A multi-stem cell basis for craniosynostosis and calvarial mineralization.

Craniosynostosis is a group of disorders of premature calvarial suture fusion. The identity of the calvarial stem cells (CSCs) that produce fusion-driving osteoblasts in craniosynostosis remains poorly understood. Here we show that both physiologic calvarial mineralization and pathologic calvarial fusion in craniosynostosis reflect the interaction of two separate stem cell lineages; a previously identified cathepsin K (CTSK) lineage CSC1 (CTSK+ CSC) and a separate discoidin domain-containing receptor 2 (DDR2) lineage stem cell (DDR2+ CSC) that we identified in this study. Deletion of Twist1, a gene associated with craniosynostosis in humans2,3, solely in CTSK+ CSCs is sufficient to drive craniosynostosis in mice, but the sites that are destined to fuse exhibit an unexpected depletion of CTSK+ CSCs and a corresponding expansion of DDR2+ CSCs, with DDR2+ CSC expansion being a direct maladaptive response to CTSK+ CSC depletion. DDR2+ CSCs display full stemness features, and our results establish the presence of two distinct stem cell lineages in the sutures, with both populations contributing to physiologic calvarial mineralization. DDR2+ CSCs mediate a distinct form of endochondral ossification without the typical haematopoietic marrow formation. Implantation of DDR2+ CSCs into suture sites is sufficient to induce fusion, and this phenotype was prevented by co-transplantation of CTSK+ CSCs. Finally, the human counterparts of DDR2+ CSCs and CTSK+ CSCs display conserved functional properties in xenograft assays. The interaction between these two stem cell populations provides a new biologic interface for the modulation of calvarial mineralization and suture patency.

The Lost and Variable Cause: A Systematic Review of Shunt-Related Craniosynostosis Occurrence.

OBJECTIVE: Shunt-related craniosynostosis (SRC) is the premature fusion of cranial sutures possibly due to a loss of tension across dura and suture lines after placement of a shunt for hydrocephalus. As modifications in approaches toward shunting represent a modifiable risk factor, prior literature has investigated the determinants and outcomes. However, the data remain highly variable and are limited by single-institution studies. METHODS: A systematic search of PubMed, Embase, and Web of Science from inception to February 2022 was conducted. Studies were screened by 2 reviewers for eligibility based on predefined inclusion/exclusion criteria. RESULTS: In the 9 included articles, the average follow-up time for the entire cohort ranged from 1.5 to 4.2 years. The pooled incidence of SRC across all 9 studies was 6.5% (140/2142), with an individual range of 0.53% (1/188) to 48.8% (61/125). The average time from shunt placement to SRC diagnosis ranged from 0.25 years to 4.6 years. 61% (65/110) of cases included only one suture, 88% (25/28) of these involved the sagittal suture, and those cases with multiple fusions also had 98% involvement of the sagittal suture (45/46). Overall, 94% (1783/1888) of patients had a fixed shunt placed. CONCLUSIONS: Shunt-related craniosynostosis is likely an underreported complication in the treatment of hydrocephalus. Older age at shunt placement, increased number of shunt revision procedures, and lower valve pressure settings may be risk factors for SRC development. Results also indicate that craniosynostosis can develop months to years after shunting. Future quality studies with standardization of data reporting processes are warranted to investigate this clinical problem.

Estimated Time of Arrival: Impact of Healthcare Disparities on Access to and Outcomes of Multidisciplinary Cleft Lip and Palate Care.

OBJECTIVE: To determine the impact of sociodemographic and clinical factors on patient presentation into the cleft care pathway and determine how delayed interventions may affect post-surgical outcomes. DESIGN: Retrospective study. SETTING: Multidisciplinary craniofacial clinics of two university hospitals. PATIENTS, PARTICIPANT: 135 patients with cleft lip and/or palate. INTERVENTIONS: Primary cheiloplasty, primary palatoplasty. MAIN OUTCOME MEASURES: Age at initial presentation, age at first surgery, lag time, delayed surgery, rate of return to the emergency department (ED), readmission rate, reoperations, and oronasal fistula development. RESULTS: Patients referred by OBGYN who underwent cheiloplasty had an earlier age at initial presentation (p < 0.01), earlier age at first surgery (p = 0.01), and a shorter lag time (p < 0.01) compared to children from other referral pathways. African American children had an older age at first surgery (p = 0.01) and a longer lag time (p = 0.02) when compared to non-African American children. Children with syndromes had an older age at first surgery (p < 0.01) and a longer lag time (p < 0.01) than children without syndromes. Patient race, cleft type, and syndromic status increased the odds of receiving delayed surgery. Patients who received delayed palatoplasty returned to the ED at a higher rate than patients who received non-delayed palatoplasty (p = 0.02). CONCLUSIONS: Our data suggest that referral source, race, and syndromic status influence the timeliness of cleft care. Surgeons should develop strong referral networks with local OBGYNs and hospitals to allow for an early entry into the cleft care pathway.

Management of Total Frontal Bone Loss After Surgery for Craniosynostosis: The Modified Visor Bone Flap With Brain Cage.

Complications after craniosynostosis surgery occur in 11% to 36% of cases and may be precipitated by poor soft tissue coverage and concomitant exposure of non-sterile regions; sequelae may result in infection, osteomyelitis, and bone loss requiring complex reconstruction. In the pediatric population, autologous cranioplasty remains the gold standard due to growth potential and a more favorable complication profile than synthetic cranioplasty. Virtual surgery planning (VSP) and computer-assisted design (CAD)/computer-assisted manufacturing (CAM) technology can be utilized to create innovative, patient-specific autologous solutions, similar to the approach with synthetic cranioplasty. A novel surgical approach using VSP was used for an 18-month-old female with near total bifrontal bone loss. Surface area measurements were used to determine the amount of bone available to replace the infected frontal bone. VSP was utilized to determine the most efficient construct configuration possible to achieve maximal coverage via calculation of cranial bone surface area measurements. Surgical reconstruction of the defect was planned as a Modified Visor Bone Flap with Posterior Brain Cage. A construct was fashioned from available cranial bone struts to obtain widespread coverage. 3D Recon images from before and after surgery demonstrate almost complete re-ossification of the cranial vault with significant resulting clinical improvement. Reconstruction of total frontal bone loss is possible by utilizing this technique. VSP can improve the safety and efficiency of complex autologous cranial bone reconstructions. We propose a treatment algorithm to address the problem of near total frontal bone loss in young children for whom alloplastic implants are not suitable.

Comparative Analysis of 2D and 3D Metrics for Evaluation of Postoperative Outcomes Following Endoscopic Suturectomy for Sagittal Craniosynostosis.

To assess whether 3-dimensional (3D) volumetrics can be used to track and evaluate postoperative course of patients treated with endoscopic suturectomy for nonsyndromic sagittal synostosis, we compared changes in 2-dimensional (2D) measurements along with 3D volumetric correlates throughout the period of helmet therapy. Forty-six patients treated at our institution with endoscopic suturectomy for sagittal synostosis were retrospectively reviewed. Head circumference (HC), cephalic index (CI), and total cranial volumes (TCVs) were measured at 3 timepoints following surgery using optical surface scans obtained for helmet orthotics. All measurements showed significant differences between timepoints on the analysis of variance ( P <0.001). There was a significant correlation between CI and TCV (r=0.35, P =0.004) and between HC and TCV (r=0.81, P <0.001). The normalized rate of change over the course of treatment was significantly higher for TCV (36.7%) than for CI (8.8%) and HC (8.4%, P <0.001), with no difference between HC and CI. The authors conclude that 3D metrics were able to reliably follow the course of postoperative 2D metrics. There was a direct and linear correlation between HC and CI with TCV. Total cranial volumes showed the highest rate of sustained change at every timepoint. Although CI and HC plateau after the first measurement, TCV continues to adapt over the course of treatment. These results demonstrate the feasibility and value of volumetrics from 3D imaging to provide a more comprehensive evaluation of postoperative surgical outcomes than traditional 2D metrics without the ionizing radiation traditionally utilized for CT to obtain 3D metrics.

Closing the Gap: A Systematic Review and Meta-Analysis of Enhanced Recovery After Surgery Protocols in Primary Cleft Palate Repair.

OBJECTIVE: Assess the evidence for Enhanced Recovery After Surgery (ERAS) protocols in the cleft palate population. DESIGN: A systematic review of MEDLINE, Embase, Cochrane, and CINAHL databases for articles detailing the use of ERAS protocols in patients undergoing primary palatoplasty. SETTING: New York-Presbyterian Hospital. PATIENTS/PARTICIPANTS: Patients with cleft palate undergoing primary palatoplasty. INTERVENTIONS: Meta-analysis of reported patient outcomes in ERAS and control cohorts. MAIN OUTCOME MEASURE(S): Methodological quality of included studies, opioid use, postoperative length of stay (LOS), rate of return to emergency department (ED)/readmission, and postoperative complications. RESULTS: Following screening, 6 original articles were included; all were of Modified Downs & Black (MD&B) good or fair quality. A total of 354 and 366 were in ERAS and control cohorts, respectively. Meta-analysis of comparable ERAS studies showed a difference in LOS of 0.78 days for ERAS cohorts when compared to controls (P < .05). Additionally, ERAS patients utilized significantly less postoperative opioids than control patients (P < .05). Meta-analysis of the rate of readmission/return to ED shows no difference between ERAS and control groups (P = .59). However, the lack of standardized reporting across studies limited the power of meta-analyses. CONCLUSIONS: ERAS protocols for cleft palate repair offer many advantages for patients, including a significant decrease in the LOS and postoperative opioid use without elevating readmission and return to ED rates. However, this analysis was limited by the paucity of literature on the topic. Better standardization of data reporting in ERAS protocols is needed to facilitate pooled meta-analysis to analyze their effectiveness.

"Healthcare Disparities in the Care of Children with Craniosynostosis in the United States: A Systematic Review".

BACKGROUND: Healthcare inequity is a pressing concern in pediatric populations with craniofacial conditions. Little is known about the barriers to care affecting children with craniosynostosis. This systematic review investigates disparities impacting care for children with craniosynostosis in the U.S. METHODS: A comprehensive literature search was performed in the following databases from inception to December 2022: Ovid MEDLINE, Ovid EMBASE, and The Cochrane Library. Studies were screened for eligibility by two authors. All original articles that focused on disparities in access, treatment, or outcomes of craniosynostosis surgery were included. Studies describing disparities in other countries, those not written English, and review articles were excluded (Figure 1). RESULTS: An initial database search revealed 607 citations of which 21 met inclusion criteria (Figure 1). All included studies were retrospective reviews of databases or cohorts of patients. The results of our study demonstrate that barriers to access in treatment for craniosynostosis disproportionally affect minority children, children of non-English speaking parents and those of lower socioeconomic status or with Medicaid. Black and Hispanic children, non-English speaking patients, and children without insurance or with Medicaid were more likely to present later for evaluation, ultimately undergoing surgery at an older age. These patients were also more likely to experience complications and require blood transfusions compared to their more privileged, white peers. CONCLUSIONS: There is a discrepancy in treatment received by minority patients, patients with Medicaid, and those who are non-English speaking. Further research is needed to describe the specific barriers that prevent equitable care for these patients.

Pediatric Pain and Pain Management After Ambulatory Plastic Surgery: Trends in the Age of Opioid Awareness.

BACKGROUND: Overprescribing by physicians has been shown to be a major contributor to the opioid epidemic. Although pediatric ambulatory plastic surgery patients are commonly prescribed opioids for postoperative pain control, there is a lack of evidence for their necessity. This study aimed to investigate the role of prescribed narcotics in the ambulatory pediatric plastic surgery setting. METHODS: All assenting patients/guardians, ages 0 to 17 years, who underwent an ambulatory plastic surgery procedure by 1 attending surgeon from March 2018 to March 2019, were asked to participate in the study. A questionnaire was distributed at the first postoperative visit to interrogate postoperative pain, management, and narcotic use. RESULTS: A total of 95 patients/guardians completed the questionnaire. Seventy-eight percent (74) of patients picked up the narcotic medication, with 33% (31) taking at least 1 dose of narcotics, and only 9% (9) taking 4 or more doses. Patients overall found no difference in efficacy of the narcotics versus nonprescription analgesics (3.93/5 and 4.31/5, P = 0.11). Age was a significant predictor, with older patients requiring more narcotics (odds ratio, 1.12; 95% confidence interval, 1.02-1.24; P = 0.019). The type of surgery a patient underwent was not a significant predictor of the amount of narcotic used. Few patients knew how to properly dispose of the excess narcotics, with almost 50% still having it stored in their homes. CONCLUSIONS: This study demonstrates that the majority of pediatric ambulatory plastic surgery patients do not require narcotic pain medications and experience adequate pain relief with over-the-counter analgesics. Importantly, education on proper disposal of narcotic medications may be a simple, yet effective target to decrease opioid availability for abuse.

Examining the Role of Early Diagnostic Imaging for Craniosynostosis in the Era of Endoscopic Suturectomy: A Single Institution Experience.

ABSTRACT: Endoscopic suturectomy is a minimally invasive surgical treatment for single-suture craniosynostosis in children between 1 and 4 months of age. This study sought to characterize the role played by diagnostic imaging in facilitating early surgical management with endoscopic suturectomy. The authors also characterized the overall diagnostic utility of imaging in patients assessed for abnormal head shape at their institution, regardless of surgical status. A retrospective cohort of children diagnosed with singlesuture synostosis undergoing either primary endoscopic suturectomy or open calvarial reconstruction at the authors' institution from 1998 to 2018 was first reviewed. Of 132 surgical patients, 53 underwent endoscopic suturectomy and 79 underwent open repair. There was no difference in the proportion of endoscopic and open surgery patients imaged preoperatively before (24.5% versus 35.4%; P = 0.24) or after (28.3% versus 25.3%; P = 0.84) craniofacial assessment. Stratifying by historical epoch (1998-2010 versus 2011-2018), there was also no difference found between preoperative imaging rates (63.6% versus 56.4%; P = 0.35). In another cohort of 175 patients assessed for abnormal head shape, 26.9% were imaged to rule out craniosynostosis. Positive diagnostic imaging rates were recorded for suspected unicoronal (100%), metopic (87.5%), lambdoidal (75.0%), sagittal (63.5%), multisuture (50%), and bicoronal (0%) synostosis. The authors conclude that the use of diagnostic imaging at their institution has not increased despite higher utilization of endoscopic suturectomy and need for expedient identification of surgical candidates.However, their results suggest that imaging may play a greater diagnostic role for suspected bicoronal, sagittal, and multi-sutural synostosis among sutural subtypes of synostosis.

A Retrospective Analysis of the Impact of Health Disparities on Treatment for Single Suture Craniosynostosis Before and During the Pandemic.

Candidates for endoscopic treatment for craniosynostosis must be less than 6 months old. Given the narrow window of eligibility, there is potential for barriers to access to impact the type of surgery a patient receives. We hypothesized that COVID may worsen these potential disparities.Charts were reviewed for children with single suture craniosynostosis from January 2014 to March 2020 (pre-COVID cohort) and March 2020 to September 2021 (COVID cohort) from 2 academic centers.110 children were in the pre-COVID group; 56 were treated open and 54 endoscopically. Of the 44 patients in the COVID cohort, 20 were treated endoscopically and 24 were treated open. There was no significant difference in age of presentation or age of surgery across cohorts when considering type of surgery performed. Rate of endoscopy in the pre-COVID versus COVID cohorts was not significantly different. In both the pre-COVID and COVID cohorts there were significant differences between age of presentation, age of surgery, and type of surgery received based on race-black and Hispanic patients presented later, had surgery later, and underwent open surgery more frequently than their white/Asian counterparts (P = .0095, P = .0067).The pandemic did not alter age of presentation/age of surgery or rates of patients receiving endoscopic surgery in patients with single suture craniosynostosis. There was no relationship between insurance status and type of surgery received during the pandemic, however Hispanic and black patients presented later and underwent surgery at an older age compared to white/Asian patients as they did pre-pandemic.

Impact of health disparities on treatment for single-suture craniosynostosis in an era of multimodal care.

Craniosynostosis is the premature fusion of the skull. There are two forms of treatment: open surgery and minimally invasive endoscope-assisted suturectomy. Candidates for endoscopic treatment are less than 6 months of age. The techniques are equally effective; however, endoscopic surgery is associated with less blood loss, minimal tissue disruption, shorter operative time, and shorter hospitalization. In this study, the authors aimed to evaluate the impact of race/ethnicity and insurance status on age of presentation/surgery in children with craniosynostosis to highlight potential disparities in healthcare access. Charts were reviewed for children with craniosynostosis at two tertiary care hospitals in New York City from January 1, 2014, to August 31, 2020. Clinical and demographic data were collected, including variables pertaining to family socioeconomic status, home address/zip code, insurance status (no insurance, Medicaid, or private), race/ethnicity, age and date of presentation for initial consultation, type of surgery performed, and details of hospitalization. Children with unknown race/ethnicity and those with syndromic craniosynostosis were excluded. The data were analyzed via t-tests and chi-square tests for statistical significance (p < 0.05). A total of 121 children were identified; 62 surgeries were performed open and 59 endoscopically. The mean age at initial presentation of the cohort was 6.68 months, and on the day of surgery it was 8.45 months. Age at presentation for the open surgery cohort compared with the endoscopic cohort achieved statistical significance at 11.33 months (SD 12.41) for the open cohort and 1.86 months (SD 1.1473) for the endoscopic cohort (p < 0.0001). Age on the day of surgery for the open cohort versus the endoscopic cohort demonstrated statistical significance at 14.19 months (SD 15.05) and 2.58 months (SD 1.030), respectively. A statistically significant difference between the two groups was noted with regard to insurance status (p = 0.0044); the open surgical group comprised more patients without insurance and with Medicaid compared with the endoscopic group. The racial composition of the two groups reached statistical significance when comparing proportions of White, Black, Hispanic, Asian, and other (p = 0.000815), with significantly more Black and Hispanic patients treated in the open surgical group. The results demonstrate a relationship between race and lack of insurance or Medicaid status, and type of surgery received; Black and Hispanic children and children with Medicaid were more likely to present later and undergo open surgery.

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

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

Analysis of the Sonopet Ultrasonic Bone Aspirator to Traditional Instrumentation for Endoscopic Suturectomy for Craniosynostosis.

OBJECTIVE: The goal of endoscopic treatment for craniosynostosis is to remove the fused suture and achieve calvarial remodeling with external orthosis. To reduce the need for secondary surgery and to minimize blood loss, instruments that maximize bone removal while minimizing blood loss and risk of dural injury are evolving. The authors therefore assess the safety and efficacy of the Sonopet Ultrasonic Bone Aspirator (UBA) (Stryker, Kalamazoo, MI) for endoscopic suturectomy compared to traditional instrumentation at our institution. METHODS: Retrospective chart review of consecutive endoscopic suturectomies performed from 2011 to 2019 at Weill Cornell Medical Center was conducted, including demographics, cephalic index, surgical indications, operative time, cosmetic and functional results, complications, estimated blood loss (EBL), re-operation rate, length of stay, and length of helmet therapy. These variables were then compared between the Sonopet and non-Sonopet cohorts. RESULTS: Of the 60 patients who underwent endoscopic suturectomy, 16 cases (26.7%) utilized the Sonopet. Mean operative time was 2.8 ±â€Š0.4 hours in the Sonopet group, compared to 3.2 ±â€Š1.2 hours (P = 0.05) without the Sonopet. EBL was 17.8 ±â€Š23.9 cc versus 34.7 ±â€Š75.5 cc (P = 0.20) with versus without the Sonopet respectively. Length of stay and duration of helmet therapy were similar in both groups, ranging from 1 to 3 days (P = 0.68) and 7.25 to 12 months (P = 0.30) respectively. There were no reoperations in the Sonopet group with a mean follow up of 9.18 months. There were 3 reoperations in the non-Sonopet group with a mean follow up of 11.3 months. Among the cases utilizing the Sonopet, 13 (81%) were metopic and three (19%) were coronal synostoses. Of the non-Sonopet cases, 27 (61%) were sagittal, 8 (18%) were metopic, 7 (16%) were coronal, and 2 (5%) were lambdoid synostoses. CONCLUSIONS: The use of the Sonopet resulted in a mean decrease in operative time at our institution (P = 0.18). Lower EBL and reoperation rates with comparable LOS and helmet therapy duration were also seen. This modality should be considered a safe and effective adjunct in appropriate endoscopic craniosynostosis cases.

Incidence of Gastroesophageal Reflux Disease in Children With Cleft Lip and Palate and an Evaluation of Its Impact on Weight Gain.

Patients with cleft lip and/or palate have higher rates of failure to thrive (FTT), decreased growth, and more often experience feeding difficulties as compared with the general pediatric population (J Child Health Care. 2014;18:72-83). Although insufficient nursing, excessive air intake, and incorrect feeding methods have been established in the literature, the role of gastroesophageal reflux disease (GERD) as a contributing factor in cleft patients has not been thoroughly examined. Presently, there is a paucity of literature analyzing the incidence and effect of GERD on this unique population. Furthermore, no studies have evaluated the effect of GERD therapy on improvement of weight gain and FTT in cleft patients. The purpose of this retrospective review was to identify the incidence of GERD in the orofacial cleft population and to see if appropriate treatment was effective in improving weight gain. Fifty patients with cleft lip, cleft lip and palate, and isolated cleft palate were identified from a single surgeon's experience at a large academic medical center from 2015 to 2019. The data show that a significantly higher percentage of patients with cleft lip/and or palate have clinical evidence of GERD, which required treatment as compared with published reports of less than 1% in the noncleft population. The data also suggest that the patients diagnosed with GERD who received pharmacologic treatment showed improved weight gain as compared with those who did not. Given our findings, the diagnosis of GERD should be considered in orofacial cleft patients exhibiting signs of feeding difficulty or those with FTT. The early diagnosis and treatment of GERD in patients with orofacial clefts may improve weight gain.

Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant.

Patients with syndromic craniosynostosis (CS) can present with both intracranial and extracranial manifestations. Extracranial features include proptosis, exorbitism, and midface hypoplasia. Intracranial manifestations can include elevated intracranial pressure (ICP), brainstem compression, foramen magnum stenosis or jugular foramen hypoplasia with resultant venous hypertension and anomalous drainage. While fronto-orbital advancement, cranial vault remodeling, and posterior fossa decompression are standard surgical approaches to normalizing orbito-cranial volume and morphology, associated hydrocephalus, anomalous venous drainage, and tonsillar herniation often affect the timing, safety, and selection of corrective interventions. The surgical decision-making to circumvent venous emissaries, effectively time treatment of hydrocephalus, and address posterior versus anterior pathology primarily has not been widely described in the literature, and is important in the development of guidelines in these complex cases. In this report, we describe the surgical management of a patient with Jackson-Weiss syndrome presenting with delayed, but rapidly progressive bilateral lambdoid CS, severe proptosis, midface hypoplasia, elevated ICP, hydrocephalus, tonsillar ectopia, and severe venous hypertension with anomalous drainage. We review the literature related to management of complex synostosis and present our surgical decision-making in the setting of complex syndromic synostosis to aid in the formation of guidelines toward approaching these cases.

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

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

Impact of a Multidisciplinary Craniofacial Clinic for Patients With Craniofacial Syndromes on Patient Satisfaction and Outcome.

OBJECTIVE: Multidisciplinary clinics are becoming widely utilized. Given the number of patients with craniofacial syndromes evaluated at our institution, and the burden of assessment by multiple subspecialists, we created an American Cleft Palate-Craniofacial Association-certified Craniofacial Multidisciplinary Clinic (CMC) composed of a nurse practitioner, neurosurgeon, plastic surgeon, otolaryngologist, oromaxillofacial surgeon, geneticist, pulmonologist, occupational therapist, dentist, and child life specialist to improve patient experience, lessen the burden of assessment, decrease time to surgery, and improve patients' understanding of the diagnosis and treatment plan specifically for patients with complex craniofacial syndromes. We reviewed the impact of this clinic after 1 year of implementation. DESIGN: Retrospective review was performed to identify patients with craniofacial syndromic diagnoses seen by the neurosurgery department before and after implementation of the CMC from February 2017 to present. SETTING: The CMC is an outpatient clinic based in a tertiary care academic institution. PATIENTS: Chart review was performed to identify demographic, diagnostic, clinical, and treatment data. We assessed clinic experience, and the impact on quality of clinical and surgical care was assessed via survey. We compared this cohort to patients with similar craniofacial syndromes treated prior to the CMC. Thirty patients seen at the CMC were identified, and data from a comparable cohort of 30 patients seen prior to the clinic's inception was reviewed. RESULTS: Our CMC survey response rate was 67% (n = 20/30) for the CMC patients. Second opinions sought by parents prior to CMC was higher (mean = 0.85, range: 0-3) than for patients seen at the CMC (mean = 0.16, range: 0-1). Mean time to surgery before the CMC was 10.1 months (range: 1-15) compared to 4 months (range: 3-5) after implementation. Parents agreed that they felt well-informed about their diagnosis (n = 18/20, 90%), and that the presence of a plastic surgeon (19/20, 95%) and a nurse practitioner (17/20, 85%) were valuable in coordination of their care. Following surgery, 76% (n = 13/17) of patients who received surgery were happy with the outcome, 76% (n = 13/17) were happy with the appearance of the scar, and 95% (n = 19/20) would recommend the CMC to others. CONCLUSION: Multidisciplinary evaluation of patients with complex craniofacial conditions provides comprehensive, efficient, and effective care, as well as improved parent satisfaction and knowledge base.

A Comparison of Early Versus Late Prenatal Magnetic Resonance Imaging in the Diagnosis of Cleft Palate.

BACKGROUND: Prenatal ultrasound is the standard modality to screen for fetal craniofacial malformations, but can be limited by sonographer experience, oligohydramnios, and maternal obesity. Fetal magnetic resonance imaging (MRI) can be used as an adjunct to ultrasound, but there is a paucity of literature on its performance. The objective of this study was to examine the accuracy of fetal MRI for prenatal diagnosis of craniofacial abnormalities in an at-risk patient population and to determine if accuracy is maintained before and after 24 weeks gestational age (GA). METHODS: This was a retrospective review of a single-center fetal MRI database including cases from March 2011 to November 2018. All cases were referred for MRI due to a suspected orofacial cleft or micrognathia upon screening ultrasound. Magnetic resonance imaging was performed and interpreted by dedicated fetal MRI radiologists. Prenatal findings were correlated with postnatal anatomy. RESULTS: Sixty-one cases were identified. Ten were lost to follow-up and 9 underwent termination of pregnancy. Among the remaining 42 cases, MRI possessed a sensitivity of 91.7% and negative predictive value (NPV) of 90% for prenatal diagnosis of cleft palate. When performed at early GA, fetal MRI (n = 20) demonstrated sensitivity and NPV of 100% for cleft palate diagnosis. For cleft lip, MRI had 93.1% sensitivity and 86.7% NPV without significant decrease in accuracy at early GA. For micrognathia, MRI demonstrated 100% sensitivity and NPV overall, as well as at early and late gestational ages. CONCLUSIONS: Fetal MRI is an accurate method for prenatal diagnosis of cleft palate, cleft lip, and micrognathia. Furthermore, it remains highly accurate even when performed before 24 weeks GA. We advocate the use of fetal MRI as an adjunct imaging modality to standard ultrasound for the evaluation of suspected fetal craniofacial anomalies to provide complete and accurate counseling to prospective parents and facilitate the planning of appropriate postnatal care.

Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant.

Little is currently known about the mechanisms by which pathogenic variants of FGFR2 produce changes in the FGFR protein and influence the clinical presentation of affected individuals. We report on a patient with a de novo pathogenic variant of FGFR2 and a phenotype consistent with Jackson-Weiss syndrome who presented with delayed, rapidly progressive multisutural craniosynostosis and associated medical complications. Using 3-dimensional modeling of the FGFR protein, we provide evidence that this variant resulted in abnormal dimerization and constitutive activation of FGFR, leading to the Jackson-Weiss phenotype. Knowledge regarding the correlation between genotype and phenotype of persons with FGFR2-related craniosynostosis has the potential to allow for anticipation of medical complications, institution of early treatment, and improved clinical outcomes.

Incidence and risk factors of groin lymphocele formation after venoarterial extracorporeal membrane oxygenation in cardiogenic shock patients.

OBJECTIVE: Venous-arterial extracorporeal membrane oxygenation (VA-ECMO) is a well-established therapy for refractory cardiopulmonary failure. Femoral cannulation offers a quick and effective means of providing circulatory support but is not without complication. Inflammation or lymphatic disruption at the site of cannulation can cause the formation of lymphoceles, leading to the patient's discomfort and possibly necessitating intervention. The purpose of this study was to evaluate the incidence of in-hospital lymphocele formation in VA-ECMO patients and to identify predictors for their development. METHODS: We conducted a single-center retrospective review of 192 patients who underwent femoral VA-ECMO insertion and subsequent decannulation from March 2007 to August 2016 for cardiogenic shock. Baseline demographics, risk factors, and cannulation strategies were examined. Groin lymphocele formation was assessed as the primary outcome. RESULTS: Median age was 58 years (interquartile range, 48-67 years) with a median duration of support of 4 days (interquartile range, 2-6 days). Lymphocele formation was identified in 31 patients (16%). Patients who developed lymphoceles were more likely to have post-heart transplantation primary graft dysfunction (PGD) as an indication for ECMO support compared with those who did not (54.2% vs 8%; P < .001). ECMO duration was similar between groups, but lymphocele patients were more likely to have undergone femoral cutdown procedures (68% vs 42%; P = .010). Compared with those PGD patients who did not develop lymphoceles, PGD lymphocele patients had higher rates of diabetes mellitus preoperatively (62% vs 8%; P = .006). Thirteen (42%) patients required surgical incision and drainage, and 4 of these patients (31%) required repeated surgical intervention. CONCLUSIONS: Lymphocele formation is relatively common after femoral VA-ECMO. There was a significantly higher incidence of lymphocele formation in diabetic patients requiring support for PGD after heart transplantation.