Photometric Evaluation of Adult Patients With Bilateral Cleft Lip and Palate Treated With Nasoalveolar Molding and Primary Columella Lengthening.

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.

Costochondral graft in growing patients with hemifacial microsomia case series: Long-term results compared with non-treated patients.

OBJECTIVE(S): The aim of this study was to evaluate the long-term effectiveness of costochondral graft in hemifacial microsomia (HFM) type III patients. SETTINGS AND SAMPLE POPULATION: A sample of 10 patients affected by HFM type III treated during growth in the same Centre with costochondral graft (CCG patients group) is compared with a control group (CG) sample of 10 non-treated patients affected by the same malformation in order to understand whether surgery during growth provides advantages in terms of bony and facial symmetry after an 8-year follow-up. MATERIALS AND METHODS: The growth of the CCG was assessed on panoramic X-rays. To assess facial symmetry, a photometric evaluation on the frontal view was carried out. RESULTS: In CCG patients group the graft grown in mean less than the healthy ramus, a good facial symmetry was achieved after surgery, but was lost in the majority of the cases at the most recent control. In CG, occlusal canting slightly increased and facial asymmetry was relatively stable during the years. CONCLUSION: In patients with a congenital deformity, restoring the height of the ramus leads to an immediate restitution of facial symmetry, but in the long term, there is a return to the asymmetrical pattern. In CG, the asymmetry is stable during years with no increase of the facial deformity.

Evaluation of a Sample of Patients With Unilateral Cleft Lip and Palate Treated With a Two-Stage Protocol.

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.

Photometric Evaluation in Adolescence of Patients With Bilateral Cleft Lip and Palate Treated With Nasoalveolar Molding and Primary Columella Lengthening.

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.

Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases.

Long-Term Computed Tomographic Evaluation of Alveolar Bone Formation in Patients with Unilateral Cleft Lip and Palate after Early Secondary Gingivoalveoloplasty.

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 (<25 percent) was found in three patients (5.2 percent), and only one of them (1.7 percent) presented no bone bridging. A statistically significant association was detected between the degree of alveolar ossification, the type of nasal floor ossification, and volume ratio. CONCLUSIONS: Early secondary gingivoalveoloplasty seemed to allow an adequate ossification of both the alveolar and nasal region. Three-dimensional evaluation of the alveolar cleft ossification provided further information on alveolar bridging and allowed evaluation of the bone availability for implant placement. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

UNLABELLED: 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.

Long-Term Follow-Up of UCLP Patients: Surgical and Orthodontic Burden of Care During Growth and Final Orthognathic Surgery Need.

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.

Long-term follow-up of large maxillary advancements with distraction osteogenesis in growing and non-growing cleft lip and palate patients.

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.

Contemporary management of vascular malformations.

PURPOSE: To review the literature on vascular malformations and to clarify their diagnosis, clinical presentation, and treatment options. MATERIAL AND METHODS: The authors reviewed the current literature on vascular malformations looking for more innovative and credited diagnostic criteria and treatment protocols. RESULTS: The review is divided in 4 sections (capillary, venous, arteriovenous, and lymphatic malformations). In each section, the clinical presentation, radiologic features, and treatment options for each kind of vascular malformation are described. The experience and results of the authors also are presented. CONCLUSIONS: Vascular malformations are a heterogeneous group of diseases. Each type of malformation has unique features that make it largely different from the others. Only a clear and correct diagnosis can lead to optimal results.

The role of maxillary osteotomy in the treatment of arhinia.

PURPOSE: Arhinia is a very rare malformation, and only 41 cases are described in the literature. Given its rarity, there is no standardized surgical protocol. This article describes our preferred treatment, which underlines the importance of maxillary osteotomy for obtaining satisfactory results. METHODS: We observed 3 girls with arhinia, 2 of whom were treated by a 2-step surgical protocol. During the first phase, the patients underwent maxillary osteotomy with the creation of a new epithelium-lined nasal cavity. A skin expander was also placed in the forehead. During the second step, an external nose was created in both patients from the expanded forehead flap with local perinasal flaps and costochondral grafts. RESULTS: Both reconstructions were viable and esthetically acceptable. No internal nose restenosis was observed. CONCLUSIONS: On the basis of our experience, maxillary osteotomy should be considered part of an integrated approach in treating arhinia.

Long-term follow-up of syndromic craniosynostosis after Le Fort III halo distraction: a cephalometric and CT evaluation.

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.

Comparison of mandibular vertical growth in hemifacial microsomia patients treated with early distraction or not treated: follow up till the completion of growth.

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.

The role of negative maternal affective states and infant temperament in early interactions between infants with cleft lip and their mothers.

OBJECTIVES: The study examined the early interaction between mothers and their infants with cleft lip, assessing the role of maternal affective state and expressiveness and differences in infant temperament. METHODS: Mother-infant interactions were assessed in 25 2-month-old infants with cleft lip and 25 age-matched healthy infants. Self-report and behavioral observations were used to assess maternal depressive symptoms and expressions. Mothers rated infant temperament. RESULTS: Infants with cleft lip were less engaged and their mothers showed more difficulty in interaction than control group dyads. Mothers of infants with cleft lip displayed more negative affectivity, but did not report more self-rated depressive symptoms than control group mothers. No group differences were found in infant temperament. CONCLUSIONS: In order to support the mother's experience and facilitate her ongoing parental role, findings highlight the importance of identifying maternal negative affectivity during early interactions, even when they seem have little awareness of their depressive symptoms.

Masseteric-facial nerve anastomosis for early facial reanimation.

OBJECTIVE: Early repair of facial nerve paralysis when cortical neural input cannot be provided by the facial nerve nucleus, is generally accomplished anastomozing the extracranial stump of the facial nerve to a motor donor nerve. That is generally the hypoglossus, which carries a variable degree of morbidity. The present work aims to demonstrate the effectiveness of the masseteric nerve as donor for early facial reanimation, with the advantage that harvesting is associated with negligible morbidity. METHODS: Between October 2007 and August 2009, 7 patients (2 males, 5 women) with unilateral facial paralysis underwent a masseter-facial nerves anastomosis with an interpositional nerve graft of the great auricular nerve. The interval between the onset of paralysis and surgery ranged from 8 to 48 months (mean 19.2 months). All patients included in the study had signs of facial mimetic muscle fibrillations on electromyography. The degree of preoperative facial nerve dysfunction was grade VI following the House-Brackmann scale for all patients. RESULTS: At the time of the study, all the patients with a minimum follow-up time of 12 months after the onset of mimetic function had recovered facial animation. Facial muscles showed signs of recovery within 2-9 months, mean 4.8 months, with the restoration of facial symmetry at rest. Facial movements appeared while the patients activated their chewing musculature. Morbidity related to this intervention is only the loss of sensitivity of earlobe and preauricular region. CONCLUSION: The present technique seems to be a valid alternative to classical hypoglossal-facial nerve anastomosis because of similar facial nerve recovery and lower morbidity.

Factors that affect variability in impairment of maxillary growth in patients with cleft lip and palate treated using the same surgical protocol.

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.

True hemifacial microsomia and hemimandibular hypoplasia with condylar-coronoid collapse: diagnostic and prognostic differences.

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.

Long-term outcome of dental implants placed in revascularized fibula free flaps used for the reconstruction of maxillo-mandibular defects due to extreme atrophy.

PURPOSE: the objectives of this study were to evaluate (a) the clinical outcome of revascularized fibula flaps used for the reconstruction of extremely atrophic jaws and (b) the survival rates of dental implants placed in the reconstructed areas. MATERIALS AND METHODS: between 1999 and 2004, 12 patients presenting with extreme atrophy of the edentulous jaws were reconstructed with fibula free flaps. Five to 12 months after the reconstructive procedure, 75 titanium dental implants were placed in the reconstructed areas, while prosthetic rehabilitation was started 4-6 months afterward. The mean follow-up of patients after the start of prosthetic loading was 77 months (range: 48-116). RESULTS: an uneventful healing of the bone transplants occurred in all patients. One out of the 75 dental implants placed was not loaded due to prosthetic reasons. No dental implants failed to integrate before prosthetic loading, while three were removed during the follow-up period. Despite the high survival rate of dental implants (95.8%), a relevant number of them presented relevant peri-implant bone-level loss, ranging from 1 to 7 mm for maxillary dental implants and from 1 to 4.5 mm for mandibular dental implants. CONCLUSION: although no failures of the bone transplants occurred and a high long-term survival rate of dental implants were observed, this study showed that fibula free flaps do not guarantee dimensional stability of peri-implant bone, despite the immediate blood supply delivered by the vascular pedicle. The peri-implant bone resorption was higher when compared with the one related to dental implants placed in native bone.

The importance of a differential diagnosis between true hemifacial microsomia and pseudo-hemifacial microsomia in the post-surgical long-term prognosis.

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.