Faculty Bibliography

Background/Purpose: Nasoalveolar molding (NAM) in combination with primary gingivoperiosteoplasty (GPP) may obviate the need for a secondary alveolar bone graft. While the long-term facial growth following GPP has been well documented, no study has evaluated the transverse growth of the cleft-maxilla following NAM and GPP. Here we report the effects of NAM and GPP on the maxillary transverse dimension in patients with complete unilateral cleft lip and palate (UCLP). Methods/Description: A retrospective single-institution review of nonsyndromic patients with complete unilateral cleft lip and palate born between 2005 and 2010 was completed. Patients were divided into four groups based on their interventions: 1) NAM-GPP with adequate bone formation 2) NAM-GPP without adequate bone formation (requiring ABG) 3) NAM-no GPP (requiring ABG), and 4) No NAM-no GPP control (patients who received primary surgeries outside of our institution). Cone-beam computed tomographic scans (CBCTs) taken at the early-mixed dentition stage, prior to orthodontic intervention, were used to assess the anterior and posterior maxillary transverse dimensions. The transverse discrepancy at the affected and non-affected sides was measured at the level of the primary canines (anterior dimension) and the permanent first molars (posterior dimension) to the maxillary midline. Wilcoxon signed-rank tests were used to compare the transverse dimension of the affected versus non-affected sides within each group. Mann-Whitney U tests were used to compare each NAM group with the no NAM-no GPP control group.
Result(s): A total of 85 patients were included in this study (mean age = 8.7). Male patients (50.6%) and the left side (64.7%) were most affected. Of the 85 patients, 26 (30.6%) underwent NAM-GPP with adequate bone formation, 22 (25.9%) underwent NAM-GPP but required ABG, 16 (18.8%) underwent NAM without GPP, and 21 (24.7%) underwent no NAM-no GPP. Median values were significantly different in the anterior maxilla between the affected and nonaffected sides across all four groups (p = 0.001). The transverse dimension at the affected side also revealed a significant difference in both the NAM-GPP (with adequate bone formation) and the NAM-GPP (requiring ABG) groups compared to the no NAM-no GPP group (p= 0.022 and p= 0.001, respectively). There was no significant difference between the NAM-no GPP group compared to the control (p = 0.059). Distances to the molars of the affected and nonaffected sides were not statistically significant within or across any of the groups (p > 0.05).
Conclusion(s): In patients with UCLP, the maxillary primary canine transverse dimension on the affected side is significantly reduced in patients undergoing NAM and GPP compared to the control. However, the position of the maxillary first molars appear to be unaffected by NAM and GPP

Background/Purpose: Gingivoperiosteoplasty (GPP) is a procedure performed at the time of primary cleft lip or palate repair in which the alveolus is repaired without the need for bone graft. Although the success of GPP is reported up to 70%, the associated disparities with regards to access or receipt of GPP has not been studied. This study reports on patient access to GPP reconstruction. Methods/Description: The American College of Surgeons National Surgical Quality Improvement Program Pediatric (ACS NSQIP Peds) was queried from 2014 to 2019. Patients were selected using the Current Procedural Terminology (CPT) codes (Table 1). Patient race, gender, age at time of surgery, 30 day readmission, comorbidities and complications were recorded. Postoperative complications included surgical site infections (SSI), dehiscence and transfusion. Receipt of GPP was analyzed using binary logistic regression to control for variables that could potentially affect access to/ receipt of GPP. For multivariable analysis, Bonferroni correction was used.
Result(s): 23408 patients with a cleft were included in our analysis. 12590 were White, 1732 were Black/African American, 3914 were Hispanic, 2267 were Asian/other Pacific Islander, and 2905 did not have a reported Race. Amongst this cohort, 709 patients underwent GPP (2.25%). Patients who did not report/of unknown Race were less likely to undergo GPP (p = 0.001), while there was no statistically significant difference amongst access to GPP for Black/African American, Hispanic, or Asian/ other Pacific Islander patients. The average age of all patients was 2411 days. White patients had primary cleft repair at a younger age (p = 0.000) than non-White patients. There was no difference in gender or co-morbidities (cardiac risk factors and congenital/chronic lung disease, respectively) amongst all Races (p = 0.291, p = 0.276, p = 0.547). There was no statistically significant difference in unplanned 30-day readmission and 30-day postoperative complication (p = 0.326, 0.934, respectively). Patients with ASA class 3 or 4 and minor or major cardiac risk factors had a statistically significant higher chance of 30-day readmission (p = 0.000, 0.000, 0.000, 0.001, respectively).
Conclusion(s): Amongst reported Races there was no statistically significant difference with regards to access/receipt of GPP, but patients without a reported Race were less likely to undergo GPP. Undergoing GPP did not appear to increase the likelihood of 30-day readmission or postoperative complication. We did find that White patients received cleft lip/palate repair at a statistically significant younger age and Hispanic patients at a later age, which is similar to previous studies. Although there was no difference in access to GPP amongst Races, further studies to evaluate disparities in outcomes for children undergoing GPP needs to be elucidated

PURPOSE/OBJECTIVE:The purpose of this study was to measure the association between the magnitude of advancement and dental and skeletal relapse in patients with cleft lip and palate (CLP). METHODS:A single-institution retrospective cohort study of skeletally matured patients with CLP who underwent isolated Le Fort I advancement surgery between 2013 and 2019 was studied. Patients were included if they had lateral cephalograms or cone-beam computed tomography (CBCT) at preoperative (T1), immediately postoperative (T2), and 1-year follow-up (T3). Lateral cephalometric landmarks were digitized and measured. The sample was divided on the basis of the magnitude of skeletal advancement: minor (<5 mm), moderate (≥5 but <10 mm), and major (≥10 mm) advancement groups. The mean advancement and relapse were compared between groups using 1-way ANOVA. Correlation between the amount of surgical advancement and relapse was evaluated. RESULTS:Forty-nine patients with nonsyndromic CLP with hypoplastic maxilla met inclusion criteria and the sample consisted of 36 males and 13 females with the mean age of 19.5 years. In the minor, moderate, and major advancement groups, the mean advancement at point A was +4.1 ± 0.4, + 7.5 ± 1.4, and +11.3 ± 1.3 mm, respectively. At 1-year follow-up, the mean relapse at point A was -1.3 ± 1.2, -1.1 ± 1.2, and -1.7 ± 1.5 mm, respectively. There was no significant difference in the relapse amount between all surgical groups. No correlation between the magnitude of advancement and relapse was found. CONCLUSIONS:This study demonstrated no statistically significant difference in skeletal stability between a minor (<5 mm), moderate (≥5 but <10 mm), and major (≥10 mm) Le Fort I advancement groups in patients with clefts. Regardless of the degree of advancement, mild skeletal relapse was observed in all 3 groups.

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.

The Le Fort III advancement was first described in 1950 and has since become a key technique in the armamentarium of craniofacial surgeons. The application of distraction osteogenesis to the craniofacial skeleton has allowed for large movements to be performed safely in young patients. This technique is valuable for correcting exorbitism, airway obstruction owing to midface retrusion, and class III malocclusion. It can be performed with either an external distractor or internal distractors. Although serious complications have been reported, these occur rarely when performed by experienced providers.

OBJECTIVE/UNASSIGNED:Utilize 3-dimensional (3D) photography to evaluate the nasolabial changes in infants with bilateral cleft lip and palate (BCLP) who underwent nasoalveolar molding (NAM) and primary reconstructive surgery. DESIGN/UNASSIGNED:coordinates to obtain the linear and angular measurements. Nasal form changes were measured and analyzed between T1 (0.5 months old), T2 (5 months old), and T3 (6 months old). Intraclass correlation coefficient was performed for intrarater reliability. Averaged data from the 3D images was statistically analyzed from T1 to T2 and T2 to T3 with Wilcoxon tests. Unaffected infant norms from the Farkas publication were used as a control sample. RESULTS/UNASSIGNED:After NAM therapy, statistically significant changes in the position of subnasale and labius superius improved nasolabial symmetry. Both retruded after NAM were displaced downward after NAM and surgical correction with respect to soft tissue nasion. The nasal tip's projection was maintained with NAM and surgical correction. The columella lengthened from 1.4 to 4.71 mm following NAM. CONCLUSIONS/UNASSIGNED:There was a significant improvement in the nasolabial anatomy after NAM, and this was further enhanced after primary reconstructive surgery.

ABSTRACT/UNASSIGNED:Velopharyngeal insufficiency (VPI) after cleft palate repair remains an intriguing problem for the cleft surgeon. While other options for the treatment of VPI, in many ways the sphincter pharyngoplasty has become a reliable and satisfying operation. When the applied to the properly selected patient, it rearranges the palatopharyngeus muscles to provide dynamic closure of the newly created central velopharngeal port. The dynamic action is particularly satisfying to the surgeon. The surgery evolved in part because of the dedication and creativity of Dr. Ian Jackson who's description is closest to the design used today. In his memory we felt it fitting to review Dr. Jackson's involvement with the surgery over the decades as well as include our own thoughts on the advantages of the procedure.

BACKGROUND:The authors present outcomes analysis of the nasoalveolar molding treatment protocol in patients with a cleft followed from birth to facial maturity. METHODS:A single-institution retrospective review was conducted of cleft patients who underwent nasoalveolar molding between 1990 and 2000. Collected data included surgical and orthodontic outcomes and incidence of gingivoperiosteoplasty, alveolar bone grafting, surgery for velopharyngeal insufficiency, palatal fistula repair, orthognathic surgery, nose and/or lip revision, and facial growth. RESULTS:One hundred seven patients met inclusion criteria (69 with unilateral and 38 with bilateral cleft lip and palate). Eighty-five percent (91 of 107) underwent gingivoperiosteoplasty (unilateral: 78 percent, 54 of 69; bilateral: 97 percent, 37 of 38). Of those patients, 57 percent (52 of 91) did not require alveolar bone grafting (unilateral: 59 percent, 32 of 54; bilateral: 54 percent, 20 of 37). Twelve percent (13 of 107) of all study patients underwent revision surgery to the lip and/or nose before facial maturity (unilateral: 9 percent, six of 69; bilateral: 18 percent, seven of 38). Nineteen percent (20 of 107) did not require a revision surgery, alveolar bone grafting, or orthognathic surgery (unilateral: 20 percent, 14 of 69; bilateral: 16 percent, six of 38). Cephalometric analysis was performed on all patients with unilateral cleft lip and palate. No significant statistical difference was found in maxillary position or facial proportion. Average age at last follow-up was 20 years (range, 15 years 4 months to 26 years 10 months). CONCLUSIONS:Nasoalveolar molding demonstrates a low rate of soft-tissue revision and alveolar bone grafting, and a low number of total operations per patient from birth to facial maturity. Facial growth analysis at facial maturity in patients who underwent gingivoperiosteoplasty and nasoalveolar molding suggests that this proposal may not hinder midface growth. CLINICAL QUESTION/LEVEL OF EVIDENCE/METHODS:Therapeutic, IV.

OBJECTIVE/UNASSIGNED:This study evaluates skeletal and dental outcomes of LeFort I advancement surgery in patients with cleft lip and palate (CLP) with varying degrees of maxillary skeletal hypoplasia. DESIGN/UNASSIGNED:Retrospective study. METHOD/UNASSIGNED:: ≤-10 mm. PARTICIPANTS/UNASSIGNED:Fifty-one patients with nonsyndromic CLP with hypoplastic maxilla who met inclusion criteria. INTERVENTION/UNASSIGNED:LeFort I advancement. MAIN OUTCOME MEASURE/UNASSIGNED:Skeletal and dental stability post-LeFort I surgery at a 1-year follow-up. RESULTS/UNASSIGNED:At T2, LeFort I surgery produced an average correction of maxillary hypoplasia by 6.4 ± 0.6, 8.1 ± 0.4, and 10.7 ± 0.8 mm in the mild, moderate, and severe groups, respectively. There was a mean relapse of 1 to 1.5 mm observed in all groups. At T3, no statistically significant differences were observed between the surgical groups and controls at angle Sella, Nasion, A point (SNA), A point, Nasion, B point (ANB), and overjet outcome measures. CONCLUSIONS/UNASSIGNED:LeFort I advancement produces a stable correction in mild, moderate, and severe skeletal maxillary hypoplasia. Overcorrection is recommended in all patients with CLP to compensate for the expected postsurgical skeletal relapse.

The aim of this report is to describe the combination of Crouzon syndrome and acanthosis nigricans with fibrous dysplasia of the maxilla. The diagnosis of fibrous dysplasia was confirmed clinically and pathologically during Le Fort III osteotomy and midface advancement with distraction osteogenesis. Crouzon syndrome with acanthosis nigricans is a known syndrome with an incidence of 1:1,000,000. This is the first report in the literature of Crouzon syndrome and acanthosis nigricans combined with fibrous dysplasia. As all 3 pathologies are related to fibroblasts, they may be different manifestations of malfunction of a single molecular pathway. The detection of fibrous dysplasia in a patient with Crouzon syndrome and acanthosis nigricans is important because it may complicate midface osteotomies and fixation of the hardware on the bones during craniofacial surgery.