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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.

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INTRODUCTION: Little is known about rates of suicidal ideation and behavior among youth with cleft lip and/or palate (CLP) and other craniofacial conditions. METHODS: Records of patients ages 6 and older who were administered the Columbia-Suicide Severity Rating Scale (C-SSRS) Lifetime Version during routine multidisciplinary cleft or craniofacial team visits between 2019 and 2023 were examined. Demographics information, C-SSRS data, and diagnoses were assessed with statistics including t tests, the Fisher exact test, and odds ratios. RESULTS: A total of 1140 C-SSRS questionnaires across 602 (433 CLP and 169 craniofacial) patients with an average age of 11.2±3.7 years were included. Eighty-four (13.6%) patients endorsed lifetime suicidal ideation, 9 (1.5%) had at least one instance of suicidal behavior, 30 (5.0%) endorsed nonsuicidal self-injury, and 2 (0.3%) engaged in self-injurious behavior. Compared with CLP, those with other craniofacial conditions had similar odds of endorsing suicidal ideation and behavior ( P ≥0.05). Compared with those with isolated cleft palates, CLP had greater odds of endorsing suicidal ideation and behavior, though those differences were not significant ( P ≥0.05). Incidence of suicidality was unchanged before, during, and after the COVID-19 pandemic ( P ≥0.05). Dividing patients by sex or insurance type revealed no difference in suicidality ( P ≥0.05). CONCLUSION: Patients with CLP and craniofacial conditions have a high incidence of suicidal ideation and behavior, though levels are similar between these groups. Suicidality in these patients was not negatively impacted by the COVID-19 pandemic. Early identification of safety risks and psychosocial challenges through regular screening can facilitate connection with appropriate clinical interventions.

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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.

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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.

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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.

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BACKGROUND: This study assesses nasal airway volumes in skeletally mature patients with CLP and healthy controls and examines the relationship among nasal volumes, cleft laterality, and facial asymmetry. METHODS: Computed tomography images from patients with CLP and controls were analyzed using Mimics Version 23.0 (Materialise, Leuven, Belgium). Relationships among nasal airway volume, cleft laterality, and facial asymmetry were compared. RESULTS: The 89 patients in this study included 66 (74%) CLP and 23 (17%) controls. Nasal airway volumes in CLP were more asymmetric than controls (26.8±17.5% vs. 17.2±14.4%; P=0.015). In UCLP, the smaller nasal airway was on the cleft side 81% of the time (P<0.001). Maximum airway stenosis was on the cleft side 79% of the time (P<0.001), and maximum stenosis was on the same side as the smaller airway 89% of the time (P<0.001). There was a mild linear relationship between nasal airway asymmetry and maximum stenosis (r=0.247, P=0.023). On 3-dimensional image reconstruction, the septum often bowed convexly into the cleft-sided nasal airway with a caudal deviation towards the noncleft side. Nasal airway asymmetry was not associated with facial midline asymmetry (P>0.05). CONCLUSION: The nasal airway is more asymmetric in patients with cleft lip and palate compared with the general population, with the area of maximum stenosis usually occurring on the cleft-sided airway. In patients with unilateral cleft lip and palate, the septum often bows into the cleft side, reducing the size of that nasal airway. Nasal airway asymmetry did not correlate with facial asymmetry.

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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.

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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.

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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.

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Apert syndrome classically presents with craniosynostosis at birth, most commonly of the bilateral coronal sutures, which may lead to cephalocranial disproportion and elevated intracranial pressure, the latter of which is associated with optic atrophy, visual loss, and developmental delays. A small number of patients with syndromic craniosynostosis demonstrate open sutures at birth; however, all previously reported patients of this subtype have been reported to develop premature suture fusion in the early postnatal period and/or require cranial vault expansion for increased intracranial pressure. Here, we report on a patient with Apert syndrome who did not have closed sutures at birth, and only began to demonstrate unilateral coronal suture fusion between ages 4 and 6 years, yet neither developed phenotypic signs of craniosynostosis nor evidence of intracranial hypertension. Moreover, despite demonstrating patency of the spheno-occipital synchondrosis, the patient developed progressive midface hypoplasia, requiring a subcranial Le Fort 3 advancement with external distraction at age 9. Now at skeletal maturity, this patient has a normal cranial shape and will likely never require cranial vault surgery for functional or aesthetic concerns. We are not aware of any prior reports of a patient with Apert syndrome who did not require intracranial surgery over long-term follow-up.

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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.

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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.

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SUMMARY: Posterior vault distraction osteogenesis (PVDO) traditionally relies on the use of cranial distractors affixed with titanium screws to the posterior cranial vault transport segment to allow for expansion of intracranial volume. We describe a novel technique using the Synthes RAPIDSORB IPS resorbable fixation system for stable fixation of the distraction hardware for PVDO. In a retrospective review of our experience with the IPS system, there was no instance of hardware or fixation failure. This off-label use of the IPS system results in a significant reduction in operative time for hardware removal while allowing for a more limited dissection, which can help reduce devascularization of the bony regenerate, bony relapse, and other complications.

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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.

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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.

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The expansion of Medicaid under the Affordable Care Act (ACA) increased access to health care for many low-income children. However, the impact of this expansion on the timing of primary cleft lip and palate repair remains unclear. This study aimed to evaluate whether Medicaid expansion improved access to timely cleft lip and palate repair and whether it reduced preexisting ethnoracial disparities. Using a quasi-experimental design, the study analyzed data from 44 pediatric surgical centers across the United States. The results showed that Medicaid expansion was associated with a 9.0 percentage-point increase in delayed cleft lip repairs, resulting in an average delay of 16 days. Non-White patients were disproportionately affected by this delay, experiencing a 14.8 percentage-point increase compared with a 4.9 percentage-point increase for White patients. In contrast, Medicaid expansion had no significant effect on the timing of palate repair or on ethnoracial disparities in palate repair. The study underscores the importance of monitoring unintended consequences of large-scale health system changes, especially those affecting disadvantaged populations. Delayed cleft lip repair can lead to worse outcomes for patients, and the disproportionate impact on non-White patients is concerning. Further research is needed to identify the reasons for this delay and to mitigate its effects. Overall, the study highlights the need for ongoing vigilance to ensure that health care policies and interventions do not inadvertently worsen health disparities.

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BACKGROUND: Elevated intracranial pressure (ICP) in sagittal craniosynostosis has a wide spectrum of reported incidence, and patterns are not well understood across infancy and childhood. Characterizing the natural history of ICP in this population may clarify risks for neurocognitive delay and inform treatment decisions. METHODS: Infants and children with sagittal craniosynostosis and unaffected control subjects were prospectively evaluated with spectral-domain optical coherence tomography (OCT) from 2014-2021. Elevated ICP was determined based on previously validated algorithms utilizing retinal OCT parameters. RESULTS: Seventy-two patients with isolated sagittal craniosynostosis, and 25 control subjects were evaluated. Overall, 31.9% (n=23) of patients with sagittal craniosynostosis had evidence of ICP ≥15 mmHg, and 27.8% (n=20) of patients had ICP ≥20 mmHg.Children with sagittal craniosynostosis younger than 6 months of age were more likely to have normal intracranial pressure (88.6% <15 mmHg, 91.4% <20 mmHg) than those between 6-12 months of age (54.5%, p=.013; 54.5%, p=.005) and than those older than 12 months of age (46.2%, p<.001; 53.8%, p=.001). Intracranial pressure was directly correlated with severity of scaphocephaly (p=.009). No unaffected control subjects at any age exhibited retinal thickening suggestive of elevated ICP. CONCLUSIONS: Elevated ICP is rare in isolated sagittal craniosynostosis below 6 months of age, but becomes significantly more common after 6 months of age, and may correlate with severity of scaphocephaly.

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Birk-Barel intellectual disability dimorphism syndrome, also referred to as KCNK9 imprinting syndrome, is an exceedingly rare condition described in under 20 cases that presents with intellectual disability, hypotonia, scoliosis, dysphonia, dysphagia, and craniofacial dysmorphic features. The condition follows an autosomal dominant pattern of inheritance in the maternally expressed KCNK9 gene on chromosome 8. Due to the complexity of presentation, patients with Birk-Barel syndrome are optimally managed by a multidisciplinary team including a craniofacial surgeon. Previously described craniofacial dysmorphic features include micrognathia, cleft palate, dolichocephaly, broad nasal tip, and broad philtrum, among others. Here the authors describe a genetically confirmed case that has been managed in our institution's multidisciplinary cleft and craniofacial clinic. The authors aim to discuss Birk-Barel syndrome for a surgical and craniofacial audience with considerations for operative management in the context of a multidisciplinary team.

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