Craniofacial Microsomia.

Clinicians use different diagnostic terms for patients with underdevelopment of facial features arising from the embryonic first and second pharyngeal arches, including first and second branchial arch syndrome, otomandibular dysostosis, oculoauriculovertebral syndrome, and hemifacial microsomia. Craniofacial microsomia has become the preferred term. Although no diagnostic criteria for craniofacial microsomia exist, most patients have a degree of underdevelopment of the mandible, maxilla, ear, orbit, facial soft tissue, and/or facial nerve. These anomalies can affect feeding, compromise the airway, alter facial movement, disrupt hearing, and alter facial appearance.

Vertebral anomalies in craniofacial microsomia: a retrospective analysis of 991 patients.

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.

Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.

BACKGROUND: Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features. METHODS: Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires. RESULTS: The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21). CONCLUSION: We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc.

Craniofacial Microsomia.

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.

Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs.

BACKGROUND: Craniofacial microsomia is a common congenital condition for which children receive longitudinal, multidisciplinary team care. However, little is known about the etiology of craniofacial microsomia and few outcome studies have been published. In order to facilitate large, multicenter studies in craniofacial microsomia, we assessed the reliability of phenotypic classification based on photographs by comparison with direct physical examination. METHODS: Thirty-nine children with craniofacial microsomia underwent a physical examination and photographs according to a standardized protocol. Three clinicians completed ratings during the physical examination and, at least a month later, using respective photographs for each participant. We used descriptive statistics for participant characteristics and intraclass correlation coefficients (ICCs) to assess reliability. RESULTS: The agreement between ratings on photographs and physical exam was greater than 80 % for all 15 categories included in the analysis. The ICC estimates were higher than 0.6 for most features. Features with the highest ICC included: presence of epibulbar dermoids, ear abnormalities, and colobomas (ICC 0.85, 0.81, and 0.80, respectively). Orbital size, presence of pits, tongue abnormalities, and strabismus had the lowest ICC, values (0.17 or less). There was not a strong tendency for either type of rating, physical exam or photograph, to be more likely to designate a feature as abnormal. The agreement between photographs and physical exam regarding the presence of a prior surgery was greater than 90 % for most features. CONCLUSIONS: Our results suggest that categorization of facial phenotype in children with CFM based on photographs is reliable relative to physical examination for most facial features.

Three-dimensional CT evaluation of oculoauriculovertebral spectrum patients use of Katsumata's asymmetry index.

OBJECTIVES: To evaluate patients with oculoauriculovertebral spectrum (OAVS) malformations based on Katsumata's asymmetry index and to assess the usefulness of the scores thus obtained in identifying degrees and sites of asymmetry. METHODS: Multislice spiral computed tomography (MSCT) datasets of 8 female and 12 male OAVS patients aged 5.7-23.9 years were retrospectively analyzed. After three-dimensional reconstruction, central and bilateral anatomical landmarks were identified within a coordinate system defined by the sella, nasion, and dens axis. MSCT datasets of 20 clinically symmetrical patients were used to define the cutoff values for asymmetry. Based on the mean asymmetry scores and their standard deviations, the severities and sites of asymmetry were evaluated and processed for visual presentation in charts. RESULTS: Both interrater (ICC 0.7070-0.9984) and intrarater (FVU 0.0014-0.2930) reliability was very high. The calculated asymmetry scores added up to mean values and standard deviations that were higher by factors of around 1.5-2.5 than reported by Katsumata et al. More anatomical landmarks were rated as asymmetric in OAVS patients showing unilateral agenesis of an external acoustic pore than in OAVS patients without such agenesis: in the former patients, statistically significant asymmetries compared to the control group were present at the L1M (coronal pulp cavity of the lower first molar), CoP (coronoid process), and Co (condylion superius) landmarks, whereas the latter group showed such significant asymmetries at the CoP and Co landmarks. Likewise, more patients with unilateral agenesis showed asymmetries at the level of the maxilla. Highly variable severities of asymmetry were found in both subgroups of OAVS patients. CONCLUSION: Katsumata's asymmetry index can yield well-structured and illustrative views of landmark distribution, thus, suitably allowing for qualitative asymmetry evaluation of OAVS cases and identification of the skeletal regions involved.

Anatomical study of the course of the inferior alveolar nerve in craniofacial microsomia using three-dimensional computed tomography: correlation with the Pruzansky classification.

Dysmorphogenesis of the mandible complicates assessment of the course of the inferior alveolar nerve in patients with craniofacial microsomia. Our aim in the present study was to correlate the anatomical description of the course with the Pruzansky classification (which indicates the severity of hemifacial microsomia), in the mandibles of 22 affected patients using 3-dimensional computed tomography (CT). We measured the distance between fixed landmarks on the normal and the microsomic sides. The normal sides served as controls. In the group of five patients with type I disease, we found no significant differences between the unaffected and the microsomic side. In the nine patients with Pruzansky type II disease morphological views of the course showed a between-side difference in the length of the bony canal and the height of the mandibular ramus. In the five patients with Pruzansky type III disease, there was no bony canal. Three-dimensional CT analysis may be of value in plotting the course of the inferior alveolar nerve and assisting the surgeon in mandibular osteotomy or distraction osteogenesis.

Cranial base deviation in hemifacial microsomia by craniometric analysis.

Although facial asymmetry in hemifacial microsomia (HFM) is well documented in the literature, no studies have concentrated on the morphology of the cranial base. This study aimed to evaluate the endocranial morphology in patients with HFM. Consecutive patients with unilateral HFM treated at a craniofacial center from 2000 to 2012 were included. The patients were grouped according to severity on the basis of the Kaban-Pruzansky classification: mild (0-1), moderate (2a), and severe (2b-3). Skull base angulation and transverse craniometric measures were recorded and then compared with those of age-matched controls. A total of 30 patients (14 males, 16 females) averaging 7.5 years of age (range, 1.1-15.7 y) were included. Four patients were classified as mild; 12, as moderate; and 14, as severe. The mean cranial base angle was found to be between 179 and 181 degrees with no significant difference between the severity groups (P = 0.57). The mean cranial base angle did not differ significantly in the patients compared with the controls(179.6 vs 180.0; P = 0.51) No significant differences between the affected and unaffected sides in the patients were found in distances from the midline to hypoglossal canal, internal acoustic meatus, lateral carotid canal, medial carotid canal, foramen ovale, and rotundum. There were no significant differences in transverse measurements between the severity classes using the same landmarks (P = 0.46, P = 0.30, P = 0.40, P = 0.25, P = 0.57, and P = 0.76, respectively). The cranial base axis is not deviated in the patients with HFM compared with the age-matched controls, and there exists little difference in endocranial morphologic measurements with increasing severity of HFM. These data are interesting, given the role of the cranial base in facial growth and the varying hypotheses regarding the mechanism of disease in HFM.

Costochondral grafting in craniofacial microsomia.

BACKGROUND: Craniofacial microsomia encompasses a spectrum of diagnoses associated with variable degrees of mandibular hypoplasia, facial asymmetry, chin deviation, occlusal abnormalities, and potential airway compromise. This study presents one surgeon's experience with costochondral rib grafting for mandibular reconstruction in children with Pruzansky/Kaban type 2B and type 3 mandibular hypoplasia. METHODS: An institutional review board-approved retrospective chart review was performed of all patients with craniofacial microsomia who underwent costochondral rib grafting for mandibular reconstruction performed by the senior author (S.P.B.) at The Children's Hospital of Philadelphia from January of 1998 to September of 2013. Demographic information, surgical history, operative details, postoperative complications, and outcomes were recorded. Plain radiographs and preoperative and postoperative three-dimensional computed tomographic scans were reviewed. RESULTS: Two hundred fifty-five patients were diagnosed with craniofacial microsomia, and 22 patients met inclusion criteria. Twelve boys and 10 girls underwent grafting at an average age of 7.2 years. Thirty-three costochondral rib grafts were performed, 11 unilateral reconstructions and 11 bilateral reconstructions. Twelve hemimandibles were type 2B and 21 were type 3. No intraoperative complications were reported, and no incidence of graft resorption was noted. No additional procedures were required in 27 reconstructed hemimandibles (81.8 percent), whereas six (18.2 percent) required secondary distraction osteogenesis. Only one patient developed postoperative ankylosis. No malunion or nonunion was noted. CONCLUSION: The approach described in this article allowed the authors to obtain reliably good results with costochondral rib grafting for type 2B and type 3 mandibular hypoplasia associated with craniofacial microsomia. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Clarifying the relationships among the different features of the OMENS+ classification in craniofacial microsomia.

BACKGROUND: The OMENS+ classification is commonly used to describe the phenotypically diverse craniofacial features of craniofacial microsomia. The purpose of this study was to evaluate associations among the individual components of the OMENS+ criteria. METHODS: An institutional review board-approved retrospective chart review was performed for patients who presented with a diagnosis of unilateral or bilateral craniofacial microsomia to the craniofacial clinic from January of 1990 to December of 2012. Demographic, diagnosis, classification, treatment, and radiographic data were abstracted for all patients who met inclusion criteria. Associations and correlations were evaluated using the Spearman rank test and a logistic regression model. RESULTS: One hundred five patients (61 male and 44 female) with craniofacial microsomia met inclusion criteria. Eighty-one patients (77.1 percent) had unilateral microsomia and 24 (22.9 percent) had bilateral microsomia. Twenty-eight patients (26.7 percent) had macrostomia. Correlations were all significantly interrelated (p = 0.000 to p = 00.018) between the degree of orbital, mandibular, and soft-tissue deformities. Moreover, the severity of ear deformity and facial nerve involvement were also significantly correlated (p = 0.008). Between these two groupings, there was a significant correlation between soft-tissue deficiency and nerve involvement (p = 0.010). Macrostomia was associated with the individual components of the group orbit (p = 0.008), mandible (p = 0.000), and soft tissue (p = 0.005). CONCLUSIONS: The association between structures using the OMENS+ classification may be caused by their branchial arch origin. Structures mainly developed from the first branchial arch (orbit, mandible, and soft tissue) are associated in degree of severity, as are the structures mainly derived from the second branchial arch (facial nerve and ear). CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.

Maxillary involvement in hemifacial microsomia: an objective three-dimensional analysis of the craniofacial skeleton.

The aim of our study is to better understand the maxillary involvement in relation to the mandibular deformation in hemifacial microsomia (HFM). To do so, consecutive patients with HFM treated at The Children's Hospital of Philadelphia from 2000 to 2012 were included in our study. Both two-dimensional and three-dimensional analyses of the bony and sinus structures of the midface and mandible were performed using three-dimensional segmentation software. Patients were stratified into groups based on the Kaban-Pruzansky classification--mild (0-1), moderate (2A), and severe (2B-3)--as well as rank ordering based on overall severity. Analyses involved paired t-tests within severity groups, 1-way analysis of variance when assessing across groups (ipsilateral/contralateral ratio), and regression to assess for trends. Thirty patients were included (4 mild, 12 moderate, and 14 severe). The mandibular volume ratio differed across all patient groups (P < 0.001) and trended with rank order (P < 0.001). No significant difference in maxillary bony volume ratio was found across all patient groups (P = 0.16). In patients with severe disease, the maxillary bone volume was found to be significantly decreased on the ipsilateral side as compared with the contralateral side (P = 0.0123). There was no difference in maxillary sinus volume between ipsilateral and contralateral sides within any patient groups or in comparing across groups (P = 0.10). No significant trend was found in the volume ratio of mandible and maxilla (P = 0.41). To conclude, the maxillary sinus seems to show no difference in volume when comparing between laterality and severity groupings. These findings suggest that there may be alternative influences other than the vascular insult acting as the driving force behind the mandibular deformity and the additional classic clinical findings of HFM.

Three-dimensional longitudinal changes in craniofacial growth in untreated hemifacial microsomia patients with cone-beam computed tomography.

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.

The mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification.

BACKGROUND: The authors examined hemifacial microsomia using three-dimensional computed tomography and the Kaban modification of the Pruzansky classification to determine its relationship with traditional evaluation and its reproducibility among evaluators. METHODS: A retrospective review of all patients diagnosed with hemifacial microsomia was performed. Three-dimensional computed tomographic scans were reviewed by expert evaluators and rated according to evaluators' understanding of the Kaban modification of the Pruzansky classification. The clinical Kaban-Pruzansky score was recorded at the time of initial clinical presentation and an in-house score stratified the population into mild (0-I), moderate (IIA), and severe (IIB-III). These two standards and the evaluators' scores were compared. Fleiss's kappa was used to assess interrater variability (p < 0.05). RESULTS: Forty-one patients met inclusion criteria, and 38 had documented clinical Kaban-Pruzansky scores. Sixteen craniofacial surgeons with an average of 15.5 years (range, 6 to 38 years) of experience were surveyed. Fair interrater reproducibility was found among all expert evaluators (Fleiss ĸ = 0.238). When comparing raters' three-dimensional computed tomography-based classification to the clinical Kaban-Pruzansky scores, the average agreement was 39.17 ± 8.83 percent (average ĸ = 0.257 ± 0.147) (p = 0.90). When comparing raters' classification to the in-house score, the average agreement was 69.71 ± 9.42 percent (p = 0.97) (average ĸ = 0.576 ± 0.140). CONCLUSIONS: The introduction of three-dimensional computed tomography into the diagnostic paradigm highlights the inaccuracy and variability of traditional classification systems. The results question the accuracy and reproducibility of the current clinical paradigm, suggesting the need to reexamine the classification of hemifacial microsomia. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, III.

Statistical analysis using the OMENS classification in Oriental patients with hemifacial microsomia: a comparative analysis with Western centers.

The purpose of this study was to analyze the statistical association between variable clinical phenotypes of the orbit, mandible, ear, nerve, soft tissue (OMENS) classification system in Oriental patients with hemifacial microsomia (HFM) and compare the data of Oriental children with data from other Western centers. One hundred consecutive patients with HFM referred to the Seoul National University Children Hospital were chosen between March 2009 and April 2010. They were classified according to the OMENS classification system, and statistical analyses were performed. The total OMENS scores were correlated significantly with all 5 component scores. In comparison with the previous data of Western centers, the orbit and ear components had statistically higher severity. Our retrospective study in Oriental children demonstrated that the pathophysiology of HFM is a complex process and that the components of HFM have a close relationship. For the ethnic difference, further etiologic studies on the molecular basis are required.

Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects.

As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

Oculo-auriculo-vertebral spectrum (OMIM164210) is a phenotypically and probably also a genetically heterogeneous disorder, characterized by anomalies of the ear (mostly microtia), hemifacial microsomia, and defects of the vertebral column. Associated clinical findings include anomalies of the eye and brain, and developmental delay. We have evaluated the clinical data and photographs of 53 unrelated patients with OAVS, all presenting with either isolated microtia or preauricular tags in association with hemifacial microsomia as minimal diagnostic criteria; five had a positive family history for OAVS. Based on the main clinical findings and unilateral or bilateral involvement, we have developed a new classification system for OAVS, consisting of six subgroups. There is a statistically significant correlation between the subgroup and number of associated clinical findings, and a statistically significant difference regarding prognosis in uni- and bilaterally affected patients, suggesting that this classification is clinically relevant to the categorization of patients with OAVS. The newly developed scoring system (two points for each main clinical finding and one for each associated clinical finding) presented here, also aids prognosis, especially for delay of motor development and brain anomalies, and statistical analysis revealed significant clustering between different clinical findings of OAVS confirming the clinical impression previously published by several authors.

Congenital mandibular hypoplasia: analysis and classification.

Mandibular hypoplasia is a frequently encountered craniofacial difference and can be classified into three groups: congenital, developmental, and acquired. The focus of this article is on the congenital group, the majority of which is associated with syndromes. There have been numerous publications on patients with syndromic congenital mandibular hypoplasia; however, there has been no investigation and differentiation of the "nonsyndromic" patients. The purpose of this study was to analyze this subgroup of patients with nonsyndromic congenital mandibular hypoplasia to determine incidence, clinical presentation, and treatment.A retrospective analysis of all children treated for congenital mandibular hypoplasia at the Children's Hospital of Philadelphia between 1975 and 2003 was performed. Two hundred sixty-six patients were identified during this 27-year period. Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous syndromes. The remaining 18 patients were identified as having congenital mandibular hypoplasia without any known syndrome. Of the 18 patients with nonsyndromic congenital mandibular hypoplasia, 17 had primary bilateral growth anomalies and 1 had a primary unilateral growth disturbance resulting in bilateral deformity. Seven patients were products of a complicated pregnancy, 10 patients required tracheotomy or prolonged intubations, and 7 required gastric tube feedings. Associated anomalies included temporomandibular joint ankylosis in five patients, aglossia/microglossia in three patients, and rare craniofacial clefts in three patients. The average number of procedures required to treat the mandibular deformity for each patient was six. Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup. Case reports illustrating the range of mandibular deformities are presented.