Identification of a de novo PUF60 variant associated with craniofacial microsomia.

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

Robin Sequence Facial Profile After Conservative Treatment: A Long-Term Follow-Up.

INTRODUCTION: Robin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible for releasing feeding and respiratory impairment but little information about mandibular growth is known in long-term follow-up. OBJECTIVE: Assessing the longitudinal behavior of the facial profile of individuals with isolated RS who underwent conservative micrognathia treatment using photographs during the whole craniofacial growth. METHODS: Photographs of the right facial profile of 100 patients were used (50 individuals with isolated RS and 50 individuals without craniofacial anomaly). The individuals with RS were evaluated at 3 different times (T1: infant, T2: mixed dentition, T3: permanent dentition) by measuring the facial convexity angle (FCA; G.Sn.Pog´). A comparison between T3 and control group (C), individuals without craniofacial anomalies and in permanent dentition, was also performed, checking the FCA, nasolabial angle (Ls.Sn.Cm), mentolabial fold (Li.Si.Pog´), facial inferior third (Sn.Gn´.C) angles and the ratio between middle anterior facial height and lower anterior facial height. RESULTS: The T3 group showed an increased angle of facial convexity and increased facial inferior third angle and middle anterior facial height/lower anterior facial height ratio compared with the control group. In the longitudinal evaluation of individuals with isolated RS, significant differences were identified between T1 and T2 groups and T1 and T3 groups showing that the increased facial convexity was higher in the infants and that did not change significantly between the phases of mixed and permanent dentition. CONCLUSIONS: RS showed increased facial convexity in all phases evaluated, but their convexity decreased with growth. When compared with individuals without craniofacial anomalies, the individuals continue to exhibit retrognathism in the permanent dentition. The lack of a mandible projection has led to a considerable number of orthognathic surgeries for the correction of discrepancies.

Speech Outcomes Audit for Unilateral Cleft lip and Palate After 2-Stage Palate Repair: Preliminary Results.

Primary cleft lip and palate surgeries can interfere with speech status, facial appearance, maxillary growth, and psychosocial and academic development. Therefore, different surgical protocols and techniques have been proposed, and adequate velopharyngeal function and speech is the main goal for the treatment success. The present study aimed to report preliminary speech results of the 2-stage palate repair of children with unilateral cleft lip and palate. One hundred seventy nonsyndromic patients with unilateral cleft lip and palate were included in this report, 35% males and 65% females, submitted to the 2-stage palatoplasty protocol, composed by lip, nasal ala, and hard palate repair at 3 to 6 m (stage 1) and soft palate repair at 12 to 18 m (stage 2). The target age range for speech recording was 5 to 10 years, and the speech material included repetition of Brazilian Portuguese sentences. These samples were obtained over 5 years and assessed by 3 of 14 experienced speech pathologists. When discordant, the majority rate was adopted. Average velopharyngeal dysfunction (VPD) rates were 19,5%, varying according to the soft palate technique, with better results when the Sommerlad technique was performed (VPD=11%), followed by Braithwaite (VPD=15%) and then Von Langenbeck (VPD=25%). Passive errors were observed in 32% and active errors in 25%. Speech results reflect the outcomes of an interdisciplinary team's work, where facial growth and nasolabial appearance must also be considered. Further analysis and a wider casuistic are recommended. Hence outcomes audit needs to be a permanent process, providing solid and updated evidence for optimal cleft care.

Growth Outcomes Audit for Unilateral Cleft Lip and Palate (UCLP) After 2-stage Palate Repair.

PURPOSE: To assess the impact of 1 and 2-stage palatoplasty protocol on the dental arch relationships in unilateral cleft lip and palate (UCLP) in a single center. METHODS: Our study consisted of 349 individuals divided into 2 groups according to the palatoplasty protocol. Two-stage group comprised 169 subjects with UCLP (mean age: 6.9 y, 110 male and 59 female) who underwent lip, nasal ala, and anterior palate repair with vomer flap from 3 to 6 months (first surgery stage). Soft palate repair occurred from 12 to 18 months (second surgery stage). The one-stage group comprised 180 subjects with UCLP (mean age: 7.2 y, 108 male and 72 female) who underwent 1-stage palatoplasty. Dental models were evaluated by 3 experienced orthodontists applying Goslon Yardstick and the 5-year-old index (FYOI). The influence of the palatoplasty technique and surgeon factor on the interarch relationship was evaluated. The weighted Kappa was used to assess intraexaminer and interexaminer agreements for comparisons of dental arch relationships. Intergroup comparisons were conducted using the χ 2 test ( P <0.05). RESULTS: The intraexaminer reliability was very good (0.81 to 0.98) and interexaminer reliability varied from satisfactory to very good (0.56 to 0.83). The mean occlusal index of the 2-stage and 1-stage groups was 2.77 and 3.03, respectively. The variability of the mean index between surgeons varied from 2.38 to 3.2 in the 2-stage group and 2.91 to 3.2 in the 1-stage group. There were significant differences in the frequency of Goslon 5 index ( P =0.002) between groups, with the 2-stage group presenting less cases (1.18%) than the group 1-stage (11.11%). CONCLUSION: The interarch relationship was similar for both palate repair protocols. Two-stage palatoplasty showed a decreased prevalence of Goslon index 5.

Core outcomes for orofacial clefts: reconciling traditional and ICHOM minimum datasets.

OBJECTIVE/DESIGN/SETTING: This retrospective study sought voluntary participation from leading cleft centres from Europe and Brazil regarding core outcome measures. The results of this study would inform the debate on core outcome consensus pertaining to the European Reference Network for rare diseases (ERN CRANIO) and achieve a core outcome set for cleft care providers worldwide. INTERVENTION/METHOD: Five orofacial cleft (OFC) disciplines were identified, within which all of the International Consortium of Health Outcomes Measurement (ICHOM) outcomes fall. One questionnaire was designed for each discipline and comprised 1. the relevant ICHOM's outcomes within that discipline, and 2. a series of questions targeted to clinicians. What core outcomes are currently measured and when, did these align with the ICHOM minimum, if not how did they differ, and would they recommend modified or additional outcomes?. RESULTS: For some disciplines participants agreed with the ICHOM minimums but urged for earlier and more frequent intervention. Some clinicians felt that some of the ICHOM standards were compatible but that different ages were preferred and for others the ICHOM standards were acceptable but developmental stages should be preferred to absolute time points. CONCLUSION/IMPLICATIONS: Core outcomes for OFC were supported in principle but there are differences between the ICHOM recommendations and the 2002 WHO global consensus. The latter are established in many centres with historical archives of OFC outcome data, and it was concluded that with some modifications ICHOM could be moulded into useful core outcomes data for inter-centre comparisons worldwide.

Outcomes of permanent canines on the cleft side after secondary alveolar grafting using different materials in complete unilateral cleft lip and palate.

The prevalence of impaction of the permanent canine on the cleft side (PCCS) ranges from 12-35% after alveolar bone grafting (ABG). PCCSs usually develop above other permanent teeth in the alveolar process, gradually becoming vertical until they reach the occlusal plane. The type of cleft, hypodontia of lateral incisor on the cleft side, slower PCCS root development, and genetic factors are predictors of impaction and/or its ectopic eruption. To compare the behavior of PCCS in individuals with complete unilateral cleft lip and palate (UCLP) subjected to secondary alveolar grafting (SAG) with different materials. This retrospective longitudinal study analyzed 120 individuals undergoing SAG with iliac crest bone, rhBMP-2, and mandibular symphysis. The individuals were selected at a single center and equally divided into three groups. Panoramic radiographs were analyzed by the Dolphin Imaging 11.95 software to measure PCCS angulation and PCCS height from the occlusal plane at two different timepoints. No statistical significance was found between grafting materials (P=0.416). At T1, the PCCS height from the occlusal plane was greater for rhBMP-2 and mandibular symphysis compared to iliac crest bone. The lateral incisor on the cleft side was not related to success or lack of eruption of PCCS (P=0.870). Impaction rates of PCCS were similar for the materials studied. Absence of the lateral incisor on the cleft side did not prevent spontaneous eruption of PCCSs.

Evaluation of Radiographic Outcomes of Alveolar Graft Associated with Premaxillary Osteotomy Performed with rhBMP-2.

OBJECTIVE: To evaluate the influence of filling material and timing of surgery on radiograph outcomes of alveolar grafting with premaxillary osteotomy. The null hypothesis was that radiographic outcomes would be similar with both rhBMP-2 (rhBMP-2G) and cancellous bone from the iliac crest (IG), regardless of the timing of surgery. DESIGN: Cross-sectional study with consecutive sampling of 56 periapical or occlusal radiographs taken 12 months after surgery. SETTING: A single tertiary craniofacial center. PATIENTS/PARTICIPANTS: Twenty-eight patients with complete bilateral cleft lip and palate and mean age of 13 years. The individuals underwent bilateral alveolar grafting associated with premaxillary osteotomy (AG + PO) with rhBMP-2 or cancellous bone from the iliac crest. INTERVENTIONS: Experienced maxillofacial surgeons used the same surgical technique in both groups. AG + PO were assigned as success or failure by 3 blinded raters based on modified Bergland and SWAG scales. MAIN OUTCOME MEASURES: The influence of filling materials and timing of surgery on radiographic outcomes was verified by Fisher's exact test and chi-square test (P < .05). RESULTS: There was no significance variation between the mean age of participants in the rhBMP-2G and IG (P = .471). Scales showed almost perfect reliability (agreement rate = 96.4%; K = 0.85). rhBMP-2G and IG had similar success rates with modified Bergland scale (85.7% and 82.1%) and SWAG scale (92.9% and 82.1%), respectively. However, only modified Bergland scale found influence of age on radiographic outcomes (P = .025). CONCLUSIONS: AG + PO performed with rhBMP-2 and iliac crest bone showed similar radiographic success rates, regardless of the timing of surgery.

Outcomes of permanent canines on the cleft side after secondary alveolar grafting using different materials in complete unilateral cleft lip and palate

Abstract The prevalence of impaction of the permanent canine on the cleft side (PCCS) ranges from 12-35% after alveolar bone grafting (ABG). PCCSs usually develop above other permanent teeth in the alveolar process, gradually becoming vertical until they reach the occlusal plane. The type of cleft, hypodontia of lateral incisor on the cleft side, slower PCCS root development, and genetic factors are predictors of impaction and/or its ectopic eruption. Objective: To compare the behavior of PCCS in individuals with complete unilateral cleft lip and palate (UCLP) subjected to secondary alveolar grafting (SAG) with different materials. Methodology: This retrospective longitudinal study analyzed 120 individuals undergoing SAG with iliac crest bone, rhBMP-2, and mandibular symphysis. The individuals were selected at a single center and equally divided into three groups. Panoramic radiographs were analyzed by the Dolphin Imaging 11.95 software to measure PCCS angulation and PCCS height from the occlusal plane at two different timepoints. Results: No statistical significance was found between grafting materials (P=0.416). At T1, the PCCS height from the occlusal plane was greater for rhBMP-2 and mandibular symphysis compared to iliac crest bone. The lateral incisor on the cleft side was not related to success or lack of eruption of PCCS (P=0.870). Conclusion: Impaction rates of PCCS were similar for the materials studied. Absence of the lateral incisor on the cleft side did not prevent spontaneous eruption of PCCSs.

Late alveolar bone grafting in complete unilateral cleft lip and palate (UCLP): Biomechanical considerations for the success of orthodontic finishing.

Orthodontic treatment in patients with cleft lip and palate (CLP) is challenging. Alignment of the maxillary segments and orthodontic levelling of the teeth adjacent to the cleft area are important before alveolar bone grafting (ABG), in the permanent dentition. In this clinical report, orthodontic procedures, before and after late ABG, are described as an alternative that can optimise the orthodontic and periodontal results. The gingival margins of the teeth adjacent to the cleft area were levelled. Root divergence was corrected. Interdental papilla and improvement of the periodontal condition were obtained.

A Cleft-Customized Occlusal Rating System to Assess Orthodontic Occlusal Improvement in Patients With Unilateral Cleft Lip and Palate.

OBJECTIVE: This study aimed to develop a new method to quantify occlusal improvement in patients with unilateral cleft lip and palate (UCLP) who had undergone orthodontic treatment and to evaluate its reproducibility. DESIGN: A panel of orthodontists decided on the relevance of different occlusal features to score initial and final 3-dimensional study models and panoramic radiographs. A subsequent subjective analysis was later performed by a local orthodontic panel. SETTING: The sample was obtained from the orthodontic clinical archives of a hospital known for the treatment of patients with craniofacial differences. PATIENTS: Thirty-one nonsyndromic patients, 17 males and 14 females, were randomly selected according to preestablished inclusion/exclusion criteria. INTERVENTIONS: The records corresponded to the period during which the patients were treated with conventional multibracket mechanics and adjunctive restorative procedures. MAIN OUTCOME/MEASURES: The intraclass correlation coefficient measured intraexaminer and interexaminer agreements. The Spearman correlation test assessed the relationship between the local orthodontic panel perception and the improvement scores. RESULTS: Inter- and intra-rater ICCs varied between fair/good to excellent. There was a strong correlation between the Cleft-Customized Occlusal Rating system classification of occlusal improvement and the local orthodontic panel's perception, thereby enabling the utilization of the interpretation scale by the panel. CONCLUSIONS: The method showed to be a useful tool in quantifying and classifying occlusal improvement in this specific population. As any other method, some limitations apply and need to be accounted for.

Cephalometric predictors of hypernasality and nasal air emission.

BACKGROUND: During times of increasingly recognized importance of interprofessional practices, professionals in Medicine, Dentistry, and Speech Pathology areas cooperate to optimize treatment of velopharyngeal dysfunction (VPD), after primary palatoplasty for correction of cleft palate. OBJECTIVE: Our study aims to compare velar length, velar thickness, and depth of the nasopharynx of patients with unilateral cleft lip and palate (UCLP) with the presence, or absence, of hypernasality and nasal air emission; and to verify if the depth:length ratio, between nasopharynx and velum, would be predictive of consistent hypernasality and nasal air emission (speech signs of VPD). METHODOLOGY: Cephalometric radiographs and outcome of speech assessment were obtained from 429 individuals, between 6 and 9 years of age, with repaired unilateral cleft lip and palate. Velar length, velar thickness, depth of the nasopharynx, depth:length ratio, scores of hypernasality, and scores of nasal air emission were studied and compared; grouping the radiographs according to presence or absence of hypernasality and nasal air emission. RESULTS: For the group with speech signs of velopharyngeal dysfunction (those with consistent hypernasality and nasal air emission), the velums were shorter and thinner; the nasopharynx was deeper and the depth:length ratio was larger than the group without hypernasality and nasal air emission. Velar length was significantly shorter in individuals with consistent hypernasality and nasal air emission (p<0.001) and with history of palatal fistula (p=0.032). Depth of nasopharynx was significantly greater in individuals with consistent hypernasality and nasal air emission (p<0.001). Depthlength ratio was significantly larger in individuals with consistent hypernasality and nasal air emission (p<0.001). A depth:length ratio larger than 0.93 was always associated with speech signs of VPD. CONCLUSION: Estimated with cephalometric radiographs, a depth:length ratio greater than 0.93, between the nasopharyngeal space and the velum, was 100% accurate in predicting hypernasality and nasal air emission after primary repair of unilateral cleft lip and palate.

Influence of surgical technique and timing of primary repair on interarch relationship in UCLP: A randomized clinical trial.

OBJECTIVE: To compare dental arch relationships in children with unilateral cleft lip and palate (UCLP) between two surgical techniques for repair of cleft lip/palate and two ages of palate repair. SETTINGS AND SAMPLE: Dental models were taken for a group of 448 subjects at a mean age of 7 years and were evaluated by means of the Goslon Yardstick. The patients studied consisted of an initial group of 673 infants with complete UCLP randomized into 8 study groups according to lip repair procedures (Millard versus Spina techniques); palate repair procedures (von Langenbeck versus Furlow techniques); and palate repair timing (early: 9 to 12 months versus late: 15-18 months). METHODS: Four surgeons performed all surgeries. Dependent variables included the following: lip repair technique, palate repair technique, age at time of palate repair and surgeon; with sex as an independent variable. The data were analysed using a general linear model (P < .05). RESULTS: There were no significant differences for occlusal index scores as a function of lip or palate surgical technique, palatal repair timing and sex. Significant differences were found for occlusal index scores as a function of the surgeon. CONCLUSION: Dental arch relationships were not influenced by lip and palatal repair techniques or patient age at palatal repair. The surgeon was the major factor that influenced the dental arch relationship outcome.

Cephalometric predictors of hypernasality and nasal air emission

Abstract During times of increasingly recognized importance of interprofessional practices, professionals in Medicine, Dentistry, and Speech Pathology areas cooperate to optimize treatment of velopharyngeal dysfunction (VPD), after primary palatoplasty for correction of cleft palate. Objective Our study aims to compare velar length, velar thickness, and depth of the nasopharynx of patients with unilateral cleft lip and palate (UCLP) with the presence, or absence, of hypernasality and nasal air emission; and to verify if the depth:length ratio, between nasopharynx and velum, would be predictive of consistent hypernasality and nasal air emission (speech signs of VPD). Methodology Cephalometric radiographs and outcome of speech assessment were obtained from 429 individuals, between 6 and 9 years of age, with repaired unilateral cleft lip and palate. Velar length, velar thickness, depth of the nasopharynx, depth:length ratio, scores of hypernasality, and scores of nasal air emission were studied and compared; grouping the radiographs according to presence or absence of hypernasality and nasal air emission. Results For the group with speech signs of velopharyngeal dysfunction (those with consistent hypernasality and nasal air emission), the velums were shorter and thinner; the nasopharynx was deeper and the depth:length ratio was larger than the group without hypernasality and nasal air emission. Velar length was significantly shorter in individuals with consistent hypernasality and nasal air emission (p<0.001) and with history of palatal fistula (p=0.032). Depth of nasopharynx was significantly greater in individuals with consistent hypernasality and nasal air emission (p<0.001). Depthlength ratio was significantly larger in individuals with consistent hypernasality and nasal air emission (p<0.001). A depth:length ratio larger than 0.93 was always associated with speech signs of VPD. Conclusion Estimated with cephalometric radiographs, a depth:length ratio greater than 0.93, between the nasopharyngeal space and the velum, was 100% accurate in predicting hypernasality and nasal air emission after primary repair of unilateral cleft lip and palate.

Influence of bone-anchored maxillary protraction on secondary alveolar bone graft status in unilateral complete cleft lip and palate.

INTRODUCTION: Our objective was to evaluate the effects of bone-anchored maxillary protraction (BAMP) on the status of the secondary alveolar bone graft in patients with unilateral complete cleft lip and palate (UCLP). METHODS: The experimental group (EG) comprised 26 patients with UCLP, mean age of 11.9 years, submitted to secondary alveolar bone grafting (SABG) with recombinant bone morphogenetic protein, and BAMP therapy, using miniplate-borne Class III intermaxillary elastics. Cone beam computed tomography (CBCT) examinations were taken 6 months after SABG and before BAMP (T1) and after 18 months of BAMP therapy (T2). The control group (CG) was composed of 24 patients with UCLP submitted only to SABG with recombinant bone morphogenetic protein or autogenous bone from iliac crest without BAMP therapy, matched by initial age and sex with the EG. In the CG, CBCT examinations were performed 6 months (T1) and 12 months (T2) after SABG surgery. CBCT axial sections were analyzed using Garib scores in both time points. Intra- and intergroup comparisons were performed using Wilcoxon and Mann-Whitney tests, respectively (P <0.05). RESULTS: No intergroup differences were found at T1 and T2. The EG showed significant improvement of graft status from T1 to T2 at the cervical and middle levels of the alveolar cleft. No significant interphase differences were found for graft scores in the CG. CONCLUSIONS: Despite loads of intermaxillary elastics applied to the maxilla, no harm to the grafted alveolar bone was observed after BAMP therapy in patients with UCLP.

Outcomes of Alveolar Graft With Rhbmp-2 in CLP: Influence of Cleft Type and Width, Canine Eruption, and Surgeon.

OBJECTIVE: To evaluate the influence of cleft type and width, canine eruption stage, and surgeon on the outcomes of alveolar graft with rhBMP-2. DESIGN: Cross-sectional. SETTING: Tertiary craniofacial center. PARTICIPANTS: Ninety individuals submitted to alveolar graft in late mixed or early permanent dentition. INTERVENTIONS: The 90 individuals (mean age: 16.8 years) were submitted to alveolar graft with rhBMP-2. Periapical radiographs were obtained before and 6 months after surgery. Surgeries were performed by 4 experienced maxillofacial surgeons. The alveolar grafts were assigned as success or failure by 3 blinded raters based on the modified Bergland and Chelsea scales. Permanent canines adjacent to the defect were assigned as erupted and not erupted. The greatest cleft width was measured on preoperative periapical radiographs. MAIN OUTCOME MEASURES: The influence of 4 independent variables (cleft type, cleft width, canine eruption phase, and surgeon) on the outcome of alveolar graft was analyzed by multivariate logistic regression ( P < .05). RESULTS: All independent variables presented significant influence on alveolar graft outcome. The subgroup of unerupted maxillary canines demonstrated better outcomes than erupted canines ( P = .001). The group with cleft lip and alveolus (CL/A) demonstrated better outcomes than complete cleft lip and palate (CLP; P < .001). The greater the alveolar cleft width, the less favorable were the graft outcomes ( P = .027). The surgeon also had a significant influence on the surgery success ( P = .003 and .001). CONCLUSION: The type and width of CLP, the eruption of permanent canines, and the surgeon influenced the outcome of alveolar graft surgeries performed with rhBMP-2.

Facial Growth Changes Induced by Orthodontic Treatment in Patients With Unilateral Cleft Lip and Palate.

The aim of this study was to investigate the effect of orthodontic treatment on the maxillofacial growth of patients with unilateral cleft lip and palate. The Great Ormond Street, London and Oslo (GOSLON) yardstick was used for a longitudinal evaluation of 24 patients with cleft lip and palate treated at the Cleft Center of the Lauro Wanderley University Hospital, Paraiba State, northeastern Brazil. Dental casts were evaluated by 3 orthodontists and classified according to the GOSLON yardstick. The evaluation was performed at 2 different stages: T1 (before orthodontic treatment) and T2 (follow-up evaluation) after a 6-year mean follow-up interval. The Kappa test was used to evaluate intra- and interexaminer agreement, and paired t-test was used to compare the differences between T1 and T2, with a 99% confidence interval. The average intraexaminer Kappa was 0.979, ranging from 0.971 to 0.990. The interexaminer Kappa value was 0.926 at T1, ranging from 0.885 to 0.964, and 0.896 at T2, ranging from 0.696 to 1.0. The mean GOSLON yardstick found at T1 was 2.5 ±â€Š1.18 with 50% in G1 + G2, 29.18% in G3, and 20.82% in G4 + G5. At T2, the GOSLON average was 1.71 ±â€Š1.12, with 79.18% in G1 + G2, 12.5% in G3, and 8.32% in G4 + G5. A statistically significant difference was found between T1 and T2. The results suggest that orthodontic treatment improves facial growth in patients with unilateral cleft lip and palate.

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.

The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor ear anomalies, clubfeet and first and 5 ray defects. The findings from this study are useful for better understanding the morphological consequences of disorders of EIF4A3, and having a better picture of the anatomic characteristics of the syndrome for a better therapeutic planning. Twenty-four angular and linear variables were measured to assess anteroposterior and vertical (superior-inferior) position of the cranial base, maxilla, mandible, and facial profile. The cephalometric radiographic analysis was performed on 9 individuals with RCPS, obtained at a mean age of 10.3 years, and compared with randomly selected age-matched 9 controls, without clefts and with well-balanced faces, with mean age of 10.6 years (both groups range 8.1 to 13.7 years). t test was used for analysis of means and Levene test for equality of variances. The syndrome group presented severe mandibular hypoplasia and retrognathism (P = 0.009, P = 0.001), greater facial convexity (N'PnPog and N'SnPog, P < 0.05) in syndrome group compared with the control group (P = 0.003, P = 0.004). In conclusion, in the RCPS group, most craniofacial defects affect the lower facial third, considering the severely affected mandible.

Facial and Nasolabial Aesthetics of Complete UCLP Submitted to 2-Stage Palate Repair With Vomer Flap.

OBJECTIVE: To evaluate the aesthetics of nasolabial appearance and facial profile of children with unilateral cleft lip and palate (UCLP) submitted to 2-stage palate repair with vomerine flap. DESIGN: Retrospective. SETTING: Single center. PATIENTS: Forty patients with UCLP, mean age of 7.81 years of both sexes, rehabilitated at a single center by 1 plastic surgeon. INTERVENTIONS: Lip and anterior palate repair with nasal alar repositioning was performed at 3 to 6 months of age by Millard technique and vomer flap, respectively. Posterior palate was repaired at 18 months by Von Langenbeck technique. MAIN OUTCOME MEASURE(S): Four cropped digital facial photographs of each patient were evaluated by 3 orthodontists to score the nasolabial aesthetics and profile. Frequencies of each score as well means and medians were calculated. Kappa test was used for evaluating inter- and intrarater reproducibility. RESULTS: The nasal form and deviation was scored as good/very good in 70%, fair in 22.5%, and poor in 7.5% of the sample. The nasal-subnasal aesthetic was considered good/very good in 55%, fair in 30%, and poor in 15% of the sample. The lip vermilion border and the white part of surgical scar aesthetics were good/very good in 77.5% and 80%, fair in 17.5% for both categories, and poor in 5% and 2.5% of the cases, respectively. In all, 67.5% showed convex facial profile, 20% was straight, and 12.5% was concave profile. CONCLUSIONS: Two-stage palatoplasty presented an adequate aesthetical results for the majority of patients with UCLP in the mixed dentition.

Slow versus rapid maxillary expansion in bilateral cleft lip and palate: a CBCT randomized clinical trial.

OBJECTIVES: The purpose of this "two-arm parallel" trial was to compare the orthopedic, dental, and alveolar bone plate changes of slow (SME) and rapid (RME) maxillary expansions in patients with complete bilateral cleft lip and palate (BCLP). MATERIAL AND METHODS: Forty-six patients with BCLP and maxillary arch constriction in the late mixed dentition were randomly and equally allocated into two groups. Computer-generated randomization was used. Allocation was concealed with sequentially, numbered, sealed, opaque envelopes. The SME and RME groups comprised patients treated with quad-helix and Haas/Hyrax-type expanders, respectively. Cone-beam computed tomography (CBCT) exams were performed before expansion and 4 to 6 months post-expansion. Nasal cavity width, maxillary width, alveolar crest width, arch width, palatal cleft width, inclination of posterior teeth, alveolar crest level, and buccal and lingual bone plate thickness were assessed. Blinding was applicable for outcome assessment only. Interphase and intergroup comparisons were performed using paired t tests and t tests, respectively (p < 0.05). RESULTS: SME and RME similarly promoted significant increase in all the maxillary transverse dimensions at molar and premolar regions with a decreasing expanding effect from the dental arch to the nasal cavity. Palatal cleft width had a significant increase in both groups. Significant buccal inclination of posterior teeth was only observed for RME. Additionally, both expansion procedures promoted a slight reduction of the alveolar crest level and the buccal bone plate thickness. CONCLUSIONS: No difference was found between the orthopedic, dental, and alveolar bone plate changes of SME and RME in children with BCLP. Both appliances produced significant skeletal transverse gains with negligible periodontal bone changes. Treatment time for SME, however, was longer than the observed for RME. CLINICAL RELEVANCE: SME and RME can be similarly indicated to correct maxillary arch constriction in patients with BCLP in the mixed dentition.