the synostotic suture (20 of 26 UCS, including 10 of 12 RCS and 10 of 14 LCS). There was a significant difference in the incidence of OS, with the highest incidence observed in the BCS group (33.3%, p = 0.027). CS/ParaCS venous drainage was observed in 94.4% of cases on the right side and 95.5% on the left side, showing no significant difference among the groups on both sides. No visible emissary vein was observed in any of the groups. A significantly higher predominance of left TS was found in RCS cases, in contrast with the typical right-side predominance seen in the normal population. In addition, the majority of UCS cases exhibited TS dominance on the opposite side of the synostotic suture. Furthermore, the present results showed a significant difference in the prevalence of OS, which was predominantly observed in BCS cases. These findings could be explained by the induction effect on venous sinuses by the compensatory growth of the skull according to Virchow's law, suggesting that synostotic sutures induce compensatory skull expansion in regions farthest (diagonally) from the affected sutures, thereby enlarging nearby venous sinuses.

Postoperative Orbital Morphology Observations Following Fronto-Orbital Advancement and Cranial Vault Remodeling in Patients With Unilateral Coronal Synostosis.

Observations of preoperative and postoperative orbital morphology following fronto-orbital advancement and cranial vault remodeling (FOA and CVR) in patients with unilateral coronal synostosis (UCS). This retrospective cohort included patients diagnosed with unilateral coronal synostosis and treated with fronto-orbital advancement and cranial vault remodeling at the Children's Hospital of Fudan University. The orbital height, orbital width, and orbital volume were obtained from head 3-dimensional computed tomography of preoperation and postoperation. The DICOM data of CT were then imported into mimics research version 21.0. The authors measured OH and OW according to the bony landmarks, then reset the parameters of the soft tissue window, and conducted a 3-dimensional reconstruction of the orbital soft tissue to get OV. The preoperative and postoperative measurements of the intact side were compared with the affected side, respectively. Statistical analysis was performed using SPSS version 25.0 (Ρ=0.05). Twelve patients with UCS (5 male, 7 female) meeting criteria were included in the study. There were 4 patients with UCS on the left and 8 on the right. The average age at initial surgery was 19.50 months. Before the operation, the data of the intact side and the affected side were compared, respectively, and the difference was found to be significant in OH (Ρ=0.005) and OW (Ρ=0.005), while the OV (Ρ=0.106) was not statistically significant. After procedures of FOA and CVR, the data of the intact side and the affected side were compared, respectively, the significant difference was found in OV (Ρ=0.002), while not in OH (Ρ=0.060) or OW (Ρ=0.066). After undergoing the operation of FOA and CVR, the OH and OW of the ipsilateral and contralateral sides of patients with UCS were basically symmetrical, while the volume of the affected orbit was still relatively smaller.

Concurrent Craniosynostosis and Positional Plagiocephaly: A Scoping Review

Background: Craniosynostosis and positional plagiocephaly (PP) both lead to deformities of the infant skull. In some cases, patients may present with concurrent craniosynostosis and PP. The forces exerted on the skull by both conditions can complicate and delay correct diagnosis and require adjustments to surgical planning. Objective: The purpose of this scoping review was to identify and analyze the existing peer-reviewed literature covering the diagnosis and treatment of concurrent craniosynostosis and PP. Design: In accordance with PRISMA guidelines, PubMed, MEDLINE, and EMBASE were searched for articles discussing concurrent diagnoses of craniosynostosis and PP. Results: Out of 633 articles discovered, 7 met inclusion criteria and discussed a cumulative total of 10 patients. The average age of referral to a craniofacial team was 17 ± 22.2 months. The most common reason for referral was craniofacial asymmetry (90%, n = 9). 40% presented with unilateral coronal synostosis (n = 4), 40% with lambdoid synostosis (n = 4), 10% with sagittal synostosis (n = 1), and 10% with metopic synostosis (n = 1). The most commonly reported clinical features were occipital flattening (90%, n = 9), ear displacement (80%, n = 8), and frontal bossing (30%, n = 3). Delayed or incorrect initial diagnosis was noted in 70% (n = 7) of patients. CT scan was the most commonly employed diagnostic tool, utilized in 100% of patients. 70% of patients (n = 7) underwent surgery at an average age of 6.75 ± 3 months. Two studies, accounting for 2 patients reported, noted altering their surgical technique to account for PP in addition to the synostotic suture. Conclusions: Coincident craniosynostosis and PP can pose a complicated diagnostic and therapeutic challenge. An in-depth understanding of the most reliable physical exam findings associated with each type of craniosynostosis combined with PP will facilitate accurate diagnosis. Consideration of the concurrent forces on the skull created by craniosynostosis and PP aid in the design of a tailored surgical plan.

Discussion: Improved Facial and Skull-Base Symmetry following Osteotomy and Distraction of Unilateral Coronal Synostosis.

Discussion: Improved Facial and Skull-Base Symmetry following Osteotomy and Distraction of Unilateral Coronal Synostosis.

Intracranial Pressure, Autoregulation, and Cerebral Perfusion in Infants With Nonsyndromic Craniosynostosis at the Time of Surgical Correction

BACKGROUND AND OBJECTIVE: Although an increased intracranial pressure (ICP) is a known problem in children with syndromic craniosynostosis, it remains unclear whether elevated ICP and impaired cerebral perfusion exist in nonsyndromic synostosis and should be defined as targets of primary treatment. This study aimed to investigate ICP, cerebral autoregulation (CAR), and brain perfusion in infants with nonsyndromic craniosynostosis at first surgical intervention. METHODS: Forty-three infants were prospectively included. The patients underwent perioperative measurement of mean arterial blood pressure, ICP, and brain perfusion before and after cranial vault decompression. Physiological parameters with possible influences on ICP and autoregulation/brain perfusion were standardized for age. CAR was assessed by the pressure reactivity index (PRx), calculated using the mean arterial blood pressure and ICP. RESULTS: Biparietal decompression was performed in 29 infants with sagittal synostosis (mean age, 6.1 ± 1.3 months). Fronto-orbital advancement was performed in 10 and 4 infants with metopic and unilateral coronal synostosis, respectively (mean age, 11.6 ± 2.1 months). An elevated ICP (>15 mm Hg) was found in 20 of 26 sagittal (mean, 21.7 ± 4.4 mm Hg), 2 of 8 metopic (mean, 17.1 ± 0.4 mm Hg), and 2 of 4 unilateral coronal synostosis cases (mean, 18.9 ± 2.5 mm Hg). Initial ICP was higher in sagittal synostosis than in metopic/coronal synostosis (P = .002). The postdecompression ICP was significantly reduced in sagittal synostosis cases (P < .001). The relative cerebral blood flow and blood flow velocity significantly increased after decompression. Impaired CAR was found in infants with a mean ICP >12 mm Hg (PRx, 0.26 ± 0.32), as compared with those with a mean ICP ≤ 12 mm Hg (PRx, −0.37 ± 0.07, P = .001). CONCLUSION: Contrary to common belief, an elevated ICP and significantly impaired CAR can exist early in single suture synostosis, particularly sagittal synostosis. Because an influence of raised ICP on long-term cognitive development is known in other diseases, we suggest that preventing increased ICP during the phase of maximal brain development may be a goal for decompressive surgery, at least for sagittal synostosis cases.

Bilateral fronto-orbital advancement combined with cranial vault release using a free-floating bone flap technique for nonsyndromic unilateral coronal synostosis.

The goals of operative treatment for unilateral coronal synostosis (UCS) are to improve appearance and allow unrestricted brain growth. However, for severe unilateral premature closure of the coronal suture, existing methods do not address the compression of the brain or expand the volume of the skull cavity. We report our retrospective experience with bilateral fronto-orbital advancement combined with cranial vault release using a free-floating bone flap (CVR + FFBF) technique and the resulting changes in the anterior cranial vault asymmetry index (ACVAI) and intracranial volume. Twenty patients with UCS who underwent bilateral fronto-orbital advancement combined with CVR + FFBF technique from April 2014 to May 2019 were included. Surgical efficacy was evaluated by the ACVAI and intracranial volume before the operation, 1 week after the operation, and at the last follow-up (average 19.8 months; range, 12 to 40 months). The measurement data are presented as the mean ± standard deviation and were statistically analyzed by t-test. The ACVAI was 9.07%±3.55% before the operation, 3.56%±3.42% 1 week after the operation, and 3.13%±2.41% at the last follow-up. The ACVAI 1 week after the operation was significantly lower than that before the operation (t=4.827, P<0.001). There was no significant difference between the ACVAI 1 week after the operation and at the last follow-up (t=0.660, P=0.517). The intracranial volume was 1,027.85±112.25 mL in patients before the operation and 1,131.92±161.71 mL in the normal control group, which was a statistically significant difference (t=2.364, P=0.023). The intracranial volume significantly increased 1 week after surgery: 1,081.62±111.10 mL (t=8.703, P<0.001), and this trend continued at the last follow-up (1,386.90±119.30 mL) similarly to the normal control group (1,438.22±89.28 mL). At the last follow-up, there was no significant difference between the two groups (t=1.540, P=0.132). For the treatment of UCS, bilateral fronto-orbital advancement combined with CVR + FFBF technique offers functional and cosmetic outcomes in terms of intracranial volume expansion and fronto-orbital symmetry.

Improved Facial and Skull-Base Symmetry following Osteotomy and Distraction of Unilateral Coronal Synostosis.

Unilateral coronal synostosis (UCS) results in a surgically demanding deformation, as the deformity is asymmetric in the calvaria but also presents with facial scoliosis and orbital dystopia. Traditional cranioplasties correct the forehead but have little effect on the face and orbits. In this article, the authors describe a consecutive series of patients operated on for UCS with osteotomy of the fused suture combined with distraction osteogenesis. Fourteen patients (mean age, 8.0 months; range, 4.3 to 16.6 months) were included in this study. The authors measured and compared the orbital dystopia angle, anterior cranial fossa deviation, and anterior cranial fossa cant between preoperative computed tomography results and those at distractor removal. Blood loss was 6.1 mL/kg (range, 2.0 to 15.2 mL/kg), and length of stay was 4.4 days (range, 3.0 to 6.0 days). The authors observed significant improvements in the median orbital dystopia angle from 9.8 degrees (95% CI, 7.0 to 12.6 degrees) to 1.1 degrees (95% CI, -1.5 to 3.7 degrees) ( P < 0.001), anterior cranial fossa deviation from 12.9 degrees (95% CI, 9.2 to 16.6 degrees) to 4.7 degrees (95% CI, 1.5 to 7.9 degrees) ( P < 0.001), and anterior cranial fossa cant from 2.5 degrees (95% CI, 1.5 to 3.5 degrees) to 1.7 degrees (95% CI, 0.0 to 3.4 degrees) ( P = 0.003). Osteotomy combined with a distractor for UCS straightened the face and relieved orbital dystopia by affecting the nose angle relative to the orbits, correcting the deviation of the cranial base in the anterior fossa, and lowering the orbit on the affected side. Furthermore, this technique demonstrated a favorable morbidity profile with low perioperative bleeding and a short inpatient period, suggesting its potential to improve the surgical treatment of UCS. Therapeutic, IV.

Facial and Cranial Symmetry after One-Piece Fronto-Orbital Advancement with Distraction for Isolated Unilateral Coronal Synostosis.

The surgical correction of unilateral coronal synostosis (UCS) aims to achieve longstanding facial and cranial symmetry. The authors hypothesized that endocranial morphology correction achieved by one-piece fronto-orbital advancement with distraction osteogenesis (FODO) could alleviate facial asymmetry because endocranial morphology is thought to be its major determinant. This study aimed to quantitatively analyze the changes in supraorbital and midfacial symmetry after FODO. The authors included 27 patients with UCS who underwent FODO between May of 2008 and November of 2019. The supraorbital, midfacial, and orbital symmetry ratios and the endocranial and midface angles were measured using computed tomography images. The mean follow-up period was 3.7 ± 1.9 years. The supraorbital shape became symmetric after FODO; the supraorbital distance ratio changed from 0.88 ± 0.04 to 0.98 ± 0.03 ( P < 0.001). The endocranial angulation improved from 167.5 ± 5.0 degrees to 174.4 ± 3.4 degrees ( P < 0.001) and the midface angulation decreased from 6.6 ± 2.2 degrees to 2.6 ± 1.9 degrees ( P < 0.001). In the long-term follow-up analysis (5.9 years), the endocranial angle experienced a slight relapse (-1.4% ± 0.9%) and supraorbital symmetry experienced a -2.0% ± 3.9% relapse. The midface angle continued to improve over the follow-up periods, but it was not statistically significant ( P = 0.121). The authors' observations indicate that FODO produced satisfactory outcomes in correcting supraorbital retrusion and midface asymmetry. In addition, FODO may allow anterior cranial base remodeling and help relieve midface and skull base angulation. Therefore, FODO can be a good therapeutic strategy for correcting supraorbital and facial asymmetry in patients with UCS. Therapeutic, IV.

UCSQ Method Applied on 3D Photogrammetry: Non-Invasive Objective Differentiation Between Synostotic and Positional Plagiocephaly.

Objective differentiation between unilateral coronal synostosis (UCS) and positional posterior plagiocephaly (PPP) based on 3D photogrammetry according to Utrecht Cranial Shape Quantificator (UCSQ). Retrospective study. Primary craniofacial center. Thirty-two unoperated patients (17 UCS; 15 PPP) (age < 1 year). Extraction of variables from sinusoid curves derived using UCSQ: asymmetry ratio forehead and occiput peak, ratio of gradient forehead and occiput peak, location forehead and occiput peak. Variables, derived using 3D photogrammetry, were analyzed for differentiation between UCS and PPP. Frontal peak was shifted to the right side of the head in left-sided UCS (mean x-value 207 [192-220]), and right-sided PPP (mean x-value 210 [200-216]), and to the left in right-sided UCS (mean x-value 161 [156-166]), and left-sided PPP (mean x-value 150 [144-154]). Occipital peak was significantly shifted to the right side of the head in left-sided PPP (mean x-value 338 [336-340]) and to the left in right-sided PPP (mean x-value 23 [14-32]). Mean x-value of occipital peak was 9 (354-30) in left- and 2 (350-12) in right-sided UCS. Calculated ratio of gradient of the frontal peak is, in combination with the calculated asymmetry ratio of the frontal peak, a distinctive finding. UCSQ objectively captures shape of synostotic and positional plagiocephaly using 3D photogrammetry, we therefore developed a suitable method to objectively differentiate UCS from PPP using radiation-free methods.

School-age outcomes in patients with unilateral coronal synostosis: comparison of fronto-orbital advancement and endoscopic strip craniectomy.

Outcomes research on unilateral coronal synostosis is mostly limited to the early postoperative period. This study examines facial asymmetry, desire for revision, and patient-reported outcomes at school age in children who received either endoscopic strip craniectomy with helmet therapy or fronto-orbital advancement (open repair). Patients with repaired unilateral coronal synostosis born between 2000 and 2017, with 3D photographs taken when they were between 3.5 and 8 years of age, were eligible for study inclusion. Three pairs of bilateral linear measurements and two angular measurements were taken. Parent- and physician-reported desire for revision and patient-reported outcomes (Patient-Reported Outcomes Measurement Information System cognitive function and Quality of Life in Neurological Disorders stigma scores) were collected from patient charts. Thirty-five patients qualified, including 25 with open repair and 10 with endoscopic repair. The median patient ages at repair were 3 months and 8 months in the endoscopic and open groups, respectively. The average ages at final 3D photography were 5.8 years and 5.5 years in the endoscopic and open groups, respectively. Digital anthropometry revealed no significant differences in measures of facial asymmetry between the repair groups (p ≥ 0.211). Midface depth (tragion to subnasale) was significantly less symmetric at school age than other linear measures (F(2,102) = 9.14, p < 0.001). Forehead asymmetry was significantly associated with parent- and physician-reported desire for revision (p ≤ 0.006). No significant associations were found between physical asymmetry and patient-reported stigma or cognitive function (p > 0.046, Holm-Bonferroni correction). Children who underwent open or endoscopic repair for unilateral coronal synostosis have comparable facial symmetry at school age, but midface depth remains highly asymmetrical in both groups. Forehead asymmetry at school age correlates with parent- and physician-reported desire for revision.

Post-operative Helmet Therapy in Patients with Unilateral Coronal Craniosynostosis

Statement of the problemOut of all the synostotic corrective surgeries, fronto-orbital advancement and cranial vault remodeling for patients with unilateral coronal synostosis is 1 of the hardest to maintain ideal correction without relapse.1,2 Over the course of 20 years operating on these patients, the senior author (MMU) has made multiple adjustments to compensate for this relapse, including overcorrection on the affected side, superior orbital rim grafting, additional points of fixation, periosteal release, and scalp expansion with galeal scoring to minimize tension of the closure. As a result of these interventions, researchers have seen a positive increase of on-table results. However, the researchers have continued to note relapse postoperatively. As such, MMU has started to implement postoperative helmet therapy (PHT) to help maintain the surgical correction, improve brachycephaly, and increase overall symmetry. Methods and materialsAn IRB-approved retrospective review of all patients who underwent FOA and CRV followed by PHT for isolated unilateral nonsyndromic coronal synostosis at an institution between April 2017 and April 2020 was performed. Patients with insufficient data, significant deformational plagiocephaly, and multi-suture craniosynostosis and those not treated at Cranial Technologies (Pasadena, CA) for PHT were excluded for consistency of measurements and outcomes. Data collected included age at surgery, age at helmet initiation, follow-up duration, and PHT duration. Anthropometric measurements were performed using a proprietary machine learning application (Landmarks3D, Cranial Technologies, Tempe, AZ). Anthropometric data were collected, including cranial index and cranial vault asymmetry index (CVAI) at initiation (int) of helmet therapy and at termination (final) of helmet therapy. ResultsEleven patients (4 male, 7 female) meeting criteria were treated in the studied time period. Six patients had right UCS and 5 patients had left UCS. The median age at surgery was 8.5 months (range 7 to 11). The median time from surgery to initiating helmet therapy after fittings and swelling reduction was 1.56 months (range 0.65 to 3.35). The median duration of PHT was 5.4 months (range 4.1 to 9.8). The mean CI int was 92.67 (SD 2.54). The mean CI final was 87.41 (SD 4.16). The mean CVAI int was 4.80 (SD 1.29). The mean CVAI final was 3.13 (SD 1.40). Outcomes dataIn patients with unilateral coronal synostosis, postoperative helmet therapy can minimize the amount of relapse often observed in this condition. ConclusionPostoperative helmet therapy for patients with unilateral coronal synostosis is a reasonable low-risk complement to fronto-orbital advancement and cranial vault remolding. Clinically, PHT appears to help minimize relapse and improve overall head symmetry. Further investigation and increased patient enrollment are required to determine the true benefits of PHT in this patient population.

Long-term ophthalmic outcomes in 120 children with unilateral coronal synostosis: a retrospective look over 20 years

Prior studies comparing ophthalmic outcomes after treating unicoronal synostosis (UCS) by early endoscopic strip craniectomy (ESC) vs later fronto-orbital advancement (FOA) were modest in sample size, lacked consistent age adjustment and were contested. We report long-term age-adjusted ophthalmic outcomes for a large cohort after nonrandomized treatment by one of these two options.

Severity of Unilateral Coronal Synostosis Linked to Intracranial Volume.

Severity of unilateral coronal synostosis (UCS) varies and can affect intracranial volume (ICV), and intracranial pressure. Correlation between ICV and severity according to Utrecht Cranial Shape Quantifier and presence of papilledema as sign of raised intracranial pressure is determined. The authors included patients with UCS (≤18 months). Intracranial volume was calculated on preoperative CT scans by manual segmentation (OsiriX [Fondation OsiriX, Geneva, Switzerland]). Calculated ICV was compared to Lichtenberg normative data for control patients. When present, papilledema was noted. Utrecht Cranial Shape Quantifier was used to quantify severity using the variables: asymmetry ratio of frontal peak and ratio of frontal peak gradient. Severity of UCS was correlated to ICV using Pearson correlation coefficient. Mean age at CT scan of patients with UCS was 7 months (1-18 months). Mean calculated ICV was 870.96 mL (617.31-1264.46 mL). All patients had ICV between ± 2 SD curves of Lichtenberg; 10 had an ICV between -1 SD and +1 SD. Majority of ICV in girls was at or larger than normative mean, in boys ICV was mostly lower than normative mean. Pearson correlation coefficient between severity of UCS and ICV was negligible (r = -0.28). Preoperative papilledema during fundoscopy was found in 4.5% (1/22; ICV 1003.88 mL; severe UCS). Therefore, severity of UCS does not correlate to ICV. Despite varying severity of UCS, ICV remains within normal ranges.

Impact of the Craniofacial Surgery Simulation in Anterior Plagiocephaly on Orbits and Oculomotor Muscles: Biomechanical Analysis With a Finite Element Model.

The aim of this study was to show the displacements and strain induced by the supraorbital band advancement during a craniofacial surgery for an anterior plagiocephaly on the orbital bones and the orbital content thanks to a numerical surgical simulation using the finite element method. A three-dimensional (3D) finite element model of a child with an anterior plagiocephaly was entirely created from a tomodensitometry of a patient followed by our Craniofacial Pediatric team. Data of the tomodensitometry were computed with Slicer 3D to re-create the orbit geometry. Mesh production, properties of the model, and simulations of the fronto-orbital advancement were conducted on Hyperworks software (Altair Engineering, Inc., Detroit, MI, USA). The resulting 3D Finite Element Model was used to perform the supraorbital advancement simulation. Displacement and strain patterns were studied for orbital bones, oculomotor muscles, and eyeballs. Relative high strain in the both trochlear area and excycloration of the right orbit are among the most interesting results as torsional strabismus as V-pattern strabismus are often described in children with an anterior plagiocephaly. This pediatric Finite-Element Model of both orbits of a child with an anterior plagiocephaly showed the impact of the fronto-orbital advancement on the oculomotor system. This model described the relationship between the craniofacial surgery and the strabismus in the unilateral coronal synostosis. The advantages of this model are the many opportunities for improvement, including postoperative period and additional surgical procedures.

Postoperative helmet therapy following fronto-orbital advancement and cranial vault remodeling in patients with unilateral coronal synostosis.

Out of all the synostotic corrective surgeries, fronto-orbital advancement and cranial vault remodeling for patients with unilateral coronal synostosis is one of the hardest to maintain symmetric and proportional correction without some amount of relapse. Over the course of 20 years operating on these patients, the senior author has made multiple adjustments to compensate for relapse asymmetry, including overcorrection on the affected side, increased points of fixation, periosteal release, and scalp expansion with galeal scoring to minimize tension of the closure. As a result of these interventions, we have seen improved immediate results following surgery. However, we have continued to note clinically significant relapse postoperatively. As such, we have started to implement postoperative helmet therapy (PHT) to help maintain the surgical correction, improve secondary brachycephaly, and increase overall symmetry. PHT is a reasonable low-risk complement to fronto-orbital advancement and cranial vault remolding. Clinically, PHT appears to help minimize relapse and improve overall head symmetry. Further investigation and increased patient enrollment are required to determine the true benefits of PHT in this patient population.

Open craniofacial reconstruction for coronal craniosynostosis

Here the authors demonstrate open craniofacial reconstruction for the correction of craniosynostosis, using techniques refined by Dr. James T. Goodrich at Montefiore Medical Center. They present the operative management of a case of unilateral coronal synostosis in a 12-month-old child, who presented with right forehead prominence and calvarial asymmetry. The patient had an excellent correction of her head shape with an uneventful postoperative course. This video highlights the authors’ multidisciplinary approach to complete cranial vault remodeling, utilizing a Marchac bandeau construct and split calvarial graft mosaic technique.The video can be found here: https://vimeo.com/519489422.

Long-term ophthalmic outcomes in 120 children with unilateral coronal synostosis: a 20-year retrospective analysis

Prior studies comparing ophthalmic outcomes after treating unicoronal synostosis (UCS) by early endoscopic strip craniectomy (ESC) versus later fronto-orbital advancement (FOA) are modest in sample size, or lack consistent age adjustment. We report long-term, age-adjusted ophthalmic outcomes for a large cohort after nonrandomized treatment by one of these two options. The following data was retrieved from a retrospective review of the medical records of patients with treated UCS born since 2000: cycloplegic refractions, sensorimotor examinations, and strabismus procedures before craniofacial repair and postoperatively at approximately 18 and 60months of age. V-pattern strabismus was graded as mild (absent or+1/-1 oblique dysfunction) versus moderate-to-severe (≥+2/-2 oblique dysfunction or left to right vertical alignment change of ≥20Δ or ocular torticollis >15°). A total of 120 infants were included: 60 treated by FOA and 60 by ESC. By the late examination, aniso-astigmatism was present in 72% of FOA-treated patients and 46% of ESC-treated patients (P<0.0001). By late examination, the age-adjusted odds ratio of moderate-to-severe V-pattern strabismus after treatment by FOA versus ESC was 2.65 (95% CI, 1.37-6.28; P=0.02); strabismus surgery was performed in 26 infants treated by FOA compared with 13 treated by ESC (OR=2.8; P=0.02). Amblyopia developed in 60% of FOA-treated patients compared with 35% of those treated by ESC (OR 3.0; 95% CI, 1.3-6.7; P=0.02). Our age-adjusted ophthalmic results confirm better long-term outcomes after treatment of USC by endoscopic strip craniectomy. Recognition and referral of affected infants by the earliest months of life facilitates the opportunity for endoscopic repair.

Sphenotemporal and Fronto-Orbital Dysmorphology in Unilateral Coronal Synostosis Using Geometric Morphometric Curve-Based Analysis.

Geometric morphometric analysis with Procrustes superimposition is a commonly used method to characterize and study complex dysmorphology. The present study employs an advanced Procrustes-based approach to studying craniofacial dysmorphology in unilateral coronal synostosis and quantitatively describe bony patterns in this disorder, in order to better understand the associated fronto-orbital and sphenotemporal deformities. Forty-one unilateral coronal synostosis (UCS) patients and 41 age- and sex-matched controls underwent high-resolution computed tomography imaging. Thirty-one anatomical landmarks were labeled on each imaging set. Landmarks were used to calculate angle, lengths, and define fronto-orbital and sphenotemporal anatomical curves. A validated geometric morphometric workflow was used to perform a Procrustes superimposition to register landmarks into a common space and perform a principal components analysis. Supraorbital bar curvature was significantly increased ipsilateral to the fused suture and decreased contralateral, P < 0.0001 for both sides. The sagittal sphenotemporal curve also showed ipsilateral increase in curvature (P < 0.0001) but there was no effect on the contralateral side (P > 0.05). Geometric morphometric analysis revealed significant dysmorphology between UCS patients and controls. These results suggest bilateral changes in fronto-orbital curvature and ipsilateral changes in sagittal sphenotemporal curvature, which may be useful in further characterizing the dynamic craniofacial changes in UCS.

Orbital volume, ophthalmic sequelae and severity in unilateral coronal synostosis

PurposeUnilateral coronal synostosis (UCS) results in an asymmetrical skull, including shallow and asymmetrical orbits, associated with reduced orbital volume and high prevalences of ophthalmic sequelae. Aim is to link orbital volumes in patients with UCS to severity according to UCSQ (Utrecht Cranial Shape Quantifier) and presence of ophthalmic sequelae.MethodsWe included preoperative patients with UCS (≤ 18 months). Orbital volume was measured on CT scans by manual segmentation (Mimics software (Materialise, Leuven, Belgium)), and severity of UCS was determined by UCSQ. Orbital volume of affected side was compared to unaffected side using Wilcoxon signed rank test. Orbital volume ratio was calculated (affected/unaffected volume) and compared to the category of UCSQ by Kruskal-Wallis test. Opthalmic sequelae were noted.ResultsWe included 19 patients (mean age 7 months). Orbital volume on affected side was significantly lower (p = 0.001), mean orbital volume ratio was 0.93 (SD 0.03). No significant differences in group means of orbital volume ratio between different levels of severity of UCSQ were found (Kruskal-Wallis H (2) = 0.873; p > 0.05). Ophthalmic sequelae were found in 3 patients; one had adduction impairment and strabismus (mild UCS), one had astigmatism (moderate UCS), and one had abduction impairment (on both ipsi- and contralateral side) and vertical strabismus (severe UCS).ConclusionNo association between orbital volume ratio and severity of UCS was found. Side-to-side asymmetry in orbital volume was noted. No association between either preoperative orbital volume ratio or severity of UCS and the presence of preoperative ophthalmic sequelae was found.

De novo ALX4 variant detected in child with non-syndromic craniosynostosis.

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.