Cleft Palate-Craniofacial Journal最新文献

Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.

Design: We generated whole-genome sequencing data for the proband, affected father, and unaffected paternal grandmother followed by Sanger sequencing on 23 family members for the top candidate gene mutations. We performed parent and sibling-based transmission disequilibrium tests (TDTs) and burden analysis via a penalized linear mixed model, for segregation and mutation burden, respectively. Next, via bioinformatic tools we predicted protein function, mutation pathogenicity, and pathway enrichment to investigate the biological relevance of mutations identified.

Results: Rare missense mutations in SIX1, KDR/VEGFR2, and PDGFRA showed the best segregation with the OAVS phenotypes in this family. When considering any of the 3 OAVS phenotypes as an outcome, SIX1 had the strongest associations in parent-TDTs and sib-TDTs (P = 0.025, P = 0.052) (unadjusted P-values). Burden analysis identified SIX1 (RC = 0.87) and PDGFRA (RC = 0.98) strongly associated with OAVS severity. Using phenotype-specific outcomes, sib-TDTs identified SIX1 with uni- or bilateral ptosis (P = 0.049) and ear tags (P = 0.01), and PDGFRA and KDR/VEGFR2 with ear tags (both P < 0.01).

Conclusion: SIX1, PDGFRA, and KDR/VEGFR2 are strongly associated to OAVS phenotypes. SIX1 has been previously associated with OAVS ear malformations and is co-expressed with EYA1 during ear development. Efforts to strengthen the genotype-phenotype co-relation underlying the OAVS are key to discover etiology, family counseling, and prevention.

Objective: To evaluate the feasibility of using the National Patient-Centered Clinical Research Network (PCORnet^®) as a source of electronic health record (EHR) data for cleft outcomes research. Design: Exploratory retrospective analysis of multi-year, administrative and clinical, structured data stored in PCORnet. Setting: Academic institution with an ACPA-approved cleft and craniofacial team. Patients/Participants: Encounter-level data pertaining to patients with orofacial clefts treated at this center between 2010 and 2018. Outcome Measures: (1) Ability of PCORnet to report metrics such as the following: number of new and returning patients per year; demographics; phenotype; procedures; readmission or reoperation within 30 days; etc. (2) Accuracy of selected metrics, compared with manual chart review. Results: PCORnet is useful for the calculation of simple process metrics such as patient demographics, phenotype mix, case mix, and number of readmissions. However, as it lacks access to clinical notes, PCORnet alone cannot provide more detailed information. Phenotypic classification (based on ICD codes) and procedural description (based on CPT^®) are subject to inaccuracy. A 1-2 year delay in data upload to PCORnet may be rate-limiting for certain applications. Multi-institutional queries were feasible. Conclusions: PCORnet does not include all necessary data elements from the EHR. While very convenient for the tabulation of simple process metrics, especially from multiple institutions, supplemental data collection will be required for meaningful cleft outcomes research. Cleft teams whose institutions participate in PCORnet might choose to store the supplemental data as "sidecars" alongside the standard PCORnet database tables, which would allow for future PCORnet queries to be more informative and impactful.

Objective: The purpose of this study was to quantify analgesic use following alveolar cleft bone grafting (ABG) utilizing a posterior iliac crest (PIC) donor site.

Design: This is a prospective cohort study of consecutive patients that underwent ABG with PIC in a 10 month period from November 2022 to September 2023.

Setting: Tertiary care free-standing pediatric hospital.

Participants: Patients with cleft lip and alveolus with or without cleft of the secondary palate undergoing alveolar bone graft with cancellous marrow from the PIC.

Interventions: All patients underwent ABG and recorded analgesic use afterwards.

Main outcome measure: The main outcome variable was total pain medication utilization during the first 10 postoperative days (PODs).

Results: 22 subjects (72.7% male, 54.5% Caucasian 72.7% unilateral and 27.3% bilateral clefts) recorded pain medication use. Total duration of analgesic use (any type) was 3.86 ± 1.7 postoperative days. 10 subjects (45.5%) did not use opioid medication postoperatively. The remaining 12 subjects (54.5%) used a median of 12 (0, 19) morphine milli-equivalents (MME), equal to 1.6 (0, 2.53) doses of 5 mg oxycodone. An average of 9.9 ± 5.6 doses of acetaminophen and 9.1 ± 4.7 doses of a non-steroidal anti-inflammatory drug (NSAID) were administered. No subject used opioids after POD3. Patients with unilateral clefts used more acetaminophen (p = 0.02); otherwise, there were no significant differences in outcomes based on any predictor variable (p > 0.05).

Conclusions: Analgesic requirements after ABG with PIC were minimal, with nearly half of patients taking no postoperative opioids. As such, judicious opioid prescribing is prudent.  .

Objective: Craniofacial conditions (CFCs) can be associated with adverse effects on quality of life (QoL). However, few studies have examined perceived benefits related to CFCs. This study described perceived benefits in an international sample of children and adolescents with CFCs and their parents.

Design: Semistructured qualitative interviews were completed in English or Spanish as part of a larger study. Deductive content analysis described and quantified perceived benefits associated with CFCs.

Setting: Interviews were during standard visits at Rady Children's Hospital-San Diego in the USA and the Hospital Infantil de las Californias in Tijuana, Baja California, Mexico.

Participants: Patients were ages 7 to 20 years (n = 32) with CFCs (cleft lip and/or palate, craniosynostosis, microtia, hemifacial microsomia, dermatologic conditions/neurovascular malformations, and trauma-acquired CFC), and parents (n = 71) had children ages 5 months to 23 years with CFCs. Of the total sample, there were 14 patient-parent dyads.

Results: A total of 230 benefits were identified. Of the patients (47%) and parents (73%) who identified at least 1 benefit, themes included personal growth (40%), understanding or helping others facing challenges (25%), social relationships (23%), spiritual or religious beliefs (4%), philanthropy (4%), material or external gains (3%), and personal health (1%).

Conclusions: Patients with CFCs and their parents report multiple positive effects of CFCs on their QoL. These findings indicate that benefit finding is a common experience in this population and may be leveraged by clinicians to help promote positive adjustment to living with a CFC.

Objective: Buccal myomucosal flap procedures have become a critical tool in the armamentarium of the cleft surgeon. Mastering this technique is complex and providing sufficient training opportunities presents significant challenges. Our study details the design, development, and evaluation of a low-cost, high-fidelity buccal myomucosal flap surgical simulator. Our goal is to establish a reliable teaching tool for early learners, validated through craniofacial surgeon assessment.

Design: The simulator comprises of an anatomical model and a stand created using computer-aided design software. Hard tissues were 3D-printed, while soft tissues were cast in silicone. The model underwent review by craniofacial surgeons utilizing a 1 to 5 Likert scale across six evaluation domains.

Setting: In-person simulated dissection session.

Patients/participants: Sixteen craniofacial surgery providers from various subspecialties.

Interventions: None.

Main outcome measure: Anonymized survey responses.

Results: The simulator received fair to high scores across all evaluation domains, notably 4.31 as a training tool, 3.77 as a competency evaluation tool, 3.92 as a rehearsal tool, and 3.93 in relevance to practice.

Conclusions: The validated buccal myomucosal flap simulator theoretically enables the acquisition of surgical skills in a zero-risk simulated environment. Plans involve integration into a structured curriculum with diverse participants. Continued iteration and adoption hold the promise of significantly enhancing access to training for competency of cleft and craniofacial procedures.

Objective: To determine whether palatoplasty technique affects the resolution of eustachian tube dysfunction and postoperative speech outcomes in children with cleft palate (CP).

Design: Retrospective cohort.

Setting: Multidisciplinary cleft and craniofacial clinic at a tertiary care center.

Patients: Seventy-three patients with nonsyndromic CP who underwent palatoplasty between 2005 and 2019. Inclusion criteria included soft palate repair with Furlow technique or intravelar veloplasty (IVV) and Veau classifications I-III.

Interventions: Either Furlow or IVV repair was performed based on the surgeon's clinical judgment. All patients had bilateral ear tubes placed prior to or at the time of palate repair, with postpalatoplasty ear tubes placed at the ENT surgeon's discretion. Patients received routine follow-up care for over 5 years. Data were analyzed with Wilcoxon tests, χ² tests, and negative binomial regression.

Main outcome measures: Number of postpalatoplasty ear tubes placed, rates of velopharyngeal insufficiency, and speech surgery after palatoplasty in each group.

Results: Furlow repair patients required a similar number of postpalatoplasty ear tubes (P = .321) and underwent additional sets at similar rates compared to those who underwent IVV repair. Negative binomial regression found no covariates (age, race, Veau, repair type, speech surgery, fistula repair) that predicted additional ear tube requirements.

Conclusion: Furlow repair patients required postpalatoplasty ear tubes at a similar rate compared to IVV repair patients. While the palatoplasty techniques differ, patients may still need the same amount of time for resolution of their eustachian tube dysfunction.

Objective: This study compares mandibular distraction osteogenesis (MDO) and tracheostomy in managing severe airway obstruction in patients with the Pierre Robin sequence (PRS).

Design: A systematic review and meta-analysis following PRISMA guidelines was performed. Literature searches were conducted across PubMed, ScienceDirect, Cochrane Library, Scopus, E.B.S.C.O., and Web of Science, including grey literature, covering studies until May 30, 2024. Study quality was assessed using the Newcastle-Ottawa Scale.

Patients: patients with Pierre Robin Sequence.

Interventions: Mandibular distraction osteogenesis (MDO) and tracheostomy.

Main outcome measures: Primary outcomes included airway management (tracheostomy avoidance for MDO, decannulation for tracheostomy) and feeding outcomes (G-tube placement). Secondary outcomes were hospital length of stay and associated costs.

Results: Thirteen studies were included. MDO and the MDO-first approach demonstrated significantly better airway outcomes (OR = 10.72, 95% CI = 1.97-58.44, p = 0.006; OR = 4.51, 95% CI = 2.61-7.79, p < 0.00001). MDO also reduced the need for G-tube placement (OR = 0.09, 95% CI = 0.04-0.18, p < 0.00001) and lowered hospital costs (MD = -47.90 thousand USD, 95% CI = -59.93 to -35.87, p < 0.0001). A shorter hospital stay was observed but was not statistically significant.

Conclusions: MDO offers better airway outcomes, lower G-tube placement rates, and reduced costs, making it a preferred option. Larger studies within the same syndromic status are needed to minimize confounding factors and validate these findings.

Craniosynostosis is rarely diagnosed in utero. Prenatal diagnosis has the potential to improve patient outcomes and streamline care, however, and is becoming more feasible as technology improves. The objective of this study is to examine existing literature on prenatal diagnosis of nonsyndromic craniosynostosis.

In accordance with PRISMA guidelines, Embase, Cochrane, and PubMed were searched for articles discussing prenatal diagnosis of nonsyndromic craniosynostosis via imaging studies. Studies that exclusively examined syndromic craniosynostosis were excluded.

Diagnostic criteria for prenatal diagnosis of craniosynostosis.

The search identified 2129 articles. And 12 articles met inclusion criteria and were included in the final analysis. Ten of 12 included studies (83.3%) utilized biometric data (biparietal and occipitofrontal diameter, cranial index) to analyze fetal head shape. Two of 12 studies (16.7%) utilized specific ultrasonic markers to identify craniosynostosis including a "brain shadowing sign." One study (8.3%) created a systematic quantitative screening methodology with formal shape analysis for identification of sagittal synostosis. In all included studies, identification of craniosynostosis was possible in the second or third trimesters.

Prenatal diagnosis of craniosynostosis is feasible and has the potential to improve patient outcomes. Creation of screening protocols and standardized metrics for sonographic diagnosis are important next steps in craniosynostosis care.

This case report presents the multidisciplinary treatment of a male patient with a complex form of frontonasal dysplasia who presented with a 0 to 14 facial cleft, mild hypertelorism, absence of the nasal medial process of the nose, and frontonasal encephalocele. Cranial and plastic surgeries were performed to correct hypertelorism and improve the esthetic appearance of the frontonasal region. In the permanent dentition, the patient presented a Class II, division 1 malocclusion with severe maxillary constriction and bilateral posterior crossbite. Comprehensive orthodontic treatment started at 12 years of age and included rapid maxillary expansion followed by fixed appliance. Orthognathic surgery was performed at 21 years of age involving a forward movement of both maxilla and mandible. After debonding, veneers were made in maxillary anterior teeth to improve tooth shape and Bolton discrepancies. An improvement in facial esthetics and an adequate final occlusion were achieved. Multidisciplinary treatment was essential for morphological rehabilitation and social inclusion in patients with rare craniofacial anomalies.

The decision to undertake rhinoplasty maneuvers during cleft lip repair remains controversial. Little data compare long-term outcomes with and without primary rhinoplasty (PR). This study compared nasolabial outcomes in cohorts with unilateral cleft lip (UCL) treated with and without PR at the Children's Hospital of Philadelphia using standardized aesthetic and anthropometric assessments.

Retrospective cohort study.

Tertiary care pediatric hospital.

Patients who underwent lip repair for UCL.

Cleft lip repair with and without PR.

Anthropometric analyses and crowdsourced aesthetic assessments using Americleft nasolabial appearance reference scales and pairwise comparisons.

Among 208 patients, 155 (74.5%) and 53 (25.5%) underwent lip repair with and without PR at 4.5 ± 1.1 months. Primary rhinoplasty (β = 0.345, P = .037) and a lower Cleft Lip Severity Index (β = -0.341, P < .001) predicted superior pairwise rank at 4.9 ± 1.9 years of age. History of PR predicted decreased columellar deviation angle (CDA) (β = -2.375, P = .019) and improved nostril symmetry (β = 0.111, P = .038). Increased columellar-labial angle (r = 0.27, P = .002), improved nostril symmetry (r = -0.23, P = .01), and decreased CDA (r = -0.45, P < .001) correlated with superior ratings. Patients with ˂20 days of postoperative nasal stenting had inferior lateral ratings (2.4 ± 0.6 vs 2.1 ± 0.5, P = .005). Those who underwent surgery at ˂5.3 months had inferior nasal projection (Goode's ratio 0.56 ± 0.09 vs 0.62 ± 0.08, P = .006).

Primary rhinoplasty for UCL offers superior aesthetic results in early childhood by layperson and anthropometric assessments. Specific improved characteristics from PR-CDA and nostril symmetry-most greatly influence layperson perception of nasal appearance. Older age at surgery predicted increased nasal projection, while prolonged nasal stenting predicted superior profile appearance.