Computed tomography assessment of hypodontia and crown size in hemifacial microsomia.

OBJECTIVE: Our aims were to assess the prevalence of hypodontia in unilateral hemifacial microsomia (HFM), and to compare tooth (crown) size between affected and unaffected sides. DESIGN: In a retrospective cross-sectional study of South Australians, computed tomography (CT) scans were used to assess hypodontia and crown size (mesiodistal length, buccolingual width and crown height). The inclusion criteria were the absence of other congenital anomalies and the availability of CT scans. The exclusion criteria were the lack of extraction history or reproducible landmarks for morphometric assessment. The final sample comprised 41 participants in both dentitions, including 32 children and 9 adults (median age 13.9 years, range 0.4 - 47.6 years; 19 males and 22 females). Hypodontia was assessed in all participants, and the permanent crown size in 30 (73.2%) participants. Linear mixed-effects models were performed to determine if crown size was significantly different between the two sides, controlling for sex, HFM severity, and tooth and jaw type. RESULTS: Hypodontia occurred in none of the participants in the primary dentition, but in 6/30 (20%) participants in the permanent dentition (3/30 each on the affected and unaffected sides). There was no significant difference in the mean crown dimensions between the two sides, but the crown size was larger in males (p < 0.05), except for mesiodistal length, and became progressively smaller with increased HFM severity (p < 0.05). CONCLUSIONS: Hypodontia spared the primary dentition but featured prominently in the permanent dentition. The permanent crown dimensions were unaltered between the two sides.

Craniofacial microsomia - more than a structural malformation.

OBJECTIVES: To analyse the prevalence and distribution of craniofacial microsomia (CFM) cases in Finland and their most frequent comorbidities. The second aim was to analyse the patients' need for specialized healthcare services. MATERIALS AND METHODS: Data were gathered from two complementary registers: The Register of Congenital Malformations and the Care Register for Social Welfare and Health Care (Hilmo) of the Finnish Institute for Health and Welfare (THL). RESULTS: The prevalence of CFM patients in Finland was 1:10 057. They were evenly distributed across the five university hospital districts. Their most frequently used ICD-10 diagnosis codes were F40-48 (Neurotic, stress-related and somatoform disorders), 60% of patients in adolescent and adult psychiatry; Q67.0 (Facial asymmetry), 43% in plastic surgery; Z00.4 (General psychiatric examination, not elsewhere classified), 31% in child psychiatry; Z31.5 (Genetic counselling), 28% in clinical genetics and Q67.40 (Other congenital deformities of the skull, face and jaw, Hemifacial atrophy), 18% in dental, oral and maxillofacial diseases. Of the patients, 70% had had visits in clinical genetics, 60% in plastic surgery, 41% in dental, oral and maxillofacial diseases, 28% in adolescent/adult psychiatry and 21% in child psychiatry. The majority of the patients' plastic surgery visits were concentrated in one university hospital. Other services were mainly provided by patients' own hospital districts. CONCLUSIONS: Even though the majority of CFM patients' visits in specialized healthcare services are related to correction of facial asymmetry and ear malformations, the obvious need for psychiatric care was apparent in all age groups.

Community participation in youth with craniofacial microsomia.

PURPOSE: To examine differences in community participation and environmental support for youth with and without craniofacial microsomia. METHODS: This study involved secondary analyses of a subset of data (n = 396) from a longitudinal cohort study. Multiple linear and Poisson regression analyses and Wilcoxon Mann-Whitney tests were used to estimate differences in community participation and environmental support between youth with craniofacial microsomia and youth without craniofacial microsomia, stratified based on their history of education and health-related service use. Chi-square analyses were used to explore item-level group differences in change desired across community activities. RESULTS: Statistically significant differences were found in community participation frequency (ES = -0.52; p < 0.001), level of involvement (r = -0.16; p = 0.010), and desire for change in participation when comparing youth with craniofacial microsomia and non-affected peers not receiving services (p < 0.001). There were no statistically significant differences between youth with craniofacial microsomia and non-affected peers receiving services. CONCLUSIONS: Results suggest lower community participation in youth with craniofacial microsomia as compared to non-affected peers not receiving services. This may suggest opportunities for designing and testing interventions to promote community participation among youth with craniofacial microsomia, so as to support their transition to adulthood.Implications for rehabilitationYouth with craniofacial microsomia may have unmet rehabilitation needs related to their community participation.Rehabilitation professionals should pay attention to participation of youth with craniofacial microsomia in activities that place a higher demand on involvement with others.Rehabilitation professionals should appraise participation frequency and involvement of youths with craniofacial microsomia to gain accurate insight into their current community participation.

Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.

This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single protocol. Genetic abnormalities were searched through karyotype and chromosomal microarray analysis. Sex ratio, prenatal risk factors, and recurrence rate corroborated the literature. Despite the wide variability of clinical findings, ear disruption was universal. Eight patients were assigned as syndromic, four of whom had demonstrable genetic alterations. The majority of patients (67.2%) fulfilled four known diagnostic criteria, while 9.8% fulfilled one of them. Data strengthened disruptions of the ear and deafness as a semiotically valuable sign in CFM. Facial impairment should consider asymmetry as a mild expression of microsomia. Spinal and cardiac anomalies, microcephaly, and developmental delay were prevalent among extra craniofacial features and should be screened before planning treatment and follow up. The severity index was able to recognize the less and the most affected patients. However, it was not useful to support therapeutic decisions and prognosis in the clinical scenario due to syndromic and non-syndromic phenotypes overlapping. These issues make contemporary the debate on diagnostic methods and disease severity assessment for CFM. They also impact care and etiopathogenetic studies.

Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis.

Craniofacial microsomia (CFM, OMIM%164 210) is one of the most common congenital facial abnormalities worldwide, but it's genetic risk factors and environmental threats are poorly investigated, as well as their interaction, making the diagnosis and prenatal screening of CFM impossible. We perform a comprehensive association study on the largest CFM cohort of 6074 samples. We identify 15 significant (P < 5 × 10-8) associated genomic loci (including eight previously reported) and decipher 107 candidates based on multi-omics data. Gene Ontology term enrichment found that these candidates are mainly enriched in neural crest cell (NCC) development and hypoxic environment. Single-cell RNA-seq data of mouse embryo demonstrate that nine of them show dramatic expression change during early cranial NCC development whose dysplasia is involved in pathogeny of CFM. Furthermore, we construct a well-performed CFM risk-predicting model based on polygenic risk score (PRS) method and estimate seven environmental risk factors that interacting with PRS. Single-nucleotide polymorphism-based PRS is significantly associated with CFM [P = 7.22 × 10-58, odds ratio = 3.15, 95% confidence interval (CI) 2.74-3.63], and the top fifth percentile has a 6.8-fold CFM risk comparing with the 10th percentile. Father's smoking increases CFM risk as evidenced by interaction parameter of -0.324 (95% CI -0.578 to -0.070, P = 0.011) with PRS. In conclusion, the newly identified risk loci will significantly improve our understandings of genetics contribution to CFM. The risk prediction model is promising for CFM prediction, and father's smoking is a key environmental risk factor for CFM through interacting with genetic factors.

A Qualitative Assessment of Bone Mineral Density in Individuals With Hemifacial Microsomia: A Cone-Beam Computed Tomography Study.

OBJECTIVE: The purpose of this study is to utilize cone-beam computed tomography (CBCT) to compare the bone mineral density (BMD) on the affected versus nonaffected side, among individuals with hemifacial microsomia (HFM). METHODS: This retrospective study included 9 patients with HFM. Pretreatment CBCT volumes were imported into Invivo5 software, which was used to measure BMD through Hounsfield units (HU) in 3 regions of the mandible; inferior to the lower lateral incisors, inferior to the first molar and at the ramus inferior to the sigmoid notch. Each region was measured at the buccal cortical bone, lingual cortical bone, and cancellous bone. The densities on the right and left sides were compared by Wilcoxon signed-rank test. RESULTS: Overall, the BMD on the affected side tended to show slightly lower values when compared with the nonaffected side. Differences ranged from 14 HU at the lingual cortical plate of the first molar region to 234 HU at the buccal cortical plate of the ramus region. Differences were only statistically significant at the ramus region for the buccal (P = .002) and lingual (P < .001) cortical plates and at the lower incisor region at the buccal cortical plate (P = .016) and cancellous bone (P = .044). The differences, however, did not seem to be clinically significant. CONCLUSIONS: The current study shows that the quality of bone on the affected side may be slightly reduced but did not seem to be clinically significant. This should be accounted for during surgical and orthodontic planning for patients with HFM.

Cost-Effectiveness Analysis, Psychosocial, and Utility Outcomes of Early Mandibular Distraction in Craniofacial Microsomia.

BACKGROUND: The cost-effectiveness, utility outcomes, and most optimal timing of mandibular distraction osteogenesis (MDO) in craniofacial microsomia (CFM) continue to be a topic of debate, especially in the population of patients with mild or nonsignificant functional issues. The objective of this study was to quantitatively assess the burden of mandibular asymmetry in CFM, and to accurately evaluate the impact of early MDO on patients' perceived quality of life and social acceptance, in addition to examining the cost-effectiveness of early MDO in CFM. METHODS: A validated crowdsourcing platform was utilized to recruit participants. Psychosocial acceptance and utility outcomes were assessed for patients with CFM. Participants were presented with health-state scenarios supplemented with pre- and postoperative images. Quality-adjusted life years (QALYs) were subsequently calculated and costs were estimated based on Medicare fee schedules using the Current Procedural Terminology codes. Incremental cost-effectiveness ratios for early MDO were calculated and plotted against a $100,000/QALY threshold. RESULTS:: A total of 463 participants were included in the study. The mean visual analog scale score for untreated mandibular hypoplasia in CFM was 0.48 ±â€Š0.24, which improved significantly (P < 0.0001) to 0.63 ±â€Š0.20 following early MDO. Time trade-off scores for an imaginary surgery leading to perfect health with no complications were not statistically different from undergoing early MDO (P = 0.113). Early mandibular distraction decreased social distance in all 8 social situations assessed. Incremental cost-effectiveness ratios varied by the duration of time between early MDO and a potential second intervention, ranging from $148,142.09 per QALY gained at an interval of 1 year to $9876.14 per QALY gained after 15 years. Using a willingness-to-pay threshold of $100,000/QALY, early MDO in CFM becomes cost-effective when patients enjoy an improved health-state post-MDO for more than 1.48 years before a potential second intervention, if deemed necessary. CONCLUSION: Early mandibular distraction may lead to tangible positive gains in CFM patients based on utility outcome scores, psychosocial acceptance, and social distance. Therefore, although further interventions may be needed at skeletal maturity, early MDO can improve the psychological well-being of CFM patients during their crucial developmental years in a cost-effective manner. The incremental cost per QALY gained post-early MDO correlates negatively with time until a second potential surgical intervention.

In Their Own Words: Caregiver and Patient Perspectives on Stressors, Resources, and Recommendations in Craniofacial Microsomia Care.

This study describes stressors, resources, and recommendations related to craniofacial microsomia (CFM) care from the perspective of caregivers of children with CFM and adults with CFM to inform improved quality of healthcare delivery. A mixed method design was used with fixed-response and open-ended questions from an online survey in English. The survey included demographics, CFM phenotypic information, and items about CFM-related experiences across settings. Themes were identified by qualitative analysis of responses to open-ended questions. Respondents (n = 51) included caregivers (n = 42; 90% mothers) and adults with CFM (n = 9; 78% female), who had a mean age of 45 ±â€Š6 years. Most children were male (71%) with an average age of 7 ±â€Š4 years. Respondents were primarily white (80%), non-Hispanic (89%), from the United States (82%), had a college degree (80%), and had private health insurance (80%). Reflecting the high rate of microtia (84%) in the sample, themes centered on the impact of hearing difficulties across settings with related language concerns. Negative social experiences were frequently described and school needs outlined. Multiple medical stressors were identified and corresponding suggestions included: providers need to be better informed about CFM, treatment coordination among specialists, and preference for a family-centered approach with reassurance, empathy, and clear communication. Advice offered to others with CFM included positive coping strategies. Overall, caregivers' and patients' responses reflected the complexity of CFM treatment. Incorporating these perspectives into routine CFM care has the potential to reduce family distress while improving their healthcare.

Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment.

PURPOSE: Goldenhar syndrome consists of a combination of unilateral auricular appendages, auricular fistulas, and ocular epibulbar dermoids combined with a unilateral underdevelopment of the craniofacial structures and vertebral abnormalities. We aimed to elicit the underlying spine pathology in a group of patients via tomographic assessment. MATERIALS AND METHODS: Hemifacial microsomia, cranial asymmetry, multiple ear tags, skin tags around the mouth and microtia were the most prominent facial features encountered in six patients with Goldenhar syndrome. Torticollis and cervico-thoracic scoliosis were the major deformities encountered in all patients. Thoraco-lumbar scoliosis and kyphoscoliosis were of lesser occurrence. Tomographic studies have been applied to all patients to delineate the underlying pathology. RESULTS: Diverse spectrum of distinctive spine anomalies has been identified. Malsegmentation of the skull base associated with diffuse fusion with the upper cervical vertebrae was the most common spine pathology. Bilateral failure of segmentation, unilateral unsegmented bar and failure of vertebral formation were of lesser occurrence. Strikingly, we observed that the side of the hemifacial microsomia is strongly correlated with that of the craniocervical and the cervical vertebral abnormalities. CONCLUSION: The importance of this paper is threefold; first, little information is available in the literature regarding the magnitude and the diversity of spine pathology in patients with Goldenhar syndrome. Second, is to alert spine specialists that conventional radiographic assessment of the craniocervical area is an insufficient modality to assess children with syndromic associations. Third, a rotation and flexion deformity of the neck associated with facial asymmetry and/or plagiocephaly should be considered as a syndromic entity rather than a simple physiological deformation.

Comparison of two-dimensional and three-dimensional images for phenotypic assessment of craniofacial microsomia.

Background and Purpose : Three-dimensional surface imaging is used in many craniofacial centers. However, few data exist to indicate whether such systems justify their cost. Craniofacial microsomia is associated with wide phenotypic variability and can affect most facial features. The purpose of this study is to compare three-dimensional versus two-dimensional images for classification of facial features in individuals with craniofacial microsomia. Methods : We obtained a series of two-dimensional and three-dimensional images of 50 participants, aged 0-20 years, diagnosed with craniofacial microsomia, microtia, or Goldenhar syndrome. Three clinicians classified the craniofacial features on each image, and ratings were compared by calculating kappa statistics. We also evaluated image quality using a 5-point Likert scale. Results : Reliability estimates were high for most features using both two-dimensional and three-dimensional image data. Our three-dimensional protocol did not allow for scoring of facial animation, occlusal cant, or tongue anomalies. Image quality scores for the mandible and soft tissue assessment were higher for three-dimensional images. Raters preferred two-dimensional photographs for assessment of the ear, ear canal, and eyes. Conclusions : Both three-dimensional and two-dimensional images provide useful data for objective characterization of the craniofacial features affected in craniofacial microsomia. A series of two-dimensional images has relative advantages for assessment of some specific features, such as the ear, though three-dimensional images may have advantages for quantitative analysis and qualitative assessment of deformities of the jaw and soft tissue. These results should apply to any assessment of these features with or without a craniofacial microsomia diagnosis.

A CT scan technique for quantitative volumetric assessment of the mandible after distraction osteogenesis.

Distraction osteogenesis has become an accepted method of treatment for patients requiring reconstruction of hypoplastic mandibles. We present a quantitative analysis of volumetric changes after distraction osteogenesis in a series of 10 patients. Group I (n = 5 patients, 3 unilateral craniofacial microsomia, 1 Goldenhaar syndrome, and 1 bilateral craniofacial microsomia) underwent unilateral distraction of the mandible. Group II (n = 5 patients, 1 Nager syndrome, 1 bilateral craniofacial microsomia, 1 developmental micrognathia, and 2 Treacher Collins syndrome) underwent bilateral distraction of the mandible. Predistraction and postdistraction axial and three-dimensional computed tomographic (CT) scans were digitized and transferred to a computer for analysis with image-processing software to determine the changes in volume of the mandible and bony regenerate. The CT-derived volume method was validated by scanning three dry cadaver mandible specimens and comparing the volume data with those derived from a water-displacement method. The difference between the two methods was less than 5 percent. The mean distracted length, as recorded from the calibrated device, was 22.6 mm in the 10 patients. In the unilateral distraction group, the mean increase in hemimandibular bone volume was 2.8 cc, with a mean percentage increase of 27 percent in the distracted hemimandible. In the bilaterally distracted patients, the mean increase in total mandibular volume was 7.9 cc, with a mean percentage increase in bone volume of 25 percent. This study represents the first attempt to quantify the increase in bone volume resulting from distraction osteogenesis. Quantitative volumetric analysis of CT scans is an accurate method to measure the amount of bone regenerate in patients undergoing distraction osteogenesis of the mandible or the extremities. The concept and utility of quantifying the volumetric changes in bone following distraction osteogenesis may become more important as multiplanar devices are developed and used in other areas of the craniofacial skeleton.

Rural home care of a technology-dependent infant.

A multidisciplinary approach is necessary to prepare for home care of technology-dependent infants. The environment must protect, support, and promote the physical, cognitive, and social growth and development of these infants. Parents and caregivers of technology-dependent infants should be taught cardiopulmonary resuscitation and should be helped to develop a plan for obtaining emergency medical assistance.

Respiratory inductance plethysmography and pulse oximetry in the assessment of upper airway patency in a child with Goldenhar's syndrome.

The anaesthetic management of a child with Goldenhar's syndrome and upper airway dysmorphology is presented. She had a history of severe dyspnoea due to deterioration of cor pulmonale caused by upper airway obstruction. The patency of the upper airway and oxygenation were evaluated during the perioperative period with respiratory inductive plethysmography (RIP) and pulse oximetry, which did not show severe upper airway obstruction or oxygen saturation below 80 per cent. Tracheal intubation was performed under inhalational anaesthesia with spontaneous breathing. This case suggests that RIP and pulse oximetry may be useful monitoring devices in the anaesthetic management of patients with upper airway problems as in Goldenhar's syndrome.