Eyeing Risks: A Critical Analysis of the Use of Periorbital Steroids in Fronto-orbital Advancement.

OBJECTIVE: To evaluate the outcomes associated with two techniques of periorbital steroid administration in bilateral fronto-orbital advancement (FOA). DESIGN: Multi-institutional retrospective chart review. SETTING: Two high volume, tertiary US craniofacial centers. PATIENTS, PARTICIPANTS: Patients who underwent FOA between 2012 and 2021. INTERVENTIONS: Patients were divided into three cohorts based on method of steroid administration. Groups GEL and INJ represent those who received steroids in the form of triamcinolone soaked gelfoam or direct injection of dilute triamcinolone to the frontal/periorbital region, respectively. Group NON did not receive any periorbital steroids. MAIN OUTCOME MEASURE(S): Peri-operative outcomes including hospital length of stay and complications were evaluated based on method of periorbital steroid administration. Variables predictive of infectious complications were assessed using stepwise logistic regression. RESULTS: Four hundred and twelve patients were included in our sample (INJ:249, GEL:87, NON:76). Patients in the INJ group had a higher ASA class (P < .001) while patients in the NON group were significantly more likely to be syndromic (P < .001) and have multisuture craniosynostosis (P < .001). Rate of infectious complications for each cohort were NON: 2.6%, INJ: 4.4%, and GEL: 10.3%. There was no significant difference between groups in hospital length of stay (P = .654) or rate of post-operative infectious complications (P = .061). Increased ASA class (P = .021), increased length of stay (P = .016), and increased intraoperative narcotics (P = .011) were independent predictors of infectious complications. CONCLUSIONS: We identified a dose-dependent relationship between periorbital steroids and rate of postoperative infections, with key contributions from ASA class, hospital length of stay, and dose of intraoperative narcotics.

Management of sagittal synostosis in the Synostosis Research Group: baseline data and early outcomes.

OBJECTIVE: Sagittal synostosis is the most common form of isolated craniosynostosis. Although some centers have reported extensive experience with this condition, most reports have focused on a single center. In 2017, the Synostosis Research Group (SynRG), a multicenter collaborative network, was formed to study craniosynostosis. Here, the authors report their early experience with treating sagittal synostosis in the network. The goals were to describe practice patterns, identify variations, and generate hypotheses for future research. METHODS: All patients with a clinical diagnosis of isolated sagittal synostosis who presented to a SynRG center between March 1, 2017, and October 31, 2019, were included. Follow-up information through October 31, 2020, was included. Data extracted from the prospectively maintained SynRG registry included baseline parameters, surgical adjuncts and techniques, complications prior to discharge, and indications for reoperation. Data analysis was descriptive, using frequencies for categorical variables and means and medians for continuous variables. RESULTS: Two hundred five patients had treatment for sagittal synostosis at 5 different sites. One hundred twenty-six patients were treated with strip craniectomy and 79 patients with total cranial vault remodeling. The most common strip craniectomy was wide craniectomy with parietal wedge osteotomies (44%), and the most common cranial vault remodeling procedure was total vault remodeling without forehead remodeling (63%). Preoperative mean cephalic indices (CIs) were similar between treatment groups: 0.69 for strip craniectomy and 0.68 for cranial vault remodeling. Thirteen percent of patients had other health problems. In the cranial vault cohort, 81% of patients who received tranexamic acid required a transfusion compared with 94% of patients who did not receive tranexamic acid. The rates of complication were low in all treatment groups. Five patients (2%) had an unintended reoperation. The mean change in CI was 0.09 for strip craniectomy and 0.06 for cranial vault remodeling; wide craniectomy resulted in a greater change in CI in the strip craniectomy group. CONCLUSIONS: The baseline severity of scaphocephaly was similar across procedures and sites. Treatment methods varied, but cranial vault remodeling and strip craniectomy both resulted in satisfactory postoperative CIs. Use of tranexamic acid may reduce the need for transfusion in cranial vault cases. The wide craniectomy technique for strip craniectomy seemed to be associated with change in CI. Both findings seem amenable to testing in a randomized controlled trial.

Evaluation of the Patient-Practitioner Consultation on Surgical Treatment Options for Patients With Craniosynostosis.

INTRODUCTION: Endoscope-assisted craniectomy and spring-assisted cranioplasty with post-surgical helmet molding are minimally invasive alternatives to the traditional craniosynostosis treatment of open cranial vault remodeling. Families are often faced with deciding between techniques. This study aimed to understand providers' practice patterns in consulting families about surgical options. METHODS: An online survey was developed and distributed to 31 providers. The response rate was 84% (26/31). RESULTS: Twenty-six (100%) respondents offer a minimally invasive surgical option for sagittal craniosynostosis, 21 (81%) for coronal, 20 (77%) for metopic, 18 (69%) for lambdoid, and 12 (46%) for multi-suture. Social issues considered in determining whether to offer a minimally invasive option include anticipated likelihood of compliance (23 = 88%), distance traveled for care (16 = 62%) and financial considerations (6 = 23%). Common tools to explain options include verbal discussion (25 = 96%), 3D reconstructed CT scans (17 = 65%), handouts (13 = 50%), 3D models (12 = 46%), hand drawings (11 = 42%) and slides (10 = 38%). Some respondents strongly (7 = 27%) or somewhat (3 = 12%) encourage a minimally invasive option over open repair. Others indicate they remain neutral (7 = 27%) or tailor their approach to meet perceived needs (8 = 31%). One (4%) somewhat encourages open repair. Despite this variation, all completely (17 = 65%), strongly (5 = 19%) or somewhat agree (4 = 15%) they use shared decision making in presenting surgical options. CONCLUSION: This survey highlights the range of practice patterns in presenting surgical options to families and reveals possible discrepancies in the extent providers believe they use shared decision making and the extent it is actually used.

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

We report RNA-Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis-related genes. Genetic burden analysis identified a significant increase in damaging variants in ATR, EFNA4, ERF, MEGF8, SCARF2, and TGFBR2. Of 391 participants, 15% were found to have damaging and potentially causal variants in 29 genes. We observed transmission in 96% of the affected individuals, and thus penetrance, epigenetics, and oligogenic factors need to be considered when recommending genetic testing in patients with nonsyndromic craniosynostosis.

Defining and Correcting Asymmetry in Isolated Unilateral Frontosphenoidal Synostosis: Differences in Orbital Shape, Facial Scoliosis, and Skullbase Twist Compared to Unilateral Coronal Synostosis.

INTRODUCTION: Isolated frontosphenoidal synostosis (FS) is a rare cause of fronto-orbital plagiocephaly that can be challenging to distinguish from isolated unicoronal synostosis (UC). The purpose of this paper is to analyze differences in fronto-orbital dysmorphology between the 2 conditions, to describe approaches for surgical correction, and to report surgical outcomes between FS and UC patients in a casecontrol fashion. METHODS: Patients treated for craniosynostosis over a 12-year period at our institution were retrospectively evaluated under institutional review board approval. Frontosphenoidal synostosis patients who underwent bilateral fronto-orbital correction of anterior plagiocephaly with minimum 2-year follow-up, adequate pre-, and minimum 2-year postoperative computed tomography scans were included in the case-control portion of the study. These patients were randomly age-matched to UC patients meeting the same inclusion criteria. Preoperative and postoperative orbital shape and volumetric analysis was performed using Mimics software. RESULTS: Twelve FS patients were treated during the study period. Seven of these patients met casecontrol inclusion criteria with average follow-up of 47.5 months. The characteristic FS orbit was a relatively wide, short, and shallow trapezoid, while the characteristic UC orbit was a relatively narrow, tall, and deep parallelogram. Frontosphenoidal synostosis orbits were significantly wider, shorter, shallower, and smaller than UC orbits. Surgical correction tailored to the differential dysmorphologies resulted in statistical equalization of these differences between affected and contralateral control orbits at follow-up, with the exception of UC orbital width, which remained significantly narrower than unaffected contralateral control. One patient in each group required cranioplasty for skull defects at follow-up, while no patient underwent surgical readvancement. CONCLUSIONS: Frontosphenoidal synostosis and UC orbital shape differ significantly, and can be normalized using fronto-orbital advancement tailored to the distinct orbital dysmorphologies of these 2 groups.

Facial Expressiveness in Infants With and Without Craniofacial Microsomia: Preliminary Findings.

OBJECTIVE: To compare facial expressiveness (FE) of infants with and without craniofacial macrosomia (cases and controls, respectively) and to compare phenotypic variation among cases in relation to FE. DESIGN: Positive and negative affect was elicited in response to standardized emotion inductions, video recorded, and manually coded from video using the Facial Action Coding System for Infants and Young Children. SETTING: Five craniofacial centers: Children's Hospital of Los Angeles, Children's Hospital of Philadelphia, Seattle Children's Hospital, University of Illinois-Chicago, and University of North Carolina-Chapel Hill. PARTICIPANTS: Eighty ethnically diverse 12- to 14-month-old infants. MAIN OUTCOME MEASURES: FE was measured on a frame-by-frame basis as the sum of 9 observed facial action units (AUs) representative of positive and negative affect. RESULTS: FE differed between conditions intended to elicit positive and negative affect (95% confidence interval = 0.09-0.66, P = .01). FE failed to differ between cases and controls (ES = -0.16 to -0.02, P = .47 to .92). Among cases, those with and without mandibular hypoplasia showed similar levels of FE (ES = -0.38 to 0.54, P = .10 to .66). CONCLUSIONS: FE varied between positive and negative affect, and cases and controls responded similarly. Null findings for case/control differences may be attributable to a lower than anticipated prevalence of nerve palsy among cases, the selection of AUs, or the use of manual coding. In future research, we will reexamine group differences using an automated, computer vision approach that can cover a broader range of facial movements and their dynamics.

Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. She also was found to have three novel features: (i) left ventricular non-compaction (LVNC) cardiomyopathy; (ii) microform cleft lip; and (iii) severe hyperopia and astigmatism. These features have implications regarding potential insight into the pathogenesis of the disorder, screening, and medical management. Hypertrophic cardiomyopathy has previously been reported in SMC1A-associated CdLS, but to our knowledge this is the first reported child with LVNC. Previous reports have included children with isolated clefts of the palate without involvement of the lip. When cleft palate alone is associated with a disorder, the underlying pathophysiology for clefting is sometimes secondary due to mechanical blocking of the fusion of the palatal shelves with the developing tongue. The presence of microform cleft lip in this patient suggests that the pathophysiology of clefting in SMC1A is primary rather than secondary. Few studies report ophthalmologic findings specific to SMC1A. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. © 2016 Wiley Periodicals, Inc.

Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.

BACKGROUND: Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features. METHODS: Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires. RESULTS: The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21). CONCLUSION: We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc.

Management of the Repeatedly Failed Cranioplasty Following Large Postdecompressive Craniectomy: Establishing the Efficacy of Staged Free Latissimus Dorsi Transfer/Tissue Expansion/Custom Polyetheretherketone Implant Reconstruction.

BACKGROUND: Postdecompressive craniotomy defect management following failed prior cranioplastyis challenging. The authors describe a staged technique utilizing free muscle transfer, tissue expansion, and custom polyetheretherketone (PEEK) implants for the management of previously failed cranioplasty sites in patients with complicating local factors. METHODS: Consecutive patients with previously failed cranioplasties following large decompressive craniectomies underwent reconstruction of skull and soft tissue defects with staged free latissimus muscle transfer, tissue expansion, and placement of custom computer-aided design and modeling PEEK implants with a 'temporalis-plus' modification to minimize temporal hollowing. Implants were placed in a vascularized pocket at the third stage by elevating a plane between the previously transferred latissimus superficial fascia (left on the skin) and muscle (left on the dura/bone). Patients were evaluated postoperatively for cranioplasty durability, aesthetic outcome, and complications. RESULTS: Six patients with an average of 1.6 previously failed cranioplasties underwent this staged technique. Average age was 33 years. Average defect size was 139 cm. Average time to procedure series completion was 14.9 months. There were no flap failures. One patient had early postoperative incisional dehiscence following PEEK implant placement that was managed by immediate scalp flap readvancement. At 21.9 month average follow-up, there were no cranioplasty failures. Three patients (50%) underwent 4 subsequent refining outpatient procedures. All patients achieved complete coverage of their craniectomy defect site with hear-bearing skin, acceptable head shape, and normalized head contour. CONCLUSIONS: The described technique resulted in aesthetic, durable craniectomy defect reconstruction with retention of native hear-bearing scalp skin in a challenging patient population.

Measuring Symmetry in Children With Unrepaired Cleft Lip: Defining a Standard for the Three-Dimensional Midfacial Reference Plane.

OBJECTIVE: Quantitative measures of facial form to evaluate treatment outcomes for cleft lip (CL) are currently limited. Computer-based analysis of three-dimensional (3D) images provides an opportunity for efficient and objective analysis. The purpose of this study was to define a computer-based standard of identifying the 3D midfacial reference plane of the face in children with unrepaired cleft lip for measurement of facial symmetry. PARTICIPANTS: The 3D images of 50 subjects (35 with unilateral CL, 10 with bilateral CL, five controls) were included in this study. INTERVENTIONS: Five methods of defining a midfacial plane were applied to each image, including two human-based (Direct Placement, Manual Landmark) and three computer-based (Mirror, Deformation, Learning) methods. MAIN OUTCOME MEASURE: Six blinded raters (three cleft surgeons, two craniofacial pediatricians, and one craniofacial researcher) independently ranked and rated the accuracy of the defined planes. RESULTS: Among computer-based methods, the Deformation method performed significantly better than the others. Although human-based methods performed best, there was no significant difference compared with the Deformation method. The average correlation coefficient among raters was .4; however, it was .7 and .9 when the angular difference between planes was greater than 6° and 8°, respectively. CONCLUSIONS: Raters can agree on the 3D midfacial reference plane in children with unrepaired CL using digital surface mesh. The Deformation method performed best among computer-based methods evaluated and can be considered a useful tool to carry out automated measurements of facial symmetry in children with unrepaired cleft lip.

Phenotypic sub-grouping in microtia using a statistical and a clinical approach.

The clinical presentation of microtia varies widely from minimal morphological abnormalities to complete absence of the ear. In this study we sought to identify and characterize sub-groups of microtia using a statistical and a clinical approach. Photographs of 86 ears were classified in relation to all the external ear components. We used cluster analysis and rater's clinical opinion to identify groups with similar phenotypes in two separate analyses. We used Cramer's Phi coefficient of association to assess the similarity among the clinician's groupings as well as among the statistical sub-phenotypic groups and each of the clinician's groupings. The cluster analysis initially divided the 86 ears into a more and a less severe group. The less severe group included two sub-groups that included ears classified as normal and a group that had very few anomalous components. The group of 48 more affected ears all had abnormalities of the helix crus; antihelix-stem, -superior crus and -inferior crus; and antitragus. These were further divided into 4 sub-phenotypes. There was a moderate degree of association among the raters' groupings (Cramer's Phi: 0.64 to 0.73). The statistical and clinical groupings had a lower degree of association (Cramer's Phi: 0.49 to 0.58). Using standardized characterization of structural abnormalities of the ear we identified six distinct phenotypic groups; correlations with clinicians' groupings were moderate. These clusters may represent groups of ear malformations associated with the same etiology, similar time of insult or target cell population during embryonic development. The results will help inform investigations on etiology.

New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis.

The authors present a new and unique pattern of sutural fusion "peace sign synostosis" (PSS) characterized by synostosis of the metopic, bicoronal, and sagittal sutures and associated with abnormalities of the TWIST1 gene known to be associated with Saethre-Chotzen syndrome (SCS). To do so, we performed a retrospective review of patients with bicoronal, metopic, and at least partial anterior sagittal synostoses at the Children's Hospital of Philadelphia and Seattle Children's Hospital. Patients' demographics, genetic analysis, perioperative and clinic notes were reviewed. Five patients were identified with PSS and abnormalities of TWIST1 consistent with SCS. One patient, with the longest follow-up of 7 years, underwent 5 intracranial procedures and required a ventriculoperitoneal (VP) shunt. The remaining 4 patients underwent posterior cranial vault distraction as the initial procedure, followed by anterior cranial vault remodeling. Two patients required a VP shunt. To conclude, synostosis of the metopic, bicoronal, and sagittal sutures (PSS) appears to be associated with SCS and produces a characteristic skull morphology that can be readily identified on physical examination. Early data suggest a high rate of reoperation, increased necessity for a VP shunt, and potential complications. Of note, this novel phenotype had not been previously observed at our respective institutions, reported in the literature, or observed in association with TWIST1 abnormalities as described in association with SCS.

Safety of Open Cranial Vault Surgery for Single-Suture Craniosynostosis: A Case for the Multidisciplinary Team.

INTRODUCTION: Single Suture Craniosynostosis (SSC) occurs in 1 in 2,500 live births and is the most common type of craniosynostosis treated in most centers. Surgical treatment has evolved over the past century and open techniques are tailored to the specific suture type. Additionally, the concept of multi-disciplinary team care has proliferated and is becoming the standard of care for SSC. The combination of these evolutions, we believe, has improved the safety of cranial vault surgery for SSC. METHODS: A retrospective review of patients participating in the Infant Learning Project at Seattle Children's Hospital who underwent cranial vault surgery for treatment of SSC between 2002 and 2006 was performed. Pre-operative assessment, surgical techniques, anesthetic and intraoperative events and both intra-operative and post-operative adverse events were analyzed. RESULTS: Eighty eight patients fulfilled the inclusion criteria (42 sagittal, 23 metopic, 19 unicoronal, 4 lambdoid). Length of procedure varied (FOA 5.2 hrs, modified pi 2.5 hrs, total vault 4.9 hrs and switch cranioplasty 4.6 hrs), as did transfusion amount (FOA 385 mL, modified pi 216 mL, total vault 600 mL, switch cranioplasty 207 mL) although 99% of patients received a transfusion of some sort. There were no deaths and no major intraoperative complications. Minor events include; ET tube malposition (1), desaturation (1), acidosis (1), hypothermia (9), coagulopathy (2), Hct < 25 (55). Average hospital stay was 3.4 days with no major post-operative complications. One patient was readmitted to the ICU and 1 had a scalp hematoma, but no patients returned to the operating room within 6 months after surgery. DISCUSSION: The surgical treatment of SSC has evolved from lengthy, risky procedures to become almost routine at most craniofacial centers. Additionally, the care for patients with SSC has evolved from a single provider to a multidisciplinary team concept based around protocols for workup, delivery of anesthesia, streamlined surgical procedures and post-operative care and assessment. This evolution has given open cranial vault surgery for SSC an acceptable safety profile.

Facial Nerve Pathology in Children.

Facial nerve pathology in children has devastating functional and psychosocial consequences. Facial palsy occurs less commonly in children than adults with a greater proportion caused by congenital causes. Most pediatric patients have normal life expectancy and few comorbidities and dynamic restoration of facial expression is prioritized. This article will focus on the unique aspects of care for facial palsy in the pediatric population.

What to do with an incidental finding of a fused sagittal suture: a modified Delphi study.

OBJECTIVE: As many as 5% of normocephalic children may have a prematurely fused sagittal suture, yet the clinical significance and best course of management of this finding remain unclear. Providers in the Synostosis Research Group were surveyed to create a multicenter consensus on an optimal treatment and monitoring algorithm for this condition. METHODS: A four-round modified Delphi method was utilized. The first two rounds consisted of anonymous surveys distributed to 10 neurosurgeons and 9 plastic surgeons with expertise in craniosynostosis across 9 institutions, and presented 3 patients (aged 3 years, 2 years, and 2 months) with incidentally discovered fused sagittal sutures, normal cephalic indices, and no parietal dysmorphology. Surgeons were queried about their preferred term for this entity and how best to manage these patients. Results were synthesized to create a treatment algorithm. The third and fourth feedback rounds consisted of open discussion of the algorithm until no further concerns arose. RESULTS: Most surgeons preferred the term "premature fusion of the sagittal suture" (93%). At the conclusion of the final round, all surgeons agreed to not operate on the 3- and 2-year-old patients unless symptoms of intracranial hypertension or papilledema were present. In contrast, 50% preferred to operate on the 2-month-old. However, all agreed to utilize shared decision-making, taking into account any concerns about future head shape and neurodevelopment. Panelists agreed that patients over 18 months of age without signs or symptoms suggesting elevated intracranial pressure (ICP) should not undergo surgical treatment. CONCLUSIONS: Through the Delphi method, a consensus regarding management of premature fusion of the sagittal suture was obtained from a panel of North American craniofacial surgeons. Without signs or symptoms of ICP elevation, surgery is not recommended in patients over 18 months of age. However, for children younger than 18 months, surgery should be discussed with caregivers using a shared decision-making process.

Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia.

The Elements of Morphology Standard Terminology working group published standardized definitions for external ear morphology. The primary objective of our study was to use these descriptions to evaluate the interrater reliability for specific features associated with microtia. We invited six raters from three different subspecialities to rate 100 ear photographs on 32 features. We calculated overall and within specialty and professional experience intraclass correlation coefficients (ICC) and 95% confidence intervals. A total of 600 possible observations were recorded for each feature. The overall interrater reliability ranged from 0.04 (95% CI: 0.00-0.14) for the width of the antihelix inferior crus to 0.93 (95% CI: 0.91-0.95) for the presence of the inferior crux of the antihelix. The reliability for quantitative characteristics such as length or width of an ear structure was generally lower than the reliability for qualitative characteristics (e.g., presence or absence of an ear structure). Categories with very poor interrater reliability included anti-helix inferior crux width (0.04, 95% CI: 0.00-0.14), crux helix extension (0.17, 95% CI 0.00-0.37), and shape of the incisura (0.14, 95% CI: 0.01-0.27). There were no significant differences in reliability estimates by specialty or professional experience for most variables. Our study showed that it is feasible to systematically characterize many of structures of the ear that are affected in microtia. We incorporated these descriptions into a standardized phenotypic assessment tool (PAT-Microtia) that might be used in multicenter research studies to identify sub-phenotypes for future studies of microtia.

Making the diagnosis: metopic ridge versus metopic craniosynostosis.

INTRODUCTION: The metopic suture is the only calvarial suture which normally closes during infancy. Upon closure, a palpable and visible ridge often forms which can be confused with metopic craniosynostosis. Metopic ridging (MR) is treated nonsurgically while metopic craniosynostosis (MCS) is treated surgically. Differentiating between the two is paramount; however, consensus is lacking about where a clear diagnostic threshold lies. The goal of this study is to describe the physical examination and CT scan characteristics which may help to differentiate between physiological closure of the metopic suture with ridging (MR) and MCS. METHODS: A retrospective chart review of all patients seen at Seattle Children's Hospital between 2004 and 2009 with the diagnosis of either MCS or MR (n = 282) was performed. Physical examination characteristics described by diagnosing practitioners were analyzed. Clinical photos were assessed by 3 expert raters to determine the importance of these characteristics. CT scan findings were abstracted and compared between the two diagnoses. RESULTS: The "classic" triad of narrow forehead, biparietal widening, and hypotelorism was present in only 14% of patients with MCS. Ninety-eight percent of patients in both groups had a palpable metopic ridge. The photographic finding of narrow forehead and pterional constriction was present in all patients with MCS, but only in 11.2% and 2.8% of patients with MR. On CT scan, the presence of 3 or more MCS findings was diagnostic of MCS in 96% of patients. Patients with MCS were more likely to present before 6 months of age (66% vs. 32%). CONCLUSIONS: Patients with MCS tend to present earlier than those with MR. Upon physical examination, the relationship between the lateral frontal bone and the lateral orbit is important in distinguishing between the two diagnoses. A CT scan can be helpful in making the diagnosis not to confirm a closed suture but to identify 3 or more MCS characteristics.

Laypersons' ratings of appearance in children with and without single-suture craniosynostosis.

BACKGROUND: Single-suture craniosynostosis (SSC) results in head shape anomalies that likely affect social perceptions of appearance. The purpose of this study was to evaluate laypersons' ratings of attractiveness in children with and without SSC. Among cases, we also examined differences by suture fused and age at surgery. METHODS: We collected photographs of 196 children with SSC and 186 children without SSC as infants (before surgery, for cases) and at ages 18 and 36 months. Photographs were rated by 8 raters, who were blinded to the population being studied. We used linear regression to compare appearance ratings for the 2 groups at each visit and to evaluate changes over time. Regression analyses were used to examine the association between age at surgery and appearance ratings. RESULTS: Children with SSC received lower appearance ratings than unaffected controls at each visit (all P < 0.001). Appearance ratings decreased over time, with a similar trajectory for children with and without SSC. Among cases, those with unicoronal and lambdoid synostosis had the lowest ratings and those with sagittal synostosis had the highest. Age at surgery was inversely associated with appearance ratings. CONCLUSIONS: Children with SSC received lower appearance ratings than unaffected controls, with minimal change after surgery. Better outcomes were associated with earlier surgery. These findings do not indicate that children with SSC failed to benefit from surgery, as without surgical intervention, asymmetrical head shape would likely have worsened over time. However, our data suggest that appearance does not fully "normalize."

Comparison of two-dimensional and three-dimensional images for phenotypic assessment of craniofacial microsomia.

Background and Purpose : Three-dimensional surface imaging is used in many craniofacial centers. However, few data exist to indicate whether such systems justify their cost. Craniofacial microsomia is associated with wide phenotypic variability and can affect most facial features. The purpose of this study is to compare three-dimensional versus two-dimensional images for classification of facial features in individuals with craniofacial microsomia. Methods : We obtained a series of two-dimensional and three-dimensional images of 50 participants, aged 0-20 years, diagnosed with craniofacial microsomia, microtia, or Goldenhar syndrome. Three clinicians classified the craniofacial features on each image, and ratings were compared by calculating kappa statistics. We also evaluated image quality using a 5-point Likert scale. Results : Reliability estimates were high for most features using both two-dimensional and three-dimensional image data. Our three-dimensional protocol did not allow for scoring of facial animation, occlusal cant, or tongue anomalies. Image quality scores for the mandible and soft tissue assessment were higher for three-dimensional images. Raters preferred two-dimensional photographs for assessment of the ear, ear canal, and eyes. Conclusions : Both three-dimensional and two-dimensional images provide useful data for objective characterization of the craniofacial features affected in craniofacial microsomia. A series of two-dimensional images has relative advantages for assessment of some specific features, such as the ear, though three-dimensional images may have advantages for quantitative analysis and qualitative assessment of deformities of the jaw and soft tissue. These results should apply to any assessment of these features with or without a craniofacial microsomia diagnosis.

Pediatric Panfacial Fractures.

Pediatric panfacial trauma is a rare occurrence with poorly understood implications for the growing child. Treatment algorithms largely mirror adult panfacial protocols with notable exceptions including augmented healing and remodeling capacities that favor nonoperative management, limited exposure to avoid disruption of osseous suture and synchondroses growth centers, and creative fracture fixation techniques in the setting of an immature craniomaxillofacial skeleton. The following article provides a review of our institutional philosophy in the management of these challenges injuries with important anatomic, epidemiologic, examination, sequencing, and postoperative considerations.