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Abstract Background An easy-to-use tool to objectively measure intraoral anatomy with meaningful clinical correlations may improve care for patients with Beckwith-Wiedemann syndrome (BWS), who commonly have symptomatic macroglossia. Methods Children aged 2–17 years with BWS were enrolled between 12/2021 and 01/2024. Digital intraoral photographs with a laser ruler were taken, and morphometric measurements were made using ImageJ software. Relationships between morphometrics and outcomes including BWS clinical score, percentage mosaicism, and incidence of tongue reduction surgery were examined using t-tests and multivariate linear models. Results Pharyngeal morphometric measurements were obtained in 49 patients with BWS. Mouth area, width, and height differed significantly across BWS molecular subtypes. Right-to-left tongue width and mouth width were larger in those with loss of methylation at imprinting control region 2 (IC2 LOM) than other BWS variants. Patients with paternal uniparental isodisomy of chromosome 11p15 (pUPD11) had narrower mouths than others. Those with tongue reduction surgery had more tongue ridging than those without surgery. There were correlations between mouth area and BWS clinical score, tongue width and BWS clinical score, and tongue length and percentage mosaicism. Conclusion Intraoral morphometric measurements are associated with phenotypic burden in BWS. Tongue morphology varies across the BWS spectrum, with IC2 LOM having wider tongues and mouths, and pUPD11 having narrower mouths. Tongue ridging is more common in those selected for surgery. Intraoral morphometric measurements may be safely obtained at low costs across centers caring for children with BWS or others at risk of upper airway obstruction.

Summary:. The forehead flap is a timeless and robust reconstructive option for complex facial defects. In accordance with aesthetic subunit principles, it has traditionally been used to resurface defects affecting a single cervicofacial region, most commonly the nose or periorbital unit. In this article, we present three cases of congenital nevi treated with expanded forehead flap reconstruction of the nasal, periorbital, and cheek units in early childhood. This series demonstrates an approach that, while violating facial units, limits total scar burden and optimizes aesthetic and functional results. With precise staging and execution, this reconstructive technique allows for a single flap to resurface multi-unit defects in the pediatric population with excellent long-term results.

Summary:. Apert syndrome classically presents with craniosynostosis at birth, most commonly of the bilateral coronal sutures, which may lead to cephalocranial disproportion and elevated intracranial pressure, the latter of which is associated with optic atrophy, visual loss, and developmental delays. A small number of patients with syndromic craniosynostosis demonstrate open sutures at birth; however, all previously reported patients of this subtype have been reported to develop premature suture fusion in the early postnatal period and/or require cranial vault expansion for increased intracranial pressure. Here, we report on a patient with Apert syndrome who did not have closed sutures at birth, and only began to demonstrate unilateral coronal suture fusion between ages 4 and 6 years, yet neither developed phenotypic signs of craniosynostosis nor evidence of intracranial hypertension. Moreover, despite demonstrating patency of the spheno-occipital synchondrosis, the patient developed progressive midface hypoplasia, requiring a subcranial Le Fort 3 advancement with external distraction at age 9. Now at skeletal maturity, this patient has a normal cranial shape and will likely never require cranial vault surgery for functional or aesthetic concerns. We are not aware of any prior reports of a patient with Apert syndrome who did not require intracranial surgery over long-term follow-up.

Summary: WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of histones. We collected data from 11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11), intellectual disability (n = 9), epilepsy (n = 7), and autism spectrum disorder (n = 4). Additional phenotypic features included abnormal growth parameters (n = 7), heart anomalies (n = 2), and hearing loss (n = 2). Three-dimensional protein structures indicate that all the residues affected by these variants are located at the surface of one side of the WDR5 protein. It is predicted that five out of the six amino acid substitutions disrupt interactions of WDR5 with RbBP5 and/or KMT2A/C, as part of the COMPASS (complex proteins associated with Set1) family complexes. Our experimental approaches in Drosophila melanogaster and human cell lines show normal protein expression, localization, and protein-protein interactions for all tested variants. These results, together with the clustering of variants in a specific region of WDR5 and the absence of truncating variants so far, suggest that dominant-negative or gain-of-function mechanisms might be at play. All in all, we define a neurodevelopmental disorder associated with missense variants in WDR5 and a broad range of features. This finding highlights the important role of genes encoding COMPASS family proteins in neurodevelopmental disorders.

Summary:. Traumatic dog bites of the face and head are common among the pediatric population, although injuries resulting in total or subtotal scalp avulsions are rare and life-threatening. Standard treatment in these cases includes attempts at replantation or free tissue transfer; however, these procedures may not always be possible. An alternative treatment option involves the use of dermal substitutes, such as Integra (Integra LifeScience Corporation), with subsequent skin grafting. More recently, an alternative skin substitute called NovoSorb Biodegradable Temporizing Matrix (BTM) (PolyNovo North America LLC) has displayed favorable reconstructive outcomes in recent burn literature. NovoSorb BTM is a novel, fully synthetic bilayer scaffold made of biodegradable polyurethane matrix covered with a sealing membrane. In this report, the authors describe a 3-year-old boy who presented emergently with a severe dog bite avulsion to the subpericranial level of approximately 80% of his scalp, which was not replantable. The surgical plan involved a staged reconstruction using Integra and later skin grafting. Purulent infection ensued and required removal of Integra less than 2 weeks from application. Upon clearing of the infection, the wound was successfully closed with BTM and subsequent skin grafting. With proper wound management and over 6 months of follow-up, the patient experienced excellent healing of the graft with stable calvarial coverage and an acceptable aesthetic outcome. He will undergo tissue expansion of the remaining hair-bearing scalp in the future.

Background:. Computer-aided surgical planning has become popular for planning orthognathic surgery (OS) as it saves surgeons’ time and effort. A recent advancement has been the utilization of patient-specific cutting guides and osteosynthesis. The purpose of this study is to report the postoperative bimaxillary position utilizing custom plates for both jaws versus custom plates used in the maxilla only in 23 consecutive patients. Methods:. All patients who underwent bimaxillary OS in 2017–2018 with preoperative computed tomography (CT) scan, postoperative day 1 CT scan, and at least 6 months follow-up were included in the study. Group 1 utilized maxillary preprinted plates (maxilla only). Group 2 utilized bimaxillary preprinted plates (maxillomandibular). Eight cephalometric landmarks to evaluate the movements were chosen. The ranges of the angle between the sella/nasion plane and the nasion/A plane (SNA), the angle between the sella/nasion plane and the nasion/B plane (SNB), and the angle created by the A point‚ nasion‚ and B point‚ which measures the relative position of maxilla to mandible, were analyzed to assess the angular change. Mean-squared displacement and the SD of the distances were used to assess movement in space. Results:. Twenty-three patients (nine in group 1 and 14 in group 2) met the inclusion criteria. Results showed interarch relationships using custom plates for both jaws with ANB 0.4 compared to ANB 1.4 for maxillary custom plates only. Mandibular landmarks showed greater variation, and the t test study revealed the right mandibular first molar landmark showing the greatest variation (P = 0.03). Conclusions:. Custom osteosynthesis plates for OS show good accuracy for the maxilla and higher variation in the mandible. Further studies will determine the margin of error that cannot be corrected with postoperative orthodontics.

Background:. Plastic and Reconstructive Surgery (PRS) incorporated the level of evidence (LOE) pyramid in 2011 to highlight evidence-based medicine in plastic surgery. This study aimed to assess the relationship between the profile of senior authors publishing in PRS and the LOE of publications. Methods:. All accepted publications by American senior authors to PRS between January 2018 and March 2020 were classified by LOE. Demographic, educational, and career data on all senior authors were collected using publicly available online resources. Results:. A total of 1030 articles were screened‚ of which 266 (25.8%) were eligible for LOE classification with the following distribution: I, 0.8%; II, 14.3%; III, 45.1%; IV, 33.1%; and V, 7.1%. Senior author demographic factors, including gender and race/ethnicity, did not significantly impact LOE (P > 0.05 for all). An advanced degree was associated with more publications per year, and only a PhD (P = 0.022) and board certification (P = 0.012) were associated with a higher LOE of publications (P = 0.022). Physicians working in an academic setting were significantly more likely to publish level III evidence than their private/community-based counterparts (P = 0.006). Breast papers constituted the highest proportion of level III evidence (41.4%; P < 0.001). Conclusions:. Most publications in PRS contain level III-IV evidence. Senior author gender, race, and ethnicity did not impact LOE of publications. Plastic surgery board certification, possession of a PhD, and academic practice setting were associated with higher LOE of publications.

Background:. Ankyloglossia, or tongue-tie, is characterized by a short or thickened lingual frenulum; this can be associated with impaired breastfeeding, speech, and dentofacial growth. The indications for performing frenotomy, frenuloplasty, or other operative interventions are unclear. Methods:. A meta-analysis was performed to identify the extent of the benefit from frenotomy in breastfeeding measures, degree of tongue-tie, and maternal pain during feeding in randomized controlled trials. A structured literature review analyzed the optimal type and timing of repair. An algorithm was developed to incorporate this evidence into a management pathway. Results:. Among 424 studies reviewed, 5 randomized controlled trials met inclusion criteria for meta-analysis. Frenotomy significantly improved the degree of tongue-tie, with a 4.5-point decrease in Hazelbaker Assessment Tool for Lingual Frenulum Function score compared with a decrease of 0 in those who did not undergo frenotomy (P < 0.00001). This was associated with improved self-reported breastfeeding (relative risk [RR] = 3.48, P < 0.00001) and decreased pain (Short-Form McGill Pain Questionnaire, P < 0.00001); however, Breastfeeding Self-Efficacy–Short Form and Latch, Audible Swallowing, Type of Nipple, Comfort, Hold scores did not significantly improve. Multiple studies demonstrated significant improvements following frenuloplasty when compared with frenotomy but demonstrated mixed results as to the effect of timing of tongue-tie division. Conclusions:. Frenotomy is associated with breastfeeding improvements that vary individually but trend toward significance collectively during a critical time in infant development. Among patients with a severe Hazelbaker Assessment Tool for Lingual Frenulum Function score or difficulty breastfeeding, we conclude that simple frenotomy without anesthetic is generally indicated in infancy and frenuloplasty under general anesthesia for older children.

Background:. This study investigates laypersons’ perceptions of congenital ear deformities and preferences for treatment, particularly with ear molding therapy—an effective, noninvasive, yet time-sensitive treatment. Methods:. Laypersons were recruited via crowdsourcing to view photographs of normal ears or one of the following ear deformities, pre- and post-molding: constricted, cryptotia, cupped/lopped, helical rim deformity, prominent, and Stahl. Participants answered questions regarding perceptions and treatment preferences for the ear. Statistical analyses included multiple linear and logistic regressions and Wilcoxon signed-rank tests. Results:. A total of 983 individuals participated in the study. All deformities were perceived as significantly abnormal, likely to impair hearing, and associated with lower psychosocial quality of life (all P < 0.001). For all deformities, participants were likely to choose ear molding over surgery despite the logistical and financial implications of ear molding (all P < 0.02). Participants were significantly more satisfied with the outcome of ear molding in all deformities compared with control, except constricted ears (all P < 0.002, except Pconstricted = 0.073). Concern for hearing impairment due to ear deformity was associated with increased likelihoods of seeing a physician (P < 0.001) and choosing ear molding despite treatment logistics and costs (all P < 0.001). Conclusions:. Laypersons perceived all ear deformities as abnormal and associated with low psychosocial quality of life. Despite logistical and financial implications, laypersons generally desired molding therapy for ear deformities; treatment outcomes were satisfactory for all deformities except constricted ears. Timely diagnosis of this condition is crucial to reaping the benefits of ear molding therapy.