Long-Term Surgical Outcomes of Primary Rhinoplasty.

OBJECTIVE: To examine the impact of primary rhinoplasty on subsequent rhinoplasties for patients with cleft lip nasal deformity. DESIGN: Retrospective cohort study. SETTING: Tertiary care pediatric hospital. PATIENTS/PARTICIPANTS: Individuals who underwent definitive cleft lip repair at our institution from 2000 to 2006 with a current age of 18 or older. MAIN OUTCOME MEASURES: Number and timing of subsequent rhinoplasties. RESULTS: Among 199 individuals, 94 (47.2%) underwent primary rhinoplasty. Follow-up was 15.0 ± 4.8 years in the PR cohort and 15.0 ± 5.1 years in the NPR cohort (p = 0.993). In bilateral cleft lip, interdomal suture predicted fewer subsequent rhinoplasties (ß=-0.310, p = 0.033), while history of primary rhinoplasty predicted greater age at subsequent rhinoplasty (ß=1.800, p = 0.040). Among individuals with follow-up beyond age 18, intranasal stenting predicted fewer subsequent rhinoplasties (ß=-0.609, p = 0.015). Most underwent subsequent nasal correction aside from 7 (19.4%) and 9 (20.9%) in the PR and NPR cohorts, respectively (p = 0.536). There was no difference in mean subsequent rhinoplasties between cohorts (1.1 ± 0.8 versus 1.3 ± 1.1, p = 0.284). Individuals with complete cleft lip underwent more lifetime rhinoplasties (1.9 ± 1.0 versus 1.2 ± 1.2, p = 0.007). CONCLUSIONS: Primary rhinoplasty with interdomal tip sutures in bilateral cleft lip was associated with fewer subsequent rhinoplasties. Primary rhinoplasty may delay subsequent nasal correction, though most who underwent primary rhinoplasty ultimately required nasal correction later in childhood. Postoperative nasal stenting may provide longer-term nasal benefits and should be considered at time of definitive cleft lip repair.

Patient Reported Outcomes in Patients with Cleft Lip and/or Palate Help Identify Youth at Risk for Suicidality.

OBJECTIVE: To identify associations between scores on the CLEFT-Q and Columbia-Suicide Severity Rating Scale (C-SSRS) Lifetime Version in patients with cleft lip and/or palate (CLP). DESIGN: Prospective. SETTING: Tertiary care center. PATIENTS, PARTICIPANTS: Patients ages six and older administered both the CLEFT-Q questionnaire and C-SSRS survey between 2019 and 2024. INTERVENTIONS: Multidisciplinary care coordination facilitated by the team psychologist. MAIN OUTCOME MEASURE(S): Associations among demographics, CLEFT-Q responses, and suicidality. RESULTS: A total of 305 patients were included, 141 females (46.2%) and 164 males (53.8%). Fifty-one (16.7%) endorsed lifetime incidence of suicidal ideation, four (1.3%) endorsed suicidal behavior, 12 (3.9%) endorsed non-suicidal self-injury (NSSI), and one (0.3%) endorsed self-injurious behavior, intent unknown. Patients endorsing suicidal ideation had lower PROs in 12/13 categories on the CLEFT-Q questionnaire (p < 0.001). Those with suicidal behavior had lower PROs in three health-related quality of life categories (psychological function, p = 0.018; social function, p = 0.005; school function, p = 0.007), but no difference in other domains. A cutoff of ≤70 in the CLEFT-Q psychological function domain identified suicidal ideation with 72.9% sensitivity and 65.9% specificity and suicidal behavior with 100.0% sensitivity and 62.2% specificity. CONCLUSIONS: Patients with cleft lip and/or palate have increased risks for psychosocial challenges that are often missed by healthcare providers. This study reveals that patient-reported outcomes are worse in those with CLP who endorsed suicidal ideation and behavior. Low PRO responses identify suicidality with moderate sensitivity and specificity. Patients with low scores should be offered safety screenings and psychosocial support, ideally by mental healthcare professionals.

Long-term photogrammetric outcomes of midface advancement in Apert syndrome: are we nearing normal?

BACKGROUND: The aesthetic goals of midface surgery in Apert syndrome are to correct the multi-planar midface deficiency and normalize facial ratios. This study characterizes the long-term photogrammetric outcomes of midface advancement in Apert syndrome. METHODS: Patients with Apert syndrome who underwent midface distraction from 2000 to 2023 were retrospectively reviewed. Soft tissue measurements were applied to preoperative (T0), short-term postoperative (T1), and long-term postoperative (T2) photographs. Long-term changes were compared between subcranial and transcranial procedures, segmental and non-segmental osteotomies, and individual techniques. Frontal facial dimensions at time T2 were compared to age- and sex-matched normal controls from the NIMH-ChEFS face database. RESULTS: Twenty patients had postoperative follow-up of T1 = 0.6 ± 0.4 and T2 = 4.7 ± 1.1 years and were compared to 40 normal controls. From time T0 to T2, middle facial third height increased (26.1 ± 3.0% to 27.8 ± 2.6%, p = 0.026), canthal tilt improved (- 7.6° ± 3.7° to - 3.9° ± 4.4°, p < 0.001), and facial convexity increased (182.9° ± 6.2° to 167.9° ± 8.6°, p < 0.001). From time T1 to T2, facial convexity flattened (159.4° ± 10.1° to 167.9° ± 8.6°, p < 0.001). Compared to controls, patients at time T2 had shorter middle facial third height (27.8 ± 2.6% vs. 32.0 ± 1.9%, p < 0.001) and reverse canthal tilt (- 3.9° ± 4.4° vs. 5.4° ± 2.6°, p < 0.001). CONCLUSIONS: A tailored treatment approach to the Apert midface yields varying degrees of resolution of central midfacial shortening, canthal tilt, and facial concavity at 5 years postoperatively. A slight reduction in facial convexity over time, likely reflecting pseudorelapse in the setting of sagittal overcorrection, should be anticipated. Greater utilization of segmental osteotomies may bring facial third ratios and canthal tilt closer to normal morphometric values.

A coddling of the sagittal suture: inequality in spring-assisted expansion.

PURPOSE: We examined differences in long-term morphometric outcomes of spring-mediated cranioplasty (SMC) for various forms of isolated nonsyndromic sagittal craniosynostosis. METHODS: A retrospective review was performed of children who underwent SMC from 2011 to 2020 at the Children's Hospital of Philadelphia. Cephalic indices (CI), Whitaker grades, parietal bone thickness, and degree of suture fusion were assessed. Frontal bossing and vertex-nasion-opisthocranion (VNO) angles were compared to a normal control group. RESULTS: Fifty-four subjects underwent surgery at age 3.6 ± 1.0 months with follow-up of 6.3 ± 1.8 years. Mean CI was 75.2 ± 4.1 at 5.9 ± 2.0 years postoperatively. Mean CI were 75.8 ± 4.1 (n = 32), 76.4 ± 4.0 (n = 22), and 77.1 ± 4.8 (n = 11) at 5, 7, and 9+ years postoperatively, respectively. Three (5.6%) required reoperation for persistent scaphocephalic cranial deformity. Fifty-one (94.4%) were Whitaker Grade I. On physical examination, 12 (22.2%) demonstrated craniofacial abnormalities. At long-term follow-up, there were no differences in frontal bossing angle (102.7 ± 5.2 degrees versus 100.7 ± 5.6 degrees, p = .052) and VNO angle (44.9 ± 3.3 degrees versus 43.9 ± 2.2 degrees, p = .063) between study and control groups. Younger age at surgery predicted a lower Whitaker grade, more normalized VNO angle, and greater change in CI during active expansion. Increased percentage fused of the posterior sagittal suture predicted a higher Whitaker grade, while decreased anterior fusion was associated with frontal bossing and temporal hollowing. CONCLUSIONS: Overall, children undergoing spring-mediated cranioplasty for sagittal craniosynostosis demonstrated maintenance of CI, favorable cosmetic outcomes, and a low reoperation rate at mid-term follow-up. Early intervention is associated with improved aesthetic outcomes, and regional fusion patterns may influence long-term craniofacial dysmorphology.

Long-term outcomes of nonsyndromic isolated unilateral lambdoid craniosynostosis.

This study combined qualitative and quantitative approaches to evaluate outcomes of isolated nonsyndromic unilateral lambdoid synostosis at the Children's Hospital of Philadelphia. Volumetric, linear, and angular analyses were performed on long-term postoperative and normal control scans. Preoperative and postoperative clinical photographs were evaluated for the presence of dysmorphic frontofacial features. Among 26 included patients, median age of surgery was 10 months and mean postoperative follow-up was 5.9 ± 5.7 years. Two (7.7%) patients underwent secondary cranial vault procedures. At most recent follow-up, 2 (7.7%) subjects reported intermittent headaches. Twenty (90.9%) of 22 patients were assigned Whitaker grade I. Among 9 subjects with long-term imaging at age 11.5 ± 5.3, posterior vault asymmetry, posterior fossa deflection angle, cranial base angle, and ear position asymmetry all remained greater than in the control group. Of subjects included in the frontofacial feature analysis (n = 10), 50% had resolution of all dysmorphic frontofacial features present preoperatively. Overall, most subjects who underwent PVR did not require revisional surgery and had good outcomes both aesthetically and functionally. Despite residual abnormalities in the cranial base and posterior vault, most had resolution of parietal bossing and facial scoliosis. Ear position asymmetry was the most common dysmorphic feature at long-term follow-up.

Changes in Ventricular Volume After Posterior Vault Distraction Osteogenesis in Patients With Syndromic and Nonsyndromic Craniosynostosis.

OBJECTIVE: Little is known about the response of the ventricular system to cranial vault surgery in patients with craniosynostosis. This study aims to evaluate the changes in the cerebral ventricular system in response to posterior vault distraction osteogenesis (PVDO) in patients with syndromic and nonsyndromic craniosynostosis. METHODS: A single-institution retrospective review of all patients with craniosynostosis undergoing PVDO from 2000 to 2022 was completed. Patients were included for analysis if they had pre and postoperative cranial computed tomography scans. Ventricular volume (VV) and intracranial volume (ICV) were calculated using segmentation software. RESULTS: Both patients with syndromic synostosis and nonsyndromic synostosis (NSS) experienced a significant increase in ICV after PVDO, but only patients with NSS experienced a significant VV change (P = 0.004). After normalization by ICV, total, lateral, and third VV changes retained significance with percentage increases of 114%, 117%, and 89%, respectively (P < 0.05 for all). CONCLUSION: The differing results between cohorts reinforce the concept that the intracranial milieu is different between patients with syndromic synostosis and NSS. The results of the NSS cohort suggest that these patients may exist in a compensated state in which a reduction in cerebral blood flow and VV allows for the maintenance of parenchymal health to prevent the development of intracranial hypertension. Further studies may explore VV as a surrogate marker of ICP elevation, and the utility of cranial vault remodeling on nonsynostotic pathologies with cephalocranial disproportion.

Optic Nerve Sheath Diameter on Computed Tomography Scans Reflects Elevated Intracranial Pressure in Patients with Craniosynostosis.

INTRODUCTION: Assessment for elevated intracranial pressure (ICP) helps guide interventional decision-making to treat craniosynostosis. However, non-invasive techniques for measuring ICP are limited. This study assesses whether optic nerve sheath diameter (ONSD) on low-dose computed tomography (CT) scans is associated with ICP in patients with craniosynostosis. METHODS: Pediatric patients treated between 2014 and 2023 with craniosynostosis, intraoperative ICP measurements by direct subdural catheterization, and spectral domain-optical coherent tomography (SD-OCT) data were included. ONSD was retrospectively assessed on pre-operative CT scans by a masked neuroradiologist and compared to measures and proxies of ICP. RESULTS: Among 132 patients included, median age was 6.9 years (IQR 4.7-9.5) and 41 (31.1%) had a syndromic diagnosis. Maximum ONSD (ONSDmax) was increased in patients with ICP≥15mmHg (6.1mm vs. 5.5mm, p<0.01) and ICP≥20mmHg (6.3mm vs. 5.6mm, p<0.01). Maximum (r=0.32, p<0.001), minimum (r=0.26, p=0.003), and average (r=0.29, p<0.001) ONSD correlated with direct ICP measurements. ONSD and SD-OCT measurements were also correlated (RNFLmax: r=0.21, p=0.04; RTmax: r=0.24, p=0.02). An ONSDmax threshold of 5.75mm demonstrated 65% sensitivity and 64% specificity for detecting ICP≥15mmHg on optimized receiver operating characteristic curve analysis. Multivariable logistic regression generated an algorithm incorporating ONSDmax and age to detect ICP≥20mmHg with 64% sensitivity and 80% specificity. CONCLUSION: Optic nerve sheath diameter measured in low-dose CT scans detects elevated intracranial pressure with moderate accuracy, and precision increases when patient age is taken into consideration. Given the ease of accessing CT scan data, this may be a helpful ICP proxy for clinical decision-making.

Using A Disentangled Neural Network to Objectively Assess the Outcomes of Midfacial Surgery in Syndromic Craniosynostosis.

BACKGROUND: Advancements in artificial intelligence and the development of shape models that quantify normal head shape and facial morphology provide frameworks by which the outcomes of craniofacial surgery can be compared. In this work, we will demonstrate the use of the Swap Disentangled Variational Autoencoder (SD-VAE) to objectively assess changes following midfacial surgery. MATERIALS AND METHODS: Our model is trained on a dataset of 1405 3D meshes of healthy and syndromic patients which was augmented using a technique based on spectral interpolation. Patients with a diagnosis of Apert and Crouzon syndrome who had undergone sub- or trans-cranial midfacial procedures utilising rigid external distraction were then interpreted using this model as the point of comparison. RESULTS: A total of 56 patients met our inclusion criteria, 20 with Apert and 36 with Crouzon syndrome. By using linear discriminant analysis to project the high-dimensional vectors derived by SD-VAE onto a 2D space, the shape properties of Apert and Crouzon syndrome can be visualised in relation to the healthy population. In this way, we are able to show how surgery elicits global shape changes in each patient. To assess the regional movements achieved during surgery, we use a novel metric derived from the Malahanobis distance to quantify movements through the latent space. CONCLUSION: Objective outcome evaluation, which encourages in-depth analysis and enhances decision making, is essential for the progression of surgical practice. We have demonstrated how artificial intelligence has the ability to improve our understanding of surgery and its effect on craniofacial morphology.

Genetic Heterogeneity, Craniofacial Surgical Burden, and Surgical Techniques in Patients With Saethre-Chotzen Syndrome.

OBJECTIVE: While genotype correlates with phenotype in patients with many forms of syndromic craniosynostosis, the relationship between molecular diagnosis and craniofacial surgical history in patients with Saethre-Chotzen syndrome (SCS) is more variable. This manuscript characterizes that relationship and evaluates operative trends in these patients over the past 3 decades. METHODS: Demographic information, molecular diagnosis, and craniofacial surgical history in patients born with SCS between 1989 and 2023 were compared with appropriate statistics, including t tests and analysis of variance. RESULTS: Thirty-five patients with SCS were included, and there was no difference in total craniofacial procedures among those with TWIST1 substitutions (2.1 ± 1.6), duplications (3.0 ± 4.2), insertions (3.5 ± 0.7), or deletions (2.4 ± 1.9; P = 0.97). Cranial expansion rates were also similar across all genetic diagnoses (P>0.05), and surgical incidence was similar across patients with unicoronal, bicoronal, and multisuture involvement (P > 0.05). Those with an initial fronto-orbital advancement had a lower incidence of secondary cranial vault procedures compared with those with an initial posterior vault distraction osteogenesis (29% versus 71%, P < 0.05), though this did not control for phenotypic severity. On average, total cranial vault surgical burden (1.35 ± 0.67 versus 1.75 ± 0.46) and cranial expansion surgical burden (1.40 ± 0.68 versus 1.88 ± 0.64) between the fronto-orbital advancement-first and posterior vault distraction osteogenesis-first cohorts were similar (P = 0.11, P = 0.17, respectively). CONCLUSION: While SCS is molecularly and phenotypically heterogeneous, genetic diagnosis does not appear associated with rates of craniofacial surgery. Additional prospective study of correlations between genotype, severity of craniofacial manifestations, and treatment algorithms is warranted; but, in the end, it may be that this highly variable form of syndromic craniosynostosis warrants tailored, expectant management.

Mystery of the Muenke midface: spheno-occipital synchondrosis fusion and craniofacial skeletal patterns.

PURPOSE: The spheno-occipital synchondrosis (SOS) is an important site of endochondral ossification in the cranial base that closes prematurely in Apert, Crouzon, and Pfeiffer syndromes, which contributes to varying degrees of midface hypoplasia. The facial dysmorphology of Muenke syndrome, in contrast, is less severe with low rates of midface hypoplasia. We thus evaluated the timing of SOS fusion and cephalometric landmarks in patients with Muenke syndrome compared to normal controls. METHODS: Patients with Muenke syndrome who had at least one fine-cut head computed tomography scan performed from 2000 to 2020 were retrospectively reviewed. A case-control study was performed of patient scans and age- and sex-matched control scans. SOS fusion status was evaluated as open, partially closed, or closed. RESULTS: We included 28 patients and compared 77 patient scans with 77 control scans. Kaplan-Meier analysis demonstrated an insignificantly earlier timeline of SOS fusion in Muenke syndrome (p = 0.300). Mean sella-orbitale (SO) distance was shorter (44.0 ± 6.6 vs. 47.7 ± 6.7 mm, p < 0.001) and mean sella-nasion-Frankfort horizontal (SN-FH) angle was greater (12.1° ± 3.8° vs. 10.1° ± 3.2°, p < 0.001) in the Muenke group, whereas mean sella-nasion-A point (SNA) angle was similar and normal (81.1° ± 5.7° vs. 81.4° ± 4.7°, p = 0.762). CONCLUSION: Muenke syndrome is characterized by mild and often absent midfacial hypoplasia, with the exception of slight retropositioning of the infraorbital rim. Interestingly, SOS fusion patterns in these patients are not significantly different from age- and sex-matched controls despite an increased odds of fusion. It is possible that differences in timing of SOS fusion may manifest phenotypically at the infraorbital rim rather than at the maxilla.

Radiographic severity is associated with worse executive function in metopic craniosynostosis.

BACKGROUND: Children with metopic synostosis have been found to have more neurocognitive and behavioral difficulties. The variables that may affect future neurodevelopmental outcomes, including presenting morphologic severity, have not been fully studied. In the largest study to date, we aimed to assess what portends worse neurocognitive and behavioral outcomes at school age. METHODS: Children 6-18 years old with surgically corrected metopic nonsyndromic craniosynostosis underwent neurocognitive testing. Parents completed behavior rating surveys about their child: Conners-3 (ADHD), Social Responsiveness Scale-2 (autism spectrum disorder), Behavior Rating Inventory of Executive Function-2 (BRIEF-2: executive function), and Child's Behavior Checklist (overall behavior). The endocranial bifrontal angle (EBA), adjusted EBA (aEBA), frontal angle (FA), and AI-derived metopic severity score (MSS) were determined on pre-operative CT images. Multivariate linear regressions were used to evaluate the association of age at surgery and severity. RESULTS: There were 87 children who underwent neurocognitive testing (average age 10.9 ± 3.3 years) of whom 67 also completed behavioral assessments. Greater phenotypical severity of metopic synostosis (lower FA, aEBA, and EBA) was associated with worse scores on the subscales of the BRIEF-2 (executive function) and executive subscale of the Conners-3. Increasing age at surgery was associated with worse executive function subscale scores of the Conners-3 when controlling for each severity measurement and sociodemographic risk. CONCLUSION: Children with greater phenotypic severity of metopic synostosis have worse executive function at school age. The majority of children with metopic synostosis have signs of ADHD. Later surgeries (greater than 12 months) may impact executive functioning, regardless of the degree of severity. Future research should aim at identifying the direct structural changes to the brain.

Vaulting further: cranial vault expansion for craniocerebral disproportion without primary craniosynostosis.

PURPOSE: Treatment of subjects with refractory idiopathic intracranial hypertension (IIH) or shunted hydrocephalus with chronic shunt complications is challenging. What is the role for cranial vault expansion, particularly utilizing posterior vault distraction osteogenesis (PVDO), in these cases? This study assesses medium-term efficacy of cranial vault expansion in this unique patient population. METHODS: A retrospective review was conducted of patients who underwent cranial vault expansion from 2008 to 2023 at the Children's Hospital of Philadelphia. Subjects who did not have a diagnosis of primary craniosynostosis were included in the study. Demographic information, medical history, and perioperative details were collected from medical records. Primary outcomes were the rate of CSF diversion procedures and resolution of presenting signs and symptoms. Secondary outcomes were perioperative and 90-day complications and reoperation requirement. RESULTS: Among 13 included subjects, nine (69.2%) patients had a primary diagnosis of shunted hydrocephalus and 4 (30.8%) patients had IIH. Twelve (92.3%) subjects underwent posterior vault distraction osteogenesis (PVDO) and one (7.7%) underwent posterior vault remodeling (PVR). All 4 patients with IIH demonstrated symptomatic improvement following PVDO, including resolution of headaches, vomiting, and/or papilledema. Among 9 patients with shunted hydrocephalus, CSF diversion requirement decreased from 2.7 ± 1.6 procedures per year preoperatively to 1.2 ± 1.8 per year following cranial vault expansion (p = 0.030). The mean postoperative follow-up was 4.1 ± 2.1 years and four (30.8%) patients experienced complications within 90 days of surgery, including infection (n = 2), CSF leak (n = 1), and elevated ICP requiring lumbar puncture (n = 1). Four (30.8%) patients underwent repeat cranial vault expansion for recurrence of ICP-related symptoms. At most recent follow-up, 7 of 9 patients with shunted hydrocephalus demonstrated symptomatic improvement. CONCLUSION: Cranial vault expansion reduced intracranial hypertension-related symptomology as well as the rate of CSF diversion-related procedures in patients with refractory IIH and shunted hydrocephalus without craniosynostosis, and should be considered in those who have significant shunt morbidity.

Early posterior vault distraction osteogenesis changes the syndromic craniosynostosis treatment paradigm: long-term outcomes of a 23-year cohort study.

BACKGROUND: Early surgical management of syndromic craniosynostosis varies widely between centers, with patients typically undergoing multiple intracranial procedures through childhood. This study evaluates the long-term impact of early posterior vault distraction osteogenesis (PVDO) versus conventional treatment paradigms on the number and timing of subsequent craniofacial procedures. METHODS: We retrospectively analyzed the longitudinal operative patterns of patients with syndromic craniosynostosis treated from 2000 to 2023 with greater than five years of follow-up. Outcomes of patients who underwent early PVDO and conventional vault reconstruction were compared. RESULTS: Fifty-five patients met the inclusion criteria (30 PVDO and 25 conventional). Age at initial vault surgery was similar between the PVDO and conventional cohorts (7.6 vs. 8.8 months), as were baseline craniometrics (p > 0.05). Multiple fronto-orbital advancement (FOA) procedures were performed in only 1/30 (3%) PVDO-treated patient versus 12/25 (48%) conventionally-treated patients (p < 0.001). Twelve (40%) PVDO-treated patients did not undergo FOA at all. Among patients with Apert and Crouzon syndromes, fewer PVDO-treated patients required FOA prior to midface surgery (33% vs. 92%, p = 0.004) or repeat FOA (6% vs. 50%, p = 0.005) compared to conventionally-treated patients. Among patients with Muenke and Saethre-Chotzen syndromes, a similar proportion of patients required FOA in the PVDO and conventional cohorts (91% vs. 100%, p = 0.353), though no PVDO-treated patients required repeat FOA (0% vs. 44%, p = 0.018). CONCLUSIONS: Early PVDO is associated with a reduction in the high burden of both FOA and, critically, revisionary frontal procedures which are commonly seen in conventionally-treated patients with syndromic craniosynostosis.

The Expanded Forehead Flap for Resurfacing of Multi-unit Congenital Nevi of the Face.

The forehead flap is a timeless and robust reconstructive option for complex facial defects. In accordance with aesthetic subunit principles, it has traditionally been used to resurface defects affecting a single cervicofacial region, most commonly the nose or periorbital unit. In this article, we present three cases of congenital nevi treated with expanded forehead flap reconstruction of the nasal, periorbital, and cheek units in early childhood. This series demonstrates an approach that, while violating facial units, limits total scar burden and optimizes aesthetic and functional results. With precise staging and execution, this reconstructive technique allows for a single flap to resurface multi-unit defects in the pediatric population with excellent long-term results.

Periorbital Outcomes and Vision Risk Stratification in Treacher Collins Syndrome.

BACKGROUND: We examined ophthalmologic outcomes and periorbital management in patients with Treacher Collins syndrome (TCS). METHODS: A retrospective cohort study was performed of children with TCS treated from 2009 to 2023 at our center. Demographics and medical history were collected. Primary outcomes were periorbital findings, surgical burden, and visual acuity. Patients were stratified by risk of vision loss based on ophthalmologic findings. RESULTS: Among 50 subjects, mean follow-up was 10.5±5.9 years. Periorbital findings included downslanting palpebral fissures (100%), eyelash deficiency (70%), eyelid coloboma (54%), and significant refractive error (50%). Twenty (40%) individuals underwent 86 periorbital procedures, including lateral canthopexy (n=23 operations) and malar/zygomatic reconstruction/augmentation (n=20). Lateral canthopexies accompanied by malar fat grafting were less likely to require reoperation (0% versus 72%, p=0.004). Subjects with eyelid coloboma were more likely to have exposure keratopathy (30% versus 4%, p=0.020). Grouped by risk of vision loss, 58% were "High" risk, 18% were "Moderate", and 24% were "Low". Among 78 eyes of 39 subjects, vision was "Good" in 90%, "Fair" in 5%, and "Poor" in 6%. Vision risk grading was associated with visual acuity outcomes (n=29) (p=0.050). CONCLUSIONS: In assessing long-term ophthalmological outcomes, we noted good vision despite significant periorbital anomalies. Though most eyelid colobomas can be managed with lubrication, those threatening corneal integrity should be repaired in infancy. As timely intervention may prevent visual impairment, we recommend perinatal ophthalmologist evaluation for all children with TCS. Our proposed vision risk scale may serve as a helpful paradigm by which to contemplate vision-related issues.

Lacrimal Obstruction in Craniosynostosis: Anatomical and Genetic Risk Factors.

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

Validating the Supraorbital Notch-Nasion-Supraorbital Notch Angle as a Marker for Metopic Craniosynostosis Severity.

OBJECTIVE: Metopic craniosynostosis (MCS) can be difficult to differentiate from metopic ridge (MR) or normal frontal morphology. This study assess whether the supraorbital notch-nasion-supraorbital notch (SNS) angle can help identify MCS. METHODS: Records of 212 patients with preoperative three-dimensional computed tomography scans were examined. The SNS angles, surgeon craniofacial dysmorphology rankings, and CranioRate metopic severity scores (MSSs) were compared with the Spearman rank correlation coefficient. Receiver operating characteristic (ROC) curves with Youden J-statistic and cross-validation of regression models assessed the ability of these measures to predict surgery. RESULTS: A total of 212 patients were included, consisting of 78 MCS, 37 MR, and 97 controls. Both the mean SNS angle (MCS: 111.7 ± 10.7 degrees, MR: 126.0 ± 8.2 degrees, controls: 130.7 ± 8.8 degrees P < 0.001) and MSS (MCS: 5.9 ± 2.0, MR: 1.4 ± 1.9, controls: 0.2 ± 1.9, P < 0.001) were different among the cohorts. The mean SNS angle (111.5 ± 10.7 versus 129.1 ± 8.8, P < 0.001) was lower in those who had surgery and CranioRate score (5.9 ± 2.1 versus 0.8 ± 2.2, P < 0.001) was higher in those who underwent surgery. SNS angles were positively correlated with surgeon craniofacial dysmorphology rankings ( r = 0.41, P < 0.05) and CranioRate MSS ( r = 0.54, P < 0.05). The ROC curve requiring high sensitivity revealed an SNS angle of 124.8 degrees predicted surgery with a sensitivity of 88.7% and a specificity of 71.3%. A ROC curve using the CranioRate MCC values ≥3.19 predicted surgery with 88.7% sensitivity and 94.7% specificity. CONCLUSION: Orbital dysmorphology in patients with MCS is well captured by the supraorbital-nasion angle. Both the SNS angle and CranioRate MSS scores accurately predict surgical intervention.

A critical eye on metopic craniosynostosis: A retrospective study assessing orbital dysmorphology as a marker of disease.

This investigation sought to ascertain whether orbital morphology could predict genuine metopic craniosynostosis (MCS). The study retrospectively analyzed preoperative three-dimensional computed tomography (3D-CT) scans of patients who underwent surgical correction for MCS. MCS severity was evaluated using the interfrontal angle (IFA). Orbital dysmorphology was assessed based on multiple angles, including supraorbital notches and nasion (SNS), infraorbital foramina and nasion (INI), zygomaticofrontal suture-supraorbital notch-dacryon (ZSD), and orbital long axis (OLA). Results were juxtaposed against age/gender-matched controls and individuals with non-synostotic metopic ridge (MR). The study included 177 patients: 68 MCS, 35 MR, and 74 control subjects. All orbital measurements exhibited significant differences across groups. IFA demonstrated a strong association with all orbital measurements, particularly SNS (B = 0.79, p < 0.001). SNS showed the highest area under the curve among orbital measurements (0.89). Using a 95% sensitivity threshold, the optimal diagnostic angle for SNS was 129.23° (specificity 54%, sensitivity 96%). These findings suggest a correlation between orbital dysmorphology and trigonocephaly severity. The observed dysmorphology manifested in a superomedially accentuated rotational pattern. Importantly, SNS angle predicted MCS, with an angle greater than 130° indicating <5% likelihood of MCS diagnosis. The simplicity of measuring SNS angle on any 3D-CT scan highlights its practical use for assisting with MCS diagnosis.

Crowdsourcing the Impact of Illustration in Cleft Surgery Education.

OBJECTIVE: This study aimed to (1) assess layperson preferences for how surgical information is presented; (2) evaluate how the format of visual information relates to layperson comfort with undergoing surgery, perceptions of surgeon character traits, and beliefs about artistic skill impacting plastic surgery practice; and (3) identify sociodemographic characteristics associated with these outcomes. DESIGN: A survey was developed in which one of five standardized sets of information depicting a unilateral cleft lip repair was presented as (1) text alone, (2) quick sketches, (3) simple drawings, (4) detailed illustrations, or (5) photographs. SETTING: Online crowdsourcing platform. PARTICIPANTS: Raters aged 18 years and older from the United States. INTERVENTIONS: None. MAIN OUTCOME MEASURE(S): After viewing the surgical information, participants answered three sets of Likert scale questions. Ratings were averaged to produce three composite scores assessing (1) comfort with undergoing surgery (2) perceptions of surgeon character traits, and (3) beliefs about plastic surgery and artistry. RESULTS: Four hundred seventy-nine participants were included. Surgeon character traits score was highest among participants who viewed detailed illustrations at 4.46 ± 0.59, followed by photographs at 4.43 ± 0.54, text alone at 4.28 ± 0.59, simple drawings at 4.17 ± 0.67, and quick sketches at 4.17 ± 0.71 (p = 0.0014). Participants who viewed detailed illustrations rated surgical comfort score and plastic surgery and artistry score highest, although differences did not achieve statistical significance. CONCLUSIONS: Viewing detailed cleft lip repair illustrations was significantly associated with positive perceptions of surgeon character traits. Our data help to contextualize methods of communication and education valued by the public when seeking cleft care.

Incomes to Outcomes: A Global Assessment of Disparities in Cleft and Craniofacial Treatment.

OBJECTIVE: Recent investigations focused on health equity have enumerated widespread disparities in cleft and craniofacial care. This review introduces a structured framework to aggregate findings and direct future research. DESIGN: Systematic review was performed to identify studies assessing health disparities based on race/ethnicity, payor type, income, geography, and education in cleft and craniofacial surgery in high-income countries (HICs) and low/middle-income countries (LMICs). Case reports and systematic reviews were excluded. Meta-analysis was conducted using fixed-effect models for disparities described in three or more studies. SETTING: N/A. PATIENTS: Patients with cleft lip/palate, craniosynostosis, craniofacial syndromes, and craniofacial trauma. INTERVENTIONS: N/A. RESULTS: One hundred forty-seven articles were included (80% cleft, 20% craniofacial; 48% HIC-based). Studies in HICs predominantly described disparities (77%,) and in LMICs focused on reducing disparities (42%). Level II-IV evidence replicated delays in cleft repair, alveolar bone grafting, and cranial vault remodeling for non-White and publicly insured patients in HICs (Grades A-B). Grade B-D evidence from LMICs suggested efficacy of community-based speech therapy and remote patient navigation programs. Meta-analysis demonstrated that Black patients underwent craniosynostosis surgery 2.8 months later than White patients (P < .001) and were less likely to undergo minimally-invasive surgery (OR 0.36, P = .002). CONCLUSIONS: Delays in cleft and craniofacial surgical treatment are consistently identified with high-level evidence among non-White and publicly-insured families in HICs. Multiple tactics to facilitate patient access and adapt multi-disciplinary case in austere settings are reported from LMICs. Future efforts including those sharing tactics among HICs and LMICs hold promise to help mitigate barriers to care.