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Background Goldenhar syndrome is a rare congenital disorder. Limbal dermoid associated with this syndrome can cause high astigmatism and amblyopia in children. We report significant reduction in astigmatism, after limbal dermoid excision with lamellar keratoplasty, in a rare case of Goldenhar syndrome. Method A three-year-old female patient, with left-sided limbal dermoid with high astigmatism and amblyopia, was referred to us for visual rehabilitation. Results The patient had left-sided limbal dermoid and preauricular appendages. Oral examination revealed bifid labial frenum, a deep antegonial notch on the left side of the mandible and missing left upper central incisor teeth. She was diagnosed as a case of Goldenhar syndrome. Her best-corrected visual acuity was 20 of 20 in the right eye and 20 of 200 in the left eye. Refraction showed astigmatism of −10 diopters in her left eye. She underwent limbal dermoid excision with lamellar keratoplasty in her left eye, after which her astigmatism reduced considerably. Conclusions Early surgical intervention is recommended in cases of limbal dermoid with high astigmatism as it provides not only good cosmetic but also good visual benefits by early institution of treatment for amblyopia.

A 9-year-old male patient presented with recurrent episodes of corneal ulcers in both eyes since the age of 2 years. The patient had profound bilateral hearing loss and multiple left-sided preauricular skin tags. He was diagnosed with neurotropic keratitis with bilateral corneal anesthesia in both eyes and on further work-up was diagnosed to have Goldenhar Syndrome with features of left-sided facial skeletal hypoplasia and bilateral auditory nerve atresia. The patient was managed by multiple specialities with standard of care medications, therapies, and procedures and is presently thriving. Goldenhar syndrome is a rare congenital disorder which involves ocular, auricular, and cranial nerves along with facial and vertebral anomalies. The insufficient knowledge of its pathogenesis and variable clinical presentations present a challenge in timely diagnosis and management of these cases. The involvement is generally unilateral and unilateral skeletal asymmetry with bilateral cranial nerve involvement is a rare event. The wide variation in clinical presentation and under diagnosis of these cases in India mandates a better understanding of this entity among medical professionals to facilitate early diagnosis and favorable clinical outcomes.

Aim: This article provides a review of a decade of clinical research studies on clinical features, medical interventions, and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinical research. Method: A systematic search of literature was conducted in Embase and PubMed/MEDLINE Ovid. All publications from 2010 to 2020 that included at least 10 individuals with CFM were considered relevant for this study. Results: A total of 91 articles were included. In the past decade, many new studies on CFM have been published providing more insight on the diagnosis and management of patients with CFM. This review encompasses findings on the clinical difficulties patients with CFM encounter, including the craniofacial and extracraniofacial characteristics of patients with CFM and its related clinical consequences on breathing, feeding, speech, and hearing. Conclusions: A considerable number of large multicenter studies have been published in recent years, providing new insights in the clinical consequences of CFM. The phenotypic variety between patients with CFM makes patient-specific treatment tailored to individual needs essential. The research and development of clinical care standards might be challenging because of the heterogeneity of CFM. Future research on clinical and patient-reported outcomes can help identify optimal treatment strategies. Cooperation between craniofacial centers, using uniform registration and outcome measurement tools, could enhance research and future care for these patients. Level of evidence: Level IV.

Owing to the complex clinical manifestations of hemifacial microsomia (HFM), multidisciplinary cooperation is required to achieve better therapeutic effects in terms of function and aesthetics. This study aimed to explore the efficacy of the expanded two-flap auricular reconstruction combined with mandibular distraction osteogenesis in the treatment of HFM.This surgical strategy was performed in three stages. In the first stage, the retroauricular skin was expanded with a tissue expander and a mandibular distraction device was installed. In the second stage, the traditional expanded two-flap method for auricular reconstruction was adapted, and the framework was fabricated with costal cartilage and wrapped with the expanded skin flap, retroauricular fascia flap, and full-thickness skin graft. In the final stage, the tragus and lobule were rebuilt, the concha cavity deepened, and the mandibular distraction device removed.From January 2014 to November 2018, 166 HFM patients underwent auricular reconstruction with the expanded two-flap method and simultaneous mandibular extension in our hospital. The median follow-up period was 9.3 months. Of the 166 patients, 154 patients and their families were satisfied with the results, and only 16 patients experienced complications.This three-stage technique of simultaneous auricular reconstruction and mandibular distraction osteogenesis is safe and effective in achieving facial symmetry, improving occlusal contact, shortening treatment course, and relieving patient's suffering, especially for HFM patients.

In this study, the aim was to assess whether using elastic traction during the active period of distraction osteogenesis could effectively increase the vertical extension. Patients with Pruzansky-Kaban Type II mandibular deformity were recruited and randomly assigned into Elastic traction + Distraction Osteogenesis group or Distraction Osteogenesis group, respectively. During the active period, the experimental group received orthodontic elastic traction 3 days after distraction osteogenesis implantation, while the control group received no treatment. All the participants underwent computed tomography (CT) examination before surgery, at the end of the active period, 6 months and 2 years after distraction osteogenesis tractor implantation. The primary outcome was the effective vertical extension rate of the mandible from the baseline to the end of the active period after operations, and there were 7 secondary outcomes used. 70 patients were included. The effective vertical extension rates were 85.021% ± 7.432% (mean ± SD) and 68.811% ± 9.510% (mean ± SD) in the experimental and control groups, respectively (P = 0.001). The average distances between the lower middle incisor point to the sagittal plane at the end of the active period were 2.485 ± 1.411 mm and 3.938 ± 2.293 mm in the experimental and control groups, respectively (P = 0.026). At the end of the active period of distraction osteogenesis, the average values of the mandibular occlusal plane canting were −4.887 ± 3.126 mm and −0.177 ± 4.029 mm in the experimental and control groups, respectively (P = 0.026). Elastic traction-assisted distraction osteogenesis could improve traction efficiency and facial symmetry.

The aim of this study was to explore how mandibular distraction osteogenesis influences morphological changes in the oropharynx and laryngopharynx. This was a retrospective study of airway parameter measurements in CFM patients undergoing mandibular distraction osteogenesis treatment. The indication for surgical treatment was the obvious facial asymmetry. Mimics 17.0 (Materialise Inc., Belgium) was used to build 3D models of the oro- and laryngopharynx. The minimum cross-sectional area (CSA), mean CSA, volume, length, and surface area were measured in the 3D models. All data were entered into SPSS v. 23.0 (SPSS Inc. USA), with statistical differences assessed pre- and postoperatively using the Wilcoxon test. Thirty-two patients diagnosed with CFM were included in this study. Five were classified as type IIa, 21 as type IIb, and six as type III, using the Pruzansky–Kaban classification. The average age of the patients was 8.34 years; 14 were females and 18 were males. The average traction time was 35.59 days and the average length of traction was 35.81 mm. The total volume of the airway was significantly increased after MDO (p = 0.001). In the oropharynx and laryngopharynx segments, the mean CSA, minimum CSA, and surface area were statistically significantly different. According to the results, expansion of oropharynx and laryngopharynx were evident after MDO. Mandibular distraction osteogenensis (MDO) can expand the volume of the oropharynx and laryngopharynx. Therefore, MDO can be considered a clinically useful treatment for changing the structure of the oropharynx and laryngopharynx.

Objective The aim of this study was to evaluate the anatomic course of the mandibular canal in patients with hemifacial microsomia (HM). Study Design In this retrospective study, 77 patients were included and stratified according to the Pruzansky-Kaban classification. The mandibular canal and the mandible were reconstructed on the basis of computed tomography data. The entrance, route, and exit of the mandibular canal (representing the entrance, route, and exit of the inferior alveolar nerve [IAN], respectively), and the antilingula were analyzed in different types of mandibular deformities in patients with HM. Results No significant difference in the course of the mandibular canal was detected between the affected and unaffected sides in patients with type I and type IIa HM. Abnormalities were observed in some patients with type IIb and type III HM. Significant differences were found between patients with type IIb and type III HM in the entrance (P = .015) and route (P = .001) of the canals. The antilingula was identified only in patients with type IIb and type III HM and was more common in patients with type III HM than in those with type IIb HM. Conclusions Variation of the anatomic course of mandibular canal exists in patients with Pruzansky-Kaban type IIb and type III HM. Evaluation of the course of the canal in patients with HM is recommended before surgical intervention to avoid IAN damage.

Background Distraction osteogenesis can be used to treat hemifacial microsomia in patients of any age group. Application of three-dimensional (3D) technology in the surgical planning of distraction osteogenesis allows the placement of an intraoral distractor to define the cutting line and help predict the outcome of surgery. Aim This study compared the results of distraction osteogenesis performed, using computer-assisted surgery, on OMENS-plus-classified M2A, M2B, and M3 type patients. Comparisons were in terms of either accuracy or predictability. Methods 40 patients were selected to participate in the 8-month study. Preoperative image data from 3D-CT scans of the 40 patients were translated into DICOM format 3D cephalometrics, run using the computer software MIMICS version 18, and based on eight reference anatomical landmark points, five lines of measurement, and the midline of the mandibular plane. The distraction vector for the affected side of mandible was selected and the elongation process simulated repeatedly until satisfactory results were obtained. The surgical guide was created using CAD/CAM-RP technology. The distraction osteogenesis procedure was then performed using the surgical guides. Follow-up for all patients continued until 8 months postoperatively. Accuracy with and without computer-assisted surgery was assessed linearly and volumetrically. Simple mean comparisons and paired t-tests were conducted using IBM SPSS V21. Results In those patients who received computer-assisted surgery, distraction in the M2A type mandible showed accuracy of around 97.77% ± 7.92% (p > 0.05) for height and 97.91% ± 10.23% (p > 0.05) for length of the mandible. Meanwhile, the M2B type mandible presented accuracy of around 93.85% ± 8.07% (p > 0.05) for height and 95.85% ± 10.16% (p > 0.05) for length. For the M3 type mandible accuracy was around 98.42% ± 6.58% (p > 0.05) for height and 97.14% ± 11.45% (p > 0.05) for length. These measurements showed no significant differences between preoperative design and real outcome. Conclusions Individualized guides improve the accuracy of distraction osteogenesis. They help the surgeon to identify the mandibular defect and ensure the desired outcome after the operation.

To quantify the surface facial asymmetry in a group of young patients with hemifacial microsomia (HFM) and to investigate differences with a homogeneous sample of healthy subjects, using a novel stereophotogrammetric method.Twelve patients (mean age 13.1 ± 3.1 years) with different degrees of HFM and 15 healthy controls (mean age 12.2 ± 3.5 years) were imaged with a stereophotogrammetric facial scanner. The root mean square error (RMSE) of the distances between the corresponding points of each original photograph and its mirror copy was calculated for the whole face and for each trigeminal third, as defined by the innervation of trigeminal branches. A statistical analysis was performed to compare the RMSE value of all facial areas within each group and between patients and controls.RMSE values progressively increased from the upper to the lower third of face, both in patients and controls. The level of asymmetry was significantly higher in HFM subjects for middle third (p 0.01), lower third (p 0.001) and whole face (p 0.001); no statistically significant differences were found between the groups for the upper third.The reported technique provides an accurate topographic analysis of the facial asymmetry, and is recommended for conditions such as HFM affecting only part of the face.

Craniofacial microsomia (CFM) is characterized by an underdevelopment of the facial structures arising from the first and second branchial arches, but extracraniofacial anomalies such as vertebral anomalies may be present. This retrospective study was performed to determine the prevalence and types of vertebral anomalies and the association with other extracraniofacial anomalies in patients with CFM. The charts of all patients diagnosed with CFM seen in four craniofacial centres were reviewed for the presence of vertebral anomalies, symptoms, extracraniofacial anomalies, and the OMENS classification including the Pruzansky-Kaban type of mandibular deformity. A total of 991 patients were included and 28% of the patients had vertebral anomalies. The most common vertebral anomalies included scoliosis, block vertebrae, and hemivertebrae. Only 44% of the patients with vertebral anomalies had clinical symptoms; torticollis, back or neck pain, and limited neck movement were the most frequently seen. The prevalence of vertebral anomalies was greater in patients with bilateral CFM and in patients with a more severe mandibular deformity, and/or orbit, facial nerve, and/or soft tissue involvement. Patients with vertebral anomalies had significantly more extracraniofacial anomalies than patients without vertebral anomalies. Therefore, patients with vertebral anomalies should undergo cardiac, renal, and neurological evaluation.

We have assessed the accuracy and clinical validation of virtual planning using a surgical template in 16 patients with hemifacial microsomia being treated by mandibular distraction osteogenesis. Virtual planning and simulation were first done on three-dimensional models. Distraction was simulated on the virtual model and the new morphology of the mandible was previewed. Both the position and direction of the distractor were calculated to achieve the optimal morphology. The templates were designed based on the virtual planning, and manufactured using a 3-dimensional printing technique. The template was designed to assist the surgeon to make the osteotomy and predrill the screw-holes to guide the distractor into position. The outcome was evaluated by comparing planned with postoperative outcomes. The osteotomy was made and the distractor implanted successfully under the guidance of the template in all patients. The linear and angular differences for the distractor were measured and reported using the root mean square deviation. There was no difficulty in using the templates. The largest linear root mean square deviation between the planned and the postoperative distractors was 0.93mm in the anteroposterior direction, and the largest in the horizontal plane was 4.64°. We suggest that the preoperative plan can be transferred accurately to a patient using the template.

Background Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a variant of hemifacial microsomia, a congenital condition affecting primarily aural, oral, and mandibular development, with vertebral anomalies, ocular abnormalities, and epibulbar dermoids. As a complex and heterogeneous condition, this disorder varies from mild to severe, and involvement is unilateral in many cases, but bilateral involvement is also known to occur. It presents several complex problems in treatment, requiring an integrated, multidisciplinary approach. Clinical and Radiographic Findings Oculo-auriculo-vertebral spectrum has a wide range of clinical manifestations. This report describes radiographic features of the syndrome in 3 patients, as visualized on maxillofacial cone beam computed tomography. Pertinent radiographic findings include multiple substantial unilateral anomalies affecting the skull, cervical vertebrae, orbits, ears, maxilla, mandible, and teeth. Definitive Interpretation Radiographic features are consistent with those previously reported in the literature for oculo-auriculo-vertebral spectrum. Conclusions It is important to emphasize the relevance of diagnostic imaging and characterization of the syndrome as well as the significance of coordinated diagnosis and management approaches among oral and maxillofacial radiologists and medical/dental specialists to allow for planning and implementation of interdisciplinary intervention at an early stage.

Background This study is based in an analysis of the skeletal remains of an adult male from the Teramo Sant’Anna archaeological site (7th–12th centuries of the Common Era, Teramo, Italy). Results and discussion The individual shows distinct abnormalities that principally involve asymmetric hypoplasia and dysmorphogenesis of the facial skeleton. The combination of these findings and the absence of abnormalities of the spine strongly suggest diagnosis of the congenital malformation known as hemifacial microsomia. This very heterogeneous syndrome affects primarily aural, ocular, oral and mandibular development. Despite the lack of clinical information and the absence of soft tissue, it was possible to perform a differential diagnosis for this palaeopathological case. Mastication was probably altered considering that the mandible is extremely asymmetric and lacks true condyles. The temporomandibular joints are present, but the right one is hypoplastic and abnormal in shape. There is evidence of bilateral dislocation, and the facial muscles are hypertrophic. Conclusions This case represents an important contribution to the palaeopathological literature because this is an uncommon condition that has not been widely documented in ancient skeletal remains.

Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis. The genomic imbalances investigation by Multiplex Ligation-dependent Probe Amplification (MLPA) and Chromosomal Microarray Analysis (CMA) revealed a distal deletion of 1,048 kb at 22q11.2 encompassing the region from Low Copy Repeats (LCRs) D to E. We did review of the literature and genotype-phenotype correlation. This is the sixth case of distal 22q11.2 deletion resembling CFM and the second encompassing the region between LCRs D to E. All cases share some phenotypic signs, such as preauricular tags, facial asymmetry, cleft lip and palate, and congenital heart diseases. Candidate genes in this region have been studied by having an important role in pharyngeal arches developmental and in congenital heart diseases, such as HIC2, YPEL1and MAPK1/ERK2. This case corroborates the phenotypic similarity between 22q11.2 distal deletion and CFM/OAVS. It also contributes to genotype-phenotype correlation and reinforces that candidate genes for CFM, in the 22q11.2 region, might be located between LCRs D and E.

The field of craniofacial malformations is comprehensive and does not allow to discuss all craniofacial malformations which have been described as single entities. Many of the syndromes with craniofacial malformations are ultrarare. In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome. These syndromes will be described in detail. Diagnostic and therapeutic options will be discussed.

The aim of this study was to compare the anatomical differences in the skull base between the affected and non-affected side in patients with craniofacial microsomia (CFM), and to compare the affected and non-affected sides with measurements from a normal population. Three-dimensional computed tomography scans of 13 patients with unilateral CFM and 19 normal patients (age range 7-12 years) were marked manually with reliable homologous landmarks. Principal component analysis (PCA), as part of a point distribution model (PDM), was used to analyse the variability within the normal and preoperative CFM patient groups. Through analysis of the differences in the principal components calculated for the two groups, a model was created to describe the differences between CFM patients and normal age-matched controls. The PDMs were also used to describe the shape changes in the skull base between the cohorts and validated this model. Using thin-plate splines as a means of interpolation, videos were created to visualize the transformation from CFM skull to normal skull, and to display the variability in shape changes within the groups themselves. In CFM cases, the skull base showed significant asymmetry. Anatomical areas around the glenoid fossa and mastoid process showed the most asymmetry and restriction of growth, suggesting a pathology involving the first and second pharyngeal arches.

Purpose To assess the two- and three-dimensional airway changes following unilateral vertical mandibular distraction osteogenesis (vMDO) in patients with hemifacial microsomia (HFM). Methods A retrospective evaluation was performed for consecutive patients over an 18-month period with HFM and with Kaban-Pruzansky Type-II mandibular deformities who underwent unilateral vMDO for correction of vertical mandibular asymmetry. Patients with complete records and a minimum of 12 months of clinical follow-up post-consolidation were included. Pre-operative airway dimensions (diameters, cross-sectional areas, and volumes) were measured for the oropharynx and nasopharynx. Pre-operative airway dimensions were compared to post-distraction measurements taken from 3D-CT data obtained at a minimum of 3 months post-consolidation. Results Five patients met inclusion criteria. Median age was 12.6 years, 3 were female, and median distraction length was 21.3 mm. Median final follow-up CT was performed 5 months after completion of distraction. There were no major or minor complications. Median total airway volume change was +33.7%, corresponding to median volume changes of 80.5% and 10.5% for the oropharyngeal and nasopharyngeal airways, respectively. Conclusion Unilateral vMDO expands the minimum diameter and volume of the oropharyngeal to a greater extent than the nasopharyngeal airway in HFM patients with Kaban-Pruzansky Type-II mandibular deformities.

Patients with craniofacial syndromes that affect mandibular conformation and growth may face significant airway difficulties. Mandibular distraction osteogenesis is a favored surgical approach for addressing micrognathia or retrognathia, in which bone is generated at distracted osteotomized segments in order to advance the mandible and improve airway patency1. Patients with severe craniofacial anomalies, including Goldenhar Syndrome, may have unfavorable mandibular anatomy for distraction, and it has been shown that patients with Goldenhar Syndrome have lower success rates with mandibular distraction and more often require tracheostomy2. Novel approaches must be explored to better treat the respiratory issues these patients endure as a result of their craniofacial abnormalities. One infant with a severe form of hemifacial microsomia and airway obstruction requiring oxygen via nasal cannula underwent a novel technique of bilateral extraoral vertical ramus osteotomies with bone graft placement to advance the mandible. Patient outcomes were assessed clinically and with pre- and post-operative computed tomography (CT) scans and polysomnograms (PSG). In November of 2020, one 2-month-old male with hemifacial microsomia and respiratory difficulties underwent bilateral extraoral vertical ramus osteotomies with bone graft placement, as his anatomy made him a poor candidate for mandibular distraction. Post-operative CT scan showed a more anatomical condylar position relative to the glenoid fossa bilaterally, improved chin point position to midline, a more favorable maxillomandibular position, and improved airway patency. Pre-operative PSG showed an apnea-hypopnea index (AHI) of 29.3, with the 1-month post-operative PSG showing an AHI of 17.3 and the 4-month post-operative PSG showing an AHI of 0.6. In neonatal or infant patients with severe forms of craniofacial anomalies, including Goldenhar syndrome, mandibular advancement via bilateral vertical ramus osteotomies with bone grafting is a functional alternative to mandibular distraction osteogenesis. For patients with more severe forms of hemifacial microsomia, including Goldenhar Syndrome, mandibular distraction osteogenesis may not be a predictable approach for relieving airway distress. This case report presents a novel technique for addressing the respiratory difficulties associated with this congenital condition. Bilateral vertical ramus osteotomies with bone graft placement can effectively advance the mandible, stabilizing the airway and avoiding the need for tracheostomy in this population.

Purpose Craniofacial microsomia (CFM) is a congenital malformation of structures derived from the first and second pharyngeal arches leading to underdevelopment of the face. However, besides the craniofacial underdevelopment, extracraniofacial anomalies including cardiac, renal and skeletal malformation have been described. The aim of this study is to analyse a large population of patients with regard to demographics, typical phenotypes including craniofacial and extracraniofacial anomalies, and the correlations between the different variables of this condition. Material and methods A retrospective study was conducted in patients diagnosed with CFM with available clinical and/or radiographic images. All charts were reviewed for information on demographic, radiographic and diagnostic criteria. The presence of cleft lip/palate and extracraniofacial anomalies were noted. Pearson correlation tests and principal component analysis was performed on the phenotypic variables. Results A total of 755 patients were included. The male-to-female ratio and right-to-left ratio were both 1.2:1. A correlation was found among Pruzansky–Kaban, orbit and soft tissue. Similar correlations were found between ear and nerve. There was no strong correlation between phenotype and extracraniofacial anomalies. Nevertheless, extracraniofacial anomalies were more frequently seen than in the ‘normal’ population. Patients with bilateral involvement had a more severe phenotype and a higher incidence of extracraniofacial and cleft lip/palate. Conclusion Outcomes were similar to those of other smaller cohorts. Structures derived from the first pharyngeal arch and the second pharyngeal arch were correlated with degree of severity. Extracraniofacial anomalies were positively correlated with CFM. The findings show that bilaterally affected patients are more severely affected and should be approached more comprehensively.

This study was conducted to analyze the long-term facial growth of patients with craniofacial microsomia (CFM) after early mandible distraction osteogenesis (DO), and compared adult three-dimensional (3D) craniofacial features of patients with and without early mandibular DO for Pruzansky grade II deformities. The study included 20 patients: 9 with early mandible DO (the DO group) and 11 without previous treatment (the NDO group). Longitudinal radiographs were measured for growth changes after DO. The 3D craniofacial images were constructed to compare the craniofacial forms between the two groups. The patients with early DO presented 8 to 9 mm forward and downward maxillary growth and 4.6 mm limited forward and 17.3 mm substantial downward mandibular growth. The ramus length ratio (affected/nonaffected) was 90.8% at DO completion and decreased to 69.5% at growth completion during 13 years of follow-up. Both groups showed obvious craniofacial asymmetry, as indicated by occlusal plane canting, chin deviation, transverse and vertical condyle positions, and mandibular contours. Although all the bilateral differences were higher in the NDO group than in the DO group, no statistical differences were found. Early mandible distraction could not alter the inherent facial growth pattern in patients with grade II CFM. Limited changes are derived for definitive facial correction with early DO.

Craniofacial microsomia (CFM) encompasses a broad spectrum of phenotypes. It is thought to result from defective development of the first and second pharyngeal arch structures, and generally presents with anomalies of the mandible and other facial bones, ears, and overlying soft tissues. The cause of CFM is thought to involve both extrinsic and genetic risk factors. Several classification systems have been developed to help stratify patients based on the severity of their defects. Treatment of patients includes repair of bony asymmetry as well as soft tissue defects and auricular anomalies. Surgical intervention is individualized based on each patient's deficits.

Timing of surgical intervention in hemifacial microsomia (HFM) is controversial. Although mandibular osteodistraction in childhood for HFM is popular, recent data for single-stage distraction in growing HFM patients demonstrated long-term relapse. Literature suggests that adolescents in the late mixed dentition age or permanent dentition age (11-16-year-old) had more stable outcomes post-distraction than younger children. We present favorable experience using single-treatment simultaneous maxillo-mandibular distraction in early adolescent Pruzansky-Kaban type II HFM patients.This was a retrospective longitudinal study of seven consecutive type IIa/b HFM growing patients (12-16-year-old) treated with simultaneous maxillo-mandibular distraction. Oral commissure cant was photographically measured preoperatively and at 6 months and annually ranging 3-7 years post-distraction. Ramus height and chin deviation were measured from radiographs done preoperatively and at distractor-removal, 1 year, 2 years, and 4 years post-distraction.Average age at osteodistraction and at latest follow-up was 13.7 and 18.6 years, respectively. Improvement was significant (p 0.05) and sustained for mean oral commissure cant (5.1°-0.41°), mean ramus height ratio (0.59-0.86), and average chin deviation (15.9 mm-1.2 mm). Two subjects had mandibular branch palsy and one had mild pin-tract infection - all resolved. All were satisfied with their facial appearance.We have demonstrated good lasting outcomes at completion of growth with single-stage simultaneous maxillo-mandibular distraction for type II HFM adolescents in the late mixed-dentition or older age, and advocate this as an alternative to osteodistraction or orthognathic surgery upon skeletal maturity.

Disordered craniofacial development frequently results in definitive facial asymmetries that can significantly impact a person's social and functional well-being. The mandible plays a prominent role in defining facial symmetry and, as an active region of growth, commonly acquires asymmetric features. Additionally, syndromic mandibular asymmetry characterizes craniofacial microsomia (CFM), the second most prevalent congenital craniofacial anomaly (1:3000 to 1:5000 live births) after cleft lip and palate. We hypothesized that asymmetric rates of mandibular growth occur in the context of syndromic and acquired facial asymmetries.To test this hypothesis, a spherical harmonic-based shape correspondence algorithm was applied to quantify and characterize asymmetries in mandibular growth and remodeling in 3 groups during adolescence. Longitudinal time points were automatically registered, and regions of the condyle and posterior ramus were selected for growth quantification. The first group (n = 9) had a diagnosis of CFM, limited to Pruzansky-Kaban type I or IIA mandibular deformities. The second group (n = 10) consisted of subjects with asymmetric, nonsyndromic dentofacial asymmetry requiring surgical intervention. A control group (n = 10) of symmetric patients was selected for comparison. A linear mixed model was used for the statistical comparison of growth asymmetry between the groups.Initial mandibular shape and symmetry displayed distinct signatures in the 3 groups (P 0.001), with the greatest asymmetries in the condyle and ramus. Similarly, mandibular growth had unique patterns in the groups. The dentofacial asymmetry group was characterized by significant asymmetry in condylar and posterior ramal remodeling with growth (P 0.001). The CFM group was characterized by asymmetric growth of the posterior ramus (P 0.001) but relatively symmetric growth of the condyles (P = 0.47).Forms of CFM are characterized by active and variable growth of the dysplastic side, which has a distinct pattern from other disorders of mandibular growth.

Goldenhar's syndrome, named after Dr M Goldenhar, is normally reserved for cases presenting hemi-facial microsomy. This syndrome normally affects upper and lower jaws, pinna, and adjacent tissues in a hemi-face. The target of this rehabilitation is to restore to its maximum possible extent patient's esthetics and masticatory function. We present intra-oral rehabilitation of a Goldenhar Syndrome patient who attended the maxillofacial prosthesis clinic. The patient exhibited complete edentulism, maxillary and mandibular hypoplasia (this latter compensated with a titanium chain). Prosthetic bi-maxillary rehabilitation was undertaken, bearing in mind circumstances of facial asymmetry, mandibular movement limitations and decreased alveolar ridges. Treatment was mainly focused on improvement of esthetic, phonetic and masticatory functions, which, as a whole are crucial in patient's day-to-day life and quality of life.

The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P.

Case report A 4-year-old male diagnosed with Goldenhar syndrome, with an unremarkable ophthalmic history, develops a neurotrophic ulcer secondary to trigeminal nerve aplasia. It was treated with multilaminar amniotic membrane transplantation. Discussion Trigeminal nerve aplasia is not usually reported in Goldenhar syndrome. Therefore, it seems necessary to perform routine eye examinations, from an early age, to prevent serious complications associated with corneal anesthesia.

In the United States, the most widely used classification system for jaw deformities is the one provided by the Center for Medicare and Medicaid Services and the National Center for Health Statistics. This classification is part of the International Classification of Diseases, Clinical Modification (ICD-CM), a taxonomy scheme that is based on the World Health Organization’s ICD, the world’s standard diagnostic tool for epidemiology, health management, and clinical care. 1 The most recent iteration of ICD-CM, the Tenth Revision (ICD-10-CM), sorts jaw deformities according to geometry into 3 groups: anomalies of jaw size, anomalies of the relation between the jaw and the cranial base, and unspecified (Table 1). 2 However, these deformities can affect 6 different geometric attributes: size, position, orientation, shape, symmetry, and completeness. In clinical practice and in teaching, the authors have found the ICD-CM classification to be incomplete and disjointed. With this in mind, the authors have developed a better classification system. The purpose of this report is to present it.

Goldenhar syndrome is characterized by many anomalies of structures originating from the first and second branchial arches. It is a rare and complex hereditary condition of variable phenotypes. The syndrome has an estimated prevalence of 1:26,000 live births with a higher prevalence in the male sex (3: 2) and may have a unilateral or bilateral involvement with a right-hand predilection of 3:2 in relation to the left side. This study is about a case of a young man who was followed up because of his anomalies of the stomatognathic system characteristic of the syndrome during childhood and was referred at age 22 to the buccomaxillofacial prosthesis clinic so that he could rehabilitate the left pavilion with a characterized and individualized silicone prosthesis.

Hydrocephalus is a pathology characterized by increased head circumference and intracranial pressure with cerebrospinal fluid expansion. Goldenhar syndrome is a congenital anomaly due to errors in morphogenesis, causing variations in the face, ears, and vertebra, constantly associated with other congenital visceral malformations. This article aims to describe the case of a 5-year-old boy diagnosed as having hydrocephalus associated with Goldenhar syndrome. He was referred by a multidisciplinary medical team for the dental evaluation to adapt the oral environment because of the high tooth decay occurrence. This adequacy was achieved through prophylaxis, fluoride application, supervised brushing, restorations, periapical radiographs for exodontia, and educational activities with those who take care of the patient. The team concluded that treatment should be carried out with a multidisciplinary approach, seeking to improve the appearance and functionality of the affected structures and aiming at preventive control to ensure their psychosocial integration.

Introduction Oculo-auriculo-vertebral spectrum (OAVS OMIM 164210 ) is a craniofacial developmental disorder affecting the development of the structures derived from the 1st and the 2nd branchial arches during embryogenesis, with consequential maxillary, mandibular, and ear abnormalities. The phenotype in OAVS is variable and associated clinical features can involve the cardiac, renal, skeletal, and central nervous systems. Its aetiology is still poorly understood. Methods We have evaluated the clinical phenotypes of 51 previously unpublished patients with OAVS and their parents, and performed comparative genomic hybridization microarray studies to identify potential causative loci. Results Of all 51 patients, 16 (31%) had a family history of OAVS. Most had no relevant pre-natal history and only 5 (10%) cases had a history of environmental exposures that have previously been described as risk factors for OAVS. In 28 (55%) cases, the malformations were unilateral. When the involvement was bilateral, it was asymmetric. Ear abnormalities were present in 47 (92%) patients (unilateral in 24; and bilateral in 23). Hearing loss was common (85%), mostly conductive, but also sensorineural, or a combination of both. Hemifacial microsomia was present in 46 (90%) patients (17 also presented facial nerve palsy). Ocular anomalies were present in 15 (29%) patients. Vertebral anomalies were confirmed in 10 (20%) cases; 50% of those had additional heart, brain and/or other organ abnormalities. Brain abnormalities were present in 5 (10%) patients; developmental delay was more common among these patients. Limb abnormalities were found in 6 (12%) patients, and urogenital anomalies in 5 (10%). Array-CGH analysis identified 22q11 dosage anomalies in 10 out of 22 index cases screened. Discussion In this study we carried out in-depth phenotyping of OAVS in a large, multicentre cohort. Clinical characteristics are in line with those reported previously, however, we observed a higher incidence of hemifacial microsomia and lower incidence of ocular anomalies. Furthermore our data suggests that OAVS patients with vertebral anomalies or congenital heart defects have a higher frequency of additional brain, limb or other malformations. We had a higher rate of familial cases in our cohort in comparison with previous reports, possibly because these cases were referred preferentially to our genetic clinic where family members underwent examination. We propose that familial OAVS cases show phenotypic variability, hence, affected relatives might have been misclassified in previous reports. Moreover, in view of its phenotypic variability, OAVS is potentially a spectrum of conditions, which overlap with other conditions, such as mandibulofacial dysostosis. Array CGH in our cohort identified recurrent dosage anomalies on 22q11, which may contribute to, or increase the risk of OAVS. We hypothesize that although the 22q11 locus may harbour gene(s) or regulatory elements that play a role in the regulation of craniofacial symmetry and 1st and 2nd branchial arch development, OAVS is a heterogeneous condition and many cases have a multifactorial aetiology or are caused by mutations in as yet unidentified gene(s).

Through three-dimensional real time imaging, augmented reality (AR) can provide an overlay of the anatomical structure, or visual cues for specific landmarks. In this study, an AR Toolkit was used for distraction osteogenesis with hemifacial microsomia to define the mandibular osteotomy line and assist with intraoral distractor placement.20 patients with hemifacial microsomia were studied and were randomly assigned to experimental and control groups. Pre-operative computed tomography was used in both groups, whereas AR was used in the experimental group. Afterwards, pre- and post-operative computed tomographic scans of both groups were superimposed, and several measurements were made and analysed.Both the conventional method and AR technique achieved proper positioning of the osteotomy planes, although the AR was more accurate. The difference in average vertical distance from the coronoid and condyle process to the pre- and post-operative cutting planes was significant (p0.01) between the two groups, whereas no significant difference (p0.05) was observed in the average angle between the two planes. The difference in deviations between the intersection points of the overlaid mandible across two cutting planes was also significant (p0.01).This study reports on an efficient approach for guiding intraoperative distraction osteogenesis. Augmented reality tools such as the AR Toolkit may be helpful for precise positioning of intraoral distractors in patients with hemifacial microsomia in craniofacial surgery.

Transverse facial clefts are rare orofacial birth defects with a wide range of severity. This congenital anomaly may be part of a syndrome. Therefore it is important to look for associated anomalies in the presence of a transverse facial cleft. We describe the occurrence of transverse facial cleft associated with esophageal atresia.

Microtia is a term used to describe a wide array of phenotypic presentations of the outer ear. Although the majority of the cases are isolated in nature, much of our understanding of the causes of microtia has been driven by the identification of genes underlying syndromic forms where the anomaly co-presents with various other craniofacial and extra-craniofacial structural defects. In this review we discuss recent findings in mice deficient in Hoxa2, a key regulator of branchial arch patterning, which has necessitated a revision to the canonical model of pinna morphogenesis. The revised model will likely impact current classification schemes for microtia and, as we argue in this review, the interpretation of the developmental basis for various auricular malformations. In addition, we highlight recent studies in other mammalian species that are providing the first clues as to possible causes of at least some isolated anomalies and thus should now accelerate the search for the more elusive genetic contributions to the many isolated and non-syndromic cases of microtia. These findings, together with the application of new genome-level sequencing technologies and more thorough quantitative assessment of available mutant mouse resources, promise an exciting future for genetic studies in microtia.

Introduction The purpose of this study was to evaluate the concept that the affected and contralateral sides do not grow at the same rate in patients with hemifacial microsomia. Changes in the cranial base, maxilla, mandible, and occlusal plane were evaluated on 3-dimensional images from cone-beam computed tomography data in untreated patients. Methods Six patients were classified as having mandibular Pruzansky/Kaban type I, IIA, or IIB hemifacial microsomia. Cone-beam computed tomography (MercuRay; Hitachi, Tokyo, Japan) scans were taken before orthodontic treatment during both growth and postpuberty periods. Results The cranial base as defined by the position of the mastoid process was in a different position between the affected and contralateral control sides. The nasomaxillary length or height was shorter on the affected side for all 6 patients with hemifacial microsomia regardless of its severity, and it grew less than on the contralateral control side in 5 of the 6 patients. The occlusal plane angle became more inclined in 4 of the 6 patients. The mandibular ramus was shorter on the affected side in all patients and grew less on the affected side in 5 of the 6 patients. The mandibular body grew slower, the same, or faster than on the control side. Conclusions The cranial base, position of the condyle, lengths of the condyle and ramus, and positions of the gonial angle and condyle can vary between the affected and contralateral control sides of patients with hemifacial microsomia, with the ramus and nasomaxillary length usually growing slower than they grow on the control side. These results suggest that many factors affect the growth rate of the craniofacial region and, specifically, the mandible in patients with hemifacial microsomia.

Objective To examine the characteristics of sleep in patients with Goldenhar Syndrome. Design Retrospective review of all polysomnography studies conducted at the University of North Carolina Hospitals between 2003 and 2013 on patients carrying the diagnosis of Goldenhar's Syndrome. Results A preponderance of patients demonstrated severe obstructive sleep apnea and hypercapnia. Conclusions Patients with Goldenhar Syndrome should be screened for sleep apnea and hypercapnia.

Introduction A very famous paper by Sam Pruzansky, published in 1969, was entitled “Not all dwarfed mandibles are alike”. This is the topic of this paper: to describe the shape and discuss the possible pathogenesis of an extremely rare congenital dysplasia found in a unilaterally hypoplastic mandible, namely the isolated mandibular ramus. Material and methods A unique malformation of the lower jaw was found in more than 75 patients with developmental abnormalities of the mandible diagnosed and treated by the two authors in two different university hospitals over the last 40 years. We performed the following teratological experiments with laboratory rodents in order to try to understand the pathogenesis of this special dysplasia (and others): at first the normal development of the lower jaw was studied in rat and mouse foetuses. Then a variety of teratogenic drugs were applied to pregnant females and then the foetuses of these pregnancies were studied following Caesarian section. Results One rat foetus was identified which presented the identical dysplasia that had been noted in the patient described here. The dam pregnant with this foetus had been given 25 mg/kg bodyweight of 6-mercaptopurine on day 12 of pregnancy. The explanation found for the pathogenesis of this anomaly was deducted from the scientific literature regarding normal development of the mandibular condyle. Conclusion The nucleus of the so-called secondary cartilage that will produce the ascending ramus (plus condyle and coronoid) is a separate growth centre which fuses a short time later with the dental bone which becomes the mandible proper by this fusion.

Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a diagnosis of microtia treated in the Genetics Department. There was no significant difference in the sex of the individuals involved. The mean age was 6.97 years, with a range of 1 to 52 years. We founded positive inbreeding in 14 patients and consanguinity in 1 case. There was a family history of microtia in 37 cases. The most frequent malformations, besides microtia, were facial, costo-vertebral, limb, cardiac, genital, eye and other defects. Patients had a high percentage of family history, which could suggest an autosomal dominant inheritance with reduced penetrance.

Objective To describe the observed frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with dermolipoma. Design Retrospective case series. Participants Patients with primary presentation of ocular dermolipoma. Methods All patients with ocular dermolipoma or lipodermoid were identified from the authors' clinical databases from 1990 to 2011 inclusive. Case notes were reviewed retrospectively for the gender and age of presentation, the laterality of dermolipoma, and features of OAVS. Main Outcome Measures The frequency of OAVS in patients with dermolipoma, the severity of the OAVS phenotype, and other concurrent ophthalmic features observed. Results Thirty-four patients (24 females) presented with dermolipoma at ages ranging from 6 months to 57 years (mean, 20 years; median, 16 years). Twelve patients (35.5%) had features of OAVS (10 patients with dermolipoma had ipsilateral OAVS and 2 patients had contralateral features of OAVS). Ten patients with dermolipoma had hemifacial microsomia, and 2 patients had features of Goldenhar's syndrome. None of the patients had bilateral dermolipoma and OAVS. Other associated ophthalmic features were limbal dermoids (2 cases), lateral canthal coloboma (3 cases), and facial nerve palsy (1 case). Conclusions Dermolipoma is an independent ocular association of OAVS that is more commonly observed than previously reported. It is an ocular feature in both the milder and more complex forms of the spectrum. Financial Disclosure(s) The authors have no proprietary or commercial interest in any materials discussed in this article.

Alloplastic temporomandibular total joint replacement (TJR) for end-stage disease, congenital disorders and following ablative oncological surgery has been shown to reduce pain and improve function. The purpose was to assess the maximum voluntary bite force and maximum interincisal opening (MIO) in patients undergoing alloplastic total temporomandibular joint replacement (TJR). Seventeen patients with different diagnoses resulting in condylar hypomobility (8 patients; 15 joints) and condylar instability (9 patients; 12 joints) had undergone alloplastic TMJ reconstruction. Maximum voluntary bite force and MIO were measured at pre-operatively (T0), 2 (T1), 6 (T2) and 12 (T3) months. For ordinal data comparison at different time-points, the Wilcoxon signed-ranks test was used. There was a significant improvement in maximum voluntary bite force for both, patients with condylar hypomobility ( P = 0.003) and condylar instability ( P = 0.007). Analysis of MIO revealed a significant improvement at T3 ( P = 0.002). Alloplastic TJR would appear to increase maximum voluntary bite force and MIO. Biomechanical integrity of the stomatognathic system and the ability of the patient to triturate food could be improved by alloplastic temporomandibular joint (TMJ) replacement.

Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. The abnormalities of the head can include anomalies of the eyes, ears, facial bones, and mouth. These anomalies are extremely variable in severity. The exact cause of Goldenhar syndrome remains unknown. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar syndrome in a 1-year-old female, who presented some of the classical signs of this rare condition including Hemifacial Microsomia, epibulber dermoid tumor and preauricular skin tags. However, vertebral anomalies, deafness, renal and cardiac anomalies were absent. Skin tags on the anterior chest wall were reported in this patient for the first time.Keywords: Hemifacial Microsomia; Oculo–Auriculo–Vertebral Dysplasia; Epibulber dermoid tumor; Goldenhar syndrome

Maxillary distraction osteogenesis is well established for the treatment of severe retromaxilla. We report our experience since 2004 of the treatment of 19 patients using a new intraoral maxillary distraction device. Maxillary advancement was successful in all patients with mean advancement of 9.6mm (range 4-17) measured at a point in lateral cephalograms. The new device limited surgical exposure and the amount of materials implanted, and improved control in every phase of the distraction. It was psychologically accepted by patients and was more comfortable than existing devices.

Congenital malformations encompass a diverse group of disorders present at birth as result of genetic abnormalities, infection, errors of morphogenesis, or abnormalities in the intrauterine environment. Congenital disorders affecting the brain and spinal cord are often diagnosed before delivery with the use of prenatal ultrasonography and maternal serum screening. Over the past several decades there have been major advances in the understanding and management of these conditions. This article focuses on the most common spinal congenital malformations.

Temporomandibular joint (TMJ) reconstruction may be required in complex cases in which there are additional mandibular or zygomatic arch defects. The reconstructive options include autogenous tissue, alloplastic material, or combinations of these. The authors describe 4 cases in which TMJ reconstruction was performed with TMJ Concepts customized joint prostheses. The prosthetic components were designed to restore major defects in the zygomatic arch and the mandibular ramus and body, including one case in which the mandibular component was used to restore total mandibular continuity. The prosthetic components used in these cases provided excellent anatomical reconstruction, and were a viable treatment option in cases in which the pathological process made autogenous grafts unsuitable. The prostheses have been functioning for up to 6 years. In one case a revision operation was required because the lack of a pterygomasseteric sling resulted in the condyle dropping out of the fossa. The authors' clinical experience with these cases suggests that a customized prosthesis combined with TMJ reconstruction can be a reliable treatment alternative for bridging complex, major maxillo-mandibular defects.