OBJECTIVE: To compare the facial asymmetry after bimaxillary surgery between mild craniofacial microsomia (CFM) and non-syndromic class II asymmetry.
METHODS: Cone-beam computed tomography scans of adults with Pruzansky-Kaban types I and IIA CFM (CFM groups, n = 20), non-syndromic skeletal class II asymmetry (Class II group, n = 20), and normal controls (control group, n = 20) were compared. The area asymmetry of lower face and jaw bones was quantified. Landmark-based method was used to evaluate the lower facial asymmetry regarding midline, cants, and contour.
RESULTS: There were no significant postoperative differences in the hemi-facial and hemi-jaw area asymmetry between CFM and Class II groups, both of which were significantly larger than the control group. No significant difference was found in the midline deviation and lip and occlusal cants between CFM and Class II groups. The vertical contour asymmetry in CFM group became significantly larger than Class II group. Compared to the control group, the deviation of pronasale, subnasale, and soft-tissue menton, lip and occlusal cants, and sagittal and vertical contour asymmetry in CFM group were significantly larger, as were the deviation of subnasale and soft-tissue menton and vertical contour asymmetry in Class II group.
CONCLUSIONS: The vertical contour asymmetry of mild CFM was significantly larger than non-CFM class II after surgery, while the area asymmetry, midline deviation, cants, and sagittal contour asymmetry of lower face showed no significant difference.
CONCLUSIONS: Be aware that correcting vertical asymmetry of contour, lip, and dentition in CFM is still challenging.

OBJECTIVE: Patients with type IIA craniofacial microsomia (CFM) may benefit from mandibular distraction osteogenesis (MDO) treatment during childhood; however, remodelling of the mandible during the consolidation phase, which may affect the short-term outcomes of MDO, has not yet been quantitatively analysed using computed tomography. Therefore, we aimed to investigate bone remodelling of the mandible in children with type IIA CFM treated with MDO before distractor removal and the factors that influence ramus vertical elongation efficiency.
METHODS: Twenty-three children with unilateral CFM were studied between 2020 and 2024. Longitudinal computed tomography data (preoperative, end of active phase and at pre-distractor removal) were analysed. Condyle positions and the mandibular cant were analysed using a paired-sample t test. The relapse rates of vertical lengthening and mandibular cant were calculated. The correlation between distraction efficiency and preoperative craniofacial morphology was analysed.
RESULTS: The condyle on the affected side moved upwards and backwards by 28.84 ± 4.08 and 2.85 ± 4.33 mm, respectively during the active phase but lost 7.66 ± 2.64 mm of vertical extension during the consolidation phase. The relapse rates for vertical extension of the condyle and occlusal plane were 27% and 35%, respectively. The ratio of mandibular ramus height was positively related to EV.
CONCLUSIONS: In children with CFM, attention should be paid to vertical elongation instability and relapse of mandibular inclination during consolidation. Severe mandibular ramus hypoplasia is a preoperative risk factor for vertical skeletal relapse during consolidation. Further efforts are required to reduce the stress that leads to relapse.

OBJECTIVE: Craniofacial microsomia (CFM) is a congenital condition that can be associated with feeding challenges in infants. As part of the larger \'Craniofacial microsomia: Accelerating Research and Education (CARE)\' program, this study described caregivers\' early feeding experiences.
METHODS: US-based caregivers of 34 children with CFM participated in remote narrative interviews. Two authors completed inductive thematic analysis in an iterative process until consensus was reached.
RESULTS: Caregivers\' narratives outlined the inherent challenges of feeding an infant with special healthcare needs. The first theme \'Navigating Challenges and Managing Expectations\' describes the distress participants experienced when they were unable to breastfeed and the negative emotional effect of switching to formula. The second theme \'Making Adaptations\' outlines the methods participants tried, including breast pumps and feeding tubes. The third theme \'Accessing Support\' describes participants\' interactions with healthcare providers and challenges accessing feeding support. The final theme \'Growing from Adversity\' recounts participants\' relief once their child established a feeding pattern and the personal growth gained from their experiences.
CONCLUSIONS: Caregivers reported several feeding related challenges associated with CFM, many of which negatively affected their wellbeing. Negative consequences were particularly pronounced in cases where caregivers\' feeding experiences differed from their expectations. Participants identified challenges in accessing reliable feeding information and support. Despite difficult experiences, caregivers cited some positive outcomes, including increased confidence and resilience.
CONCLUSIONS: Holistic feeding information and support for families affected by CFM should be inclusive of several feeding methods to improve care delivery, child health, and the caregiver experience.

BACKGROUND: Craniofacial microsomia (CFM) and camel-hump condylo-mandibular dysplasia (CMD) are developmental disorders affecting the mandible that share common clinical features. This study aimed to investigate and compare the dental anomalies (DA) between the two entities for differential diagnosis and to propose appropriate treatment.
METHODS: This retrospective cross-sectional study was based on panoramic radiographs of patients diagnosed with CFM or CMD. DA were evaluated using the classification reported by Bilge. Delayed tooth eruption on the affected side was noted based on a comparison with the contralateral side. Nolla\'s stages of tooth calcification were used to assess dental development.
RESULTS: A total of 103 patients were included, 80 subjects (77.7 %) in CFM group and 23 patients (22.3 %) in CMD group. The prevalence of DA among CFM and CMD-affected patients were 80.0 % and 95.7 %, respectively. Tooth ectopia, tooth impaction, dental development delay, and delayed tooth eruption on the affected side exhibited a significant association with the two craniofacial malformations. The overall affected teeth (molars, premolars, canines) differed between the two craniofacial malformations. Dental abnormalities such as oligodontia, hyperdontia, dentin dysplasia, and anomalies of shape were seen only in subjects affected by CFM.
CONCLUSIONS: DA were widely observed in patients with CFM and CMD. The global distribution of affected teeth differed between the two conditions and some DA were detected only in CFM patients. When clinical diagnosis remains uncertain, some specific radiological characteristics of DA can be used to differentiate CFM from CMD.

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

OBJECTIVE: Children with craniofacial microsomia (CFM) have complex healthcare needs, resulting in evaluations and interventions from infancy onward. Yet, little is understood about families\' treatment experiences or the impact of CFM on caregivers\' well-being. To address this gap, the NIH-funded \'Craniofacial microsomia: Accelerating Research and Education (CARE)\' program sought to develop a conceptual thematic framework of caregiver adjustment to CFM.
METHODS: Caregivers reported on their child\'s medical and surgical history. Narrative interviews were conducted with US caregivers (n = 62) of children aged 3-17 years with CFM. Transcripts were inductively coded and final themes and subthemes were identified.
RESULTS: Components of the framework included: 1) Diagnostic Experiences, including pregnancy and birth, initial emotional responses, communication about the diagnosis by healthcare providers, and information-seeking behaviors; 2) Child Health and Healthcare Experiences, including feeding, the child\'s physical health, burden of care, medical decision-making, surgical experiences, and the perceived quality of care; 3) Child Development, including cognition and behavior, educational provision, social experiences, and emotional well-being; and 4) Family Functioning, including parental well-being, relationships, coping strategies, and personal growth. Participants also identified a series of \"high\" and \"low\" points throughout their journey and shared their priorities for future research.
CONCLUSIONS: Narrative interviews provided rich insight into caregivers\' experiences of having a child with CFM and enabled the development of a conceptual thematic framework to guide clinical care and future research. Information gathered from this study demonstrates the need to incorporate evidence-based psychological support for families into the CFM pathway from birth onward.

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies. There were 11 cases ascertained with prenatal findings including facial anomalies: one each with left cleft lip, right microtia, and bilateral microphthalmia. Two cases had vertebral anomalies. In addition, anomalies of the kidneys, brain, heart, and radial ray were identified. Six (55%) had a single umbilical artery, five (45%) were small for gestational age, and three (27%) were from a twin pregnancy that were discordant for anomalies. Four (36%) overlapped another proposed recurrent constellations of embryonic malformation condition. This study describes prenatal findings for 11 cases with CFM. Comparable to prior published cases, there were recurring anomalies on prenatal imaging, including anomalies of the brain, eye, heart, kidneys, and radial ray, which may aid in the prenatal diagnosis of CFM.

UNASSIGNED: The purpose of this mixed-methods study is to examine the role of caregiver strategies to support community participation among children and youth with disabilities and those at risk, from the caregiver perspective. For the quantitative phase, we tested the hypothesized positive effect of participation-focused caregiver strategies on the relationship(s) between participation-related constructs and community participation attendance and involvement. For the qualitative phase, we solicited caregiver perspectives to explain the quantitative findings.
UNASSIGNED: An explanatory sequential mixed-methods design (QUAN > qual) was used. For the quantitative phase, we conducted secondary analyses of data collected during a second follow-up phase of a longitudinal cohort study, including 260 families of children and youth (mean age: 13.5 years) with disabilities and those at risk [i.e., 120 families of children and youth with craniofacial microsomia (CFM); 140 families of children and youth with other types of childhood-onset disabilities]. Data were collected through the Participation and Environment Measure-Children and Youth, the Pediatric Quality of Life Inventory, and the Child Behavior Checklist and analyzed using structural equation modeling. For the qualitative phase, we conducted semi-structured interviews with eight caregivers of children and youth with disabilities and those at risk (i.e., three caregivers of children and youth with CFM; five caregivers of children and youth with other childhood-onset disabilities). Interviews were transcribed verbatim and inductively content-analyzed.
UNASSIGNED: Our model reached acceptable to close model fit [CFI = 0.952; RMSEA = 0.068 (90% CI = 0.054-0.082); SRMR = 0.055; TLI = 0.936], revealing no significant effect of the number of participation-focused caregiver strategies on the relationships between participation-related constructs (e.g., activity competence, environment/context) and community participation in terms of attendance and involvement. The qualitative findings revealed three main categories for how caregivers explained these quantitative results: (1) caregiver workload and supports needed for implementing strategies; (2) caregivers careful strategy quality appraisal; and (3) community setting characteristics hindering successful strategy implementation.
UNASSIGNED: The findings suggest that the insignificant effect of the number of caregiver strategies may be explained by the intensified need for caregiver effort and support to develop and implement quality strategies that are responsive to community setting characteristics.

To describe the early health care experiences of parents of children with craniofacial microsomia (CFM), a congenital diagnosis often identified at birth.
Qualitative descriptive.
Homes of participants.
Parents of 28 children with CFM from across the United States.
We interviewed participants (27 mothers individually and one mother and father together) via telephone or teleconference and used reflexive thematic analysis to derive themes that represented early health care experiences of parents of children with CFM.
Participants\' narratives included detailed recounting of their birth and early care experiences. We identified two overarching themes. The first overarching theme, Stressors, included four subthemes that represented difficulties related to emotional reactions and negative experiences with health care providers. The second overarching theme, Finding Strength, included four subthemes that represented participants\' positive adjustment to stressors through independent information seeking about CFM, adaptive coping, positive experiences with health care providers, and drawing on external supports.
Participants often described early experiences as challenging. Findings have implications for improving early care, including increasing open and supportive communication by health care professionals, expanding access to CFM information, screening for mental health concerns among parents, strengthening coping among parents, and linking families to resources such as reliable online CFM information and early intervention programs.

This study aims to compare the effects of mandibular distraction osteogenesis (MDO) and bone grafting on the facial symmetry of children with Pruzansky-Kaban type IIB and III craniofacial microsomia (CFM). Medical records and three-dimensional computed tomography (3D-CT) data of CFM patients who had primarily undergone MDO and bone grafting were collected. A retrospective analysis of pre-and post-operative 3D imaging data was conducted to compare the improvement rate in facial symmetry between the two groups based on occlusal cant, affected/unaffected ramus height ratio and chin point deviation. The data were tested for normality using the Shapiro-Wilk test. When the data followed a normal distribution, a paired sample t-test was employed for the comparison between preoperative and postoperative data. When the data did not follow a normal distribution, the Wilcoxon signed-rank test for paired samples was used for preoperative and postoperative comparison. The study included 18 children with type IIB and III CFM, 11 in the MDO group and 7 in the bone grafting group. In the MDO group, postoperative Gn-FH and Gn-Cor distances increased significantly, whereas the postoperative Gn-Mid distance decreased significantly. Occlusal cant decreased significantly and ramus height affected/unaffected ratio increased significantly after MDO. In the bone graft group, there was no statistically significant difference in the postoperative ratios of chin deviation, occlusal cant, and ramus height affected/unaffected compared to the preoperative values. Compared to bone grafting, MDO can significantly enhance ramus height ratio, level occlusal plane, and centralize the chin point among patients with CFM. Furthermore, MDO achieves superior enhancements in facial symmetry.