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.

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.

Orthognathic Considerations of Maxillary and Mandibular Asymmetry at Skeletal Maturity in Patients with Cleft Lip and Palate.

BACKGROUND: Improving occlusion and aesthetics is the primary objective of orthognathic surgery for patients with cleft lip and palate (CLP). However, these patients often suffer from horizontal, vertical, and rotational asymmetry in addition to maxillary retrusion. This study aims to describe maxillary and mandibular asymmetry in patients with CLP undergoing orthognathic surgery and analyze its anatomic basis. METHODS: Patients with isolated CLP undergoing CT imaging prior to orthognathic surgery were retrospectively reviewed. Maxillary and mandibular positioning and dimensional symmetry were evaluated. Incidence of clinically significant asymmetry, correlations between areas of asymmetry, and associations with clinical history were analyzed. RESULTS: Fifty-eight patients, with mean age 17 years were analyzed, including 32 patients with unilateral CLP and 26 with bilateral CLP. Twenty (34%) patients demonstrated chin deviation ≥4mm and 21 (36%) had a ≥5% discrepancy in mandibular ramus lengths. Horizontal occlusal plane cant of ≥2° was seen in 20 (34%) maxillae and 28 (48%) mandibles, with dental arch yaw ≥2° noted in 32 (55%) of both maxillae and mandibles. Chin deviation correlated with maxillary cant, discrepancy in ramus length, discrepancy in mandibular body length, and discrepancy in condylar volume (p<0.05). Bilateral and unilateral CLP did not show significantly different asymmetry on any measure (p>0.05). CONCLUSIONS: Both maxillary and mandibular asymmetry is common in skeletally mature patients with CLP and frequently results in notable chin deviation. Preoperative three-dimensional imaging and virtual surgical planning of orthognathic surgery aid in recognition of facial asymmetries and reveal opportunities to optimize results in this population.

Factors associated with late surgical correction of craniosynostosis: A decade-long review of the United States nationwide readmission database.

Late-repair craniosynostosis (LRC), defined as craniosynostosis surgery beyond 1 year of age, is often associated with increased complexity and potential complications. Our study analyzed data from the 2010-2019 Nationwide Readmissions Database to investigate patient factors related to LRC. Of 10 830 craniosynostosis repair cases, 17% were LRC. These patients were predominantly from lower-income families and had more comorbidities, indicating that socioeconomic status could be a significant contributor. LRC patients were typically treated at teaching hospitals and privately owned investment institutions. Our risk-adjusted analysis revealed that LRC patients were more likely to belong to the lowest-income quartile, receive treatment at privately owned investment hospitals, and use self-payment methods. Despite these challenges, the hospital stay duration did not significantly differ between the two groups. Interestingly, LRC patients faced a higher predicted mean total cost compared with those who had surgery before turning 1. This difference in cost did not translate to a longer length of stay, further emphasizing the complexity of managing LRC. These findings highlight the urgent need for earlier intervention in craniosynostosis cases, particularly in lower-income communities. The medical community must strive to improve early diagnosis and treatment strategies in order to mitigate the socioeconomic and health disparities observed in LRC patients.

Psychosocial Status and Self-Perception in Patients with Cleft Lip and/or Palate.

OBJECTIVE: To describe how the psychosocial status of patients with cleft lip and/or palate (CL/P) relates to patient-reported outcomes (PROs). DESIGN: Cross-sectional retrospective chart review. SETTING: Tertiary care pediatric hospital. PATIENTS/PARTICIPANTS: Patients aged 8 to 29 years attending cleft team evaluations during a 1-year period. MAIN OUTCOME MEASURES: CLEFT-Q. RESULTS: Patients (N = 158) with isolated or syndromic CL/P and mean age 13.4 ± 3.0 years were included. Fifteen (9%) patients had siblings who also had CL/P. Of 104 patients who met with the team psychologist, psychosocial concerns were identified in 49 (47%) patients, including 25 (24%) with Attention-Deficit/Hyperactivity Disorder or behavior concerns, 28 (27%) with anxiety, and 14 (13%) with depression or mood concerns. Younger age and having siblings with cleft were associated with better PROs, while psychosocial concerns were associated with worse PROs on Speech, Psychosocial, and Face Appearance scales. CONCLUSIONS: Patient perception of cleft outcomes is linked to psychosocial factors.

Sociodemographic Factors Predict Long-Term Attrition from Multidisciplinary Cleft Clinic.

OBJECTIVE: Identify and describe factors associated with retention and attrition of patients during longitudinal follow-up at multidisciplinary cleft clinic. DESIGN: Retrospective cohort study. SETTING: Single, tertiary care center. PATIENTS, PARTICIPANTS: Patients born between 1995 and 2007 with a diagnosis of cleft palate with or without cleft lip attending multidisciplinary cleft clinic. INTERVENTIONS: None tested, observational study. MAIN OUTCOME MEASURE(S): Age at last clinical appointment with a multidisciplinary cleft team provider. Attrition was defined as absence of an outpatient appointment following 15 years of age. RESULTS: Six hundred seventy-eight patients were included. The average age at last appointment across the entire cohort was 13.1 years (IQR 6.6-17.2). Patients who were Black (HR 1.60, 95% CI 1.10-2.32, p = 0.014) and other races (HR 1.90, 95% CI 1.22-2.98, p = 0.004) were more likely to be lost to follow-up compared to white patients. Publicly insured patients were more likely to experience attrition than those who were privately insured (HR 1.30, 95% CI 1.03-1.65, p = 0.030). Estimated income was not significantly associated with length of follow-up (p = 0.259). Those whose residence was in the fourth quartile of driving distance from our center experienced loss to follow-up significantly more than those who lived the closest (HR 2.04, 95% CI 1.50-2.78, p < 0.001). CONCLUSIONS: There is a high degree of follow-up attrition among patients with cleft lip and palate. Race, insurance status, and driving distance to our center were associated with attrition in a large, retrospective cohort of patients who have reached the age of cleft clinic graduation.

Mandibular condyle volumes are associated with facial asymmetry in patients with cleft lip and palate: A retrospective cohort study.

This study compares condylar volumetric asymmetry and facial asymmetry in patients with cleft lip and/or palate (CLP) and controls. The mandibular condyle is important to facial growth, but its role in facial asymmetry for those with CLP has not been described. Condylar volumes and mandibular asymmetry were retrospectively calculated using Mimics Version 23.0 (Materialise, Leuven, Belgium) from patients with CLP undergoing computed tomography (CT) imaging and a cohort of controls. A total of 101 participants, 60 with CLP and 41 controls, had mean condylar volumetric asymmetry of 16.4 ± 17.4 % (CLP) and 6.0 ± 4.0 % (controls) (p = 0.0002). Patients with CLP who had clinically significant chin deviation (>4 mm) had more asymmetric condyles than those without significant chin deviation (p = 0.003). The chin deviated toward the smaller condyle in patients with facial asymmetry more often than in patients without facial asymmetry (81 % vs. 62 %, p = 0.033). While controls had some degree of condylar asymmetry, it tended to be milder and not associated with facial asymmetry. There is a greater degree of condylar volumetric asymmetry in patients with CLP compared to individuals in the general population. Clinically significant facial asymmetry in CLP is associated with a higher degree of condylar asymmetry, with the facial midline deviating toward the smaller condyle.

Putting our heads together: The future of craniopagus twin separation.

Computer-assisted design and computer-assisted modeling (CAD/CAM), virtual surgical planning (VSP) and augmented/virtual reality (AR/VR) aid our ability to plan and perform complex craniofacial procedures. This study seeks to define the role of the aforementioned techniques in the separation of craniopagus conjoined twins. Six teams were identified who had successfully performed craniopagus twin separation with the use of CAD/CAM, VSP and/or AR/VR. Surgeons involved in separating craniopagus twins have increasingly utilized tools such as CAD/CAM models, VSP and AR/VR to plan and execute successful separation, and these tools are associated with higher success rates than historical controls.

Long-Term Orbito-ocular Outcomes Following LeFort III and Monobloc Distraction Osteogenesis in Patients with Syndromic Craniosynostosis.

INTRODUCTION: Exorbitism in patients with syndromic craniosynostosis is often managed by LeFort III (LF3) or Monobloc (MB) distraction osteogenesis (DO). This study compared short- and long-term orbital craniometrics after LF3DO/MBDO and related these findings to symptom relief. METHODS: Patients undergoing LF3DO or MBDO from 2000-2021 with pre- and postoperative imaging were included. Postoperative CTs were categorized as early (<1 year) or late (>1 year), and age-matched control CTs were compared to late postoperative scans. Superior/inferior orbital rim position, relative globe position, and orbital volume were analyzed. Symptoms were assessed by a patient-reported outcome (PRO) analysis. RESULTS: Thirty-four patients (16 LF3DO, 18 MBDO) were matched by age at surgery, sex, syndrome, and age at imaging. Time to late CT was 6.2 years (LF3DO) and 7.5 years (MBDO). Between early and late postoperative time points, LF3DO patients experienced no change in inferior rim position. MBDO patients experienced a decrease in inferior orbital rim position of 4.7mm (p=0.005), but superior orbital rim distance remained stable. Comparison of late scans and age-matched controls revealed no difference in inferior or superior orbital rim position in LF3DO patients, but the superior orbital rim distance was longer in MBDO patients (p=0.015). PRO response rate was 76% with a median follow up of 13.7 years. Most (81%) symptomatic patients improved, 19% remained symptomatic, and no patients worsened. CONCLUSIONS: LF3DO and MBDO achieved stable orbital craniometric changes, with improved stability at the inferior orbital rim after LF3DO. Craniometric changes were associated with long-term exorbitism symptom relief.

Immunologic Outcomes in Cross-Sex Solid Organ Transplants: A Systematic Review and Meta-Analysis to Inform Vascularized Composite Allotransplantation.

BACKGROUND: Of nearly 90 hand and 50 face transplant recipients, only five have received a cross-sex vascularized composite allotransplantation (CS-VCA). CS-VCA has the potential to expand the donor pool and has been proven anatomically feasible and ethically acceptable in previous studies. However, there is a lack of immunologic data. This study evaluated the immunologic feasibility of CS-VCA through analysis of the solid organ transplant literature, given the paucity of CS-VCA data. The authors hypothesize that rates of acute rejection (AR) and graft survival (GS) in CS versus same-sex (SS) solid organ transplantation are similar. METHODS: A systematic review and meta-analysis were performed. Studies comparing GS or AR episodes in CS and SS adult kidney (KT) and liver transplant (LT) populations were included. Odds ratios were calculated for overall GS and AR for all SS and CS transplant combinations [male-to-female (MTF), female-to-male, and overall]. RESULTS: A total of 693 articles were initially identified with 25 included in the meta-analysis. No significant difference in GS was noted between SS-KT versus CS-KT [OR, 1.04 (95% CI, 1.00 to 1.07); P = 0.07), SS-KT versus MTF-KT [OR, 0.97 (95% CI, 0.90 to 1.04); P = 0.41), and SS-LT versus MTF-LT [OR, 0.95 (95% CI, 0.91 to 1.00); P = 0.05). No significant difference in AR was noted between SS-KT versus MTF-KT [OR, 0.99 (95% CI, 0.96 to 1.02); P = 0.57), SS-LT versus CS-LT [OR, 0.78 (95% CI, 0.53 to 1.16); P = 0.22], or SS-LT versus female-to-male LT [OR, 1.03 (95% CI, 0.95 to 1.12); P = 0.47]. For the remaining pairings, GS was significantly increased and AR was significantly decreased in the SS transplants. CONCLUSIONS: Published data suggest immunologic feasibility of CS-KT and CS-LT with the potential for generalization to the VCA population. CLINICAL RELEVANCE STATEMENT: In theory, CS-VCA could expand the potential donor pool, ultimately leading to decreased wait times for recipients and improve the likelihood of establishing a immunologically favorable donor-recipient match.

Severity of Mandibular Dysmorphology in Treacher Collins Syndrome for Stratification of Perioperative Airway Risk.

BACKGROUND: Patients with Treacher Collins syndrome (TCS) and attendant airway dysmorphology may be predisposed to airway complications in the perioperative period. However, limited data correlates severity of mandibular hypoplasia and airway status. This study aims to improve risk stratification for perioperative airway insufficiency in TCS by using a previously proposed mandibular severity index. METHODS: Patient demographics, perioperative airway status, difficulty of intubation, and Cormack Lehane grade were collected and compared using a TCS mandibular hypoplasia severity grading scale in patients with TCS treated between 2000 and 2022. RESULTS: Twenty-six patients underwent 222 procedures with institutional mandibular severity gradings as follows: 23% Grade I, 31% Grade II, 39% Grade III, 8% Grade IV. Our severity index was associated with intubation difficulty ( P <0.001) and difficult airway status ( P <0.001), with 72% of difficult airways found in grade III and grade IV patients. Mandibular retrusion and ramal hypoplasia subscores were positively correlated with measures of airway severity ( P <0.001), whereas the gonial angle was negatively correlated ( P <0.001). Age was negatively correlated with difficult visualization for endotracheal intubation ( P =0.02) but had no association with difficult airway status ( P =0.2). CONCLUSIONS: This study found a positive correlation between severity of maxillomandibular dysmorphology and perioperative airway difficulty in TCS patients. Our findings suggest that severely affected patients require heightened vigilance throughout life, as difficult airways may not completely resolve with aging. Given the risk of morbidity and mortality associated with airway complications, proper identification and preparation for challenging airways is critical for TCS patients.

LeFort III Versus Monobloc Frontofacial Advancement: A Comparative Analysis of Soft Tissue Changes.

INTRODUCTION: The LeFort III and monobloc are commonly used midface advancement procedures for patients with syndromic craniosynostosis with well characterized postoperative skeletal changes. However, the differential effects of these procedures on facial soft tissues are less understood. The purpose of this study was to critically analyze and compare the effects of these 2 procedures on the overlying soft tissues of the face. METHODS: Frontal and lateral preoperative and postoperative photographs of patients undergoing monobloc or LeFort III were retrospectively analyzed using ImageJ to measure soft tissue landmarks. Measurements included height of facial thirds, nasal length and width, intercanthal distance, and palpebral fissure height and width. Facial convexity was quantified by calculating the angle between sellion (radix), subnasale, and pogonion on lateral photographs. RESULTS: Twenty-five patients with an average age of 6.7 years (range 4.8-14.5) undergoing monobloc (n=12) and LeFort III (n=13) were identified retrospectively and analyzed preoperatively and 6.4±3.6 months postoperatively. Patients undergoing LeFort III had a greater average postoperative increase in facial convexity angle acuity (28.2°) than patients undergoing monobloc (17.8°, P =0.021). Patients in both groups experience postoperative increases in nasal width ( P <0.001) and decreases in palpebral fissure height ( P <0.001). CONCLUSIONS: Both subcranial LeFort III advancements and monobloc frontofacial advancements resulted in significant changes in the soft tissues. Patients undergoing LeFort III procedures achieved greater acuity of the facial convexity angle, likely because the nasion is not advanced with the LeFort III segment.

Comprehensive Long-Term Outcomes Following Mandibular Distraction Osteogenesis.

OBJECTIVE: To describe long-term outcomes and complications following mandibular distraction osteogenesis (MDO) in a diverse patient cohort. DESIGN: Cross-sectional study. SETTING: Single tertiary-care pediatric center. PATIENTS: Forty-eight patients previously undergoing MDO with minimum 4-year follow-up. MAIN OUTCOME MEASURES: Respiratory outcomes, feeding patterns, dental development, motor/sensory nerve function, temporo-mandibular joint function, and postsurgical scarring. RESULTS: Forty-six patients with a median age of 7 years were evaluated. Of 20 nonsyndromic patients, none required additional airway procedures, none required continuous positive airway pressure (CPAP) during sleep, and 19 (95%) fed exclusively by mouth. Among 26 syndromic patients, 7 (27%) required CPAP and 8 (31%) were tube fed. Permanent first molar differences were seen in the majority of subjects; patterns of damage interfering with function were more common in syndromic (13/28, 46%) compared to nonsyndromic (5/24, 21%; P = .014) subjects. MDO prior to age two was associated with more frequent and worse dental damage (P = .001). Inferior alveolar nerve and marginal mandibular nerve function were fully intact in 37 (80%) and 39 (85%) of patients, respectively. Three patients (6%), all with associated genetic syndromes, demonstrated severe nerve impairment. By the Vancouver scar scale, ≥ 80% of surgical scars were rated in the most favorable category for each quality assessed. Temporomandibular joint dysfunction was rare. CONCLUSIONS: MDO shows highly favorable long-term respiratory, feeding, nerve, and scar outcomes in nonsyndromic patients, although permanent molar changes not precluding tooth viability are commonly seen. Patients with associated syndromes demonstrate respiratory and feeding benefits, but higher rates of dental and nerve abnormalities.

(Epi)genotype and Timing of Tongue Reduction Predict Safety and Long-Term Outcomes in Beckwith-Wiedemann Syndrome.

INTRODUCTION: Macroglossia is a cardinal feature of Beckwith-Wiedemann syndrome (BWS) with a clinical spectrum where the indication and timing for surgery remain to be validated. This study leverages a cohort of molecularly characterized patients with BWS to correlate epigenetic diagnosis with phenotype and treatment outcome. METHODS: Patients with BWS seen in consultation for macroglossia from 2009-2022 were reviewed for phenotype, molecular diagnosis, tongue reduction status, timing of surgery (early = under 12 months), and perioperative complications. RESULTS: Two hundred thirty-seven patients were included. Imprinting control region 2 loss of methylation (IC2 LOM) was the most common epigenotype (61%). Paternal uniparental isodisomy for chromosome 11 (pUPD11) comprised a larger proportion of patients undergoing tongue reduction (18%) than those not undergoing surgery (8%, p = 0.024) and was associated with need for repeat surgery (OR 4.49, 95% CI 1.06-18.98, p = 0.041). Complications including wound dehiscence, ventilator associated pneumonia, and unplanned extubation were more common in patients undergoing early surgery (20%) than late surgery (4%, OR 5.70, 95% CI 1.14-28.55, p = 0.034). CONCLUSIONS: This study presents one of the largest cohorts correlating molecular diagnosis with clinical course of macroglossia treatment in BWS. Macroglossia in patients with pUPD11 is associated with higher rates of reoperation. Relief of obstructive sleep apnea with early tongue reduction must be weighed against risk of perioperative complications, most of which are non-surgical. This study highlights how molecular diagnosis advances clinical care by risk stratifying clinical outcomes in a center providing integrated multidisciplinary care for the BWS population.

Speech Outcomes and Rates of Secondary Speech Surgery from Childhood to Skeletal Maturity Following Modified-Furlow Palatoplasty.

BACKGROUND: This study updates our institutional experience with modified Furlow palatoplasty, evaluating speech outcomes and incidence of secondary speech surgery throughout development and at skeletal maturity. METHODS: Nonsyndromic patients undergoing primary modified Furlow palatoplasty between 1985 and 2005 with post-operative speech evaluations were retrospectively reviewed. Secondary speech surgery and Pittsburgh Weighted Speech Scale (PWSS) scores prior to secondary speech or orthognathic surgeries were assessed in the 5-7, 8-11, 12-14, and 15+ age groups and analyzed by Veau cleft type. RESULTS: Five hundred fifty-one patients with 895 total speech assessments were analyzed. Of 364 patients followed to age 15 or older, 19.8% underwent secondary speech surgery. Speech assessment of patients aged 15 or older without prior secondary speech surgery showed competent velopharyngeal mechanisms in 77% of patients. PWSS nasal emission scores were worse in the 5-7 age range (p=0.02), while resonance scores remained stable throughout development (p=0.2). Patients with Veau type I or II clefts had worse overall PWSS classifications in the age 5-7 and 8-11 age groups (p=0.01, p=0.03), with greater odds of secondary speech surgery relative to those with Veau type III (OR 2.9, p<0.001) or IV clefts (OR 3.6, p=0.001). CONCLUSIONS: Most patients undergoing primary modified Furlow palatoplasty do not require secondary speech surgery and achieve socially acceptable speech at skeletal maturity. However, Veau type I and II clefts are associated with increased risk for early velopharyngeal dysfunction and secondary speech surgery. Incidence of secondary speech surgery was 19.8%, an increase from our previously reported rate of 8%.

How does CLEFT-Q change the way we practice? A prospective study integrating patient-reported outcomes.

OBJECTIVE: The CLEFT-Q is a validated instrument designed to elicit patient-reported outcomes among people affected by cleft lip and/or palate. However, it has not been reported how use of CLEFT-Q data alters routine cleft care. This study analyzed the impact of CLEFT-Q data integration on patient care and clinical decision making. METHODS: Patients were sequentially, prospectively evaluated during scheduled cleft team visits. The CLEFT-Q was completed prior to the clinic encounter but results were initially masked from the surgeon and family. In the encounter, a study observer characterized patients' verbalized attitudes across seven specific domains of appearance and function and the provisional assessment and plan was noted. CLEFT-Q data was then introduced in the clinical encounter and discussed. Discordance between patients' initially verbalized attitudes and their self-reported scores on the CLEFT-Q was documented along with any resultant modifications to their care plan. RESULTS: Seventy patient visits were observed; mean patient age was 12.7 years (range 8-19). Forty-one patients (59%) had cleft lip and palate/alveolus and 29 (41%) had isolated cleft palate. Discordance was observed in 36% of visits and in 9.2% of specific domains assessed. Highest discordance rates were observed in domains of psychosocial function (12.5%,) speech function/distress (11.6%,) and lips/lip scar appearance (11.6%). No age group or gender was associated with increased discordance. Integration of CLEFT-Q results altered the assessment and plan in 11 (16%) visits. CONCLUSIONS: The CLEFT-Q provides clinically-relevant insight into patient perspectives that are not captured by routine interview and examination alone, and regularly leads to a change in the management plan.

Associations between the timing of tongue reduction surgery, (Epi)genotype, and dentoskeletal development in patients with Beckwith-Wiedemann syndrome.

Tongue reduction surgery is often pursued to manage the adverse effects of macroglossia in patients with Beckwith-Wiedemann syndrome (BWS). This study characterized dental outcomes in patients with BWS based on surgical timing and molecular diagnosis. A retrospective study was designed to include patients with BWS over the age of two who had clinical or radiographic documentation of dental development. Patients were grouped by history of tongue reduction surgery and surgical timing (early: <12 months). One hundred three patients were included (55 no tongue reduction, 18 early, 30 late). Patients who underwent late surgery had lower odds of class I occlusion (OR 0.11, 95% CI 0.02-0.58, p = 0.009) and higher odds of anterior open bite (OR 7.5, 95% CI 1.14-49.4, p = 0.036). Patients with clinical diagnoses and negative molecular testing had anterior open bite less frequently than patients with imprinting center 2 loss of methylation and paternal uniparental isodisomy of 11p15.5 (p = 0.009). Compared to reference values, patients who had tongue reductions had an increased mandibular plane angle (32.0 ± 4.5° versus 36.9 ± 5.0°, p = 0.001), indicative of hyperdivergent growth. The results of this study help to understand the complex nature of dentoskeletal growth in BWS and shed insight on how surgical timing and molecular diagnosis influence prognosis.

Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.

BACKGROUND: Apert syndrome is predominantly caused by 2 paternally inherited gain-of-function mutations in the FGFR2 gene, Pro253Arg, and Ser252Trp. Studies comparing phenotypic features between these 2 mutations have established differences in syndactyly severity and incidence of cleft palate. Obstructive sleep apnea can be debilitating in a subset of patients with Apert syndrome, yet is not well understood. This study aims to determine whether FGFR2 mutations impart differential effects on airway physiology and morphology. METHODS: Patients with Apert syndrome and confirmatory molecular testing were reviewed for polysomnography, nasal endoscopy, microlaryngoscopy and bronchoscopy, and computed tomography imaging. Obstructive apnea-hypopnea index and oxygen saturation nadir, nasal airway volumes, choanal cross-sectional area, and midfacial cephalometric dimensions were compared across mutation types. RESULTS: Twenty-four patients (13 Ser252Trp, 11 Pro253Arg) were included. Severe obstructive sleep apnea (obstructive apnea-hypopnea index>10) occurred in 8 (62%) patients with Ser252Trp mutations compared with 1 (9%) patient with Pro253Arg mutations ( P =0.009). Computed tomography imaging at 1 year of age demonstrated that nasopharyngeal airway volumes were 5302±1076 mm 3 in the Ser252Trp group and 6832±1414 mm 3 in the Pro253Arg group ( P =0.041). Maxillary length (anterior nasal spine-posterior nasal spine, P =0.026) and basion-anterior nasal spine ( P =0.007) were shorter in patients with Ser252Trp mutations. CONCLUSIONS: The findings suggest that the Ser252Trp mutation in Apert syndrome is associated with higher severity obstructive sleep apnea and decreased nasopharyngeal airway volume. Heightened clinical awareness of these associations may inform treatment planning and family counseling.

Radiographic Evidence of Dental Complications Following Mandibular Distraction Osteogenesis: Inverted-L versus Oblique Osteotomy.

INTRODUCTION: Patients with micrognathia undergoing mandibular distraction osteogenesis (MDO) for functional and aesthetic improvement are at significant risk for dental complications. This study investigates association of two osteotomy patterns-oblique and inverted-L-with risk to developing dentition. METHODS: Our senior orthodontist performed a retrospective review of dental radiographs of patients undergoing MDO with confirmed oblique or inverted-L osteotomies between 2012 and 2022. Images were assessed for evidence of missing, damaged, or displaced teeth, and proportion of affected hemimandibles by injury type and median number of affected teeth per hemimandible were compared between groups using appropriate statistical methodology. RESULTS: Analysis included 44 patients (23 oblique, 21 inverted-L) and 85 hemimandibles (45 and 40). Mean age at surgery was 3.1±4.6 years, and mean time to imaging was 4.9±4.1 years; there was no difference between groups (p=0.23, p=0.34, respectively). Oblique osteotomy was associated with greater odds of missing teeth (OR 13.3, p<0.001), damaged teeth (OR 3.2, p=0.02), and any dental injury (OR 39.9, p<0.001) compared to inverted-L, as well as greater number of missing teeth (ß=0.6, p<0.01), damaged teeth (ß=0.3, p=0.02), and total number of affected teeth (ß=0.9, p<0.001). There was no difference in incidence (p=0.5) or number (p=0.4) of displaced teeth between groups. CONCLUSION: Inverted-L osteotomies were associated with fewer dental complications as compared to oblique osteotomy at all ages studied. While longer-term follow up and prospective data are needed prior to making definitive recommendations, this data is helpful to surgeons as they plan MDO.

Long-Term Patient-Reported Outcomes in Internationally Adopted Children with Cleft Lip and Palate.

OBJECTIVE: To compare patient-reported outcomes (PROs) in internationally adopted patients with cleft lip and palate to those in non-adopted peers. DESIGN: Cross-sectional study. SETTING: Multidisciplinary cleft team at tertiary care hospital. PATIENTS: Patients aged ≥ 8 with cleft lip and palate attending routine cleft team evaluations September 2021 - September 2022. MAIN OUTCOME MEASURE: CLEFT-Q PRO scores. RESULTS: Sixty-four internationally adopted patients and 113 non-adopted patients with a mean age of 13 years were included. Compared to non-adopted peers, adopted patients demonstrated worse satisfaction with face appearance (mean 59 vs. 66, p = .044), speech function (mean 69 vs. 78, p = .005), and speech distress (mean 80 vs. 84, p = .032). No significant differences were observed on the nose, nostrils, teeth, lips, lip scar, jaws, psychological function, or social function scales (p > .05). Objective clinical evaluation corroborated these findings, with adopted patients demonstrating worse Pittsburgh Weighted Speech scores (mean 3.0 vs 1.9, p = .027) and greater incidence of articulation errors (64% vs 46%, p = .021). No significant differences were observed in rates of mood, anxiety, or behavior concerns identified on psychosocial assessment (p = .764). Among adopted patients, undergoing palatoplasty prior to adoption was associated with worse satisfaction with speech, appearance, school, and social function (p < .05). CONCLUSIONS: Patient-reported outcomes among internationally adopted adolescents and young adults with cleft lip and palate show slightly lower satisfaction with facial appearance and speech but otherwise demonstrate similar results to non-adopted peers on most appearance and psychosocial measures. PRO data correlated well with objective speech assessment and did not portend worse psychosocial function.