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Sturge-Weber syndrome (SWS) is characterized by capillary malformation, glaucoma, leptomeningeal vascular anomalies, and variable facial overgrowth. The purpose of this study was to document the prevalence and morbidity of facial hypertrophy in 2 cohorts: group 1, surveyed patients registered in the SWS Foundation, and group 2, patients treated at our Vascular Anomalies Center. Predictive variables included age, sex, region of capillary stain, and ocular or cerebral involvement. Outcome variables were soft-tissue and bony overgrowth, as well as the type of operative correction. In group 1, the response rate to our questionnaire was 29.3% (108/368). Facial overgrowth was documented in 60.0% of patients. Soft-tissue hypertrophy was present in 55.0%; the lip (81.0%) was the most commonly affected site. Skeletal hypertrophy was reported in 22% of patients; the maxilla (83.0%) was the most frequently overgrown bone. Overall, 23.0% of patients (36.5% with overgrowth) had an operation: 34.0% of patients with soft tissue hypertrophy and 9.0% with skeletal enlargement. In group 2, 47 patients with SWS were treated at our center: 83% had facial overgrowth, either a localized cutaneous lesion (18.0%), soft-tissue enlargement (70.0%), or bony hypertrophy (45.0%). As in group 1, the lip (75.0%) and maxilla (94.0%) were the most commonly enlarged structures. Operations were necessary for localized cutaneous lesions (86.0%), soft-tissue hypertrophy (53.0%), or skeletal overgrowth (11.0%). In conclusion, facial hypertrophy is a major component of SWS; these patients should be counseled about the risk of overgrowth and about the types of possible operative correction.

Objective: Diminished maxillary growth is a consequence of labiopalatal repair, and many patients with cleft lip and palate require Le Fort I advancement. The goal of this study was to determine the frequency of maxillary hypoplasia as measured by need for Le Fort I. Subjects: Retrospective cohort study of males born before 1987 and females before 1989. Records of 173 patients with cleft lip and palate and 34 with cleft palate were reviewed. Methods: Documented age, gender, cleft type, and need for Le Fort I. Pearson chi-square and Fischer's exact analyses were performed to evaluate the frequency of Le Fort I. Results: Of 217 patients with cleft lip and palate or cleft palate, 40 were syndromic; of the remaining 177 patients, 69 had cleft lip, 78 had cleft lip and palate, and 30 had cleft palate. Thirty-seven of 177 patients (20.9%) required Le Fort I, subcategorized by cleft type: 0/69 for cleft lip, 37/78 for cleft lip and palate, and 0/35 for cleft palate (p < .0001). Of the 37/78 (47.4%) cleft lip and palate patients, the frequency of Le Fort I correlated with severity: 5/22 unilateral incomplete cleft lip and palate; 16/33 unilateral complete cleft lip and palate; 1/2 bilateral incomplete cleft lip and palate; 2/4 bilateral asymmetric complete/incomplete cleft lip and palate; 13/17 bilateral complete cleft lip and palate (p < .05). Conclusion: Overall frequency of Le Fort I was 20.9% in patients with cleft lip and palate and cleft palate. Of those with cleft lip and palate, 47.7% required maxillary advancement, but none with isolated cleft lip or cleft palate required correction. Frequency of Le Fort I osteotomy correlated with the spectrum of severity of labiopalatal clefting.

Calcineurin inhibitors (cyclosporine and tacrolimus) have been used as the mainstay immunosuppressive therapy for solid organ and hematopoietic cell transplantations (HCT) to prevent allograft rejection and for prophylaxis and treatment of the chronic graft-versus-host disease. Adverse effects of these drugs include nephrotoxicity, hepatotoxicity, neurotoxicity, hypertension and gingival hyperplasia. Association of oral non-gingival soft tissue hyperplasia with calcineurin inhibitor therapy has only recently been recognized and is thought to occur infrequently. We present four cases of oral non-gingival inflammatory fibro-vascular hyperplasias attributed to the use of calcineurin inhibitors following solid organ transplantation and HCT. These lesions interfere with function and must be differentiated from other oral lesions, and therefore should be surgically excised.

Purpose Idiopathic bone cavities (IBCs) are benign osseous pseudocysts of unclear etiology. Their clinical course and response to treatment are poorly understood. The purpose of this study was to present a case series of patients with IBC with long-term follow-up. Patients and Methods A retrospective case series of patients with IBC of the jaw was implemented. Medical records were reviewed for data on presentation and imaging. All patients underwent surgical exploration to confirm the diagnosis. Follow-up radiographs were evaluated for resolution or persistence after the procedure. Descriptive data were summarized. Results The sample included 45 patients (60% girls) with 47 IBCs who presented at a mean age of 13.5 ± 0.35 years (range, 9 to 17 yr). All lesions were asymptomatic and discovered as incidental findings; the average size was 2.0 cm (range, 0.8 to 7 cm). Most (n = 44) were solitary lesions of the mandible presenting within the body (n = 27), symphysis (n = 15), or ramus (n = 2). One patient had synchronous bilateral mandibular and maxillary IBCs. Common radiographic features included scalloping without root resorption or displacement and cortical thinning without expansion or perforation. Intraoperative findings showed an empty bone cavity often filled with blood-tinged serous fluid or blood. The histopathology of scrapings from the bony wall showed benign mixed fibrous tissue and no epithelial lining. Average radiographic follow-up was 32.7 ± 6.7 months (range, 0 to 9 yr). After exploration and curettage, 43% of patients had complete bone fill within 2 to 5 years. The other 57% had no change in lesion size at an average of 2.25 years (range, 2 to 9 yr). No patients developed symptoms, had enlargement of the lesion, or had pathologic fracture. Conclusion Many IBCs persist for years despite exploration and curettage. Nonetheless, unresolved lesions did not enlarge or cause harm. A single procedure to confirm the diagnosis is sufficient for management.

Objective To analyze indications and outcomes for primary premaxillary setback. Design Retrospective. Setting Academic children's hospital. Patients All children with bilateral complete cleft lip age ≤2 years of age who had premaxillary setback by one surgeon (1992 to 2011). Results Twenty-five patients with bilateral complete cleft lip underwent primary premaxillary setback at an average age of 9 months; the mean follow-up was 47 months. There were three indications: failed dentofacial orthopedics (n = 9), delayed referral precluding manipulation (n = 10), and intact secondary alate (n = 6). Of 19 patients with bilateral complete cleft lip/palate, primary setback was combined with nasolabial repair (n = 11), adhesions (n = 2), or palatoplasty (n = 6). Patients who had nasolabial closure and setback were significantly younger than those who had combined palatal closure and setback (6.5 versus 16 months, P = .01). No patient exhibited postoperative premaxillary instability. Serial anthropometry showed similar growth of nasolabial features after both primary setback (n = 9) and active dentofacial orthopedics (n = 35). Conclusions Primary premaxillary ostectomy and setback permits synchronous bilateral nasolabial-alveolar closure or alveolar-palatal repair in a child with intact secondary palate. This procedure should be considered whenever dentofacial orthopedics cannot be accomplished. Speech is paramount in an older child; setback with palatal closure is scheduled before nasolabial repair. Disturbance of midfacial growth is likely following primary premaxillary ostectomy and setback in patients with bilateral complete cleft lip/palate; however, most already need maxillary advancement. Furthermore, premaxillary setback permits proper primary nasolabial design and construction in appreciation of expected changes with growth.

Objective Tongue-lip adhesion (TLA) is commonly used to relieve obstructive sleep apnea (OSA) in infants with Robin sequence (RS), but few studies have evaluated its efficacy with objective measures. The purpose of this study was to measure TLA outcomes using polysomnography. Our hypothesis was that TLA relieves OSA in most infants. Methods This is a retrospective study of infants with RS who underwent TLA from 2011 to 2014 and had at least a postoperative polysomnogram. Predictor variables included demographic and birth characteristics, surgeon, syndromic diagnosis, GILLS score, preoperative OSA severity, and clinical course. A successful outcome was defined as minimal OSA (apneahypopnea index score < 5) on postoperative polysomnogram and no need for additional airway intervention. Descriptive, bivariate, and regression statistics were computed, and statistical significance was set at P < .05. Results Eighteen subjects who had TLA at a mean age of 28 ± 4.7 days were included. Thirteen (72.2%) had a confirmed or suspected syndrome, and the mean GILLS score was 3 ± 0.3. All parameters trended toward improvement from the preoperative to postoperative polysomnograms, and improvement in OSA severity, oxygen saturation nadir, and arousals per hour was statistically significant ( P < .02). This effect was significant across categories of surgeon, syndrome, and GILLS score. Nine subjects (50%) met the criteria for a successful outcome. Bivariate and regression analyses did not demonstrate a significant relationship between success and any predictor variable. Conclusions TLA improved airway obstruction in all infants with RS but resolved OSA in only nine patients, and success was unpredictable.

Purpose Patients with repaired cleft lip and cleft palate (CL/P) can develop velopharyngeal insufficiency (VPI) after Le Fort I maxillary advancement. The aim of this study was to evaluate speech outcomes in patients who required a pharyngeal flap after Le Fort I maxillary advancement. Patients and Methods This retrospective cohort study included all patients with repaired CL/P who underwent a Le Fort I osteotomy and subsequently required a pharyngeal flap to correct VPI. Patients were included if they had outcome measurements documented at 3 time points: 1) before Le Fort I (baseline), 2) after Le Fort I, and 3) after pharyngeal flap. Outcome measurements, including speech characteristics (resonance, nasal emission, and intraoral pressure) and velopharyngeal function, were evaluated on perceptual assessment by a speech pathologist specializing in cleft care. Velopharyngeal closure was assessed with multi-view videofluoroscopy or nasopharyngoscopy. Patient characteristics and descriptive statistics were summarized and continuous data were expressed as mean ± standard deviation. Repeated-measures analysis of variance and paired samples t test were used to measure changes in speech outcome variables between time points. All P values were 2-tailed and considered significant for values less than .05. Results There were 23 patients for analysis (13 girls [56.5%] and 10 boys [43.5%]). Two patients (9%) had cleft palate only, 9 (39%) had unilateral cleft lip and palate (CLP), and 12 (52%) had bilateral CLP. Follow-up evaluations performed on average 12 months postoperatively showed statistically meaningful improvement for all variables, including decreased hypernasality, reduced nasal emission, and increased intraoral pressure for consonant production. Patients with repaired CL/P who had VPI after Le Fort I maxillary advancement showed significant improvement in all outcome measurements after pharyngeal flap (P Conclusions The superiorly based pharyngeal flap is highly successful in correcting VPI after Le Fort I maxillary advancement in patients with repaired CL/P.

Vitamin D is crucial for mineral homeostasis and contributes to bone metabolism by inducing osteoblast differentiation of marrow stromal cells (MSCs). We recently reported that MSCs from adults demonstrate 1α-hydroxylase activity in vitro and express vitamin D-related genes; this raises a possible autocrine/paracrine role for D activation in pre-osteoblasts. In this studies, we tested the hypotheses that pediatric MSCs have 1α-hydroxylase activity and express vitamin D-related genes. With IRB approval, we isolated MSCs from discarded excess iliac marrow graft from 6 male and 6 female subjects (age 8-12 years) undergoing alveolar cleft repair. 1α-hydroxylation of substrate 25(OH)D3 was measured by ELISA for 1α,25(OH)2D. RT-PCR was used for gene expression. Pediatric MSCs showed a range of 1α-hydroxylase activity in vitro. There was constitutive expression of vitamin D receptor (VDR), megalin, d-hydroxylases (CYP27B1, CYP27A1, CYP2R1, and CYP24A1), and estrogen receptor (ER). There was 2.6-fold greater expression of CYP27B1 and 3.5-fold greater expression of CYP24A1 in MSCs from boys compared with girls. There was 2.4-fold greater expression of ERα and 3.2-fold greater expression of megalin in MSCs from boys. In preliminary studies, treatment of female pediatric MSCs with 10nM 17β-estradiol resulted in upregulation of CYP27B1 and CYP24A1, as well as VDR, megalin, ERα, and ERβ. Treatment with 25(OH)D3 upregulated CYP27B1, VDR, and ERα. Expression and regulation of vitamin D related genes in pediatric hMSCs reinforces an autocrine/paracrine role for vitamin D in hMSCs. Finding striking gender differences in MSCs from children was not seen with MSCs from adults and adds insight to the metabolic environment of bone and presents a research approach for investigating and optimizing pediatric bone health.

Purpose Midfacial hypoplasia is a characteristic feature of the syndromic craniosynostoses and predisposes these patients to developing obstructive sleep apnea (OSA). The purpose of this study was to identify anatomic factors associated with airway obstruction in patients with syndromic craniosynostoses. Materials and Methods This was a retrospective cohort study. The authors enrolled a study sample composed of patients with syndromic craniosynostoses. The predictor variables were age, gender, body mass index (BMI), syndromic diagnosis, and parameters of upper airway length and size measured on lateral cephalograms. To control for age, upper airway length was corrected for differences in patient height. The outcome variable was OSA status (present or absent). Descriptive, bivariate, and regression statistics were computed. For all analyses, a P value less than or equal to .05 was considered statistically significant. Results The sample was composed of 50 patients with a mean age of 10.3 ± 0.6 years, 50% were boys, and 24 (48%) had OSA. Patients with and without OSA did not differ statistically in age, gender, BMI, or syndromic diagnosis. Those with OSA had increased upper airway length ( P = .016), decreased posterior airway space ( P = .001), and more severe midfacial retrusion ( P = .022) compared to patients without OSA. After adjusting for covariates, the odds ratio for OSA was 32.9 in patients with an upper airway longer than 45.3 mm per meter of height ( P = .018), and for every 1-mm decrease in posterior airway space, the risk of OSA increased by 30% ( P = .022). Conclusions Patients with syndromic craniosynostosis and OSA have a longer upper airway, smaller posterior airway space, and more severe midfacial retrusion than those without OSA.

Objective To examine the impact of dentofacial infant orthopedic treatment (DFIO) on facial growth in preadolescent children with unilateral complete cleft lip and palate (UCCLP) and bilateral complete cleft lip and palate (BCCLP). Methods This is a retrospective study of patients with UCCLP and BCCLP treated at a single center. The treatment group had DFIO, and the control group did not have DFIO. Regression models were used to compare outcomes between the study and control groups. Results The study sample comprised 81 patients (54 had DFIO and 27 did not have DFIO). Among those with UCCLP, those who had DFIO had a shorter maxillary length (−2.12 mm; P = .04) and shorter lower anterior facial height (−2.77 mm; P = .04) compared with controls. Among those with BCCLP, there were no significant differences between the treatment and control groups. Conclusions DFIO treatment could result in shorter maxillary length and lower anterior facial height in those with UCCLP.

Purpose Gradual midfacial advancement, applying the principle of distraction osteogenesis, reduces the restriction of the soft tissues and results in bony consolidation without need for grafting. The midface can be distracted by either pushing it forward, using semiburied devices, or pulling it forward by a rigid external device. For each method there are inherent technical problems, such as controlling the vector of movement, symmetry of advancement, and differential movement of the upper/lower face. We have used a combination of the 2 methods, called “push-pull,” in an effort to control the distraction process. The purpose of this paper is to describe our push-pull distraction technique and summarize our early experience. Materials and Methods Ten patients (5 males and 5 females) with a mean age of 11 years 2 months underwent midfacial advancement using push-pull distraction. Two orthodontists, blinded for landmark identification, traced preoperative and postoperative cephalograms and determined linear and angular measurements of midfacial position. A Student t test was used to assess differences between the cephalometric measures on the 2 radiographs. Interexaminer reliability was calculated by an intraclass correlation coefficient. Results Postdistraction cephalograms were taken a mean of 10 months (range, 3 to 20 months) after removal of the devices. Patients exhibited improvement at all levels of the midface after distraction. There was a statistically significant sagittal advancement from the infraorbital rim to dentoalveolus. The central midface was sufficiently advanced as shown by an improved convexity, nasolabial angle, and upper labial protrusion. There were no significant differences between examiners for any of the measurements in this study. Conclusions Push-pull distraction permits 1) equal movement at both the upper and lower facial levels, 2) advancement of the central midface, and 3) symmetric movement of the zygomaticomaxillary complexes. This method also provides a backup, in case one device malfunctions. In combination, the advantages of each device are additive; whereas the weaknesses are not. The push-pull technique is a practical method for midfacial distraction until a better single device is fabricated.

Two unusual cases of temporomandibular joint effusion in children are presented. The differential diagnosis, radiographic imaging, treatment, and possible etiologies are described.

BACKGROUND: External maxillary distractions present additional anesthetic concerns to the existing complexity of the patient with craniofacial disorder. The distraction hardware is rigidly fixed to the cranium and projects in the frontofacial midline, thus limiting oronasal airway access. METHODS: A review of 16 patients (10 male, 6 female) having external maxillary distraction was done. Patients with patent tracheostomies were excluded. In all cases, the same type of external distraction device was used (R.E.D., K.L.S. Martin, Jacksonville, FL, USA). Perioperative records were reviewed for medical history; operative diagnosis, presence of airway disease, tracheostomy, laryngoscopy grade, use of fiberoptic bronchoscope, procedure, operative time, use of intraoperative steroid, day of postoperative extubation, and need for reintubation were documented. RESULTS: The study group was subdivided into two diagnostic categories: those with syndromic craniosynostosis (n = 9) and those with cleft lip/palate (CLP) (n = 7). Patients in the craniosynostotic group had grade 1 laryngoscopy views, with the exception of a single patient with Crouzon syndrome who had a grade 3 view. This was the only patient who required fiberoptic intubation. One patient with Apert syndrome required reintubation (48 hours after surgery); successful extubation was done 96 hours later. In the cleft lip/palate group, all patients had grade 1 laryngoscopic views, except one with a grade 3 view; no patient required fiberoptic intubation. Six of the seven patients were extubated immediately after surgery, with one patient extubated the next day. No patient experienced failure of extubation. CONCLUSIONS: External maxillary distraction minimally affects anesthetic management provided certain safeguards are observed. The vertical bar can be left attached to the cranial portion of the distractor, or it can be removed for extubation or reintubation. Removal of the vertical bar allows unobstructed direct laryngoscopy. This emphasizes the importance for the emergent availability of the appropriate screwdrivers and wire cutters to remove the vertical bar and trained personnel to perform the removal.

Rarely does the appearance of a child with a repaired bilateral cleft lip compare favorably with that of a child with a repaired unilateral cleft lip. However, there has been a major change in operative strategy during the past decade, and as a result, the typical bilateral cleft nasolabial stigmata are no longer so obvious. The senior author restates the principles for correction of bilateral cleft lip and nasal deformity, and underscores the essential role of preoperative premaxillary positioning. He reviews his method of single-stage closure of the cleft primary palate, including three-dimensional adjustments based on predicted four-dimensional changes. Operative modifications are described for variations of bilateral cleft lip. The authors emphasize the surgeon's obligation for periodic assessment. In a consecutive series of 50 patients with repaired bilateral complete cleft lip/palate, the revision-rate was 33% as compared with 12.5% if the secondary palate is intact. No revisions were necessary for philtral size or columellar length. The authors propose that nasolabial appearance and speech are the priorities in habilitation of the child with bilateral cleft lip/palate rather than the traditional emphasis on maxillary growth.

Because of its superior depiction of bone detail, CT is a useful tool in the characterization of CF deformities and presurgical planning. Modern CT scanners and workstations provide 2D techniques such as multiplanar reformats and 3D techniques, such as MIP and volume renderings, which may be used effectively in the diagnosis and management of patients with CF malformations.

A small subset of infants with complete cleft lip/palate look different because they have nasolabiomaxillary hypoplasia and orbital hypotelorism. The authors' purpose was to define the clinical and radiographic features of these patients and to comment on operative management, classification, and terminology. The authors reviewed 695 patients with all forms of incomplete and complete cleft lip/palate and identified 15 patients with nasolabiomaxillary hypoplasia and orbital hypotelorism. All 15 patients had complete labial clefting (5 percent of 320 patients with complete cleft lip/palate), equally divided between bilateral and unilateral forms. The female-to-male ratio was 2:1. Of the seven infants with unilateral complete cleft lip/palate, one had an intact secondary palate and all had a hypoplastic septum, small alar cartilages, narrow basilar columella, underdeveloped contralateral philtral ridge, ill-defined Cupid's bow, thin vermilion-mucosa on both sides of the cleft, and a diminutive premaxilla. Of the eight infants with bilateral complete cleft lip, one had an intact secondary palate. The features were the same as in patients with unilateral cleft, but with a more severely hypoplastic nasal tip, conical columella, tiny prolabium, underdeveloped lateral labial elements, and small/mobile premaxilla. Central midfacial hypoplasia and hypotelorism did not change during childhood and adolescence. Intermedial canthal measurements remained 1.5 SD below normal age-matched controls. Skeletal analysis (mean age, 10 years; range, 4 months to 19 years) documented maxillary retrusion (mean sagittal maxillomandibular discrepancy, 13.7 mm; range, 3 to 17 mm), absent anterior nasal spine, and a class III relationship. The mean sella nasion A point (S-N-A) angle of 74 degrees (range, 65 to 79 degrees) and sella nasion B point (S-N-B) angle of 81 degrees (range, 71 to 90 degrees) were significantly different from age-matched norms ( = 0.0007 and = 0.004, respectively). The ipsilateral central and lateral incisors were absent in all children with unilateral cleft, whereas a single-toothed premaxilla was typically found in the bilateral patients. Several modifications were necessary during primary nasolabial repair because of the diminutive bony and soft-tissue elements. All adolescent patients had Le Fort I maxillary advancement and construction of an adult nasal framework with costochondral or cranial graft. Other often-used procedures were bony augmentation of the anterior maxilla; cartilage grafts to the nasal tip and columella; and dermal grafting to the median tubercle, philtral ridge, and basal columella. Infants with complete unilateral or bilateral cleft lip/palate in association with nasolabiomaxillary hypoplasia and orbital hypotelorism do not belong on the holoprosencephalic spectrum because they have normal head circumference, stature, and intelligence, nor should they be referred to as having Binder anomaly. The authors propose the term cleft lip/palate for these children. Early recognition of this entity is important for counseling parents and because alterations in standard operative methods and orthodontic protocols are necessary.

Distraction osteogenesis has been advocated for treatment of the mandibular deformity in patients with hemifacial microsomia (HFM). During the active phase, the force of distraction pushes the distal segment of the mandible down, creating a distraction gap. Because of the abnormal temporomandibular joint anatomy in HFM patients, the proximal segment may not seat in the glenoid fossa and thus may be displaced with distraction. The purpose of this study was to determine the vector(s) of proximal segment movement during mandibular distraction using a semiburied device. Two investigators traced the immediate pre-and postdistraction panoramic radiographs of 12 HFM patients (mean age at operation = 8.4 years, mean distraction = 28 mm) who had mandibular distraction with a semiburied device. Radiographic analysis, based on a vertical maxillary reference line, measured change in condylar position with angular and linear measurements. Inter-rater reliability for the tracing and analysis was shown with a correlation coefficient between 0.89 and 0.99 for all measures. Based on the angular and linear measurements, 10 of the 12 patients had superior movement of the proximal segment with distraction. Sagittal movement of the proximal segment could not be judged adequately. This study was based on measurements made on panoramic radiographs. Direct measurements could not be made; thus, it was not possible to estimate proximal segment movement in millimeters or as a percentage of total movement. Further studies to document proximal segment movement using computed tomography scans may provide more quantitative data.

Rapid advancements in the field of stem cell biology have led to many current efforts to exploit stem cells as therapeutic agents in regenerative medicine. However, current ex vivo cell manipulations common to most regenerative approaches create a variety of technical and regulatory hurdles to their clinical translation, and even simpler approaches that use exogenous factors to differentiate tissue-resident stem cells carry significant off-target side effects. We show that non-ionizing, low-power laser (LPL) treatment can instead be used as a minimally invasive tool to activate an endogenous latent growth factor complex, transforming growth factor-β1 (TGF-β1), that subsequently differentiates host stem cells to promote tissue regeneration. LPL treatment induced reactive oxygen species (ROS) in a dose-dependent manner, which, in turn, activated latent TGF-β1 (LTGF-β1) via a specific methionine residue (at position 253 on LAP). Laser-activated TGF-β1 was capable of differentiating human dental stem cells in vitro. Further, an in vivo pulp capping model in rat teeth demonstrated significant increase in dentin regeneration after LPL treatment. These in vivo effects were abrogated in TGF-β receptor II (TGF-βRII) conditional knockout (DSPP(Cre)TGF-βRII(fl/fl)) mice or when wild-type mice were given a TGF-βRI inhibitor. These findings indicate a pivotal role for TGF-β in mediating LPL-induced dental tissue regeneration. More broadly, this work outlines a mechanistic basis for harnessing resident stem cells with a light-activated endogenous cue for clinical regenerative applications.

Objective The purpose of this study was twofold: (1) to describe the patterns of missing teeth in patients with hemifacial microsomia (HFM) and (2) to compare the prevalence of missing teeth in subjects with HFM with a group of unaffected subjects. Study Design A descriptive study was conducted comparing HFM subjects with a group of patients selected from an orthodontic clinic. Methods The prevalence of missing teeth was assessed by evaluation of panoramic radiographs. At the time of the study, records of 125 patients with HFM were available from the Craniofacial Center at Boston's Children's Hospital. Seventy-six met inclusion criteria for radiographic analysis of hypodontia. Fifty-two patients met inclusion criteria into the comparison study in which the prevalence of hypodontia was compared with a group of patients from the Department of Orthodontics at Harvard School of Dental Medicine. A Fisher's exact test was conducted to test the hypothesis that HFM patients have a greater prevalence of missing teeth than individuals without the anomaly. A chi-square test for trend was conducted to determine whether hypodontia was more prevalent with increasing severity of the mandibular deformity in HFM. Results Hypodontia was more common among HFM patients (26.9%) versus the comparison group in which no missing teeth were recorded (p < .0001). Additionally, the degree of hypodontia was correlated with the grade of mandibular hypoplasia (p = .024). Conclusion Hypodontia was found to be more prevalent in patients with HFM than in comparison subjects, possibly indicating an etiologic link between the two conditions.

Hemifacial microsomia is a common craniofacial anomaly, variably affecting structures derived from the first and second pharyngeal arches. Correction of the skeletal deformity in children has been advocated to improve growth potential and reduce secondary deformity. However, contrary reports have suggested that facial asymmetry in hemifacial microsomia does not increase with growth; therefore, skeletal correction can be postponed, even until adolescence. The purpose of this study was to test the hypothesis that facial asymmetry in hemifacial microsomia is progressive. This is a retrospective evaluation of 67 patients with untreated hemifacial microsomia. The patients were categorized as: group I (mandible type I, IIa), n = 38, and group II (mandible type IIb, III), n = 29. Pretreatment posterior-anterior cephalometric radiographs were used to analyze asymmetry by measuring the angle between the true horizontal and the following planes: piriform rim, maxillary occlusal plane, and intergonial angle. Angular measurements were averaged for patients in the deciduous (6 years), mixed (or =613 years), and permanent dentition (or =13 years). In group I, angle piriform rim, maxillary occlusal plane, and intergonial angle increased from 7.0, 4.3, and 4.4 to 8.4, 6.6, and 6.1 degrees, respectively [mean age, 4.1 (deciduous) to 8.6 (mixed) to 21.0 (permanent) years]. In group II, angle piriform rim, maxillary occlusal plane, and intergonial angle increased from 9.5, 6.2, and 5.3 to 11.7, 7.6, and 8.0 degrees, respectively [mean age, 3.4 (deciduous) to 8.0 (mixed) years]. These data demonstrate that hemifacial microsomia is progressive and underscores the importance of early surgical correction of mandibular asymmetry in this disorder.

This study compared facial growth in three groups of patients with bilateral complete cleft lip/palate: those who had (1) no premaxillary osteotomy, (2) premaxillary osteotomy before age 8 years, and (3) premaxillary osteotomy after age 8 years. Of 24 children with bilateral complete cleft lip/palate, 7 had early premaxillary osteotomy (mean age, 6.1; range, 3.7 to 7.6 years), 10 had late osteotomy (mean age, 11.2; range, 8.3 to 20.7 years), and 7 did not require premaxillary repositioning and served as controls (mean age, 12.4; range, 6.4 to 17.8 years). Presurgical and postsurgical lateral cephalograms were digitized using the Dentofacial Planner software; most current lateral cephalograms comprised the control group. Forty-one bony and 25 soft-tissue landmarks were digitized, and 8 angles were measured: SNA, (sella-nasion-A point), SNPg (sella-nasion-pogonion), ANB (A point-nasion-B point), NAPg (nasion-A point-pogonion), ST convexity (glabella-subnasale-soft-tissue pogonion), Sn-G vertical (line perpendicular to the horizontal plane dropped from glabella and distance measured from subnasale to this vertical), Cm-Sn-Ls (columella-subnasale-abial superioris), and Sn-Gn-C (subnasale-soft-tissue gnathion-chin point). Statistical difference in mean preoperative and postoperative values were measured with analysis of variance. Tests of significance were adjusted for multiple comparisons using the Bonferroni correction. Mean age at follow-up for early, late, and control groups was 11.8, 14.0, and 12.4 years, respectively. Mean follow-up for early and late groups was 5.7 and 2.8 years. There was a significant preoperative difference among the three groups for mean SNA (p < 0.01), ANB (p < 0.01), and NAPg (p < 0.01). Bonferroni analyses revealed that the early group had significantly greater SNA, ANB, and NAPg angles than the late (p < 0.01) and control groups (p < 0.05). There was a significant postoperative difference among groups for ANB (p < 0.05); Bonferroni analyses also showed that the control group had a significantly greater ANB than the late group (p < 0.05). The t test for equity of means established postoperative change for SNA (p < 0.01), ANB (p< 0.01), NAPg (p < 0.01), and ST convexity (p < 0.01) for the early group was significantly greater than for the late group. Children who required early premaxillary positioning had more significant preoperative deformity; however, this group's postoperative profile was not, on average, significantly different from either the late or control groups. Our findings that the early group had more significant change with premaxillary osteotomy than the late group suggest that premaxillary positioning can be done before completion of facial growth without compromise.

As the new millennium approaches, it seems appropriate to look back at where we have been and where we are going with the care of patients with facial deformities. None of us can deny that although changes have been made, many current treatment modalities are no more than modifications of old techniques. We are, however, poised to make dramatic improvements in the management of facial abnormalities as we enter the new century and millennium. Biotechnology, genetic manipulation, and new surgical technology will become pervasive, and perhaps we will move from “modification” of the old into a completely new era of therapeutic approaches to the care of dentofacial deformities. “Opportunities multiply as they are seized” (from Sun Tzu), and the time of opportunity is approaching. This review will attempt to look at the state of the art in cleft care and in oral and maxillofacial surgery: where we have been and where we are going. It will be clear that there is overlap between specialties and that these overlaps will become greater as new regimens in the care of facial deformities come to the forefront.

Distraction osteogenesis is a technique utilizing natural healing mechanisms to generate new bone; it is commonly used to lengthen the hypoplastic mandible. Distraction of the maxilla and mandible as a unit is an obvious extension of the technique. We describe the application of a semiburied distractor to simultaneously lengthen the mandible and maxilla and level a canted occlusal plane in three cases. The indications for bimaxillary distraction are reviewed, including its advantages, disadvantages and limitations.

Giant cell lesions (GCLs) are benign primary bone tumors of mesenchymal origin. They consist of a stroma with fibroblast-like spindle cells, multinucleated giant cells, and a dense vascular network composed of endothelial cell-lined capillaries. The biology, epidemiology, presentation, diagnosis and evaluation, treatment, and outcomes of GCL are presented in this chapter. This chapter can be used as a guide for clinicians treating patients who present with GCLs.

Purpose The clinical follow-up visit after third molar extraction has been cited as time consuming and of little benefit to patients. Although telephone follow-up has the potential to add value to the surgical management of third molars, sparse information exists on the financial context of this alternative. The purpose of this study was to show the change in value of third molar extraction with telephone follow-up through 1) measurement of the postoperative complication rate and 2) costs of telephone versus clinical follow-up. Materials and Methods Bivariate comparisons were computed to assess for differences in follow-up type. Cost was calculated from a provider's perspective using micro-costing analysis that quantified cost differences between postoperative telephone and clinical follow-ups. Each visit type was divided into clinical activities and clinicians involved. Cost rates (dollars per minute) were derived for each clinician. Each clinical activity time was multiplied by clinician cost rate to derive an activity-based cost for each activity. Individual activity-based costs were summed to derive the total cost of telephone versus clinical follow-up visit. Results Patients who had a telephone follow-up had a similar postoperative complication rate (2.1%) as those who had a clinical follow-up (1.9%; P = .94). The total cost estimates were $14.26 for telephone follow-up and $63.33 for clinical follow-up. Overall, there was a cost savings of $49.07 per patient, or a 77.4% decrease in cost, when using telephone follow-up. Conclusion Telephone follow-ups added value to the operative management of patients having third molar extractions by controlling for postoperative complication rate and decreasing cost of care.

This review of 121 patients with hemifacial microsomia (HFM) revealed that 67 (55.4%) had extracraniofacial anomalies. Sixteen patients (13%) had one extracraniofacial anomaly and 51 patients (42.4%) had anomalies of multiple organ systems. There was no gender or side predominance in the cohort with the HFM “expanded spectrum.” Central nervous system (CNS), cardiac, and skeletal anomalies were “associated” (i.e., had frequencies of 10% or more). Pulmonary, gastrointestinal, and renal deformities were equivocally associated. Statistical analysis indicated significant associations between several orbital, mandibular, ear, neural, and soft tissue (OMENS) variables and extracraniofacial anomalies. Patients with extracraniofacial structural defects had higher OMENS grades for individual craniofacial anatomic categories. Furthermore, patients with expanded spectrum had higher total OMENS scores. The frequency of cardiac anomalies (26%) supports the model of neural crest involvement in the pathogenesis of both hemifacial microsomia and conotruncal defects. The majority of the heart defects in this study were of either the outflow or septal type. We propose that the OMENS classification system for craniofacial anomalies of HFM be expanded to OMENS-Plus (+) to designate the presence of associated extracraniofacial anomalies.

This is a retrospective review of the clinical course and long-term soft-tissue/skeletal problems in 17 patients with large cervicofacial lymphatic malformations. Morbidity included infection (71 percent), airway compromise requiring tracheostomy (65 percent), poor dental health with aggressive cari

The process of understanding and treating children with vascular anomalies has been hampered by confusing and occasionally incorrect terminology. The most important step when evaluating a maxillofacial vascular anomaly is to determine whether it is a tumor or a malformation. In most cases, this diagnosis can be made by history and physical examination. Selective radiographic imaging is helpful in differentiating vascular malformations or the extent of bony involvement and/or destruction. Children with vascular anomalies should be managed by an interdisciplinary team of trained providers who are committed to following, treating, and studying patients with these complex problems.

Purpose To document tumor type, biological/clinical behavior, management, and outcomes in children with primary jaw tumors. Materials and Methods A retrospective analysis of children with primary benign jaw tumors evaluated at Massachusetts General Hospital and Children's Hospital Boston from 1991 to 2009 was conducted. Patients were included if they were aged 16 years or younger and had adequate records and follow-up. Patient charts, radiographs, and pathology reports were reviewed. Demographic data; clinical, radiographic, and histopathologic findings; treatment; and outcomes were recorded. Predictor variables were tumor type, clinical behavior (nonaggressive/aggressive), and treatment. Outcome variables included presence or absence of recurrence and complications. Descriptive statistics were computed. Results There were 102 patients (44 male and 58 female patients) with a mean age of 8.3 years (range, 6 months to 16 years). Tumors were grouped by tumor type: mesenchymal (n = 96), neurogenic (n = 5), vascular (n = 5), or hematopoietic (n = 3); in addition, when appropriate, they were classified as nonaggressive (n = 54) or aggressive (n = 27). Treatment was based on the tumor's clinical/biological behavior and radiographic features and whether it was solitary or multifocal. Patients with nonaggressive tumors were treated by enucleation, debulking/contouring, or observation, and the recurrence rate was 0%. Aggressive tumors underwent en bloc resection or enucleation with systemic adjuvant therapy, and the recurrence rate was 7.1%. Mean follow-up was 2.4 years. Conclusions The results of this study indicate that primary jaw tumors in children exhibit variable biological/clinical behavior, often not predicted by descriptive histologic findings. Management of these tumors should therefore be guided by clinical/biological behavior.

The purpose of this study was to evaluate the relationship between third molars and the inferior alveolar canal using panoramic radiographs and cone beam computed tomography (CBCT) scans and to assess clinical outcomes after third molar removal retrospectively. The degree of superimposition, buccolingual position (buccal, central, and lingual) and physical relationship (separation, contact, and involved) were measured using CBCT scanning. Post-extraction complications were recorded. Based on radiographic evaluation, 45.9% of third molar roots were inside the inferior alveolar canal, 21.3% were in contact with the inferior alveolar canal, and 32.8% were separated from the canal. The frequency at which the mandibular canal was separated from the root apex was significantly higher when the canal was in the buccal position (80.0%) than in the central (20.0%) and lingual positions (0.0%). Although on panoramic radiographs all third molars were directly superimposed on the inferior alveolar canal, CBCT showed direct contact or canal involvement in 67.2% and separation of the canal from the root apex in 32.8%. Complications occurred in nine patients: eight had third molar root apices inside or in contact with the inferior alveolar canal. The prevalence of post-extraction complications correlated with the absence of cortication around the inferior alveolar canal.

BACKGROUND: Since 1995, the senior surgeon has straightened the deviated anterocaudal septum in all infants undergoing primary repair of unilateral complete cleft lip/palate. METHODS: A retrospective assessment was done on 17 patients who did not have septal correction and 17 patients who did have septal correction at the time of nasolabial repair. Operative reports were reviewed, and secondary procedures on the nose were documented.Posterior-anterior cephalograms were used to measure septal deviation from the midline, angle of septal deviation, and width of the inferior turbinate on the noncleft side. The angle subtended by the superior and inferior segments of the cartilaginous septum was measured at the point of maximal septal deviation. RESULTS: The uncorrected group had a mean maximal septal deviation from the midline of 5.8 mm compared with 4.1 mm in the corrected group (P < 0.01). The uncorrected group had a mean width of the contralateral inferior turbinate of 12.7 mm compared with 10.2 mm in the corrected group (P < 0.01). The uncorrected group had a mean subtended angle of 137.8 degrees compared with 147.9 degrees in the corrected group (P < 0.01). CONCLUSIONS: Positioning the anterior caudal septum during primary repair of unilateral complete cleft lip results in less septal deviation and a smaller contralateral turbinate as documented by posteroanterior cephalometry in adolescence.

Purpose A cancellous iliac bone graft is used to treat alveolar clefts. A few hours can exist between graft harvest and placement into the alveolar defect. The purpose of this study was to determine whether intraoperative cooling of bone optimizes viability and to evaluate cellular preservation of cooled graft over time. Patients and Methods Twelve cancellous iliac bone graft specimens were obtained prospectively from consecutive patients undergoing alveolar cleft repair. Each sample was collected during graft procurement and divided into 3 groups: group 1 (immediate analysis), group 2 (analysis after 2 hours at room temperature), and group 3 (analysis after 2 hours on ice). To generate a viability curve, iliac bone specimens were stored on ice and assayed immediately and hourly for 8 hours. Resazurin, an oxidation-reduction indicator of metabolically active cells, was used to assess cellular viability (normalized relative fluorescence units). Results Group 1 (n = 7,370) had more active cells than did group 2 (n = 4,104) or group 3 (n = 5,005; P = .03). Group 3 had greater viability than group 2 ( P = .03). Cellular preservation of the cooled graft was 100% at the immediate analysis, 98.4% ± 13.9% at 1 hour, 91.8% ± 9.8% at 2 hours, 83.1% ± 31.8% at 3 hours, 71.8% ± 27.2% at 4 hours, 71.4% ± 16.9% at 5 hours, 69.9% ± 19.0% at 6 hours, 70.0% ± 22.5% at 7 hours, and 66.7% ± 13.3% at 8 hours. Conclusions Storing iliac bone graft on ice rather than at room temperature optimizes cellular viability, with cooled bone demonstrating 22.0% more active cells after 2 hours. Cellular loss of cooled graft plateaued after 4 hours. Clinically, the iliac graft should be maintained on ice until placed into the alveolar cleft.

Background: The facial features of children with FGFR3Pro250Arg mutation (Muenke syndrome) differ from those with the other eponymous craniosynostotic disorders. We documented midfacial growth and position of the forehead after fronto-orbital advancement (FOA) in patients with the FGFR3 mutation. Methods: We retrospectively reviewed all patients who had an FGFR3Pro250Arg mutation and craniosynostosis. Only patients who had FOA in infancy or early childhood were included. The clinical records were evaluated for type of sutural fusion; midfacial hypoplasia and other clinical data, including age at operation; type of procedures and fixation (wire vs resorbable plate); frequency of frontal readvancement, forehead augmentation, midfacial advancement; and complications. Preoperative and postoperative sagittal orbital-globe relationship was measured by direct anthropometry. Outcome of FOA was graded according to the Whittaker classification as category I, no revision; category II, minor revisions, that is, foreheadplasty; category III, alternative bony work; category IV; redo of initial procedure (ie, secondary FOA). Midfacial position was determined by clinical examination and lateral cephalometry. Results: A total of 21 study patients with Muenke syndrome (8 males and 13 females) were analyzed. The types of craniosynostosis were bilateral coronal (n = 15), of which 3 also had concurrent sagittal fusion, and unilateral coronal (n = 5). Two patients had early endoscopic suturectomy, but later required FOA. Mean age at FOA was 22.9 months (range, 3Y128 months). Secondary FOA was necessary in 40% of patients (n = 8), and secondary foreheadplasty in 25% (n = 5) of patients. No frontal revisions were needed in the remaining 35% of patients (n = 7). Mean age at initial FOA was significantly younger in the group requiring repeat FOA or foreheadplasty compared with patients who did not require revision (P G 0.05). Location of synostosis, type of fixation, and bone grafting did not significantly affect the need for revision. Only 30% (n = 6) of patients developed midfacial retrusion. Conclusions: The frequency of frontal revision in patients with Muenke syndrome who had FOA in infancy and early childhood is lower than previously reported. Age at forehead advancement inversely correlated with the incidence of relapse and need for secondary frontal procedures. Midfacial retrusion is relatively uncommon in FGFR3Pro250Arg patients.

Objective: Complications of Le Fort III midfacial advancement in-clude cerebrospinal fluid (CSF) rhinorrhea, meningitis, and ocularand cerebral injury. This report reviews our experience with Le FortIII distraction, highlighting complications of dural disruption, andcorrelates occurrences with the anatomy of the cranial base and priorcranial procedures.Methods: This was a retrospective chart review of all patients whohad Le Fort III subcranial osteotomies and midfacial advancementwith distraction. Complications related to dural disruption were docu-mented. The anatomy of the anterior cranial fossa was assessed withpreoperative computed tomographic (CT) scans and compared withage- and sex-matched normal control scans, with particular attentionpaid to the anterior cranial fossa and fovea ethmoidalis (FE). On re-constructed midline sagittal images, the anterior cranial fossa wascharacterized as normal, sagging, or slanting. On reconstructed coro-nal images, immediately posterior to the plane of the lacrimal sac,each FE was characterized as normal, flattened, or depressed, relativeto the adjacent cribriform plates.Results: Thirty-one patients have had Le Fort III midfacial advance-ment with distraction at Children’s Hospital Boston since 1995. Twopatients underwent a second Le Fort III distraction. Two patients(6.5%) had postoperative CSF rhinorrhea, 2 had CSF leak at a pinsite, and 1 patient had a late complication of meningoencephalocele.Twenty-six patients had 27 available preoperative three-dimensionalreformatted CT scans. Seven of these had a normal sagittal anteriorcranial fossa and normal coronal FE morphology. One of these 7patients had a second CT at an older age showing development ofbilateral FE flattening. Eleven patients had a sagging midline ante-rior cranial fossa including both patients who developed CSF rhinor-rhea. Of these 11 patients, all had unilateral or bilateral flattening ordepression of the FE, and 5 had abnormal slanting of the anteriorcranial fossa. Eight patients had normal sagittal morphology, but bi-lateral or unilateral depression of the FE, including the patient whodeveloped a meningoencephalocele. All patients with CSF leak hadpreviously had a fronto-orbital advancement (FOA). Three of 4patients with CSF leak did not have prior ventriculoperitoneal shuntplacement. The patient with postoperative meningoencephalocelehad prior FOA and shunt.Conclusions: We studied the abnormal position of the sagging orslanted anterior cranial base and depressed FE in patients with syn-dromic coronal synostosis. These findings may explain the risk fordural tear during osteotomies at the nasofrontal suture and superior-medial orbital wall. Attention to the morphology of the anterior cra-nialbase,asseenonsagittalandcoronalCTimages,aidsinpreventingthese complications. Patients who have a shunt are at lower risk forCSF leak; however, patients who have had an FOA are at higher risk.Key Words: Meningoencephalocele, Le Fort III,dural disruption, CSF rhinorrhea(J Craniofac Surg 2011;22: 182Y186)