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Patients with bilateral complete cleft lip and palate (BCLP) may present a vertical excess of the premaxilla in childhood. This is a severe functional and aesthetic problem, where bone grafting is more challenging. The aim of this study was to describe a simple and reproducible non-surgical orthopaedic treatment for vertical excess of the premaxilla in the deciduous/early mixed dentition phase in BCLP patients. Six growing patients with complete BCLP with a severe vertical excess of the premaxilla were included. An intrusion device associated with a bonded rapid palatal expander was applied to intrude the premaxilla. Radiographic and photographic records obtained before and at the end of the orthodontic intrusion, at short- and long-term follow-up, were available. A flattening of the occlusal plane was achieved in all patients. Normalization of the position of the maxillary incisors and gingival display in relation to the upper lip was obtained, and an improvement in anterior nasal spine position was also observed in all cases. The novel technique described might be of assistance in treating BCLP children with vertical excess of the premaxilla during the deciduous/early mixed dentition phase. This simplified, easily reproducible method may allow the burden of care of this rare but complex problem affecting BCLP patients to be reduced significantly.

Introduction The objective of this study was to evaluate short and long-term results of the application of the alternate rapid maxillary expansion/constriction (Alt-RAMEC) technique in patients with skeletal Class III malocclusion. Methods Forty-two white patients were consecutively treated with the Alt-RAMEC technique. The average age of the patients was 12.7 ± 1.6 years (range, 9.4-15.9 years) before protraction. The average age at long-term follow-up was 19.4 ± 2.8 years (range, 17.2-26.9 years). A sample of nontreated patients with Class III malocclusion from the archives of orthognatic surgery in our hospital was used as a control group. The initial records were matched for sex, the severity of Class III malocclusion, and age (mean, 12.1 ± 1.4 years; range, 9.7-14.1 years) with the old records available in the archive. The control sample had records presurgery (mean, 19.8 ± 2.2 years; range, 16.6-21.6 years). Results The sagittal advancement of A-point, after the application of the technique, was 5.43 ± 2.71 mm. Some mandibular dentoalveolar adaptation was noted. The position of the maxilla was stable in the long term. In contrast, the control group showed limited growth at the maxillary level during the long-term follow-up period. Conclusions Our results showed that the Alt-RAMEC technique, performed at the correct time, with a double-hinged expander, followed by Class III spring or elastic traction, 24 h/d, allows for satisfactory maxillary protraction, with stable long-term results. The comparison with a sample of matched nontreated patients with Class III malocclusion allowed to suggest the positive effect of the treatment on the maxillary position vs the natural evolution of the Class III skeletal discrepancy.

Aim This study compares long-term mandibular growth between a group of Beckwith-Wiedemann Syndrome (BWS) patients who underwent glossectomy at an early age and a group of patients not operated. Methods Cephalometric measurements were performed in BWS patients comparing the data obtained between a group of patients operated at an early age and a group of non-operated patients who declined surgery. Statistics included independent sample T-test. Results Twenty-four out of 78 BWS patients followed since birth completed longitudinal cephalometric x-rays at age 5, 10 and 15. Eighteen patients needed early surgery. Eleven families accepted glossectomy at 2.3 ± 1.3 years of age; seven declined surgery. No differences in mandibular growth were found between the two groups. Inclination of maxillary incisors results were statistically greater in the non-operated group (operated compared to the non-operated group: 103.58 ± 11.30 Vs 108.98 ± 12.47; p-value 0.0168 at 5; 107.06 ± 7.98 Vs 115.14 ± 7.05; p-value 0.0206 at 10; 109.80 ± 4.68 Vs 116.75 ± 5.28; p-value 0.0233 at 15). Conclusion Macroglossia has no role in the post-natal mandibular overgrowth in BWS and mandibular overgrowth is part of the syndrome. Therefore, early glossectomy does not change mandibular growth and does not prevent the development of class III skeletal malocclusion in these patients.

Objectives Malocclusion affects the psychological wellness and social interaction, impacting negatively on adolescents’ quality of life and self-esteem. Facial attractiveness is mostly based on the esthetics of the smile and patients seek orthodontic treatment mainly to improve aesthetics. The aim of this prospective clinical study is to compare the psychosocial impact of aligners (AL) and fixed appliances (FA) as orthodontic treatments in patients affected by craniofacial anomalies (CFA). Methods 100 syndromic Caucasian patients with CFA followed in two different hospitals were divided in two groups: 50 patients treated with AL and 50 patients treated with FA. The two groups were matched for gender, age and CFA and filled out a modified psychosocial impact of dental aesthetics questionnaire (mPIDAQ). Results Patients affected by CFA treated with AL reported a better psychosocial impact than patients treated with FA, showing higher esthetic self-perception and self-esteem, lower social interaction impairments, and lower physical/practical disturbances. Conclusions The results of this study suggest that AL could be a valid alternative, especially in complex patients with CFA. Since AL application requires more cooperative patients the orthodontist should dedicate more time to motivate the patient to adhere to the treatment schedule.

Objective: To evaluate patency of circummaxillary sutures in children with Apert, Crouzon, and Pfeiffer Syndromes and to compare it to a nonsyndromic matched control group. Design: Case–control study. Setting: Tertiary care public hospital. Materials and Methods: Thirty-eight computed tomography (CT) scans of patients affected by syndromic craniofacial synostosis (13 patients with Apert syndrome, 20 patients with Crouzon syndrome, and 5 patients with Pfeiffer syndrome), average age 5 ± 2.8 years, range 1.9 to 12 years, were compared to age- and sex-matched control CTs of 38 nonsyndromic children. Computed tomography scans of the study group had to be performed prior to any midfacial surgery. Main Outcome Measures: Midpalatal suture, zygomaticomaxillary sutures, and pterigomaxillary sutures were evaluated and scored. Results: The syndromic group showed a significant earlier ossification of all sutures compared to the nonsyndromic group. Significant differences were already present in early childhood and continued through adolescence. Conclusions: Based on the differences in terms of maxillary sutural ossification identified, midfacial hypoplasia does not seem to be only secondary to premature cranial base ossification, but also to primary synostosis of facial sutures, thus providing new insights into the pathogenesis of midface deficiency in children with craniofacial-synostosis. Care should be taken when planning any maxillary orthopedics, such as expansion or maxillary protraction, given the high frequency of early fusion of circummaxillary sutures.

Objective Describe the first hybrid global simulation-based comprehensive cleft care workshop, evaluate impact on participants, and compare experiences based on in-person versus virtual attendance. Design Cross-sectional survey-based evaluation. Setting International comprehensive cleft care workshop. Participants Total of 489 participants. Interventions Three-day simulation-based hybrid comprehensive cleft care workshop. Main Outcome Measures Participant demographic data, perceived barriers and interventions needed for global comprehensive cleft care delivery, participant workshop satisfaction, and perceived short-term impact on practice stratified by in-person versus virtual attendance. Results The workshop included 489 participants from 5 continents. The response rate was 39.9%. Participants perceived financial factors (30.3%) the most significant barrier and improvement in training (39.8%) as the most important intervention to overcome barriers facing cleft care delivery in low to middle-income countries. All participants reported a high level of satisfaction with the workshop and a strong positive perceived short-term impact on their practice. Importantly, while this was true for both in-person and virtual attendees, in-person attendees reported a significantly higher satisfaction with the workshop (28.63 ± 3.08 vs 27.63 ± 3.93; P = .04) and perceived impact on their clinical practice (22.37 ± 3.42 vs 21.02 ± 3.45 P = .01). Conclusion Hybrid simulation-based educational comprehensive cleft care workshops are overall well received by participants and have a positive perceived impact on their clinical practices. In-person attendance is associated with significantly higher satisfaction and perceived impact on practice. Considering that financial and health constraints may limit live meeting attendance, future efforts will focus on making in-person and virtual attendance more comparable.

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life. Achondroplasia is the most common skeletal dysplasia and is characterized by various lifelong clinical, functional and psychosocial challenges for affected individuals. This first International Consensus Statement on the care of children and adults with achondroplasia aims to facilitate the global standardization and improvement of achondroplasia clinical care.

BACKGROUND The medial and maxillary aspects of the upper lip originate at separate embryonic stages and therefore may experience different maternal exposure patterns which may affect methylation. Based on this hypothesis, we investigated the level of methylation of the methylene tetrahydrofolate reductase promoter gene (mMTHFR) in tissues from cleft lip, and mMTHFR levels by MTHFR c.677C > T genotype. We further investigated whether mMTHFR mitigates the effect of smoking on long interspersed nuclear element (LINE-1) methylation in these tissues. METHODS DNA extracted from medial and lateral tissues of 26 infants with nonsyndromic cleft lip with or without cleft palate (nsCL/P) was bisulfite converted and mMTHFR was measured on a pyrosequenser. LINE-1 methylation and MTHFR c.677C > T genotype data were obtained in our previous study. RESULTS There was no substantial difference in mMTHFR (p = .733) and LINE-1 (p = .148) between the two tissues. mMTHFR was not influenced by MTHFR c.677C > T genotype, but there was suggestive evidence that the difference was larger among infants exposed to maternal smoking compared to nonexposed. LINE-1 methylation differences were significant (p = .025) in infants born to nonsmoking mothers, but this was not apparent (p = .872) in infants born to mothers who smoked. Our Pearson's correlation analysis suggested a weak inverse association between mMTHFR and LINE-1 (r = -.179, p = .381). CONCLUSION Our preliminary observation of differences in patterns of mMTHFR levels in lip tissue suggests the interplay of gene and environment in the establishment of methylation in tissues at both sides of cleft lip. This requires investigation in a larger cohort, integrated with metabolic assessment.

A short columella and a flattened nasal tip are the characteristic stigmata of patients with complete bilateral cleft lip and palate (BCLP). Objective: The aim of this study was to assess the nasal shape of young adults with BCLP treated with primary surgical columella lengthening and nasoalveolar molding (NAM). Setting and Patients: A group of 28 young adult patients with BCLP (mean age: 19.1±1.4 years) was compared through normalized photogrammetry to a control of 28 age- and sex-matched noncleft young adults. Results: Nasal protrusion and length of the columella were not different from noncleft young adults. On the other hand, nasolabial angle, columellar width, interalar, and nasal tip width were significantly wider than the noncleft controls. Thus, 27% of the patients have requested at this time secondary correction of the excessive nasal width. Conclusions: Both NAM and primary rhinoplasty in patients with BCLP resulted in a near normal length of the columella and nasal projection until young adulthood. Nevertheless, width of all nasal features was significantly wider than the noncleft population and required secondary nasal correction in one-third of the sample.

Background: Closure of wide alveolar clefts with large soft tissue gaps and reconstruction of the dentoalveolar defect are challenging for the surgeon. Some authors successfully used interdental segmental distraction, which requires an additional surgical procedure. Objective: This study evaluates the effectiveness of tooth borne devices utilized to orthopedically advance the lesser segments, with a complete approximation of the soft tissue of the alveolar stumps, allowing traditional simultaneous soft tissue closure and bone grafting, and avoiding the need for supplementary surgery. Methods: Eight growing patients, 2 with unilateral complete cleft lip and palate (UCLP) and 6 with bilateral complete cleft lip and palate (BCLP), with large soft tissue and bony alveolar defects prior to bone grafting were prospectively selected. A banded rapid palatal expander (RPE) in BCLP and a modified RPE in UCLP combined with protraction face mask in younger patients or a modified Alt-Ramec in patients older than 12 years were applied. Radiographic and photographic records were available at T0, at the end of protraction (T1) and at least 1 year after bone grafting (T2). Results: Patients with large gaps showed a significant reduction in the bony cleft area and approximation of the soft tissues at T1. All patients received bone grafting with good healing and ossification at T2. Conclusion: In growing patients with UCLP and BCLP with large gaps, presurgical orthodontic protraction seems to be an efficient method to reduce the cleft defect, minimizing the risk of post grafting fistulas, reducing the need for supplementary surgical procedures.

OBJECTIVE A preliminary study to determine collagen fibril diameter (CF-ED) distribution on medial and lateral sides of cleft lip (CL). MATERIAL AND METHODS Tissue samples from medial and lateral sides of CL were fixed in 2.5% glutaraldehyde and 1% osmium tetroxide and embedded in Araldite CY212 resin for transmission electron microscopy. The analysis of CF-ED was performed using the ImageJ program. To characterize the packaging of collagen fibrils (CFs) in the two tissues, we estimated the collagen number density (CF-ND) and fibril-area-fraction (FAF). Differences in measurements across the two sides were calculated using Wilcoxon signed-rank test. RESULTS The CF-ED was statistically significantly (p

Objective: The objective of this retrospective longitudinal study was to evaluate short- and long-term results of the application of the Liou Alt-RAMEC (alternate rapid maxillary expansion and constriction) technique, a late orthopedic maxillary protraction technique, with intraoral anchorage, in patients with cleft. Materials and Methods: Twenty-six patients with unilateral cleft lip and palate (UCLP) were consecutively treated with the Alt-RAMEC technique. The average age of the patients was 11.7 years (10.3-13.2 years) before protraction and 18.3 years (17.4-21.1 years) at long-term follow-up. A sample of nontreated patients with UCLP was used as a control group. It was matched for sex, skeletal class III, and age (11.3 years). The control sample had records at the end of growth (18.7 years). Results: The sagittal advancement of A-point, after the application of the technique, was 5.7 (2.17) mm. Some mandibular dentoalveolar and positional adaptation was noted. The position of the maxilla was stable in the long term. On the other hand, the UCLP control group showed hardly any growth at the maxillary level during the long-term follow-up period. Conclusion: Our results showed that the Alt-RAMEC technique, performed at the correct time, with a double-hinged expander, followed by class III spring or elastic traction, 24 hours per day, allows for satisfactory maxillary protraction, with, at this stage, apparently stable long-term results. Nevertheless, as only 50% of the patients had long-term follow-up data, we are still unable to predict the percentage of patients which will not eventually need orthognathic surgery.

Objective: Nasal stigma in patients with bilateral cleft lip and palate (BCLP) are a short columella and a flattened nasal tip. Design: The aim of this study was to evaluate the aesthetics of adolescents with BCLP, operated with a modified Cutting primary columella lengthening technique, associated to a modified Grayson orthopedic nasoalveolar molding (NAM). Setting and Patients: 72 BCLP patients were operated with this approach. Standardized photographic records were taken every 2 years. A group of 23 patients between 12 and 13 years of age was compared through normalized photogrammetry to a matched control of 23 noncleft adolescents. Results: Nasal protrusion and length of the columella were very close to normal. On the other hand, nasolabial angle and interalar width were still excessively wide compared to the noncleft sample. Conclusions: NAM and primary columella lengthening in BCLP has allowed to avoid traditional secondary columella lengthening at 5 to 6 years of age and given the patients a more pleasing, near-normal nasolabial appearance until adolescence. Some of the patients will require correction of the nasal width at a later stage.

Introduction: The objective of this prospective study was to compare the difference in pain perception between treatment with aligners (AL) and fixed appliances (FA) in patients affected by cleft and craniofacial anomalies (CFA). Methods: The sample consisted of 100 syndromic caucasian patients affected by various CFA from 2 different hospitals. Fifty patients treated with AL were matched for sex, age, and CFA with a control sample of 50 patients treated with FA. A modification of the Mc Gill Pain Questionnaire was adapted to our needs. Results: Statistical differences were found. Aligners induced more tightness and tension than FA, while FA induced more pain descriptors and patients reported a higher intake of painkillers. Conclusions: The results of this study documented a higher pain perception with FA than with AL in patients affected by CFA. The higher sensitivity to pain in cleft and craniofacial patients with fixed treatment could be related to their higher prior sensitization, given the past surgeries and orthodontic treatments. Thus, this study might suggest that Invisalign treatment might be a further interesting treatment option for patients with cleft in order to reduce their burden of orthodontic pain.

Introduction Cleft lip and palate (CLP) surgery interferes with maxillary growth and contributes to transversal and sagittal growth impairment. Our retrospective descriptive study aimed to evaluate maxillary bone shape in a homogenous unilateral CLP patient group using geometric morphometrics based on CT-scan data. Material and methods We included all patients with available CT-scans at the end of pubertal growth and operated on at Smile House of Milan, according to the standard protocol, involving two surgical steps: (1) primary closure of the lip and soft palate at 6 months of age and (2) early secondary gingivoalveoloplasty (GAP) associated with hard palate repair at 18–36 months. Shape differences between CLP and an age-matched control group were characterized using geometric morphometrics based on 15 3D landmarks. Results We included 16 unilateral CLP patients and 20 age-matched controls. Principal component and canonical variate analyses showed that the maxillary shape in CLP was significantly different from controls but that this difference was limited. Linear and angular measurements confirmed these differences. Conclusion Early secondary GAP results in satisfactory maxillary shape, with significant but limited differences relative to controls.

Objective: To investigate the influence of MTHFR c.677C>T genotype on LINE-1 methylation in lateral and medial tissues from cleft lip (CL). Methods: Forty-five consecutive non-syndromic cleft lip with or without cleft palate (nsCL/P) cases were included in the study. Genomic DNA was extracted from tissues at both sides of cleft lip, and LINE-1 methylation was detected by bisulfite conversion and pyrosequencing. MTHFR c.677C>T genotyping was carried out using the TaqMan genotyping assay. Results: LINE-1 methylation level was significantly higher on medial side of cleft lip compared with lateral side (p = 0.001). This difference was not significantly influenced by the case's sex or cleft type. However, MTHFR c.677C>T genotyping revealed that the difference in LINE-1 methylation across cleft lip was restricted to carriers of C allele of MTHFR c.677C>T and was not apparent in TT homozygous cases (p = 0.027). Conclusion: This integrated analysis supports the previous finding of differences in DNA methylation across the two sides of cleft lip and further suggests a possible role of MTHFR c.677C>T genotype in establishing this difference.

The aim of this paper was to assess growth, speech, and aesthetic results at the completion of growth in patients with unilateral cleft lip and palate treated with the 2 stages Milan surgical protocol.Craniofacial growth was evaluated with cephalometric analysis and a theoretical need for orthognathic surgery.Nasolabial appearance was qualitatively assessed using the Asher McDade Aesthetic Index.Speech was assessed using the Gos.Sp.Ass '98 modified for Italian language scoring system.Burden of care was recorded in terms of number of secondary surgical procedures. All of the patients were treated and evaluated at San Paolo Hospital, Smile House, Milan.Fifty-two consecutive patients treated by the same surgeon were recalled, 12 patients did not come for assessment.The first surgical step (average age of 6 months) was cheilorhinoplasty (Millard modified Delaire technique) and soft palate rapair (Pigott). The second step (average age of 35 months) was hard palate and alveolar repair performed simultaneously with an early secondary gengivo alveolo plasty. Fifty-six percent of the patients did not need further surgery after the 2-stage surgery protocol.The 2-stage surgical protocol of Milano, Smile House, seems to be effective for treatment of unilateral cleft lip and palate, with good results in terms of speech, labial appearance, and alveolar cleft management. Nevertheless, maxillary growth was moderately impaired by the protocol.

Objective The goal of this study was to evaluate the craniofacial morphology at 5 and 10 years of age and at the completion of growth, the need for final orthognathic surgery, and the orthodontic burden in a sample of patients with unilateral cleft lip and palate consecutively treated by the same surgeon with the same two-step protocol. Design A sample of 62 adult patients with unilateral cleft lip and palate was retrospectively collected (mean age, 17.5 years). Lateral cephalograms at three time points were traced. The need for orthognathic surgery was assessed, subdividing the sample into an orthognathic surgery group and nonorthognathic surgery group. Time and modality of orthodontic treatment were recorded. Results Cephalometric values related to maxillary growth (SNA, SNAns) and maxillomandibular relation (ANB, NAPg) were significantly different between the two groups already at 5 and 10 years of age. All patients presenting an ANB smaller than 2° at 5 years needed a Le Fort I osteotomy. Mandibular protrusion (SNB, SNPg) was not different at 5 and 10 years, but was different at the completion of growth. Patients with the same initial maxillomandibular relation did not show better growth when subjected to earlier or longer orthodontic treatment. Conclusion Patients needing final jaw surgery had a more severe skeletal discrepancy during early childhood. The ANB angle at 5 years allowed doctors to identify 45% of the need for orthognathic surgery. The final craniofacial pattern does not seem to change significantly with early or prolonged orthodontic treatment.

Background: Ocular protrusion is usually measured as the deepestpart of the lateral orbital rim to the apex of the cornea. Severalstudies have been carried out to propose normative data for ocularprotrusion according to different age ranges. The protrusion of theeyeball seemed to increase during childhood and adolescence andbecome stable after the late teens during adulthood. Relationshipsof ocular protrusion with age are still not completely clarified. Thepurpose of the current retrospective study was to investigate ocularprotrusion on lateral x-rays at different growth stages.Methods: Ninety-five patients were retrospectively selected anddivided into 5 different groups according to ages. Subjects were ofboth sexes with an age range from 5 to 20 years (mean 12.3 years).Thecephalometricanalysisproposedinthecurrentstudyallowedtosuccessfully evaluate sagittal relationships of the orbital-globe andthe orbital-cavity ingrowing patients. Allother sagittal andverticalmeasurementsweresuccessfullycomputedbyonetrainedoperator.Results: Analysis of variance results with post hoc correctionsshowed for the orbital measurements indicating a significantincrease of the orbital protrusion from childhood to pubertal stage.Conclusions: Ocular protrusion measurements showed significantincrease from childhood (5–8 years) to teen age (13–15 years) andremainedstableafterthepubertalgrowthspurt(17–20years)intheexamined sample of patients.Key Words: Orbital growth, orbital-globe protrusion,development, aging(J Craniofac Surg 2015;26: 760–763)

Introduction This article proposes an innovative and revolutionary diagnostic and therapeutic protocol for performing dentoalveolar osteotomies in office under local anaesthesia with piezoelectric surgery using a surgical acrylic guide produced through software-based planning. Methods The method was applied in the correction of crossbites, changing in the curve of Spee, incisal decompensations and dental ankylosis. Performing a preoperative CT with a special splint, optical scanning of the models and the subsequent planning with software has enabled us to produce a model with rapid prototyping with the design of the osteotomy on which the surgical guide was shaped, the use of the guide associated with piezoelectric surgery, allowed to perform surgery under local anaesthesia, with minimal invasiveness and high accuracy. Results Dentoalveolar immediate movements, with preservation of the roots of teeth involved, allow for rapid treatment of malocclusions which would be long and often difficult if not impossible to treat with orthodontics only. Dentoalveolar osteotomies associated to osteodistraction concepts, allow the orthodontist to achieve with accuracy the objectives required by the treatment plan. Conclusions GSOS is a new method, which, utilizing 3D optical scanning images of models, software and piezoelectric surgery, allows to perform dentoalveolar movements which may be dangerous to the roots or for the periodontal support, with orthodontics only. It dramatically reduces total surgical-orthodontic treatment time, with obvious great patient satisfaction.

Background: The goal of this study was to evaluate with a three-dimensional method the long-term quality of alveolar ossification in unilateral cleft lip and palate patients who underwent early secondary gingivoalveoloplasty according to the Milan surgical protocol. Methods: The sample consisted of 63 computed tomographic scans of unilateral cleft lip and palate patients in permanent dentition. The average age at the time of assessment was 15.7 years. Alveolar thickness, nasoalveolar height, nasal floor ossification, and hard palate morphology were evaluated using dental, axial, and coronal cuts on computed tomographic scans and three-dimensional models. All measurements were normalized and ratios of the affected side versus the nonaffected side were provided. Volume measurements and ratios of each hemimaxilla were added. The presence or absence of the permanent lateral incisor on the cleft side was also recorded. Results: Alveolar thickness and height were ideal or good, respectively, in 89.5 and 91.4 percent of the sample. Insufficient ossification (

Beckwith–Wiedemann syndrome (BWS) is the most common (epi)genetic overgrowth-cancer predisposition disorder. Given the absence of consensual recommendations or international guidelines, the Scientific Committee of the Italian BWS Association ( www.aibws.org ) proposed these recommendations for the diagnosis, molecular testing, clinical management, follow-up and tumor surveillance of patients with BWS. The recommendations are intended to allow a timely and appropriate diagnosis of the disorder, to assist patients and their families, to provide clinicians and caregivers optimal strategies for an adequate and satisfactory care, aiming also at standardizing clinical practice as a national uniform approach. They also highlight the direction of future research studies in this setting. With recent advances in understanding the disease (epi)genetic mechanisms and in describing large cohorts of BWS patients, the natural history of the disease will be dissected. In the era of personalized medicine, the emergence of specific (epi)genotype–phenotype correlations in BWS will likely lead to differentiated follow-up approaches for the molecular subgroups, to the development of novel tools to evaluate the likelihood of cancer development and to the refinement and optimization of current tumor screening strategies. Conclusions: In this article, we provide the first comprehensive recommendations on the complex management of patients with Beckwith–Wiedemann syndrome.

Aim: Comparison of the long-term follow-up until the completion of growth of two homogeneous samples of children affected by hemifacial microsomia (HFM), one treated by mandibular distraction osteogenesis (DO) in the deciduous or early mixed dentition, the other not subjected to any treatment until adulthood. Material: Fourteen patients affected by vertically severe type I or II HFM were operated at an average age of 5.9 years with an average follow-up of 11.2 years. They were compared to a sample of eight patients who were never treated until the completion of growth. Methods: Mandibular vertical changes were measured on panoramic radiographs taken at different time points. Ratios between affected and non affected ramal heights were calculated and compared. Results: In the DO sample, after correction, mandibular vertical changes showed a gradual return of the asymmetry with growth in all patients. The ratio in the non treated sample was unchanged between the initial and the long term panoramic x-rays. Conclusion: The facial proportions of HFM patients are maintained, when not treated, throughout growth. The same proportions return to their original asymmetry after DO. Even though short term aesthetic and psychological advantages of distraction osteogenesis are well accepted, early surgery should only be applied after careful patient selection and honest clarification of the long term recurrence by genetically guided craniofacial growth pattern. © 2011 European Association for Cranio-Maxillo-Facial Surgery.

The aim of this study was to evaluate any differences between the craniofacial growth of unilateral cleft lip and palate (UCLP) patients who underwent surgery in the Milan CLP centre with those from the Oslo CLP centre at 5 and 10 years of age. The Milan sample comprised 88 UCLP patients (60 males, 28 females) at 5 years of age and 26 patients (17 males, 9 females) at 10 years of age all operated on by the same surgeon. The Oslo sample consisted of 48 UCLP patients (26 males, 22 females) aged 5 years and 29 patients (20 males, 9 females) aged 10 years treated by four different surgeons. Lateral cephalometric radiographs obtained for both samples were analysed and angular measurements and ratios were calculated both for the hard and soft tissues. Statistical analysis was undertaken with an unpaired t-test. At 5 years of age, there were neither sagittal nor vertical hard tissue differences between the two groups. With regard to the soft tissues, only the naso-labial angle showed a statistically significant difference (Milan greater than Oslo by 5 degrees, P0.01). At 10 years of age, both SNA and ANB differences were larger in the Oslo group than in the Milan group,2.6 degrees, P0.01 and2.9 degrees, P0.001, respectively. At 5 years of age, the Milan UCLP sample had the same maxillary protrusion as the Oslo group, while at 10 years of age, the Milan sample were slightly less protruded than the Oslo group.

The Milan surgical protocol includes the use of an early secondary gingivoalveoloplasty together with hard palate closure at 18 to 36 months, to avoid later bone grafting. The goal of this study was to evaluate the long-term quality of ossification in patients who have undergone early secondary gingivoalveoloplasty.The samples consisted of panoramic radiographs of 87 unilateral cleft lip-cleft palate and 29 bilateral cleft lip-cleft palate patients. The records available allowed for a longitudinal and a cross-sectional evaluation of the ossification in the cleft area. Alveolar bridging was assessed using a modified Bergland's scoring system. Nasal area ossification and canine inclination were each given three different qualitative scores.The alveolar bridging noted was type I (71.7 percent), type II (23.5 percent), and type III (4.8 percent) in the whole sample of unilateral and bilateral cleft lip-cleft palate patients. No type IV ossification was found. Longitudinal analysis showed that approximately one-fourth of the cleft sites improved after permanent tooth eruption, and very few worsened. An evaluation of permanent dentition in a group of 27 unilateral and nine bilateral cleft lip-cleft palate patients (mean age, 14.8 +/- 2.0 years) showed that 15.5 percent of the whole sample had canine retention and 4.4 percent of the whole sample had to be surgically exposed.Early secondary gingivoalveoloplasty seems to allow for adequate ossification in both the alveolar and the nasal regions. Permanent tooth eruption occurs at a normal rate. None of the patients has required a secondary alveolar bone graft.

Summary Background Maxillary distraction osteogenesis (DO) in cleft lip and palate patients has been described by several authors, but most studies have a relatively short follow-up and do not clearly separate growing patients from non-growing patients. Method The records of 22 consecutive patients affected by cleft lip and palate, who underwent Le Fort I osteotomy and maxillary distraction with a rigid external distractor (RED), were reviewed. The sample was subdivided into a growing and a non-growing group. All patients had pre-DO cephalometric records, immediately post DO, 12 months post DO and long-term records with a long-term follow-up of >5 years (range 5–13 years). As a control sample for the growing group, cleft children with a negative overjet not subjected to distraction or any protraction treatment during growth were followed up until the completion of growth. Results The average maxillary advancement in the growing group was 22.2 ± 5.5 mm (range: 15–32 mm); in the non-growing group, it was 17.7 ± 6.6 mm (range: 6–25 mm). Excellent post-surgical stability was recorded in the adult sample. On the other hand, growing children had an average 16% relapse in the first year post DO and an additional 26% relapse in the long-term follow-up. Conclusions This study seems to point out that early Le Fort I DO allows for the correction of very severe deformities. It is followed by a relatively high amount of true skeletal relapse in children with cleft lip and palate. Prognosis should be discussed in depth with the family and true aesthetic and psychological needs assessed.

The sagittal relationships between the orbital globe and the ocular orbit have great importance in aesthetic and functional eval- uations. These relationships are useful in diagnosis and treatment of some malformations in which the orbital volume is reduced such as craniostenosis. The aim of the present study was the cephalomet- ric evaluation of the ocular protrusion at different growth stages. Ninety-two patients with negative history of craniosynostosis, severe myopia, and skeletal class I were selected for the present study. Lateral teleradiography x-ray was performed for all the patients, and 5 groups were carried out based on the dentition phase. Cephalometric analyses were performed on the lateral teleradiography x-ray. Mean values of ocular protrusion (B-Or post) for females and males were found and digitized for the 5 groups tested. All other sagittal and ver- tical measurements were successfully computed by the trained opera- tor. B-Or post showed values between �14.93 mm and �16.90 mm among the groups. The cephalometric analysis proposed in the pres- ent study allowed to successfully evaluate sagittal and vertical rela- tionship of the orbital globe and the orbital cavity in growing patients. Moreover, the B-Or post maintained its value during growth in the present study.

Background: Midface distraction osteogenesis (DO) in craniofacial synostosis (CFS) patients has been described by several authors. However, very few cephalometric and computed tomography (CT) long-term follow-up studies are available. Method: A total of 40 consecutive patients affected by CFS subjected to Le Fort III and rigid external distraction (RED) were examined. All patients had pre-DO cephalometric records, immediately post-DO and 6-12 months post-DO. Twenty-seven patients had mid-term records (3 years post-DO) and 20 patients had long-term records (5-10 years post-DO). Fourteen patients had CT data within 1-year of DO, while 10 patients had long-term CT data (range 5-9 years). Results: Excellent post-surgical stability was recorded. Short- and long-term CT data demonstrated excellent ossification at the osteotomy sites post-DO. In the growing patients, surface resorption in the zygomatic-temporal and in the subspinal area (p < 0.05) was observed in the long-term follow-up, as well as a mild increment of the corrected exorbitism (p < 0.05), as only appositional and no sutural growth occurs post Le Fort III, whereby orbital volume does not increase after surgery. Conclusion: Significant advancement of the midface can be achieved and maintained through Le Fort III and RED. In the long term, in growing patients, in general a class III malocclusion does not re-occur, but physiological remodelling processes at the maxillary-zygomatic level, not coupled with sutural growth, tend to mildly re-express the original midfacial phenotype and the exorbitism. © 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

No consensus exists about the causes of restriction of maxillary growth in patients with cleft lip and palate (CLP). The aim of this study was to try to identify causes of this impairment other than the influence of surgical technique and skill. We analysed a sample of 129 consecutively treated 5-year-old children with unilateral cleft lip and palate (UCLP), who were operated on by the same surgeon with the same protocol. Multiple cephalometric measurements of the sample showed a wide distribution of values for maxillary growth. We selected SNA as a value describing maxillary position. Variables investigated were: initial cast measurements; timing of lip and of gingivoalveoloplasty (GAP)/palatal surgery; and presence of permanent lateral incisors. The significance of differences was investigated with Pearson's correlation and analysis of variance (ANOVA). The factor most significantly linked with maxillary protrusion was the presence or absence of the permanent lateral incisor, even when peg laterals and supernumerary laterals were considered. Initial width of the palate measured on infant casts correlated with maxillary growth, but the timing of GAP did not. Although surgical skill and technique may be the most important factors responsible for impairment of maxillary growth, inherent tissue hypoplasia, possibly the lack of lateral incisors, seems to be the most important non-iatrogenic factor.

Long-term results after surgical treatment of the mandibular asymmetry in growing children with hemifacial microsomia (HFM), whether with osteotomies or distraction osteogenesis, have mostly shown a tendency towards the recurrence of the asymmetry. In contrast, in the literature we find sporadic case reports where the long-term post-surgical follow-up of patients diagnosed as HFM, are surprisingly stable. All these reports refer to patients who have substantially no soft tissue involvement, but only severe mandibular ramus and condyle deformities. The phenotypes of these cases are unexpectedly similar. The authors suggest, that it is possible that all of these cases might be isolated hemimandibular hypoplasias, misdiagnosed as HFM, which present a normal functional matrix and, therefore, tend to grow towards the original symmetry. Differential diagnosis between true HFM and this HFM-like isolated hemimandibular hypoplasia (pseudo-HFM) is of great importance given the very different prognosis and it is possible through the collaboration between not only surgeons and orthodontists, but also of geneticists and dysmorphologists.

Introduction Long-term results after orthopedic or surgical treatment of hemifacial microsomia (HFM) have shown a tendency toward recurrence of the facial asymmetry. However, the literature contains a number of successful case reports that show surprising changes in the morphology of the condyles. In addition, patients with similar mandibular asymmetries, treated early with surgery, have excellent long-term follow-ups, especially those who have little or no soft-tissue involvement, but only severe mandibular ramal deformities. The phenotypes of these cases are unexpectedly similar, with a consistent collapse of the condyle against the coronoid and a deep sigmoid notch. The objectives of this article were to help distinguish true HFM from this peculiar type of hemimandibular asymmetry morphologically and to quantify their differences before treatement and in the long term. Methods Panoramic radiographs taken at pretreatment and the long-term follow-up of 9 patients with hemimandibular hypoplasia, characterized by the collapse of the condyle against the coronoid, were compared with those of 8 patients with severe type I and type II HFM; these records were collected before and at least 10 years after distraction osteogenesis. Results Ratios and angular measurements before and after treatment differed significantly between the 2 groups. Conclusions Perhaps these patients were misdiagnosed and actually had secondary injuries of the condyle, which have a normal functional matrix. Therefore, with growth and functional stimulation, they would tend to grow toward the original symmetry. To make a differential diagnosis between true HFM and this peculiar type of hemimandibular hypoplasia, the collaboration between not only orthodontists and surgeons, but also geneticists and dysmorphologists, is of great importance because of the different prognoses.

The Milan surgical protocol from 1988 has included repair of lip, nose, and soft palate at 6-9 months of age, and closure of the hard palate and alveolus with an early secondary gingivoalveoloplasty at 18-36 months. The goal of this study was to evaluate the long-term maxillary growth in patients with unilateral cleft lip and palate (UCLP) who had had the early secondary gingivoalveoloplasty, compared with the growth in a sample treated before 1988, by the same surgeon, with a surgical protocol that differed only by the method and the timing of alveolar closure. In the second group they were repaired by secondary bone grafting. The samples consisted of lateral cephalograms of the UCLP early secondary gingivoalveoloplasty sample (15 patients with a mean age of 18 (1.2) years) and of the UCLP bone graft sample (10 patients with a mean age of 19 (1.1) years). The early secondary gingivoalveoloplasty patients showed that maxillary growth was inhibited compared with the secondary bone graft group. Although the early secondary gingivoalveoloplasty allowed for early repair of the alveolus together with palatal repair, eliminating the need for secondary bone grafting, it seemed to have an inhibiting influence on maxillary growth that increased the need for Le Fort I osteotomies. Even with a Le Fort I osteotomy, the early secondary gingivoalveoloplasty allows the total number of operations to be kept down to three, as in most European protocols.

Objective: To compare the short- and long-term craniofacial growth of patients operated with the Milan protocol to those operated with the Oslo protocol. Design: The Milan sample included 88 patients with unilateral cleft lip and palate (UCLP) at 5 years, 26 at 10 years, and 23 at the end of growth. The Oslo samples included 48 UCLP patients at 5 years, 29 at 10, and 23 at growth completion. Lateral cephalograms were used for comparison. An unpaired t test was run for the 5- and 10-year-old samples. The samples long term were matched for age and sex, and a paired t test was run. Results: There was no significant cephalometric difference in the maxillary prominence at 5 years, a mild but significant difference at 10 years, and again no difference at the end of growth. Nevertheless, at an older age, the need for orthognathic surgery was larger in the Milan sample (26%) than in the Oslo sample (13%). Conclusion: Although no statistically significant differences in the cephalometric measurements were found long term, the need for orthognathic surgery was clinically judged to be larger in the Milan sample. On the other hand, although the Milan protocol seemed to require more final jaw surgery, only the cases that needed an additional orthognathic procedure in the Milan group will undertake a third surgical step, while the Oslo protocol included three surgical steps for all the patients.

No true consensus exists regarding the causes of maxillary growth restriction in cleft lip and palate patients. The aim of this study was to evaluate a simplified method to identify the causes of this growth impairment. We analyzed a sample of 82 consecutively treated 5-year-old patients with unilateral complete cleft lip and palate, operated on by the same surgeon (R.B.). Multiple cephalometric measurements of the sample revealed a wide distribution of maxillary growth values. We selected Sella-Nasion A point angle (SNA) as a value describing maxillary position, and we arbitrarily isolated 2 "extreme" groups of patients: the 20 patients with the highest SNA were called "good growers" (group A), and the 20 patients with the lowest SNA were called "poor growers" (group B). Parameters investigated to search for different influencing factors within the groups were initial cast measurements, timing of lip and of gingivoalveoloplasty/palatal surgery, presence of lateral incisors, and family history of maxillary hypoplasia. Statistical differences were investigated with an independent-samples t-test. The 2 extreme groups had a significant difference (P < 0.01) in SNA and in lip protrusion relative to true vertical line. Cranial base angle was larger in group A. Timing of lip surgery in group B was earlier than in group A, but only close to significance. Timing of gingivoalveoloplasty did not differ. In group A, the permanent lateral incisor was missing in 20% of the patients; whereas in group B, it was missing in 82% of the patients (P < 0.01). Selecting cleft lip and palate population with different growth pattern might help in isolating the factors responsible for maxillary growth impairment. Congenitally missing laterals that could indicate inherent tissue hypoplasia seems to be the most important factor.

Objective:To evaluate the dental characteristics of patients subjected to a protocol that included early secondary gingivoalveoloplasty (ESGAP).Design:Panoramic radiographs of 87 patients with unilateral cleft lip and palate (UCLP) and 29 with bilateral cleft lip and palate (BCLP) were evaluated. Missing and supernumerary teeth were also quantified on the cleft and noncleft side and in the maxilla and mandible. Crown and root malformations and tooth rotations were quantified. A subsample in permanent dentition was extrapolated to analyze canine eruption patterns.Results:A total of 48.8% of the UCLP patients presented with missing permanent lateral incisors in the cleft area and 6.1% contralaterally. A total of 4.9% presented with missing second maxillary premolars on the cleft site and 1.2% contralaterally. A total of 7.3% presented with supernumerary lateral incisors, and 45% of the BCLP cleft sites presented with missing lateral incisors, while 25% of the cleft sites presented second maxillary premolars agenesis. Five percent of the cleft sites presented with supernumerary lateral incisors. Evaluation of the subsample in permanent dentition showed that 15.5% had a canine retention and 4.4% of the canines had to be surgically exposed. A significant association was observed between canine inclination and retention but not with absence of the lateral incisor.Conclusions:The frequency of dental anomalies in this sample was similar to other cleft populations. As surgical trauma has been suggested to damage forming teeth, the results of this study indicated that ESGAP has no detrimental influence on subsequent dental development.

The literature contains a number of case reports on successful orthopedic treatment of hemifacial microsomia (HFM), with surprising changes in the morphology of the condyles. All of these reports regard patients who have substantially no soft tissue involvement but only severe mandibular ramus and condyle deformities. A number of cases with unexpectedly similar phenotypes diagnosed as HFM are described. The authors suggest that it is possible that all of these cases might be misdiagnosed traumatic injuries of the condyle, which present a normal functional matrix and, therefore, with growth and with the help of functional stimulation, tend to grow toward the original symmetry.

Summary Aim After mandibular unilateral distraction osteogenesis (DO) a gradual reappearance of the vertical asymmetry during growth is observed. A pre- and post-surgical functional-orthodontic treatment was added to our distraction protocol in the attempt to increase long-term stability. In order to evaluate the actual efficacy of such a combined treatment, two samples of children affected by hemifacial microsomia were compared long-term. Material Ten children were treated by a combined orthodontic–distraction treatment, seven by distraction only. Method Only the vertical changes in the mandible and maxilla in the panoramic and postero-anterior cephalometric X-rays were measured. Results All of the patients showed a gradual return of the asymmetry with growth. Occlusal plane correction and, to a much lesser extent, mandibular vertical ramus height correction were better maintained over 5 years post-DO in the orthopaedic group. Conclusion Although orthopaedic treatment allows for a more stable occlusal plane and for a slower return of the mandibular vertical asymmetry, it has mainly a dento-alveolar effect. Therefore, the decision of applying an orthopaedic treatment associated with distraction, should be taken by surgeon and orthodontist together, considering both the advantages and the disadvantages of this treatment.

This is a longitudinal cephalometric study of patients with craniofacial synostosis (Crouzon's and Apert's) syndromes who underwent Le Fort III advancement during early childhood. The objectives of the study were to quantify presurgical growth, surgical results, and surgical stability as well as long-term postsurgical growth. Of the 31 patients operated on during their growth period (less than 10 years of age), 17 had sufficient records to be included in the study: at infancy, before the Le Fort III osteotomy (average age=7.3 years, range: 4.8-10 years), and immediately after surgery. Ten of the patients were followed radiographically long term for an average of 6.1+/-2.7 years (range: 4.5-10.8 years). The presurgical abnormal midfacial vertical growth pattern was accurately described with a progressive class III discrepancy and an increasing exophthalmos. Remarkable postoperative stability of the maxillary segment was observed. After surgery, growth of the midface was measured, together with minimal, if any, anterior growth, similar to the presurgical growth pattern and rate. No actual detrimental or beneficial effect of surgery on subsequent growth was seen. This study quantitatively confirms that the standard Le Fort III osteotomy is a stable and effective but generally not definitive procedure in childhood. This study might also serve as a control sample to compare with groups of patients undergoing distraction osteogenesis to verify the actual advantages and shortcomings of this alternative technique.

Summary Aim Prospective, longitudinal, clinical long-term follow-up study of a homogeneous sample of children affected by hemifacial microsomia and treated by mandibular distraction osteogenesis. Material Eight patients affected by types I and II hemifacial microsomia were operated on at an average age of 5.6 years with an average follow-up of 5.8 years. Methods Vertical changes were measured on postero-anterior cephalometric and panoramic radiographs taken sequentially. Results Angular changes of the infraorbital and nasal floor planes were not significant, showing that distraction osteogenesis starting after 5 years of age did not influence the maxillary skeletal base. Occlusal (plane) cant was reduced by 7° on average following distraction osteogenesis, showing good dentoalveolar plasticity. Mandibular vertical changes showed a gradual return of the asymmetry, with growth in all patients (the ratio between affected and non-affected rami returned by 77% of the correction obtained by means of distraction 5 years postoperatively). Conclusion Although aesthetic and psychological advantages of distraction osteogenesis are well accepted it should only be applied after careful patient selection and honest explanation of the long-term recurrence by genetically determined craniofacial growth patterns.

Objectives: We evaluated the correlation between the skeletal facial advancement through Le Fort III osteotomy and the modification of polysomnographic values in syndromic patients with sleep respiratory disorders affected by craniofacial synostosis. Methods: We selected a sample of 17 patients affected bymild to severe OSAS. All patients underwent a Le Fort III osteotomy. In five cases we used the “classical technique” and in 12 cases distraction osteogenesis. Sleep respiratory disorders were evaluated by pre-op and post-op polysomnography. All patients had pre-op and post-op cephalometric records. Results: The average midface advancement was 16mm (10–28mm)measured at A point. The average pre-op polysomnographic records were: ODI 28.6 (8–75), AHI 23.2 (8–50). The average post-op polysomnographic records were: ODI 3.88 (0.3–7), AHI 4.14 (0.2–3). In one tracheostomized patient we removed the tracheostomy and one patient with CPAP stopped the treatment. Conclusions: The respiratory disorders in syndromic patients with midfacial hypoplasia have different clinical manifestation: from snoring to acute respiratory distress requiring tracheostomy. Our study demonstrates an improvement of polysomnographic values in all patients, with a shift from severe to mild OSAS or even a complete resolution.