Three contrasts in 3 min: Rapid, high-resolution, and bone-selective UTE MRI for craniofacial imaging with automated deep-learning skull segmentation.

PURPOSE: Ultrashort echo time (UTE) MRI can be a radiation-free alternative to CT for craniofacial imaging of pediatric patients. However, unlike CT, bone-specific MR imaging is limited by long scan times, relatively low spatial resolution, and a time-consuming bone segmentation workflow. METHODS: A rapid, high-resolution UTE technique for brain and skull imaging in conjunction with an automatic segmentation pipeline was developed. A dual-RF, dual-echo UTE sequence was optimized for rapid scan time (3 min) and smaller voxel size (0.65 mm3). A weighted least-squares conjugate gradient method for computing the bone-selective image improves bone specificity while retaining bone sensitivity. Additionally, a deep-learning U-Net model was trained to automatically segment the skull from the bone-selective images. Ten healthy adult volunteers (six male, age 31.5 ± 10 years) and three pediatric patients (two male, ages 12 to 15 years) were scanned at 3 T. Clinical CT for the three patients were obtained for validation. Similarities in 3D skull reconstructions relative to clinical standard CT were evaluated based on the Dice similarity coefficient and Hausdorff distance. Craniometric measurements were used to assess geometric accuracy of the 3D skull renderings. RESULTS: The weighted least-squares method produces images with enhanced bone specificity, suppression of soft tissue, and separation from air at the sinuses when validated against CT in pediatric patients. Dice similarity coefficient overlap was 0.86 ± 0.05, and the 95th percentile Hausdorff distance was 1.77 ± 0.49 mm between the full-skull binary masks of the optimized UTE and CT in the testing dataset. CONCLUSION: An optimized MRI acquisition, reconstruction, and segmentation workflow for craniofacial imaging was developed.

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.

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.

The Peripheral Reduction With Keyhole Tongue Reduction Technique for Macroglossia in Beckwith-Wiedemann Syndrome.

OBJECTIVE: Patients with Beckwith-Wiedemann syndrome commonly have macroglossia, which can negatively affect dentoskeletal development, breathing, speaking, and eating. Tongue reduction surgery can improve symptoms, but there is no standardized surgical approach. METHODS: A video and observational commentary highlighting the effectiveness of a tongue reduction technique for BWS were presented. RESULTS: The peripheral resection with a keyhole approach safely reduced tongue volume, maintained the lateral neurovascular pedicles, optimized intraoperative visualization, and limited bleeding. CONCLUSIONS: The peripheral resection with a keyhole tongue reduction surgical technique is effective for treating symptomatic macroglossia in BWS.

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.

Craniofacial Imaging of Pediatric Patients by Ultrashort Echo-Time Bone-Selective MRI in Comparison to CT.

RATIONALE AND OBJECTIVES: The emergence of low-dose protocols for CT imaging has mitigated pediatric radiation exposure, yet ionizing radiation remains a concern for children with complex craniofacial conditions requiring repeated radiologic monitoring. In this work, the clinical feasibility of an ultrashort echo time (UTE) MRI sequence was investigated in pediatric patients. MATERIALS AND METHODS: Twelve pediatric patients (6 female, age range 8 to 18 years) with various imaging conditions were scanned at 3T using a dual-radiofrequency, dual-echo UTE MRI sequence. Bright-bone images were generated using a weighted least-squares conjugate gradient method to enhance bone specificity. The overlap of the binary skull masks was quantified using the Dice similarity coefficient (DSC) and the 95th percentile Hausdorff distance (HD95) to evaluate the similarity between MRI and CT. To assess the anatomic accuracy of 3D skull reconstructions, six craniometric distances were recorded and the agreement between MRI- and CT-derived measurements was evaluated using Lin's concordance correlation coefficient (ρc). RESULTS: The bright-bone images from UTE MRI demonstrated high bone-contrast, suppression of soft tissue, and separation from air at the sinuses. The DSC and HD95 between MRI and CT had medians of 0.81 ± 0.10 and 1.87 ± 0.32 mm, respectively. There was good agreement between MRI and CT for all craniometric distances (ρc ranging from 0.90 to 0.99) with a mean absolute difference in measurements of < 2 mm. CONCLUSION: The clinical feasibility of the UTE MRI sequence for craniofacial imaging was demonstrated in a cohort of pediatric patients, showing good agreement with CT in resolving thin bone structures and craniometry.

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.

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.

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.

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.