Faculty Bibliography

Background/Purpose: We present the first long-term outcomes analysis of the nasoalveolar molding (NAM) treatment protocol on patients with a cleft followed from birth to facial maturity. Methods/Description: Single-institution retrospective review of all patients with a cleft who underwent NAM between the years 1990 and 2000. All study patients completed cleft care treatment at the same institution and were followed by the same team members. Our institution's treatment protocol offers NAM to patients with a significant cleft nasal deformity and/or widely displaced alveolar segments. All patients underwent primary cleft lip and nasal repair prior to the age of 6 months. Gingivoperiosteoplasty (GPP) is performed, when possible, at the time of lip repair. Cleft palate repair is performed by 1 year of age. Collected data include surgical and orthodontic outcomes of cleft care such as cleft lip and palate repair, GPP, alveolar bone grafting (ABG), speech surgery for velopharyngeal insufficiency (VPI), palatal fistula repairs, orthognathic surgery, and revision surgery to the nose and/or lip.
Result(s): A total of 135 patients met the inclusion criteria. Mean length of follow-up was 18.8 years. Eighty-nine patients presented with a unilateral cleft (UNI) and 46 with a bilateral cleft (BI); 84% (113/135) of patients underwent GPP (UNI: 78% [69/89]; BI: 96% [44/46]), 43% (58/135) of patients underwent ABG (UNI: 40% [36/89]; BI: 48% [22/46]), 18% (24/135) of patients underwent speech surgery for VPI (UNI: 14% [12/89]; BI: 26% [12/46]), 3% (4/135) of patients underwent palatal fistula repair (UNI: 0% [0/89]; BI: 9% [4/46]), 31% (42/135) underwent orthognathic surgery (UNI: 22% [20/89]; BI: 48% [22/46]), and 11% (15/135) underwent revision surgery to lip, nose, or both prior to facial maturity (UNI: 9% [8/89]; BI: 15% [7/46]]. Of the patients who underwent GPP, 61% (69/113) did not require ABG (UNI: 65% [45/69]; BI: 55% [24/44]) and 42% (48/113) required neither ABG nor orthognathic surgery (UNI: 51% [35/69]; BI: 30% [13/44]).
Conclusion(s): Clinical outcomes of the NAM treatment protocol from birth to facial maturity demonstrate a low rate of revision surgery to the lip and nose, as well as a low fistula and VPI rate. The frequency of orthognathic surgery reported in this study is consistent with published data. In addition, 42% of patients who underwent NAM with GPP required neither ABG nor orthognathic surgery

Background/Purpose: Le Fort I advancement surgery is challenging in patients with clefts because of the palatal scar tissues. In this study, we investigated the outcome of Le Fort I advancement surgery (mild, moderate, and severe groups) and 1-year skeletal stability in patients with cleft lip and palate. Methods/Description: A retrospective chart review was performed to identify patients with nonsyndromic unilateral or bilateral cleft lip and palate who underwent maxillary Le Fort I advancement at skeletal maturity from 2013 to 2019. To satisfy the inclusion criteria, all patients had to have diagnostic quality cone beam computed tomography (CBCT) prior to surgery (T0), immediately postoperative (T1), and at 1-year follow-up (T2). A total of 59 patients (unilateral n = 34, bilateral n = 25) who underwent Le Fort I advancement was identified. Nineteen of these 59 patients were excluded due to insufficient radiographic records; thus, 40 patients with complete records were included in the study. The sample was comprised of 9 females and 31 males, with an average age of 19.1 +/- 3.21 years at the time of the surgery. Lateral cephalograms were extracted, traced, and superimposed using Dolphin Imaging software (V 11.95). Horizontal surgical movement (T0-T1) and postoperative relapse (T1-T2) at skeletal and dental level were quantified as linear changes at point A and upper incisor edge (U1-tip), respectively. Patients were divided into 3 groups according to the severity of surgical movement: mild (<5 mm, n = 9), moderate (5-10 mm, n = 20), and severe (>10 mm, n = 11). The statistical analysis was performed using 2-way repeated-measures ANOVA to test the difference of surgical movements and postoperative relapse between groups.
Result(s): The mean advancement (T0-T1) of all patients at point A was 8.1+/-2.8 mm and at U1-tip was 7.7+/-2.6 mm. In the mild, moderate, and severe groups, the mean advancement at point A were 4.6 +/- 1.3 mm, 7.7+/-1.1 mm, and 11.6+/-1.2 mm, and at U1-tip were 5.7+/-2.9 mm, 7.4 +/- 1.3 mm, and 10 +/- 2.6 mm, respectively. There were significant skeletal and dental advancements in all the 3 groups following Le Fort I surgery (P < .0001). At 1-year follow-up, the mean relapse (T1-T2) at point A was 1.2 +/- 1.1 mm and at U1-tip was 0.07 +/- 1.9 mm. When analyzed within the mild, moderate, and severe groups, the mean relapse at point A were 0.8 +/- 0.7 mm, 1.2 +/- 0.9 mm, and 1.9+/-1.5 mm and at U1-tip were -0.4+/-1.6 mm, 0.4+/-2.1 mm, and -0.2 +/- 1.5 mm, respectively. There was no significant difference in the relapse amount between the mild, moderate, and severe groups at skeletal and dental components (P > .05).
Conclusion(s): Le Fort I advancement surgery successfully corrected maxillary hypoplasia in patients with cleft lip and palate in all the 3 groups. This study also demonstrated that larger advancement in the severe group can result in equivalent skeletal stability when compared to the mild and moderate advancement. Though mild skeletal relapse was observed in all the 3 groups, none of the patients had to be reoperated

Background/Purpose: Our study quantifies changes in skeletal, soft tissue profile, and globe position in patients with syndromic craniosynostosis after Le Fort I + III (LF I + III) surgery. Methods/Description: Patients with syndromic craniosynostosis who underwent LF I + III at the time of facial maturity were followed for at least 1 year. Each lateral cephalometric radiograph was traced using Dolphin Imaging software and superimposed at the sella. Changes in positions of the different landmarks at T0 (preoperatively), T1 (immediate postoperatively), and T2 (1 year postoperatively) were measured by the software. Sixty-seven soft tissue and skeletal landmarks were digitized and measured. LF III skeletal changes were measured by changes in lateral orbit and orbitale. LF I skeletal changes were measured at the A point and U1. Corresponding soft tissue profile and globe position were studied. All data were measured along the x-axis.
Result(s): Twelve patients included in our study have the following syndromes: Crouzon (n = 6), Pfeiffer (n = 2), Apert (n = 1), Antley-Bixler (n = 1), cleidocranial dysplasia (n = 1) and frontonaso dysplasia (n = 1). Nine patients had previous history of LF III distraction. Standard descriptive statistics was used. Data were analyzed using paired T test. Lateral orbit advanced 5.49 mm (T0-T1) on average, with a P value of 1.3-5, and 5.94 mm (T0-T2) on average; 0.45 mm (T1-T2) change with a P value of .96 suggests the lateral orbit is stable. Similar advancement at orbitale is observed at 5.68 mm (T0-T1) and 6.42 mm (T0-T2). The globe moved anteriorly by 1.98 mm (T0-T1) with a P value of .025 and anteriorly by 0.944mm(T0-T2). The change between T2 and T1 is 1.04 mm (P value: .26), which suggests the globe moved backward after postsurgical swelling subsided. The ratios of movement (globe to lateral orbit) between T0-T1 and T0-T2 are 31% and 16%, respectively. The decrease in ratio can be attributed to the reduction in soft tissue swelling at T2. Restoring position of the globe relative to the lateral orbit decreases the risk of exposure keratitis, keratoconjunctivitis sicca, and corneal ulceration. Anterior nasal spine and point A were advanced by 9.38 and 10.08 mm, respectively, between T0 and T1, and 9.01 mm and 8.51 mm, respectively, between T1 and T2. At the occlusal level, U1 advanced 10 mm and L1 moved back 1.45 mm between T0 and T1. Menton moved back 1.25 mm (T0-T1) but advanced by 2.48 mm (T0-T2). This change in direction is due to splint use at T1 as it rotates mandible clockwise.
Conclusion(s): In our cohort, LFI + III surgery improved both midface deficiency and proptosis in those with syndromic craniosynostosis.Combined Le Fort I + III surgery allows surgeons to perform differential corrections of the midface at the orbital and the dentition level. This is ideal for proptosis correction and establishing optimal jaw relationship

BACKGROUND:There is no quantitative evidence supporting one unilateral cleft lip (UCL) repair technique over the other with regard to scarring. We sought to evaluate the difference between the extended Mohler and Millard techniques, using 3 scar assessment scales. METHODS:Postoperative frontal and basal photographs of patients undergoing UCL repair were reviewed. Three validated scar assessment scales were used: the Manchester Scar Scale (MSS), modified scar-rating scale (MSRS), and Stony Brook Scar Evaluation Scale. Lip and nose scars were rated by 5 independent raters using each of the scales. Interrater reliability was assessed using the intraclass correlation coefficient (ICC). RESULTS:Assessment of 116 images for 58 consecutive patients undergoing UCL repair (36 extended Mohler, 22 Millard) was performed. Interrater reliability was excellent for lip scars (ICCs, 0.903 [0.857-0.938] for MSS, 0.913 [0.872-0.944] for MSRS, and 0.850 [0.775-0.902] for SBES) and moderate for nose scar assessment (ICCs, 0.714 [0.579-0.816] for MSS, 0.693 [0.548-0.802] for MSRS, and 0.565 [0.359-0.720] for SBES). No statistically significant difference was found between the extended Mohler and Millard repairs in mean lip scar scores (MSS, 6.983 ± 1.469 vs 6.772 ± 1.175, P = 0.571; MSRS, 5.433 ± 1.530 vs 5.481 ± 1.290, P = 0.902; SBES, 3.633 ± 0.977 vs 3.446 ± 0.995, P = 0.483) or nose scar scores (MSS, 5.644 ± 1.131 vs 5.491 ± 0.689, P = 0.523; MSRS, 4.233 ± 0.987 vs 3.991 ± 0.705, P = 0.320; SBES, 3.933 ± 0.750 vs 4.018 ± 0.486, P = 0.603). CONCLUSIONS:Using 3 validated scar assessment scales, no significant difference was found between the extended Mohler and Millard techniques in terms of lip or nose scars.

BACKGROUND:Facial transplantation introduced a paradigm shift in the reconstruction of extensive facial defects. Although the feasibility of the procedure is well established, new challenges face the field in its second decade. METHODS:The authors' team has successfully treated patients with extensive thermal and ballistic facial injuries with allotransplantation. The authors further validate facial transplantation as a reconstructive solution for irreparable facial injuries. Following informed consent and institutional review board approval, a partial face and double jaw transplantation was performed in a 25-year-old man who sustained ballistic facial trauma. Extensive team preparations, thorough patient evaluation, preoperative diagnostic imaging, three-dimensional printing technology, intraoperative surgical navigation, and the use of dual induction immunosuppression contributed to the success of the procedure. RESULTS:The procedure was performed on January 5 and 6, 2018, and lasted nearly 25 hours. The patient underwent hyoid and genioglossus advancement for floor-of-mouth dehiscence, and palate wound dehiscence repair on postoperative day 11. Open reduction and internal fixation of left mandibular nonunion were performed on postoperative day 108. Nearly 1 year postoperatively, the patient demonstrates excellent aesthetic outcomes, intelligible speech, and is tolerating an oral diet. He remains free from acute rejection. CONCLUSIONS:The authors validate facial transplantation as the modern answer to the classic reconstructive challenge imposed by extensive facial defects resulting from ballistic injury. Relying on a multidisciplinary collaborative approach, coupled with innovative emerging technologies and immunosuppression protocols, can overcome significant challenges in facial transplantation and reinforce its position as the highest rung on the reconstructive ladder. CLINICAL QUESTION/LEVEL OF EVIDENCE/METHODS:Therapeutic, V.

Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic cases remains unknown. We performed exome sequencing of 12 syndromic CS cases and their parents, in whom previous genetic evaluations were unrevealing. Damaging de novo or transmitted loss of function (LOF) mutations were found in 8 genes that are highly intolerant to LOF mutation (P = 4.0 × 10^-8); additionally, a rare damaging mutation in SOX11, which has a lower level of intolerance, was identified. Four probands had rare damaging mutations (2 de novo) in TFAP2B, a transcription factor that orchestrates neural crest cell migration and differentiation; this mutation burden is highly significant (P = 8.2 × 10^-12). Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways; other genes in these pathways have previously been implicated in syndromic CS. Similarly, damaging de novo mutations were identified in genes encoding the chromatin modifier KAT6A, and CTNNA1, encoding catenin α-1. These findings establish TFAP2B as a CS gene, have implications for assessing risk to subsequent children in these families, and provide evidence implicating other genes in syndromic CS. This high yield indicates the value of performing exome sequencing of syndromic CS patients when sequencing of known disease loci is unrevealing.

The surgical treatment of nonsyndromic craniosynostosis is one of the most common procedures performed by craniofacial surgeons. However, for residents and fellows, the high degree of difficulty and complex anatomy may result in slow progress along a steep learning curve. This is particularly important in the context of contemporary academic practice, where work-hour limits and other factors restrict operative exposure and opportunities for trainees to learn. These issues have prompted the development of surgical simulation modalities that, while prevalent in other surgical specialties, have not been fully adopted in reconstructive surgery.Among these resources is the Craniofacial Interactive Virtual Assistant - Professional Edition (CIVA-Pro), a procedural cognition simulator that is free of charge. By integrating 3-dimensional virtual animation, voice over, and high-definition intraoperative video, CIVA-Pro describes cardinal craniofacial surgery procedures in an engaging platform. In this study, a detailed, step-by-step description of the fronto-orbital advancement surgical technique to complement the corresponding CIVA-Pro module was presented. This synergistic combination of multimedia educational resources provides a unique didactic option for current trainees to prepare for surgery.

BACKGROUND:Simulation is progressively being integrated into surgical training, yet its utility in plastic surgery has not been well described. We present a prospective, randomized, blinded trial comparing digital simulation to a surgical textbook for conceptualization of cleft-lip repair. METHODS:Thirty-five medical students were randomized to learning cleft repair using a simulator or textbook. Participants outlined markings for a standard cleft-lip repair before (pre-intervention) and after (post-intervention) 20 minutes of studying their respective resource. Two expert reviewers blindly graded markings according to a 10-point scale, on two separate occasions. Intra-rater and inter-rater reliability were calculated using intra-class correlation coefficients. Paired and independent t-tests were performed to compare scoring between study groups. A validated student satisfaction survey was administered to assess the two resources separately. RESULTS:Intra-rater grading reliability was excellent among both raters for pre-intervention and post-intervention grading (rater 1 ICC=0.94 and 0.95, respectively; rater 2 ICC=0.60 and 0.92, respectively; p<0.001). Mean pre-intervention performances for both groups were comparable (0.82±1.17 vs. 0.64±0.95; p=0.31). Significant improvement from pre-intervention to post-intervention performance was observed in the textbook (0.82±1.17 v. 3.50±1.62; p<0.001) and simulator (0.64±0.95 vs. 6.44±2.03; p<0.001) groups. However, the simulator group demonstrated a significantly greater improvement (5.81±2.01 vs. 2.68±1.49; p<0.001). Participants reported the simulator to be more effective (p<0.001) and a clearer tool (p<0.001), that allowed better learning (p<0.001) than textbooks. All participants would recommend the simulator to others. CONCLUSIONS:We present level I evidence supporting online digital simulation as a superior educational resource for novice learners, compared to traditional textbooks.

Amniotic band sequence is a complex congenital anomaly in which infants with typically no known genetic mutation have bands of maternal amniotic tissue wrapped around body parts, most commonly the limbs and digits. The authors report a novel variation on this presentation in 3 patients from 2 centers with complex craniofacial clefting and amniotic band sequence. They presented with hypertelorism, different forms of complex craniofacial clefting, and bands connecting ipsilateral hands to facial clefts, with digital-facial translocation in 2 cases. These findings support a model in which complex craniofacial clefts result in areas of exposed, sticky, and temporally and spatially coincident mesenchyme within the embryo that are susceptible to adherence of ipsilateral fetal hands. This strongly supports the intrinsic and adhesion theories of the etiology of amniotic band syndrome.

INTRODUCTION/BACKGROUND:Treacher Collins syndrome (TC) and Pierre Robin sequence (RS) are associated with hypoplastic mandible, glossoptosis, and consequent airway obstruction. Although TC and RS are often grouped together, airway outcomes of bilateral mandibular distraction osteogenesis (MDO) have not been specifically studied in TC. The purpose of this study is to report on the clinical outcomes of MDO in the TC patient population. MATERIALS AND METHODS/METHODS:A twenty-year single-institution retrospective review of all patients with TC who underwent bilateral MDO was performed. Twenty-four patients were identified after exclusion due to different diagnoses or insufficient medical records. Data on comorbidities, airway status, MDO operations, and complications were collected. Data were compared with published clinical outcomes in RS and data for 13 RS patients from our institution. RESULTS:Surgical success, defined as prevention of imminent tracheostomy or successful decannulation within 1 year after primary distraction, was observed in 21% of TC patients and 65% of RS patients (P = 0.01). Repeat distraction was necessary for 11 TC patients (46%) and 1 RS patient. Complications were divided into minor, moderate, and major based on need for invasive management. Overall, 67% of TC patients had complications, 20% of which were major. CONCLUSIONS:Clinical outcomes to airway function after MDO are significantly inferior in patients with TC compared with patients with RS. Repeat MDO and longer course to decannulation are more prevalent in patients affected by TC.