Faculty Bibliography

Presurgical lip, alveolus, and nose approximation (PLANA) is a form of presurgical infant orthopedics designed to reduce cleft severity without an intraoral molding plate. This study compared nasolabial outcomes and the burden of care in patients with a bilateral cleft treated with PLANA in relation to nasoalveolar molding (NAM). A single-institution retrospective review was conducted of all patients with bilateral cleft lip treated with NAM (2016-2019) or PLANA (2023-2025). Clinical data were collected, including treatment timing, number of visits, and number of unscheduled appointments. Anthropometric measurements for nasolabial angle (NLA), columella length, pronasale to subnasale distance, and alar base width at initiation and completion of therapy were collected. Paired-samples t tests were used for intragroup changes, and independent-samples t tests were used for intergroup comparisons. Across 24 patients (11 PLANA and 13 NAM), the PLANA cohort required fewer visits (6 versus 17, P<0.05) and unscheduled appointments (0 versus 1, P=0.01). Treatment initiation occurred earlier in the PLANA group (11 versus 35 d, P<0.05), as did the insertion of the nasal appliance or stent (19 versus 72 d, P<0.05). Primary surgery was performed earlier in the PLANA group (107 versus 150 d, P<0.05). Both groups exhibited improvements in NLA, columella length, and the pronasale-to-subnasale difference, with no intergroup differences. The PLANA group exhibited greater improvement in alar base width (3.3 versus 0.4 mm, P=0.01). Patients treated with PLANA exhibit favorable nasolabial outcomes, as well as reduced treatment durations, scheduled visits, unscheduled appointments, and overall burden of care.

Presurgical lip, alveolus, and nose approximation (PLANA) is a novel presurgical infant orthopedics approach that has demonstrated early favorable nasolabial outcomes. However, its associated costs have not been evaluated. This study compared treatment costs between PLANA and nasoalveolar molding (NAM). A single-institution retrospective review of patients treated with NAM (2018-2019) and PLANA (2024-2025) was conducted. Patients were grouped by unilateral or bilateral involvement, and the average number of visits per cohort was calculated. Publicly available standardized payment values from the Centers for Medicare & Medicaid Services were used to approximate the costs of physician services and facility resources. Total costs were calculated from the sum of the costs for physician services, facilities, and medical supplies. Seventy-four patients were included, including 40 treated with NAM (unilateral 30 and bilateral 10), and 34 treated with PLANA (unilateral 24 and bilateral 10). For patients with a unilateral cleft, the average cost of NAM was $4362.37 (services: $1893.67, facilities: $2160.50, and supplies: $308.20), whereas the average cost of PLANA was $2791.94 (services: $752.61, facilities: $830.96, and supplies: $1208.37). Across patients with a bilateral cleft, the average cost of NAM was $4980.01 (services: $2178.93, facilities: $2492.88, and supplies: $308.20), whereas the average cost of PLANA was $3100.76 (services: $895.24, facilities: $997.15, and supplies: $1208.37). The cost of NAM is largely driven by physician services and facility expenses, whereas the cost of PLANA is primarily driven by medical supplies, offset by a reduced number of visits. These findings may inform cleft centers in their selection of presurgical orthopedic interventions and guide the development of standardized payment criteria.

ObjectiveTo evaluate caregiver experiences with presurgical lip, alveolus, and nose approximation (PLANA) therapy, including adherence, burden, support, and perceived effectiveness in infants with cleft lip and/or palate.DesignCross-sectional survey study using an anonymous, voluntary questionnaire administered via Research Electronic Data Capture. Descriptive statistics were used to summarize responses, and qualitative responses were analyzed for common themes.SettingSingle tertiary care academic institution.Patients, ParticipantsCaregivers of infants with cleft lip and/or palate undergoing PLANA therapy were identified through institutional records. Of 48 eligible caregivers, 23 unique responses were included.InterventionsPLANA therapy utilizing the NoseAlign device with concurrent lip taping, applied at home with periodic clinical follow-up.Main Outcome Measure(s)Caregiver-reported adherence, training satisfaction, infant tolerance, caregiver burden, perceived support, and perceived effectiveness.ResultsCaregivers reported high satisfaction with training (73.9% very satisfied) and high adherence, with 87.0% reporting consistent use and 100% reporting daily wear. Most reported no feeding interference (86.4%) and good infant tolerance (73.9% comfortable or very comfortable). Caregiver burden was low, with 60.9% reporting minimal impact on daily routines and 78.3% reporting confidence in application. Perceived support from the medical team was uniformly high (100%). Overall, 90.9% were satisfied with outcomes, and 95.7% would recommend PLANA therapy.ConclusionsPLANA therapy demonstrates high caregiver satisfaction, strong adherence, and favorable perceived outcomes. Its simplified design may reduce caregiver burden while maintaining effectiveness. Further studies are needed to evaluate long-term outcomes and cost-effectiveness.

INTRODUCTION/BACKGROUND:Nasoalveolar molding (NAM) is a presurgical technique used to improve nasolabial cleft severity prior to repair. This study ascertains the rates of revision surgery in a large cohort of patients with a cleft who underwent NAM and were followed to facial maturity. METHODS:A single-institution retrospective review of all patients with a cleft who underwent NAM from 1995 to 2005 was performed. Operative reports were queried to record intervnetions to the lip and nose performed through facial maturity. Patients with incomplete medical records prior to reaching skeletal maturity were excluded. Pearson correlation coefficient and two-paired student t-tests were employed for data analysis. RESULTS:A total of 81 patients were studied, 46 male and 35 female, with 52(64%) unilateral and 29(36%) bilateral clefts. Average age at last follow-up was 18.8 years. Revision to the lip was carried out in 36(44%) of patients, and only 3(3.7%) prior to reaching facial maturity. Re-repair was performed in 10(12%) patients. No significant difference of lip revisions rates were seen among patients with a bilateral and unilateral cleft (48% v. 37.9%, p=0.38).Immature cleft rhinoplasty was performed in 3(4%) patients, and more commonly among patients with a unilateral (23%) than bilateral cleft (10%), p=0.18. Mature rhinoplasty was performed in 46(57%) patients, similarly between unilateral (58%) and bilateral clefts (55%). Nasal revision following mature rhinoplasty was performed in 8(10%) patients. CONCLUSIONS:Nasoalveolar molding is an effective adjunct to surgical management in reducing the burden of operative revisions as patients reach facial maturity, namely for bilateral clefts.

BACKGROUND:Whole eye transplantation (WET) has long been looked to as a potential solution for the aesthetic and functional deficits caused by severe ocular pathology and trauma. Here, we describe the first successful combined face and whole eye transplantation (FT/WET), highlighting the logistical, ethical, and technical considerations that enabled this milestone. METHODS:A 46-year-old male with severe facial and ocular deficits underwent multidisciplinary evaluation and was deemed a candidate for FT/WET. Subsequently, a surgical algorithm was developed through rigorous preoperative planning and team based surgical simulations. This process focused on techniques that would allow for efficient graft procurement and inset, while simultaneously limiting trauma to the globe and its adnexa. RESULTS:Longitudinal monitoring demonstrated maintained graft viability throughout the postoperative period. Fluorescein angiography and ICG angiography confirmed robust retinal and choroidal perfusion. Diffusion-weighted MRI revealed structural preservation of the optic tracts, despite inner retinal atrophy. The patient has also experienced significant improvement in facial aesthetics and functionality with no episodes of graft rejection to date. CONCLUSIONS:This case demonstrates the feasibility of addressing deficits once deemed irreparable through advanced surgical techniques, preoperative planning, and multidisciplinary collaboration. Although functional vision recovery has not been observed, this innovation expands the reconstructive options available for patients with severe facial and ocular deficits, paving the way for future advancements in vascularized composite allotransplantation.

BACKGROUND:This study evaluates the Presurgical Lip, Alveolus, and Nose Approximation (PLANA) technique as a novel alternative to NasoAlveolar molding (NAM). The study hypothesizes that PLANA can achieve comparable Nasolabial outcomes to NAM while addressing its limitations, particularly by reducing the burden of care. METHODS:A retrospective review was conducted on 50 patients with non-syndromic unilateral or bilateral cleft lip and palate (CLP) treated with either NAM (n=28, including 2 treatment discontinuations) or PLANA (n=22). The overall physical burden of care was assessed in the full cohort. A subset of 25 patients with complete unilateral CLP (PLANA n=12; NAM n=13) was further analyzed to assess changes in nasolabial anthropometric ratios between cleft and non-cleft side using standardized 2D photographs taken pre-treatment (T1) and post-treatment (T2). RESULTS:The physical burden of care was significantly lower in the PLANA group, with 61.2 % fewer total office visits (5.2 vs. 13.4; p<0.001). The PLANA group also showed 72.19 % reduction in transient reversible side effects, such as oral, nasal, and cheek irritations (18.18% [n=4] vs. 65.38% [n=17]; p<0.001). PLANA achieved a significantly greater improvement in the columellar length ratio (0.53 vs. 0.37; p = 0.026), while NAM demonstrated a greater increase in the nostril height ratio (0.29 vs. 0.39; p = 0.04). No significant differences were observed in nostril width and alar base width ratios, or columellar deviation angle between the groups. CONCLUSION/CONCLUSIONS:These findings suggest that PLANA significantly reduces the burden of care for patients with cleft lip and palate and may offer comparable nasolabial outcomes to NAM.

Patients with unilateral cleft lip and palate (UCLP) often exhibit asymmetric paranasal flatness of soft tissues. Despite clinical recognition of this asymmetry, skeletal paranasal asymmetry remains poorly quantified. Measuring skeletal landmark asymmetries can aid in planning surgical maxillary yaw corrections that simultaneously enhance paranasal symmetry and maxillary dental midline position. This study aims to quantify skeletal paranasal asymmetry in patients with UCLP. Skeletally mature patients with complete UCLP who were orthodontically prepared for orthognathic surgery between 2014 and 2023 were included in this study. Presurgical CBCTs were analyzed using Dolphin 3D. Anterior-posterior discrepancies between affected and unaffected sides were measured at the most lateral point of piriform aperture (PA) and 15 mm lateral to PA (15PA). A one-sample t test was conducted. Analysis of 30 patients (mean age 18-8 y, 17 male, 13 female, 20 left-sided, 10 right-sided) was completed. On the affected side, PA and 15PA were positioned 3.8 mm (P<0.05) and 2.4 mm (P<0.05) more posteriorly, respectively. These results suggest that skeletal paranasal asymmetry should be assessed during the pretreatment stage, as presurgical orthodontics should maintain a maxillary midline deviation toward the affected side when yaw correction is indicated. This approach facilitates simultaneous correction of piriform projection and midline alignment during surgery and may reduce the need for secondary procedures, such as malar implants or fat injections, which add cost and morbidity. This study confirms skeletal paranasal asymmetry in patients with UCLP and establishes a standardized method for measuring these deficiencies using CBCT-based skeletal landmarks.

Presurgical lip, alveolus, and nose approximation (PLANA) is a novel form of presurgical infant orthopedics (PSIO) designed without an intraoral molding plate. While early studies on PLANA have demonstrated improvements in nasolabial morphology, its impact on infant feeding and weight gain has not been assessed. A single-institution, retrospective review of all patients with cleft lip and palate (CL±P) treated with PLANA over a 1-year period was therefore performed. Weight values at baseline and at surgery were compared with World Health Organization (WHO) Child Growth Standards, and weight-for-age z-scores (WAZ) as well as changes in weight-for-age z-scores (WAZ) were obtained. A cohort of patients who underwent PSIO with NasoAlveolar Molding (NAM) was evaluated as a reference group. The PLANA (n=19) and NAM (n=25) groups were comparable in age (15.63 versus 21.16 d, P=0.2), weight (3.38 versus 3.50 kg, P=0.2), and WAZ (-0.80 versus -0.94, P=0.8) at baseline, and in age (103.11 versus 113.04 d, P=0.06), weight (5.82 versus 5.68 kg, P=0.3), and WAZ (-0.92 versus -1.47, P=0.2) at surgery. Both groups had similar weight gain (2.44 versus 2.18 kg, P=0.1) and WAZ (-0.12 versus -0.53, P=0.2). The PLANA group exhibited statistically significant greater daily weight gain (0.028 versus 0.024 kg/d, P=0.04). None of the patients experienced surgical delays due to insufficient weight gain. PLANA did not interfere with presurgical weight gain in infants with CL±P.

PURPOSE/OBJECTIVE:XPO1 functions in key cellular processes, including nucleo-cytoplasmic export and mitosis. The gene is deleted in a subset of patients with the 2p15p16.1 microdeletion syndrome, however no monogenic XPO1-related disorder has been described to date. MATERIALS AND METHODS/METHODS:We collected clinical data of individuals with de novo XPO1 variants through online matchmaking. We employed Drosophila to study XPO1 function in development and habituation learning. RESULTS:A total of 22 individuals met the criteria to be included in the main study cohort. Of these, half have putative loss-of-function variants and half have coding variants (10 missense and 1 in-frame deletion variant). We find an overlapping phenotype, consistent with a monogenic neurodevelopmental disorder (NDD). We demonstrate XPO1 functions in development by ubiquitous and neuron-specific knockdown in Drosophila. GABAergic neuron specific knockdown flies demonstrated impaired habituation. CONCLUSION/CONCLUSIONS:Our results establish XPO1 as a novel dominant monogenic NDD gene and demonstrate a central role for XPO1 in development.