Faculty Bibliography

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10^-10), a component of the U2 small nuclear ribonucleoprotein complex, in probands. We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.

Purpose/UNASSIGNED:To describe the clinical features, treatment, and outcomes in patients with complex region pain syndrome (CRPS) following shoulder surgeries. Methods/UNASSIGNED:Three patients were diagnosed with CRPS according to the Budapest criteria. Patients were followed up prospectively at regular intervals for a minimum of 2 years. Demographic data, clinical symptoms, physical examination findings, treatment received, and outcomes were collected and reported. Results/UNASSIGNED:The minimum time interval between surgery and diagnosis was 3 weeks (average, 8 weeks). The index procedures included 2 arthroscopic rotator cuff repairs and 1 open Latarjet. Neurologic pain, muscle spasms, hand and wrist swelling, and joint stiffness were seen in the shoulder, wrist, and hand, but the elbow was spared in all patients. Despite the use of multimodal treatment modalities, the symptoms were refractory to treatment for prolonged periods (range, 6-12 months). Hand and wrist symptoms took an average of 4 months longer than shoulder symptoms to improve. At the latest follow-up (range, 24-26 months), varying degrees of residual hand dysfunction, pain, and inability to make a fist or fully extend the fingers were noted in all 3 patients. Conclusions/UNASSIGNED:CPRS type 1 following shoulder surgery is a disabling condition with a long-protracted clinical course. CRPS can present as early as few weeks after shoulder surgery, with symptoms of neuropathic pain, spasm, and stiffness affecting the entire upper-extremity joints except the elbow. CRPS symptoms resolve earlier in the shoulder compared with the wrist and hand, with pain improving first, followed by recovery of motion and function. Residual stiffness affecting grip function is last to recover and can present up to 2 years after onset of symptoms. Although prompt recognition and multimodal approach are considered the mainstay of treatment, there is no gold standard treatment modality that can reproducibly alter the natural history of CRPS. Level of Evidence/UNASSIGNED:IV, therapeutic case series.

PURPOSE:To evaluate the effect of two surface modifications on early osseointegration parameters of conical implants in a translational pre-clinical model. MATERIALS AND METHODS:), surface energy and contact angle. Subsequently, implants were installed in the ilium crest of nine female sheep (weighing ~65 kg). Torque out, histological and histomorphometric analyses were conducted after 3 and 6 weeks in-vivo. The percentage of bone to implant contact (%BIC) and bone area fraction occupancy within implant threads (%BAFO) were quantified, and the results were analyzed using a general linear mixed model analysis as function of surface treatment and time in-vivo. RESULTS:. Torque-out testing yielded significantly higher values for IMP Sur + AE in comparison to the IMP Sur at 3- (62.78 ± 15 and 33.49 ± 15 N.cm, respectively) and 6-weeks (60.74 ± 15 and 39.80 ± 15 N.cm, respectively). Histological analyses depicted similar osseointegration features for both surfaces, where an intramembranous-type healing pattern was observed. At histomorphometric analyses, IMP Sur + AE implants yielded higher values of BIC in comparison to IMP Sur at 3- (40.48 ± 38 and 27.98 ± 38%, respectively) and 6-weeks (45.86 ± 38 and 34.46 ± 38%, respectively). Both groups exhibited a significant increase in %BAFO from 3 (~35%) to 6 weeks (~44%), with no significant differences between surface treatments. CONCLUSION:Supplemental acid-etching and its interplay with implant thread design, positively influenced the BIC and torque-out resistance at early stages of osseointegration.

INTRODUCTION:We analyzed the perceptions of participants and faculty members in simulation-based comprehensive cleft care workshops regarding comprehensive cleft care delivery in developing countries. METHODS:Data were collected from participants and faculty members in 2 simulation-based comprehensive cleft care workshops organized by Global Smile Foundation. We collected demographic data and surveyed what they believed was the most significant barrier to comprehensive cleft care delivery and the most important intervention to deliver comprehensive cleft care in developing countries. We also compared participant and faculty responses. RESULTS:The total number of participants and faculty members was 313 from 44 countries. The response rate was 57.8%. The majority reported that the most significant barrier facing the delivery of comprehensive cleft care in developing countries was financial (35.0%), followed by the absence of multidisciplinary cleft teams (30.8%). The majority reported that the most important intervention to deliver comprehensive cleft care was creating multidisciplinary cleft teams (32.2%), followed by providing cleft training (22.6%). We found no significant differences in what participants and faculty perceived as the greatest barrier to comprehensive cleft care delivery (P = 0.46), or most important intervention to deliver comprehensive cleft care in developing countries (P = 0.38). CONCLUSIONS:Our study provides an appraisal of barriers facing comprehensive cleft care delivery and interventions required to overcome these barriers in developing countries. Future studies will be critical to validate or refute our findings, as well as determine country-specific roadmaps for delivering comprehensive cleft care to those who need it the most.

SUMMARY:The coronavirus disease of 2019 pandemic became a global threat in a matter of weeks, with its future implications yet to be defined. New York City was swiftly declared the epicenter of the pandemic in the United States as case numbers grew exponentially in a matter of days, quickly threatening to overwhelm the capacity of the health care system. This burgeoning crisis led practitioners across specialties to adapt and mobilize rapidly. Plastic surgeons and trainees within the New York University Langone Health system faced uncertainty in terms of future practice, in addition to immediate and long-term effects on undergraduate and graduate medical education. The administration remained vigilant and adaptive, enacting departmental policies prioritizing safety and productivity, with early deployment of faculty for clinical support at the front lines. The authors anticipate that this pandemic will have far-reaching effects on the future of plastic surgery education, trends in the pursuit of elective surgical procedures, and considerable consequences for certain research endeavors. Undoubtedly, there will be substantial impact on the physical and mental well-being of health care practitioners across specialties. Coordinated efforts and clear lines of communication between the Department of Plastic Surgery and its faculty and trainees allowed a concerted effort toward the immediate challenge of tempering the spread of coronavirus disease of 2019 and preserving structure and throughput for education and research. Adaptation and creativity have ultimately allowed for early rebooting of in-person clinical and surgical practice. The authors present their coordinated efforts and lessons gleaned from their experience to inform their community's preparedness as this formidable challenge evolves.

The double Frost suture is a useful supplement to the reconstruction of ipsilateral upper and lower eyelid defects with full-thickness skin grafts. This technique involves silk traction sutures that overlap the upper and lower eyelids to place them on maximal stretch after placement of 2 full-thickness skin grafts. It has the added benefit of protecting the cornea and compressing both grafts under 1 bolster. The authors illustrate this technique in 2 pediatric cases-a congenital melanocytic kissing eyelid nevus and a periocular burn. Each case resulted in large upper and lower anterior lamellar defects, which were reconstructed with supraclavicular and retroauricular free skin grafts. The double Frost sutures counter vertical cicatricial forces during graft healing, obviating the need for staged procedures. Both described cases resulted in excellent graft survival with minimal contracture.

OBJECTIVE/UNASSIGNED:To compare the prevalence of dental malformations and agenesis in patients who received or did not receive gingivoperiosteoplasty (GPP). DESIGN/UNASSIGNED:Retrospective cohort study. PATIENTS/UNASSIGNED:Review of patients born January 1, 2000, to December 31, 2007, with unilateral cleft lip and alveolus, with or without clefting of the secondary palate, who received GPP and/or secondary alveolar bone grafting (ABG). Patients were included if they had clinical images and dental radiographs available at ages 5 to 9 and 10 to 12 years. Ninety-four patients met the inclusion criteria; 46 treated with GPP, and 48 who did not receive GPP. OUTCOME MEASURES/UNASSIGNED:tests. RESULTS/UNASSIGNED:Cleft side lateral incisors were absent in 54% of GPP patients, compared to 50% in the no-GPP group. Two patients in the GPP group and 1 in the no-GPP group had supernumerary lateral incisors. Most lateral incisors were undersized or peg shaped in both the no-GPP (83.3%) and GPP (71.4%) groups. In the GPP group, 5 (10.9%) patients exhibited central incisor agenesis, and 3 had significant hypoplasia. In the no-GPP group, 4 (8.3%) patients exhibited central incisor agenesis, and 5 (10.5%) significant hypoplasia. These differences were not statistically significant. CONCLUSIONS/UNASSIGNED:Gingivoperiosteoplasty was not associated with increased prevalence of dental malformation or agenesis. When performed appropriately, GPP is a safe treatment technique that does not increase the risk of dental anomalies.

AIM/OBJECTIVE:To assess treatment outcome and 1-year stability of LeFort I advancement in patients with complete cleft lip and palate. METHODS:Thirty-five patients (age 20.65 ± 2.20 years) with unilateral (n = 25) or bilateral (n = 10) complete cleft lip and palate who underwent LeFort I advancement were included.Lateral cephalograms before surgery (T1), immediately postsurgery (T2), and at 1-year follow-up (T3) were superimposed, and the position of anterior nasal spine (ANS), A-point, and U1 Tip assessed using an x, y coordinate system. Differences between landmark positions at the 3-time points were analyzed using paired sample t-tests, with a significance defined as α ≤ 0.05. RESULTS:The mean surgical advancement in the horizontal direction (T2-T1) was 6.50 ± 2.62 mm at ANS (P < 0.001) and 7.05 ± 2.51 mm at A-point (P < 0.001). At a 1-year follow-up (T3-T2), the mean horizontal relapse at ANS was -1.41 ± 1.89 mm (P < 0.001) and -0.79 ± 1.48 mm at A-point (P 0.003). Mean horizontal relapse was 21.7% and 11% of surgical advancement when assessed at ANS and A-point, respectively. The central incisor tip position remained stable during the postsurgical period (0.12 ± 2.11 mm, P 0.732). At A-point, the mean vertical surgical change (T2-T1) was -0.96 ± 2.57 mm (P < 0.001). No significant post-treatment (T3-T2) vertical changes were detected at ANS or A-point. Phenotypic stability was excellent, with all patients maintaining positive overjet at 1-year follow-up. CONCLUSIONS:LeFort I advancement in complete cleft lip and palate is stable, with less than a 2 mm relapse after 1-year. Surgical overcorrection by 10% to 20% is recommended to compensate for the expected skeletal relapse.

Over the past 15 years, landmark achievements have established facial transplantation (FT) as a feasible reconstructive option for otherwise irreparable craniofacial defects. However, as the field matures and long-term outcomes begin to emerge, FT teams around the world are now facing new challenges. Data for this review were identified by searches of the PubMed/MEDLINE database from inception through August 2020. All English-language articles pertaining to FT were included. Significant advances in candidate selection, technology, operative technique, posttransplant care, and immunosuppressive management have contributed to the tremendous expansion of the field, culminating in the execution in the past 3 years of 2 facial re-transplantations, and most recently the world's first successful combined face and double hand transplant in August 2020. Despite these achievements, the allograft donor pool remains limited, with long wait times, requiring surgical experimentation with cross-sex FT. Immunosuppressive management has improved, but significant adverse events continue to be reported. Most recently, the COVID-19 pandemic has placed an unprecedented strain on the healthcare system, with various implications for the practice of reconstructive transplantation. In this article, we provide the most comprehensive and up-to-date FT review, highlighting fundamental lessons learned and recent advancements, while looking toward the challenges ahead. Over the past 15 years, extensive multidisciplinary efforts have been instrumental to the establishment of FT as a feasible reconstructive option. As novel challenges are beginning to emerge, continued collaborative and multispecialty research efforts are needed to further this field.