Syndromic Craniosynostosis Patients Research Articles

Distraction osteogenesis in craniosynosotosis: technical note

Introduction: Craniosynostosis is a group of diseases whose main characteristic is the premature fusion of one or more cranial sutures. They can be subdivided into non-syndromic and syndromic. The posterior vault distraction osteogenesis (PVDO) has become the standard procedure for managing the intracranial hypertension of these patients. The objective of this paper is to report the experience of the Sobrapar Hospital (Campinas, Brazil) in treating and following up on syndromic craniosynostosis patients subjected to PVDO and highlight the lessons learned throughout this process. Methods: The medical records of the patients treated at the Sobrapar Hospital between 2013 and 2023 were reviewed. Results: The total of patients initially candidates to PVDO was 79, and 75 of them proceeded to the surgery. The mean age of surgery was 8,16 months old (ranging from 4 months to 12 years old). The length of stay ranged from 2 to 14 days, with a mean of 3,29 days. The distraction achieved ranged from 13 mm to 30 mm, with a mean distance of 23 mm. The postoperative complications were mostly cutaneous. CSF leak occurred in 3 patients. Conclusion: PVDO provides a progressive formation of a vascularized bone, its intracranial volume expansion is greater than the FOA, increasing the posterior fossa’s size (even when the craniotomy is supratorcular) and it improves Chiari’s symptoms, even when the radiologic abnormalities are not necessarily solved. A specialized and multidisciplinary team is essential to improving the success rates of the surgery.

Skeletal expansion via craniofacial distraction osteogenesis technique in syndromic craniosynostosis: impact on ophthalmic parameters.

This study aims to compare the changes in ophthalmic parameters among syndromic craniosynostosis patients who underwent craniofacial skeletal expansion procedures via distraction osteogenesis (DO). A retrospective study was conducted involving syndromic craniosynostosis patients who underwent surgical expansion via the DO technique from the year 2012 to March 2022. Changes in six parameters which consist of visual acuity, refractive error, optic disc health, intraocular pressure, degree of proptosis and orbital volume were measured objectively pre and post-surgery. For categorical parameters, the Chi-square cross-tab test was done. Paired sample T-test was used for normally distributed variables. Wilcoxon signed-rank test was used for non-normally distributed data. Visual impairment was present in 21.4% of eyes before surgery and increased to 28.5% post-surgery. Three patients had changes of refractive error post-surgery with one developed hypermetropia, another developed anisometropia and the last had improvement to no refractive error. Two patients had optic disc swelling which was resolved post-surgery. Intraocular pressure changes were inconsistent post-surgery. All patients achieved a significant reduction in the degree of proptosis post-surgery. Orbital volume calculation using computed tomography (CT) scans shows a significant increase in volume post-surgery for all patients. Our study shows a significant increase in orbital volume post-surgery with a reduction in the degree of proptosis. Optic disc and nerve health improved after the surgery. Changes in terms of visual acuity, refractive error and IOP were inconsistent after the surgical intervention.

Neurocognitive outcomes and associated clinical factors 5 years after surgery in children with craniosynostosis.

Craniosynostosis involves early closure of one or more sutures, which is known to limit normal cranium growth and interfere with normal brain development. Various surgical methods are used, ranging from minimally invasive strip craniectomy to more extensive whole-vault cranioplasty. This study aimed to evaluate neurocognitive outcomes 5 years after surgical treatment in children with craniosynostosis and to evaluate relevant clinical factors. After exclusion of genetically confirmed syndromic craniosynostosis patients, a retrospective review was conducted on 112 nonsyndromic craniosynostosis patients who underwent surgical treatment and follow-up neurocognitive assessment. Ninety-seven patients underwent strip craniectomy with postoperative orthotic helmet therapy, and 15 received other surgical treatment: 4 with distraction osteotomy and 11 with craniofacial reconstruction. Neurocognitive assessment using the Korean Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition (K-WPPSI-IV), was performed 5 years postoperatively. Clinical factors were assessed regarding neurocognitive outcomes. The mean age at surgery was significantly younger in the strip craniectomy group (strip craniectomy 4.6 months vs other surgical treatment 18.6 months, p < 0.01). Patients with 2 or more sutures involved were more likely to receive more extensive surgical treatment (16.5% in the strip craniectomy group vs 53.8% in the other group, p < 0.01). Four (3.5%) patients who showed evidence of increased intracranial pressure (ICP) also underwent more extensive surgical treatment. Multivariable linear regression revealed a significant correlation of age at neurocognitive testing (-3.18, 95% CI -5.95 to -0.40, p = 0.02), increased ICP (-34.73, 95% CI -51.04 to -18.41, p < 0.01), and the level of maternal education (6.11, 95% CI 1.01-11.20, p = 0.02) with the Full-Scale Intelligence Quotient (FSIQ). Age at surgery, involvement of 2 or more sutures, and type of operation demonstrated no correlation with FSIQ. Among the 97 patients who underwent strip craniectomy, the FSIQ ranged from mean ± SD 100.2 ± 10.2 (bicoronal) to 110.1 ± 12.7 (lambdoid), and there was no significant difference between the suture groups (p = 0.41). The 5 index scores were all within average ranges based on their age norms. Age at neurocognitive assessment, increased ICP, and maternal education level showed significant correlations with the neurocognitive function of craniosynostosis patients. Although children with craniosynostosis exhibited favorable 5-year postoperative neurocognitive outcomes across various synostosis sutures, longer follow-up is needed to reveal the incidence of neurocognitive dysfunction in these patients.

The Outcomes of Endoscopic Suturectomy in Syndromic Craniosynostosis.

Endoscopic suturectomy is a widely practiced surgical option for infants with craniosynostosis. But the efficacy and safety of the procedure remain unclear in syndromic patients. This study aims to evaluate the efficacy and safety of endoscopic suturectomy for patients with syndromic craniosynostosis. From January 2013 to December 2020, 242 patients underwent endoscopic suturectomy at our institution. The surgical outcome was determined to be favorable or unfavorable based upon the necessity of an additional cranial surgery upon the last follow-up. First, we analyzed the outcomes of 26 syndromic craniosynostosis patients who have followed up for over a year. Second, we compared the outcomes between the syndromic (N=12) and nonsyndromic (N=11) patients with bilateral coronal synostosis who have followed up for over a year. Twenty-three out of 26 syndromic craniosynostosis patients (88%) showed favorable outcomes without significant complications. In the analysis for bilateral coronal synostosis patients, 11 of 12 syndromic patients (92%) presented favorable outcomes, and all nonsyndromic patients showed favorable outcomes. No significant differences were observed in various anthropometric indices (cranial index, intracranial volume, anterior cranial height, anterior cranial base length, and cranial height-length index) and surgical outcomes between syndromic and nonsyndromic groups. Endoscopic suturectomy has the potential to be a surgical option for syndromic craniosynostosis. Even for patients with unfavorable outcomes, endoscopic suturectomy could serve as a bridge treatment for infants to counter cranial deformation before additional extensive surgery.

Incidence of Airway Abnormalities in Children With Craniosynostosis.

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. 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. 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. 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.

Midface hypoplasia in syndromic craniosynostosis: predicting craniofacial growth via a novel regression model from anatomical morphometric analysis

Midface hypoplasia in syndromic craniosynostosis (SC) may lead to serious respiratory issues. The aim of this study was to analyse the morphometric correlation between midface and cranial base parameters in paediatric SC patients in order to formulate predictive regression models. The computed tomography scans of 18 SC patients and 20 control were imported into Materialise Mimics Medical version 21.0 software for the measurement of multiple craniofacial landmarks and correlation analysis. The results showed a strong correlation of anterior cranial base (SN), posterior cranial base (SBa), and total cranial base (NBa) (r = 0.935) to maxilla length and width (ZMR–ZML) (r = 0.864). The model of NBa = − 1.554 + 1.021(SN) + 0.753(SBa) with R2 = 0.875 is proposed to demonstrate the development of the cranial base that causes a certain degree of midface hypoplasia in SC patients. The formula is supported using a prediction model of ZMR–ZML = 5.762 + 0.920(NBa), with R2 = 0.746. The mean absolute difference and standard deviation between the predicted and true NBa and ZMR–ZML were 2.08 ± 1.50 mm and 3.11 ± 2.32 mm, respectively. The skeletal growth estimation models provide valuable foundation for further analysis and potential clinical application.

What We Know About Intracranial Hypertension in Children With Syndromic Craniosynostosis.

A scoping review of literature about mechanisms leading to intracranial hypertension (ICH) in syndromic craniosynostosis (sCS) patients, followed by a narrative synopsis of whether cognitive and behavioral outcome in sCS is more related to genetic origins, rather than the result of ICH. The scoping review comprised of a search of keywords in EMBASE, MEDLINE, Web of science, Cochrane Central Register of Trials, and Google scholar databases. Abstracts were read and clinical articles were selected for full-text review and data were extracted using a structured template. A priori, the authors planned to analyze mechanistic questions about ICH in sCS by focusing on 2 key aspects, including (1) the criteria for determining ICH and (2) the role of component factors in the Monro-Kellie hypothesis/doctrine leading to ICH, that is, cerebral blood volume, cerebrospinal fluid (CSF), and the intracranial volume. Of 1893 search results, 90 full-text articles met criteria for further analysis. (1) Invasive intracranial pressure measurements are the gold standard for determining ICH. Of noninvasive alternatives to determine ICH, ophthalmologic ones like fundoscopy and retinal thickness scans are the most researched. (2) The narrative review shows how the findings relate to ICH using the Monro-Kellie doctrine. Development of ICH is influenced by different aspects of sCS: deflection of skull growth, obstructive sleep apnea, venous hypertension, obstruction of CSF flow, and possibly reduced CSF absorption. Problems in cognition and behavior are more likely because of genetic origin. Cortical thinning and problems in visual function are likely the result of ICH.

Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.

Syndromic craniosynostosis (CS) patients exhibit early, bony fusion of calvarial sutures and cranial synchondroses, resulting in craniofacial dysmorphology. In this study, we chronologically evaluated skull morphology change after abnormal fusion of the sutures and synchondroses in mouse models of syndromic CS for further understanding of the disease. We found fusion of the inter-sphenoid synchondrosis (ISS) in Apert syndrome model mice (Fgfr2S252W/+ ) around 3 weeks old as seen in Crouzon syndrome model mice (Fgfr2cC342Y/+ ). We then examined ontogenic trajectories of CS mouse models after 3 weeks of age using geometric morphometrics analyses. Antero-ventral growth of the face was affected in Fgfr2S252W/+ and Fgfr2cC342Y/+ mice, while Saethre-Chotzen syndrome model mice (Twist1+/- ) did not show the ISS fusion and exhibited a similar growth pattern to that of control littermates. Further analysis revealed that the coronal suture synostosis in the CS mouse models induces only the brachycephalic phenotype as a shared morphological feature. Although previous studies suggest that the fusion of the facial sutures during neonatal period is associated with midface hypoplasia, the present study suggests that the progressive postnatal fusion of the cranial synchondrosis also contributes to craniofacial dysmorphology in mouse models of syndromic CS. These morphological trajectories increase our understanding of the progression of syndromic CS skull growth.

Management of Chiari 1 Malformation and Hydrocephalus in Syndromic Craniosynostosis

Chiari 1 malformation and hydrocephalus are frequent findings in multi-suture and syndromic craniosynostosis patients. In this article, we review the pathogenesis, clinical significance, and management options for these conditions with comments from our own experience. The role of premature fusion of skull base sutures leading to a crowded posterior fossa and venous outflow obstruction resulting in impaired cerebrospinal fluid (CSF) absorption is highlighted. Management options are unique in this group and we advocate early (prior to 6 months of age) posterior vault expansion by distraction osteogenesis (DO) in the management of Chiari 1 malformation. Foramen magnum decompression is recommended for a select few either as part of posterior vault expansion or at a later date. Treatment of hydrocephalus, utilizing a ventriculoperitoneal (VP) shunt with preferably a programmable high-pressure valve and anti-siphon device, is required in a small percentage of cases despite successful posterior vault expansion. Patients need to be carefully selected and managed as hydrocephalus often serves as an important cranial vault growth stimulus. Further, they require careful monitoring and thought to ensure the management of these conditions and the timing of any intervention provides the optimal long-term outcome for the patient.

A diffusion tensor imaging analysis of white matter microstructures in non-operated craniosynostosis patients

PurposeIn 7 to 15-year-old operated syndromic craniosynostosis patients, we have shown the presence of microstructural anomalies in brain white matter by using DTI. To learn more about the cause of these anomalies, the aim of the study is to determine diffusivity values in white matter tracts in non-operated syndromic craniosynostosis patients aged 0–2 years compared to healthy controls.MethodsDTI datasets of 51 non-operated patients with syndromic craniosynostosis with a median [IQR] age of 0.40 [0.25] years were compared with 17 control subjects with a median of 1.20 [0.85] years. Major white matter tract pathways were reconstructed with ExploreDTI from MRI brain datasets acquired on a 1.5 T MRI system. Eigenvalues of these tract data were examined, with subsequent assessment of the affected tracts. Having syndromic craniosynostosis (versus control), gender, age, frontal occipital horn ratio (FOHR), and tract volume were treated as independent variables.Resultsʎ2 and ʎ3 of the tracts genu of the corpus callosum and the hippocampal segment of the cingulum bundle show a ƞ2 > 0.14 in the comparison of patients vs controls, which indicates a large effect on radial diffusivity. Subsequent linear regressions on radial diffusivity of these tracts show that age and FOHR are significantly associated interacting factors on radial diffusivity (p < 0.025).ConclusionSyndromic craniosynostosis shows not to be a significant factor influencing the major white matter tracts. Enlargement of the ventricles show to be a significant factor on radial diffusivity in the tracts corpus callosum genu and the hippocampal segment of the cingulate bundle.Clinical trial registration: MEC-2014-461

Left ‐ Right Asymmetry of the Jugular Foramen in Multisuture Syndromic Craniosynostosis

IntroductionApert and Crouzon syndromes are among the most common craniosynostosis syndromes found in children. Mutations have been found in the fibroblast growth factor receptor 2 (FGFR2) gene in both syndromes. Although different mutations, the common mutated receptor raises suspicion for its involvement in the cranial morphogenesis found in these syndromic craniosynostosis patients.The shapes of these children’s skulls have long been thought to be the result of early fusion of the synchondroses. The syndromic morphology of the skulls in these patients, in particular Apert, results from a combination of abnormal development of the skull base, neural tissue, and calvaria. Investigations of these effects has led multiple studies to find decreased volumes of the posterior fossa in craniosynostosis patients and effects on the basicranial foramina of the skull, in particular the jugular foramen.Craniosynostotic children develop elevated intracranial pressure (ICP), as well as, other complications such as hydrocephalus and tonsillar herniation related to this increased pressure and skull dysmorphology. Narrowing of the jugular foramen is a potential cause of venous hypertension and may contribute to the ICP.This study analyzes the size of the jugular foramina in an effort to relate the severity of the foraminal stenosis to timing of synchondroses fusion, seen earlier in Crouzon patients. Additionally, as right jugular foramina have been found to be larger than left in the general population, our study analyzes the right and left jugular foramen sizes in relationship to each other in each Apert and Crouzon patient.MethodsTwelve preoperative CT scans of individuals diagnosed with either Apert or Crouzon syndrome were individually segmented and volume of the right and left jugular foramina estimated in Avizo. Volumes were analyzed using Wilcoxon Rank Sum and Kruskal‐Wallis one‐way ANOVA tests in SPSS. Scatter plots of the ratio of right to left foraminal volumes were created using Excel. This study was conducted under LSUHSC IRB #920.Results and DiscussionInitial results found no significant differences between right and left jugular foramina, however, absolute measurement of volumes most often recorded larger volumes on the left, contrary to that seen in the normal population. Scatter plots revealed two distinct clusters based on ratio of left‐right asymmetry which may reflect a difference in diagnosis.

An Auxiliary Cranioparietal Anchorage System to Improve the Stability of the Rigid External Distraction Device in Children With Crouzon Syndrome.

Rigid external distraction (RED) device instability because of thin skulls in syndromic craniosynostosis patients remains challenging. The authors propose the use of an auxiliary cranioparietal anchorage system to improve RED device stability in patients with Crouzon syndrome. Five consecutive patients with Crouzon syndrome underwent Le Fort III osteotomy with midface advancement using a modified external device. Cephalometric analysis and three-dimensional computed tomography images were evaluated preoperatively and after device removal. Mechanical analyses of the RED device with and without the auxiliary cranioparietal anchorage system were performed. Both postoperative photographs and follow-up computed tomographs showed obvious midfacial advancement with no intracranial pin perforation or external frame migration. Mechanical analysis showed that the new system reduced the possibility of postoperative external frame migration. The auxiliary cranioparietal anchorage system might be considered an adjunct to the RED device in patients with Crouzon syndrome to avoid postoperative complications.

Effect of Early Spheno-Occipital Synchondrosis Fusion in Preadolescent Patients With Syndromic Craniosynostosis on Craniofacial Skeletal Patterns: A Preliminary Study Using Cephalometric Analysis.

The purpose of this study was to investigate the effects of early spheno-occipital synchondrosis (SOS) fusion in preadolescent patients with syndromic craniosynostosis (SC) on the craniofacial skeletal patterns. Twenty preadolescent SC patients were divided into the fused SOS (FS, n = 10; 8 Crouzon and 2 Apert) and not-fused SOS groups (NFS, n = 10; 9 Crouzon and 1 Apert). Lateral cephalograms (mean age: 9.60 years, cervical vertebral maturation index: stage I and II) were used to investigate the skeletal sagittal (ANB) and vertical patterns (SN-GoMe), upward inclination of the anterior cranial base (ACB; SN-FH), degree of midface hypoplasia (MH, SNA), retrusive position of orbitale (SNO), and forward position of the condyle in relation to sella (saddle angle). Using the ordinal values calculated by ethnic norm (criteria: moderate, over ±1 standard deviation, severe, over ±2 standard deviation), statistical analysis was performed. The FS group showed a higher percentage of severe MH than the NFS group (70% versus 10%, P < 0.05). Although the 2 groups did not differ in the distribution of ANB, SN-GoMe, saddle angle, and SN-FH (all P > 0.05), the FS group showed relatively higher percentages of severe Class III (100% versus 70%), severe hyper-divergent pattern (40% versus 10%), severely forward condyle position (30% versus 0%), and moderate and severe upward anterior cranial base inclination (90% versus 50%) than the NFS group. However, the 2 groups exhibited the same distribution of moderately and severely retrusive orbitale position ([50%, 20%], P > 0.05). Early SOS fusion in preadolescent SC patients might not be related to retrusive orbitale position, but to severe MH.

Monobloc Differential Distraction Osteogenesis.

Midface advancement at the monobloc level can be the seminal life event for patients with craniofacial dysostosis. Monobloc reconstruction, when planned appropriately, can simultaneously and definitively address multiple functional and aesthetic deficiencies in these patients. The application of distraction has reduced the morbidity experienced with traditional monobloc surgery. The purpose of this study is to report on the outcomes, stability, and growth in younger patients after monobloc advancement in syndromic craniosynostosis patients. The authors report a consecutive series of thirty patients with craniofacial dysostosis treated through monobloc differential distraction osteogenesis. Detailed history, photographic, and long-term radiographic data are reviewed, including a subset of patients who were skeletally immature at the time of their treatment. Differential distraction allows control of midface pitch, roll, and yaw, optimizing functional and aesthetic outcomes. There were no infectious complications requiring reoperation. The average surgical age for all patients was 12.5 years. For the 7 patients age <7 years, average age was 6 years. For all patients, the mean horizontal movement was 12 mm at nasion and 10 mm at A-point. At mean follow-up (4.8 years entire group and 6.2 years age <7 years group) a positive horizontal advancement of 1.1 mm at nasion and 0.8 mm at A-point was observed. More pronounced positive horizontal changes were seen in the age <7 years group. Monobloc differential distraction osteogenesis affords safe and precise repositioning of the midface. The advancement is skeletally stable and young patients show moderate continued growth.

Optic canal characteristics in pediatric syndromic craniosynostosis

The aim of this study was to compare optic canal parameters of syndromic craniosynostosis patients with those of normal patients to visit the possibility of optic nerve impingement as a cause of visual impairment.Computed tomography scan images were processed using the Materialise Interactive Medical Image Control System (MIMICS) Research 21.0 software (Materialise NV, Leuven, Belgium). Eleven optic canal parameters were measured: 1) height of optic canal on the cranial side, 2) height of optic canal on the orbital side 3) length of the medial wall of the optic canal, 4) length of the lateral canal wall of the optic canal, 5) diameter of the optic canal at five points (Q1-Q4 and mid canal), and 6) area and perimeter of optic canal. These measurements were obtained for both the right and left optic canals.The study sample comprised four Crouzon syndrome, five Apert syndrome, and three Pfeiffer syndrome patients. The age of these syndromic craniosynostosis patients ranged from 2 to 63 months. The height of the optic canal on the orbital side (p = 0.041), diameter of the mid canal (p = 0.040), and diameter between the mid-canal and the cranial opening (Q3) (p = 0.079) for syndromic craniosynostosis patients were statistically narrower compared with those of normal patients when a significance level of 0.1 was considered. Scatter plots for the ages of patients versus the above parameters gave three separated clusters that suggested the arresting of optic canal development with age.The findings from this study demonstrated a narrowing of the optic canal in syndromic craniosynostosis patients, and indicate that optic canal anatomical characteristics may have an association with visual impairment among pediatric syndromic craniosynostosis patients.

Facial Suture Pathology in Syndromic Craniosynostosis: Human and Animal Studies.

Facial deformities in syndromic craniosynostosis are not only functionally, psychosocially, and aesthetically impairing but also notoriously challenging to reconstruct. Whether facial suture synostosis plays a significant role in the pathogenesis of these deformities is inadequately studied in human patients. The MEDLINE database was queried using a methodologically generated search term inventory. Article inclusion was adjudicated by 2 authors after independent review. Articles provided insight into facial suture involvement in either syndromic craniosynostosis patients or animal models of disease. Comprehensive review yielded 19 relevant articles meeting inclusion criteria. Mid-20th century craniofacial biologists characterized how patent facial sutures are essential for normal postnatal facial development. They also posited that premature ossification disrupts growth vectors, causing significant dysmorphologies. Recently, facial suture synostosis was found to cause midfacial deformities independent of cranial base pathology in mouse models of syndromic craniosynostosis. Few recent studies have begun exploring facial suture involvement in patients, and although they have paved the way for future research, they bear significant limitations. The hypothesis that facial suture synostosis acts in conjunction with cranial base pathology to produce the prominent, multifocal facial deformities in syndromic craniosynostosis may fundamentally alter surgical management and warrants further investigation. Methodically evaluating the literature, this review synthesizes all basic science and human clinical research thus far on the role of facial sutures in syndromic craniosynostosis and elucidates important topics for future research. We ultimately identify the need for rigorous imaging studies that longitudinally evaluate facial osteology across patients with various craniosynostosis syndromes.

Morphological improvement after multi-directional cranial distraction osteogenesis procedure for syndromic craniosynostosis.

The multidirectional cranial distraction osteogenesis (MCDO) procedure, which uses an external distraction device, enables tailor-made distraction in an arbitrary direction, eliminating the disadvantage of unidirectional distraction with an internal distraction device. Multiple-suture synostosis cases for syndromic craniosynostosis patients are better indicated for this procedure. Here the authors describe seven cases in which the MCDO procedure was used to treat syndromic craniosynostosis. In each case, the MCDO procedure and postoperative distraction, with reference to midsagittal vector analysis of normal morphology in Japanese children, resulted in morphological improvement.The video can be found here: https://vimeo.com/519006555

Ocular biometric features of pediatric patients with fibroblast growth factor receptor-related syndromic craniosynostosis

Ametropia is reported as a common ophthalmic manifestation in craniosynostosis. We retrospectively compared childhood refractive error and ocular biometric features of fibroblast growth factor receptor (FGFR)-related syndromic craniosynostosis patients with those of non-syndromic craniosynostosis and control subjects. Thirty-six eyes (18 patients) with FGFR-related syndromic craniosynostosis, 76 eyes (38 patients) with non-syndromic craniosynostosis, and 114 eyes (57 patients) of intermittent exotropes were included in the analysis. Mean age at examination was 7.82 ± 2.51 (range, 4–16) years and mean spherical equivalent was -0.09 ± 1.46 Diopter. Mean age and refractive error were not different between groups, but syndromic craniosynostosis patients had significantly longer axial length, lower corneal power, and lower lens power than other groups (p < 0.01, p < 0.01, and p < 0.01, respectively). Axial length was positively correlated and keratometry and lens power were negatively correlated with age in non-syndromic craniosynostosis and controls, while these correlations between age and ocular biometric parameters were not present in the FGFR-related syndromic craniosynostosis. In conclusion, ocular biometric parameters in FGFR-related syndromic craniosynostosis differed from those of non-syndromic craniosynostosis and age-matched controls, and did not show the relations with age, suggesting this cohort may have abnormal refractive growth.

Optic Canal Analysis in Syndromic Craniosynostosis: Volumetric and Surface Area Validation Study Using Different Measurement Modalities.

In syndromic craniosynostosis (SC), unlike persistent corneal irritation due to severe exophthalmos and increased intracranial pressure, optic canal (OC) stenosis has been scarcely reported to cause visual impairment. This study aimed to validate the OC volumetric and surface area measurement among SC patients. Sixteen computed tomography scan of SC patients (8 months-6 years old) were imported to Materialise Interactive Medical Image Control System (MIMICS) and Materialise 3-matics software. Three-dimensional (3D) OC models were fabricated, and linear measurements were obtained. Mathematical formulas were used for calculation of OC volume and surface area from the 3D model. The same measurements were obtained from the software and used as ground truth. Data normality was investigated before statistical analyses were performed. Wilcoxon test was used to validate differences of OC volume and surface area between 3D model and software. The mean values for OC surface area for 3D model and MIMICS software were 103.19 mm2 and 31.27 mm2, respectively, whereas the mean for OC volume for 3D model and MIMICS software were 184.37 mm2 and 147.07 mm2, respectively. Significant difference was found between OC volume (P = 0.0681) and surface area (P = 0.0002) between 3D model and software. Optic canal in SC is not a perfect conical frustum thus making 3D model measurement and mathematical formula for surface area and volume estimation not ideal. Computer software remains the best modality to gauge dimensional parameter and is useful to elucidates the relationship of OC and eye function as well as aiding intervention in SC patients.

Midface Morphology and Growth in Syndromic Craniosynostosis Patients Following Frontofacial Monobloc Distraction.

Facial advancement represents the essence of the surgical treatment of syndromic craniosynostosis. Frontofacial monobloc distraction is an effective surgical approach to correct midface retrusion although someone consider it very hazardous procedure. The authors evaluated a group of patients who underwent frontofacial monobloc distraction with the aim to identify the advancement results performed in immature skeletal regarding the midface morphologic characteristics and its effects on growth. Sixteen patients who underwent frontofacial monobloc distraction with pre- and postsurgical computed tomography (CT) scans were evaluated and compared to a control group of 9 nonsyndromic children with CT scans at 1-year intervals during craniofacial growth. Three-dimensional measurements and superimposition of the CT scans were used to evaluate midface morphologic features and longitudinal changes during the craniofacial growth and following the advancement. Presurgical growth was evaluated in 4 patients and postsurgical growth was evaluated in 9 patients. Syndromic maxillary width and length were reduced and the most obtuse facial angles showed a lack in forward projection of the central portion in these patients. Three-dimensional distances and images superimposition demonstrated the age did not influence the course of abnormal midface growth. The syndromic midface is hypoplastic and the sagittal deficiency is associated to axial facial concavity. The advancement performed in mixed dentition stages allowed the normalization of facial position comparable to nonsyndromic group. However, the procedure was not able to change the abnormal midface architecture and craniofacial growth.