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This study aimed to document the prevalence, severity, and risk factors of velopharyngeal dysfunction (VPD) in craniofacial microsomia (CFM) and to analyse differences in VPD-related speech characteristics between CFM patients without cleft lip and/or palate (CL/P), CFM patients with CL/P, and CL/P patients without CFM (control). A total of 223 patients with CFM were included, of whom 59 had a CL/P. Thirty-four CFM patients had VPD, including 20 with a CL/P. VPD was significantly more prevalent in CFM with CL/P than in CFM without CL/P (odds ratio (OR) 4.1, 95% confidence interval (CI) 1.9–8.7; P < 0.001). Multivariate logistic regression showed a significant association between CL/P and VPD in CFM patients (OR 7.4, 95% CI 2.1–26.3; P = 0.002). The presence of VPD was not associated with sex, the laterality or severity of CFM. Speech problems related to VPD appeared to be similar among the different groups (CFM without CL/P, CFM with CL/P, CL/P without CFM). As 15.2% of all CFM patients and 8.5% of CFM patients without CL/P had VPD, it is proposed that all patients with CFM, with or without CL/P, should be assessed by a speech and language therapist for the potential risk of VPD. [ABSTRACT FROM AUTHOR]

Background/Aim: Hemifacial microsomia (HFM) is the second most common congenital anomaly of the craniomaxillofacial region after the cleft lip and palate. This malformation is characterized by unilateral mandible and ear hypoplasia. Treatment varies and depends on different phenotypes. Severe deficiencies require multiple reconstructive surgeries to address facial asymmetries. This study aimed to review the surgical approach and evaluate the postoperative results of a case with right hemifacial microsomia and anotia. Case Report: This is the case of a 35-year-old female patient who, after multiple graft operations in the right mandible due to hemifacial microsomia, was operated for auricle reconstruction. Initially, a three-dimensional custom made Medpor (porex) was used, covered by the superficial temporal fascia. Subsequently, due to inflammation and partial exposure of this porous polyethylene implant (PPI), a temporalis muscular flap along with the deep temporal fascia were used as a salvage operation. Ten months later, the patient underwent deep plane face lift combined with open rhinoplasty. Lefort I osteotomies and transoral lip lengthening through a transection of the levator nasi septi muscle were also performed. Ear helix reconstruction was completed with a rotation scalp flap after tissue expansion. The patient had an uncomplicated postoperative course with an aesthetically acceptable result. Conclusion: As a congenital disorder, hemifacial microsomia is present at birth and successful reconstruction is of fundamental importance for the smooth integration of these individuals into society. The multiple asymmetries, the affected topographic area of the face, as well as the onset in neonatal age constitute a challenge for reconstructive surgery. [ABSTRACT FROM AUTHOR]

Objective: To investigate condylar bone density (BD) in children with craniofacial microsomia (CFM) and identify factors that contribute to early stage condylar resorption (CR) after mandibular distraction osteogenesis (MDO). Design: Retrospective study. Setting: Craniofacial department of a plastic surgery hospital. Patients: Fifty-one children with CFM classified as Pruzansky IIa based on complete pre-(T0) and post-MDO (T1) computed tomography (CT) data. Intervention and Main outcome measurements: Mimic 21.0 (Materialise Inc., Belgium) was used to measure bilateral BD and condylar height (CH) and volume (CV) of affected side. Children were split into groups based on either affected side BD or the distraction length (DL,25 mm as cutoff).Bilateral BD was compared using a paired t-test in each group. The CH and CV of affected side at T0 and T1 were compared. The relative values of the CH and CV (CH ratio) and the volume (CV ratio) of the affected side were compared across the groups. Results: The BD was lower on affected side than on unaffected side. Regarding BD, CH and CV decreased after MDO in group I, while the CH ratio and CV ratio of group I was lower than that of groups II and III. Regarding DL, the CV ratio was lower in Group L than Group S. Conclusions: The condylar bone quality on affected side is compromised in type IIa CFM. A low BD in combination with a larger distraction distance may increase the risk of CR; therefore, MDO in patients with such characteristics should be postponed. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the volumetric airway changes using three-dimensional images following unilateral vertical mandibular distraction osteogenesis (uVMD) among patients with hemifacial microsomia (HFM). Design: This retrospective study analyzed cone-beam computed tomography (CBCT) scans of patients with HFM at three different timepoints; pretreatment (T0), posttreatment (T1), and at least 6 months post-distraction (T2). The individuals underwent uVMD between December 2018-Januaray 2021. The nasopharyngeal (NP) volume, oropharyngeal (OP) volume, and the area of maximum constriction (MC) were measured. Wilcoxon signed-rank test was used to compare the airway volumes between T0-T1, T1-T2, and T0-T2. Results: Five patients met the inclusion criteria (mean age = 10.4 years; 1 female, 4 males). Intraclass correlation analysis showed excellent interrater reliability (r >.86, P <.001). Posttreatment, the OP airway volume exhibited a significant mean increase of 56% (P =.043) from T0 to T1, but decreased from T1-T2 by 13%. Likewise, the total airway volume presented with a significant mean increase of 48% between T0-T1 (P =.044), and a decrease of 7% from T1-T2. The changes in the NP airway volume and area of MC were not statistically significant (P >.05), but an increase in the mean values were observed. Conclusion: Surgical intervention with uVMD may significantly increase the OP airway volume and the total airway volume among patients with HFM immediately after distraction. However, the statistical significance diminished after six months post-consolidation, but the mean percent change may remain of clinical significance. The NP volume did not seem to show significant changes in response to uVMD. [ABSTRACT FROM AUTHOR]

This study aimed to prospectively investigate the reference values for masseter muscle thickness and hardness using ultrasonography and shear wave elastography, respectively, in patients with hemifacial microsomia (HFM). We enrolled 51 patients, aged 5–20 years, with HFM including 31 males and 20 females. The upper-lower, left-right, and anterior-posterior diameters of 102 masseter muscles and stiffness of 98 masseter muscles were determined by examining the unaffected and affected sides of each participant's face. The upper-lower, left-right, and anterior-posterior diameters of the masseter muscle were significantly smaller at rest (4.26 ± 0.83, 2.94 ± 0.75, and- 0.80 ± 0.25 cm, respectively) and during contraction (3.95 ± 0.78, 2.71 ± 0.78, and 0.87 ± 0.29 cm, respectively) in the affected side than those in the healthy side (5.45 ± 0.66, 3.87 ± 0.49, and 0.97 ± 0.20 cm, respectively, at rest and 4.99 ± 0.45, 3.49 ± 0.53, and 1.07 ± 0.23 cm, respectively, during contraction, p < 0.05). In the resting state, the hardness of the masseter muscle on the affected side (0.77 ± 0.66 m/s) was significantly greater than that on the healthy side (0.42 ± 0.41 m/s; p < 0.05). The magnitude of changes in the upper-lower, left-right, and anterior-posterior diameters of the biting muscle in the occlusal state were significantly smaller on the affected side (−0.30 ± 0.27, −0.23 ± 0.17, and 0.08 ± 0.08 cm, respectively) than those in the healthy side (−0.47 ± 0.38, −0.37 ± 0.25, and 0.10 ± 0.12 cm, respectively, p < 0.05). The knowledge of these values allows for better understanding of the disease characteristics of HFM, which may be used for its diagnosis, treatment, and prognosis. Patients experiencing different severity levels exhibited significant differences in the morphology and function of the masseter muscle on the affected-side (p < 0.05). Level III. [ABSTRACT FROM AUTHOR]

Abstract Background Hemifacial microsomia is characterized by the hypoplasia of the mandible and temporomandibular joint, involving a variety of abnormalities of the craniofacial area. Since it gradually worsens as patients grow, it is necessary to understand the characteristics of facial bone growth and facial deformity in hemifacial microsomia patients in order to determine appropriate treatment timing and treatment methods. Main body Appropriate classification of hemifacial microsomia would facilitate accurate diagnosis, selection of treatment methods, and prognosis prediction. Therefore, in this article, we review previously published hemifacial microsomia classification and provide an overview of the growth of the facial skeleton and the characteristics of hemifacial microsomia-related facial deformities. The OMENS system is the most comprehensive classification method based on the characteristics of hemifacial microsomia deformity, but it needs to be improved to include malar/midface abnormalities and nerve involvement. In hemifacial microsomia, growth is progressing on the affected side, but to a lesser degree than the unaffected side. Therefore, surgical intervention in growing patients should be performed selectively according to the severity of deformity. Conclusion Understanding growth patterns is important to develop appropriate treatment protocols for correcting asymmetry in adult patients and to minimize secondary anomalies in growing patients.

Background: The current high standards in orthognathic surgery demand surgical solutions that are both ⁠ functionally ⁠ effective and aesthetically pleasing. Our approach offers one for enhanced stability, attractiveness, and nerve protection ⁠ with improved accessibility ⁠ in the majority of orthognathic scenarios ⁠ compared to an inverted L osteotomy. Methods: A case series is presented to illustrate the application and outcomes of HSSO, an optimised approach that combines the advantages of a transoral inverted L osteotomy with specific enhancements and increased versatility, ⁠ with accessibility and exposure similar to a BSSO. Results: HSSO as a completely transoral technique, demonstrate the ability to perform significant counterclockwise rotations of the mandible, eliminating the need for trocars or skin incisions. We experinced high postoperative stability when HSSO was performed in conjunction with a three-piece LeFort 1 osteotomy on a dynamic opposing arch. In comparison to an inverted L approach, we postulated that HSSO offers advantages in stability, due to the increased segmental overlap of the proximal and distal segments of the mandible. This approach is designed to enhance the safety of the inferior alveolar nerve compared to traditional sagittal split methods. Furthermore, HSSO represents an alternative to total joint replacement in select cases of idiopathic condylar resorption and is effective for correcting mandibular asymmetries while maintaining jawline aesthetics. This is achieved through the manipulation of the mandibular angle, ramus height, and inferior border without creating a step deformity in the soft tissue. Conclusions: The outcomes of HSSO highlight its capacity to deliver predictable, functional, and aesthetically pleasing results, offering a viable alternative to more traditional orthognathic techniques. [ABSTRACT FROM AUTHOR]

The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The eligibility criteria for the review were (1) assessing use of OFA as a stand‐alone treatment and (2) using OFA in combination during or after MDO. The PICO (population, intervention, comparison and outcome) format formulated clinical questions with defined inclusion and exclusion criteria. No limitations concerning language and publication year were applied. Information sources: A literature search of Medline, Scopus, Embase, Cochrane Central Register of Controlled Trials, Web of Science databases without restrictions up to 30 September 2022. The risk of bias was assessed. According to Cochrane and PRISMA guidelines, two independent authors conducted data extraction. The level of evidence for included articles was evaluated based on the Oxford evidence‐based medicine database. Due to the heterogeneity of studies and insufficient data for statistical pooling, meta‐analysis was not feasible. Therefore, the results were synthesized narratively. A total of 437 articles were retrieved. Of these, nine met inclusion criteria: five assessing OFA and four assessing OFA during or after MDO. There is limited evidence to suggest that stand‐alone and combination treatment with OFA is beneficial for treating mild‐to‐moderate UCM‐related dentofacial deformities in short term. No studies assessed the burden of care. In the management of UCM, there is insufficient evidence supporting the efficacy of OFA as a stand‐alone treatment or when combined with MDO. Additionally, there is a lack of evidence regarding treatment protocols and the effect on the condyles and the TMJ. The study was registered at Prospero database number CRD42020204969. [ABSTRACT FROM AUTHOR]

Background Injecting botulinum toxin (BTX) into the submandibular glands (SMGs) can treat drooling symptoms in neurological diseases and improve the aesthetics of SMG hypertrophy and ptotic SMGs. Objectives This study aimed to define the size and position of the SMGs by high-frequency ultrasound, and to perform statistical analysis to improve the safety and accuracy of BTX injection therapy. Methods Neck ultrasonography with high-frequency ultrasound was performed on 214 volunteers. The length, height, and thickness of the SMGs, and the distance between the SMGs and the midline, the anterior border of the sternocleidomastoid, the mandible, and the surface were measured. Results The SMGs were almond-shaped with a mean [standard deviation] length of 33.7 [4.7] mm, a thickness of 13.3 [2.9] mm, and a height of 27.6 [6.0] mm. The length and height were significantly different between underage and youth groups. The size of the SMGs did not show any notable differences with increasing BMI; however, their depth, and the distance from the mandible, midline, and anterior border of the sternocleidomastoid increased. No significant differences were observed between the affected and healthy sides in patients with microtia, hemifacial microsomia, or cleft lip and palate. Conclusions Ultrasound provides more comprehensive information regarding the size and position of the SMGs, which can serve as a reference in BTX therapy and in the diagnosis of SMG diseases involving size alterations. Level of Evidence: 4 [ABSTRACT FROM AUTHOR]

Background: Hemifacial microsomia is characterized by the hypoplasia of the mandible and temporomandibular joint, involving a variety of abnormalities of the craniofacial area. Since it gradually worsens as patients grow, it is necessary to understand the characteristics of facial bone growth and facial deformity in hemifacial microsomia patients in order to determine appropriate treatment timing and treatment methods. Main body: Appropriate classification of hemifacial microsomia would facilitate accurate diagnosis, selection of treatment methods, and prognosis prediction. Therefore, in this article, we review previously published hemifacial microsomia classification and provide an overview of the growth of the facial skeleton and the characteristics of hemifacial microsomia-related facial deformities. The OMENS system is the most comprehensive classification method based on the characteristics of hemifacial microsomia deformity, but it needs to be improved to include malar/midface abnormalities and nerve involvement. In hemifacial microsomia, growth is progressing on the affected side, but to a lesser degree than the unaffected side. Therefore, surgical intervention in growing patients should be performed selectively according to the severity of deformity. Conclusion: Understanding growth patterns is important to develop appropriate treatment protocols for correcting asymmetry in adult patients and to minimize secondary anomalies in growing patients. [ABSTRACT FROM AUTHOR]

Hemifacial microsomia (HFM) is a rare congenital genetic syndrome primarily affecting the first and second pharyngeal arches, leading to defects in the mandible, external ear, and middle ear. The pathogenic genes remain largely unidentified. Whole-exome sequencing (WES) was conducted on 12 HFM probands and their unaffected biological parents. Predictive structural analysis of the target gene was conducted using PSIPRED (v3.3) and SWISS-MODEL, while STRING facilitated protein-to-protein interaction predictions. CRISPR/Cas9 was applied for gene knockout in zebrafish. In situ hybridization (ISH) was employed to examine the spatiotemporal expression of the target gene and neural crest cell (NCC) markers. Immunofluorescence with PH3 and TUNEL assays were used to assess cell proliferation and apoptosis. RNA sequencing was performed on mutant and control embryos, with rescue experiments involving target mRNA injections and specific gene knockouts. CDC27 was identified as a novel candidate gene for HFM, with four nonsynonymous de novo variants detected in three unrelated probands. Structural predictions indicated significant alterations in the secondary and tertiary structures of CDC27. cdc27 knockout in zebrafish resulted in craniofacial malformation, spine deformity, and cardiac edema, mirroring typical HFM phenotypes. Abnormalities in somatic cell apoptosis, reduced NCC proliferation in pharyngeal arches, and chondrocyte differentiation issues were observed in cdc27−/− mutants. cdc27 mRNA injections and cdkn1a or tp53 knockout significantly rescued pharyngeal arch cartilage dysplasia, while sox9a mRNA administration partially restored the defective phenotypes. Our findings suggest a functional link between CDC27 and HFM, primarily through the inhibition of CNCC proliferation and disruption of pharyngeal chondrocyte differentiation. [ABSTRACT FROM AUTHOR]

Objective: To characterise the morphology of temporal bone in patients with craniofacial microsomia (CFM). Design: A retrospective study. Setting: A craniofacial centre. Patients: Ninety-four patients with unilateral craniofacial microsomia. Interventions: Mimics 21.0 (Materialise Inc., Belgium) was used to locate temporal bone landmarks on preoperative computed tomography data. The spatial Cartesian coordinate system was established in 3-matic 13.0 (Materialise Inc., Belgium). The coordinates of each landmark and the distances and angles between the landmarks were calculated. A classification system was used to quantify the severity of the zygomatic arch deformity. Main outcome measure(s): The bilateral differences in coordinates, linear and angular measurements, and the severity of temporal bone deformity (TTL δ, Psag δ, Paxiδ, and Tsag δ) among the groups were compared using the paired t-test and Kruskal-Wallis test, respectively. Results: Compared to those of the unaffected side, the landmarks of the inner ear and petrous part on the affected side showed a decrease in the Z-coordinate or an increase in the X-coordinate. A superolateral rotation tendency of the temporal bone on the affected side was found. There were no significant differences in the linear and angular measurements between the groups. The degree of zygomatic arch deformation was lower in the mild group; however, no significant difference was found between the moderate and severe groups. Conclusions: In patients with CFM, asymmetry of the temporal bone and its inner organs (vestibulocochlear organ, facial nerve, and vessels) exists in multiple dimensions; its severity is not completely consistent with the degree of mandibular involvement. [ABSTRACT FROM AUTHOR]

Objective: Determine if the ideal location of the construct in microtia reconstruction for hemifacial microsomia (HFM) can be more accurately derived from measurements on the cranium. Design: High-resolution computerized tomography (CT) images were analyzed through craniometric linear relationships. Setting: Our tertiary care institution from 2000 to 2021. Patients/Participants: Patients diagnosed with HFM and microtia, who had high-resolution craniofacial CT scans, yielding 36 patients accounting for 44 CT scans. Main Outcome Measure(s): First, the integrity of the posterior cranial vault among HFM patients was determined. If proven to be unaffected, it could be used as a reference in the placement of the construct. Second, the position of the ear in relation to the cranium was assessed in healthy age-matched controls. Third, if proven to be useful, the concordance of these cranium-based relationships could be validated among our HFM cohort. Results: The posterior cranial vault is unaffected in HFM (P >.001). Further, craniometric relationships between the tragus and the Foramen Magnum, as well as between the tragus and the posterior cranium, have been shown to be highly similar and equally precise in predicting tragus position in healthy controls (P >.001). These relationships held true across all age groups (P >.001), and importantly among HFM patients, where the mean absolute difference in predicted tragus position never surpassed 1.5 mm. Conclusions: Relationships between the tragus and the cranium may be used as an alternative to distorted facial anatomy or surgeon's experience to assist in pre-operative planning of construct placement in microtia reconstruction for HFM patients. [ABSTRACT FROM AUTHOR]

IntroductionMandible distraction osteogenesis (MDO) is widely used to reconstruct the mandible in patients with mild Hemifacial microsomia (HFM). However, the masseter's response to mandible distraction remains unclear.MethodsIn this study, we analyze the effect of the surgical intervention on masseter muscle by a retrospective analysis. The procedure consisted of a five-day latent period, a three-week distraction period, and a six-month consolidation period. CT data were manually segmented and measured with Mimics software before surgery, within 3 months, and more than 1 year postoperatively. Masseter volume, masseter length, masseter width, and mandible ramus height were measured and analyzed using paired t-test, Pearson, and Spearman correlation analysis.ResultsWe included 21 patients with HFM who underwent mandible distraction osteogenesis from 2015 to 2020. The masseter volume on the affected side increased immediately after surgery from (6,505.33 ± 3,671.95) mm3 to (10,194.60 ± 5638.79) mm3, but decreased to (8,148.38 ± 3,472.57) mm3 at the second follow-up correlated to mandible ramus height (r = 0.395, P = 0.038). A similar trend was observed in changes in masseter length. Symmetry and width of masseter muscle had no longitudinal statistical significance.DiscussionMasseter muscle involvement benefits from MDO in the short term. To achieve long-term efficacy, more attention should be paid to muscle reconstruction.

Parry Romberg syndrome also known as progressive hemifacial atrophy is an uncommon degenerative condition, characterized by unilateral, slow, and progressive atrophy of face. Patient presents with loss of facial symmetry and neurological manifestations. After the degenerative process settles, reconstructive surgeries are performed to address facial asymmetry. For accurate assessment of volume deficit, laser scanning and three- dimensional printing can be used which offers the advantage of precise surgical planning and good aesthetic outcome. We present a case of soft tissue reconstruction in Parry Romberg syndrome with anterolateral thigh flap with use of three- dimensional laser scanning. [ABSTRACT FROM AUTHOR]

Abstract Background To report a case of a 4-year-old patient with Goldenhar syndrome. Case presentation The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition. Conclusions Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.

Objective: To examine the frequency of autologous and alloplastic ear reconstructions for patients with microtia in the United States, and describe post-index procedure rates associated with each method. Design: Retrospective cohort study. Setting: Claims data from 500 + hospitals from IBM® MarketScan® Commercial and Multi-State Medicaid databases. Patients/Participants: A total of 649 patients aged 1 to 17 years with International Classification of Diseases, ninth/tenth revision (ICD-9/10) diagnoses for microtia, congenital absence of the ear, or hemifacial microsomia. Interventions: Alloplastic or autologous ear reconstruction between 2006 and 2018. Main Outcome Measure: Post-index procedures performed within 1 year following the index repair, analyzed across the study period and separately for each half of the study period (2006-2012, 2012-2018). Results: A total of 486 (75%) qualifying patients received autologous and 163 (25%) received alloplastic reconstruction. Secondary procedure rates were significantly higher in the autologous group at 90 days (P =.034), 180 days (P <.001), and at 365 days (P <.001). Alloplastic reconstruction accounted for 23.2% of reconstructions in the first half of the study period compared with 26.7% in the second half (P =.319). One-year secondary procedure rates in the autologous group were not significantly different between both halves of the study period (69.7% vs 67.1%, P =.558), but were significantly lower in the second half for the alloplastic group (44.9% vs 20.2%, P =.001). Conclusions: In these databases, autologous reconstruction is more common than alloplastic reconstruction. Autologous reconstruction is staged, with most undergoing a secondary procedure between 3 months and 1 year postoperatively. Secondary procedure rates decreased over time in patients undergoing alloplastic reconstruction. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the outcomes of orthognathic surgery (OGS) in patients with craniofacial microsomia (CFM) who had previously undergone mandibular distraction osteogenesis (MDO). Design: A retrospective cohort study was performed including all patients with CFM who were treated with OGS at a single institution between 1996 and 2019. The clinical records, operative reports, and cone beam computed tomography (CBCT) scans were reviewed. CBCT data before OGS (T1), immediately after OGS (T2), and at long-term follow-up (T3) were analyzed using Dolphin three-dimensional software to measure the occlusal cant and chin point deviation. Results: The study included 12 patients with CFM who underwent OGS (6 underwent OGS without MDO and 6 underwent OGS after MDO). There was a statistically significant improvement in occlusal cant and chin point deviation in both groups postoperatively. Occlusal cant relapsed by a mean of 0.6° (standard deviation [SD] 1.1°) in the patients who had OGS alone compared with 0.7° (SD 1.2°) in the patients who had OGS after MDO (P =.745) between T2 and T3. There was no statistically significant difference in chin point relapse between patients who had OGS alone compared with those who had OGS after MDO (0.1 mm [SD 2.5mm] vs 0.7mm [SD 2.2mm]; P =.808). Conclusions: Within the limitations of this study, these findings suggest that OGS after MDO in patients with CFM can produce stable results. [ABSTRACT FROM AUTHOR]

Background: To report a case of a 4-year-old patient with Goldenhar syndrome. Case presentation: The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition. Conclusions: Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions. [ABSTRACT FROM AUTHOR]

Hypoplastic asymmetry due to hemifacial microsomia (HFM) often represents the most difficult reconstruction in the craniomaxillofacial clinic. Although autogenous grafts are generally used for temporomandibular joint reconstruction (TMJR), the use of TMJR prostheses is not well established. The aim of this review was to identify, collect and analyse the use of extended TMJR (eTMJR) prostheses in patients with HFM, describing clinical features, surgical procedures and postoperative complications. Online searches of all major databases were performed according to PRISMA guidelines. All studies with HFM patients treated with the eTMJR prostheses were included. Descriptive statistics were used for data analysis. A total of 19 studies, including 08 case studies, 06 case series and 05 retrospective cohort studies, met the inclusion criteria, where a total of 42 HFM patients were reported from 18 countries, mostly from the United States (05; 26%). Fifteen of the 42 cases (~36%) were male. The mean ± SD (range) age of patients in all studies was 19.79 ± 5.81 (9‐36) years. The mean ± SD (range) of patient follow‐up was 41.30 ± 35.50 (6‐136) months. A total of 5 (10.6%) patients were implanted with bilateral eTMJR prostheses. The Pruzansky classification was used in 18 (~89.5%) studies, OMENS classification in 01 (~5%) study, whereas no classification was reported in one study. Only 01 (7.1%) study had documented the eTMJR classification for the prosthesis used. In growing patients with or without a history of failed autogenous tissues, TMJR prostheses may provide a viable alternative. Randomized studies with large cohorts are warranted to validate these preliminary results. [ABSTRACT FROM AUTHOR]

The study analyzed vascular variations in microtia associated with hemifacial microsomia (HFM). A retrospective analysis was conducted on 47 patients with microtia and HFM, who underwent computed tomography angiography between November 2011 and May 2022. The vascular course and branching supplying the TPF were analyzed. Craniometric measurements were conducted to determine the horizontal distance from the porion and fronto-zygomatic suture (F-Z suture) to the vessels. On the affected side, the TPF was primarily supplied by either the superficial temporal artery (STA) or the postauricular artery-originated STA (Po-STA). The Po-STA (n = 29) was more prevalent than the STA (n = 18), and mostly exhibited a single frontal branch (n = 20). Craniometric analysis revealed that the Po-STA was closer to the porion, ear vestige, and F-Z suture than the STA on the non-affected side. Furthermore, a significant correlation was observed between the severity of mandibular hypoplasia and presence of Po-STA variation (Cramer's V = 0.498, p = 0.005). Microtia associated with HFM exhibits vascular variations in the TPF — in particular, a unique Po-STA variation. The Po-STA is prone to injury during ear reconstruction because of its proximity to the external auditory canal and ear vestige. Surgeons should be cautious of these anatomical variations for safer ear reconstruction procedures, and utilize preoperative imaging for meticulous planning. [ABSTRACT FROM AUTHOR]

Background: Hemifacial microsomia (HFM) results from the malformation of facial structures derived from the first and second pharyngeal arches. The ramus of the mandible is the most deformed part of the mandible in HFM, which subsequently affects the linear measurements of the different parts of the mandible. This study evaluated the anatomical differences between the affected and contralateral mandibular ramus and body (MRB) in a select cohort of HFM patients in South Africa. Methods: This is a serial retrospective study of 20 HFM patients. They were categorised into mild or severe groups by the Pruzansky-Kaban grading and into three age-dependent groups (1–5, 6–12 and 13–19 years old). Linear and angular measurements of the MRB components were recorded from preoperative computed tomography scans to compare severity, age groups, ramus and body index (RBI), and the affected to contralateral (A/C) sides ratio. Result: Significant differences existed in the linear and angular measurements of the mandible and RBI between affected and contralateral sides, except for the MBL. The mean differences between the mild and severe RBI deformities were insignificant. The A/C ratio was insignificantly smaller in the severe group than in the mild group. Age grouping did not significantly affect the A/C ratio in the mandible ramus and body. Conclusion: Mandibular asymmetry is more noticeable in HFM patients between 13 and 19 years old. The A/C ratio of the MRB did not worsen with different age groups and severity grading in this study. Hence, clinicians should postpone surgery until HFM patients attain skeletal maturity.

The treatment management of patients with hemifacial microsomia (HM) includes both surgical and nonsurgical approaches and depends primarily on the degree of deformity of the facial and skeletal structures. In this context, the combined efforts of the maxillofacial surgeon, the orthodontist, and the prosthodontist are essential for a satisfactory functional and esthetic outcome. Case presentation: A 31-year-old man presented with a chief complaint of facial asymmetry. The patient had been diagnosed with HM on the right side, with severe external ear deformity, and hypoplasia of the facial muscles and the zygomatic bone. The intraoral examination showed a Class I molar and canine relationship with a reduced horizontal overlap and an occlusal plane canting. The maxillary anterior teeth were severely worn due to traumatic occlusion. Orthodontic treatment in conjunction with combined orthognathic surgery was planned to address the facial asymmetry. Ramus distraction osteogenesis was carried out, followed by conventional presurgical orthodontic treatment. The treatment was completed by prosthetic rehabilitation for the reconstruction of the maxillary teeth and fine occlusal adjustment. Conclusion: The cooperation between the orthodontist, surgeon, and prosthodontist becomes indispensable when treating complex cases of HM. An interdisciplinary approach should be adopted from the start of treatment, promoting integrated customized care. [ABSTRACT FROM AUTHOR]

The aim of this study is to present a sequential strategy of soft-tissue, non-osteogenic distraction with a novel device, followed by microvascular bony reconstruction for severe cases of mandibular hypoplasia. The case of a 21-year-old woman with Goldenhar syndrome is presented, whose mandible remained severely hypoplastic despite previous attempts at distraction and was not suitable for further osteogenic distraction. Soft tissue deficiency and pin track scarring prevented free fibular transfers. A personalized distractor, anchored to the cranium and the mandibular symphysis, was designed to expand the soft tissues while allowing for physiological temporomandibular joint (TMJ) movement without compression forces. Internal distractors were placed along the osteotomies to prevent condylar luxation. After completion of the soft tissue distraction, the native mandible was resected except for the condyles and reconstructed with two free fibula flaps. This report represents the proof of concept of a sequential approach to severe lower face soft-tissue and bone deficiency, which preserves TMJ function and avoids the transfer of poorly matched skin to the face. [ABSTRACT FROM AUTHOR]

This article describes the many anomalies within and outside the head and neck of hemifacial microsomia (HFM).

Hemifacial Microsomia (HFM) is the second most common congenital craniofacial malformation syndrome, and the complexity of HFM makes its treatment challenging. The present study aimed to introduce a new approach of utilization of virtual surgical planning (VSP) and 3D-printed surgical adjuncts for maxillofacial reconstruction. Five HFM patients were included in this study. All participants were provided with a full VSP, including the design of osteotomy lines, the design and fabrication of 3D-printed cutting guides, fixation plates, and titanium mesh for implantation. With the assistance of 3D-printed cutting guides and fixation plates, the orbital deformities were corrected, and a 3D-printed titanium mesh combined with iliac cancellous bone graft was applied to reconstruct the zygomatic arch. The surgical accuracy, effectiveness, and bone absorption rate were evaluated. All patients completed the entirely digital treatment process without experiencing severe complications. The surgical adjuncts were effective in aligning the movement of the bone segments with the surgical plan, resulting in mean 3D deviations (1.0681 ± 0.15 mm) and maximum 3D deviations (3.1127 ± 0.44 mm). The image fusion results showed that the patients' postoperative position of the maxilla, zygoma, and orbital rim was consistent with the virtual surgical plan, with only a slight increase in the area of bone grafting. The postoperative measurements showed significant improvement in the asymmetry indices of Er (AI of Er: from 17.91 ± 3.732 to 5.427 ± 1.389 mm, p = 0.0001) and FZ (AI of FZ: from 7.581 ± 1.435 to 4.070 ± 1.028 mm, p = 0.0009) points. In addition, the observed bone resorption rate at the 6-month follow-up across the five patients was 45.24% ± 3.13%. In conclusion, the application of VSP and 3D-printed surgical adjuncts demonstrates significant value in enhancing the precision and effectiveness of surgical treatments for HFM. A 3D-printed titanium mesh combined with iliac cancellous bone graft can be considered an ideal alternative for the reconstruction of the zygomatic arch. [ABSTRACT FROM AUTHOR]

Objectives: Hemifacial microsomia (HFM) is a common birth defect involving the first and second branchial arch derivatives. Although several chromosomal abnormalities and causal gene variants have been identified, genetic etiologies in a majority of cases with HFM remain unknown. This study aimed to identify genetic mutations in affected individuals with HFM. Methods: Whole‐exome sequencing and bioinformatics analysis were performed for 16 affected individuals and their family members. Sanger sequencing was applied for confirmation of selected mutations. Zebrafish embryos were used for in situ hybridization of candidate gene, microinjection with antisense morpholino, and cartilage staining. Results: A homozygous missense mutation (c.484G > A; p.V162I) in the FRK gene was identified in an 18‐year‐old girl with HFM and dental abnormalities. Heterozygous mutation of this mutation was identified in her parents, who are first cousins in a consanguineous family. FRK is highly expressed in the Meckel's cartilage during embryonic development in mouse and zebrafish. Knockdown of frk in zebrafish showed a lower length and width ratio of Meckel's cartilage, abnormal mandibular jaw joint, and disorganized ceratobranchial cartilage and bone. Conclusions: We identified a recessive variant in the FRK gene as a novel candidate gene for a patient with HFM and mandibular hypoplasia and revealed its effects on craniofacial and embryonic development in zebrafish. [ABSTRACT FROM AUTHOR]

Hemifacial microsomia (HFM) patients may benefit from extended temporomandibular joint replacements (eTMJR) to improve function and quality of life. A cross-sectional survey was sent to surgeons who place alloplastic temporomandibular joints regarding their experience with and complications encountered when placing eTMJR in patients with HFM. Fifty-nine responded to the survey. Thirty-six (61.0%) reported treating patients with HFM and 30 (50.8%) of those reported placing an alloplastic temporomandibular joint (TMJ) prosthesis for patients with HFM. Twenty-three of the 30 surgeons (76.7%) placing alloplastic TMJ prostheses reported using an eTMJR in patients with HFM. The average maximum inter-incisal opening (MIO) after an eTMJR in HFM patients was repor ted as> 25 mm by 82.6% of the participants, and between 16 mm and 25 mm by 17.4%. No participants reported MIO < 15 mm. To avoid condylar sag and open bite changes postoperatively, over 70% reported using some form of modification to stabilize the occlusion. Respondents reported good functional outcomes for eTMJR in patients with HFM with relatively few complications. Therefore, eTMJR could be considered a viable option in the management of this patient population. [ABSTRACT FROM AUTHOR]

Summary: Hemifacial microsomia (HFM) is characterized by uni- or bilateral microtia and hypoplasia of the mandible, orbits, facial nerve, and adjacent soft tissues. Patients with Pruzansky–Kaban type III HFM show the most severe facial deformities and often encounter difficulty obtaining treatment. In recent years, orthognathic surgery for HFM-related deformities has often been performed after the patient has stopped growing. However, few detailed reports have described the difficulties of orthognathic surgery for patients with type III HFM. This report describes the case of a patient with type III HFM who underwent three unilateral mandibular reconstructions while still growing, including autogenous reconstructions and secondary distraction osteogenesis, followed by orthognathic surgery with iliac bone grafting for an interpositional gap between the proximal and distal segments after she had stopped growing to improve facial asymmetry and malocclusion.

Hemifacial microsomia (HFM) is a rare congenital genetic syndrome primarily affecting the first and second pharyngeal arches, leading to defects in the mandible, external ear, and middle ear. The pathogenic genes remain largely unidentified. Whole-exome sequencing (WES) was conducted on 12 HFM probands and their unaffected biological parents. Predictive structural analysis of the target gene was conducted using PSIPRED (v3.3) and SWISS-MODEL, while STRING facilitated protein-to-protein interaction predictions. CRISPR/Cas9 was applied for gene knockout in zebrafish. In situ hybridization (ISH) was employed to examine the spatiotemporal expression of the target gene and neural crest cell (NCC) markers. Immunofluorescence with PH3 and TUNEL assays were used to assess cell proliferation and apoptosis. RNA sequencing was performed on mutant and control embryos, with rescue experiments involving target mRNA injections and specific gene knockouts. CDC27 was identified as a novel candidate gene for HFM, with four nonsynonymous de novo variants detected in three unrelated probands. Structural predictions indicated significant alterations in the secondary and tertiary structures of CDC27. cdc27 knockout in zebrafish resulted in craniofacial malformation, spine deformity, and cardiac edema, mirroring typical HFM phenotypes. Abnormalities in somatic cell apoptosis, reduced NCC proliferation in pharyngeal arches, and chondrocyte differentiation issues were observed in cdc27−/− mutants. cdc27 mRNA injections and cdkn1a or tp53 knockout significantly rescued pharyngeal arch cartilage dysplasia, while sox9a mRNA administration partially restored the defective phenotypes. Our findings suggest a functional link between CDC27 and HFM, primarily through the inhibition of CNCC proliferation and disruption of pharyngeal chondrocyte differentiation.

ABSTRACTBackground Craniofacial anomalies are developmental anomalies impacting the growth of bones of the face and the skull. These anomalies are reported to affect a large population with a prevalence rate of 2% worldwide.Results Early diagnosis, and subsequently timely management, is crucial. Management often involves a multidisciplinary approach which requires a group of various physicians and dental specialists from different fields to provide proper guidance to both the patient and family members. Imaging forms a critical part of diagnosis and various types of imaging modalities are available for diagnosing and treatment planning for various craniofacial conditions.Practical Implications This article aims to provide a comprehensive review on the importance of 3-dimensional cone-beam computed tomography (CBCT) usage in the diagnosis of patients with several common craniofacial anomalies, namely, Apert syndrome, Cleidocranial dysplasia, Achondroplasia, Hemifacial Microsomia, DiGeorge syndrome, Gardner syndrome, and Treacher Collins syndrome.

Abstract Introduction: goldenhar syndrome is a rare congenital syndrome that affects the craniofacial morphogenesis. It is a complex syndrome, with heterogeneous presentation which the diagnosis can still be performed in the intrauterine through morphological ultrasound. Description: a case report of a 4-year-old male patient diagnosed with Goldenhar syndrome, along with its clinical presentation, diagnostic investigation and follow-up. Discussion: the follow-up on these patients remains a challenge, since it can affect different systems and with different presentations. The earlier the diagnosis is performed, the greater the patient’s chances of having a favorable prognosis with multidisciplinary stimulation. The objective of this article is to contribute to the medical literature, in order to assist in the diagnosis and management of future cases.

The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia (HFM). Patients often accompany short mandible, ear dysplasia, facial nerve, and soft tissue dysplasia. The etiology of HFM is not fully understood. To organize the possible up‐to‐date information on the etiology, craniofacial phenotypes, and therapeutic alternatives in order to fully comprehend the HFM. Reviewing the potential causes, exploring the clinical features of HFM and summarizing the available treatment options. Vascular malformation, Meckel's cartilage abnormalities, and cranial neural crest cells (CNCCs) abnormalities are three potential etiology hypotheses. The commonly used clinical classification for HFM is OMENS, OMENS‐plus, and SAT. Other craniofacial anomalies, like dental defects, and zygomatic deformities, are still not precisely documented in the classification. Patients with moderate phenotypes may not need any treatment from infancy through adulthood. However, patients with severe HFM require to undergo multiple surgeries to address facial asymmetries, such as mandibular distraction osteogenesis (MDO), autologous costochondral rib graft (CCG), orthodontic and orthognathic treatment, and facial soft tissue reconstruction. It is anticipated that etiology research will examine the pathogenic mechanism of HFM. A precise treatment for HFM may be possible with thoroughly documented phenotypes and a pathogenic diagnosis. [ABSTRACT FROM AUTHOR]

Hemifacial microsomia (HFM) is a complex congenital malformation with an extremely variable phenotypic presentation. It usually involves structures of the first and second pharyngeal arches. Anomalies of the cardiac, pulmonary, renal, and gastrointestinal systems are present, but the main characteristic is the mandibular hypoplasia. This is commonly treated with orthodontic hardware and various surgical modalities. Most recently, a total joint replacement with a customized prosthesis is idealized to provide the best outcomes to these patients, so it has been used in some cases. The following case is of a 23-year-old female with congenital hypoplastic mandibular head and the absence of mandibular fossa. The proposed treatment was to reconstruct the mandible with a customized prosthesis and orthognathic surgery to correct the asymmetry and provide better phonation, speech, and facial contour. The patient is under six years follow-up with a complete adaptation of the prosthesis. [ABSTRACT FROM AUTHOR]

Objective: To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy. Design: The material used for the research was a series of 26 clinical cases of patients with assessed cleft 6 and 44 cases found out of a literature review with enough data to be useful. The 70 cases were cross-examined by the authors. Study Setting: The authors are senior craniofacial surgeons working in high-case load department from university centers where the patients are documented and receive primary as well as secondary treatment and follow-up. Patients: The patients were selected out of the series of craniofacial deformities taken care of by the authors' department as rare clefts. Main Outcome: We describe the full spectrum of cleft 6 as an autonomous entity that could present itself in three subtypes: 6a is the most proximal and could be associated with cleft 8. The subtype 6b is medial toward the zygomatic arch and frequently associated with a bone and teeth appendage (frequently described as a "maxillary duplication"). The subtype 6C goes toward the external ear between the helix crus and the auditory meatus. Conclusions: The Tessier's opinion is that Treacher Collins syndrome was the association of clefts 6, 7, and 8 and is no longer sustainable in the light of modern genetics. Most of the cleft 6 are misdiagnosed in the literature. [ABSTRACT FROM AUTHOR]

Growth and development of the head-and-neck are complex and early processes associated with higher chances of malformation. Any malformation of the hard or soft tissue of the head-and-neck leads to a common effect of facial asymmetry. Facial asymmetry is attributed to various other causes also. This article is about the significance of understanding the concepts in the management of facial asymmetry for a successful treatment outcome that satisfies the objectives and goals of the treatment and limits the complications. [ABSTRACT FROM AUTHOR]

Hemifacial microsomia (HFM) is the second most common congenital craniofacial disease and has a wide spectrum of symptoms. The classic diagnostic criterion for hemifacial microsomia is the OMENS system, which was later refined to the OMENS+ system to include more anomalies. We analyzed the data of 103 HFM patients with magnetic resonance imaging (MRI) for temporomandibular joint (TMJ) discs. The TMJ disc classification was defined into four types: D0 for normal disc size and shape; D1 for disc malformation with adequate length to cover the (reconstructed) condyle; D2 for disc malformation with inadequate length to cover the (reconstructed) condyle; and D3 for no obvious presence of a disc. Additionally, this disc classification was positively correlated with the mandible classification (correlation coefficient: 0.614, p < 0.01), ear classification (correlation coefficient: 0.242, p < 0.05), soft tissue classification (correlation coefficient: 0.291, p < 0.01), and facial cleft classification (correlation coefficient: 0.320, p < 0.01). In this study, an OMENS+D diagnostic criterion is proposed, confirming the conjecture that the development of the mandibular ramus, ear, soft tissue, and TMJ disc, as homologous and adjacent tissues, is affected to a similar degree in HFM patients. [ABSTRACT FROM AUTHOR]

Hemifacial microsomia (HFM), one of the most common congenital facial anomalies, was usually treated with the bilateral sagittal split osteotomy (BSSO) procedure to correct the asymmetric appearance and malocclusion of the mandible. However, the frequent post-operative relapse incidents would lead to the restoration of the mandibular segment to its preoperative position and failure of the BSSO procedure. In this study, a customized asymmetric fixed plate (CAF plate) was developed to resist relapse due to hemifacial microsomia occlusal forces and the different muscular traction forces on both sides of the mandible. For the actual HFM case in this study, the reconstructed mandibular segmental bone model was fixed using BSSO with a rectangular plate (the original CAF plate appearance) in the topology optimization analysis. With the topology optimization technique, the CAF plate was designed with a lightweight profile and excellent structural strength in consideration of the HFM asymmetrical muscle traction and occlusal force. Using biomechanical simulations, the von-Mises stress and CAF plate mandibular segment displacement and the miniplate were compared to evaluate which had superior relapse resistance. In the in-vitro biomechanical test, a fatigue force of 250,000 cycles and a constant muscle traction force were applied to the HFM mandibular model, which was fixed with the CAF plate fabricated using metal 3D printing (selective laser melting, SLM) to obtain the mandibular segment displacement as a relapse assessment. The topology optimization analysis showed that the CAF plate has the best characteristics, light weight and structural strength with 30% volume retention. The biomechanical analysis showed that the maximum von Mises stress of the mini-plate was 2.71 times higher than that of the CAF plate. The relapse displacement of the mandibular segment fixed with the mini-plate was 1.62 times higher than that fixed with the CAF plate. The CAF plate ability to resist relapse was confirmed by the biomechanical testing results so that only 0.29 mm of recurrence displacement was observed in the mandibular segment. The results indicated that the CAF plate structural strength and resistance to relapse was significantly better than that of the mini-plate. This study developed a customized asymmetric fixation plate for hemifacial microsomia, integrating topology optimization, metal 3D printing, and in vitro biomechanical testing to resist occlusal forces and differential muscle traction on both sides of the mandible to reduce relapse and improve fixation stability. [ABSTRACT FROM AUTHOR]

Hemifacial microsomia (HFM), a rare disorder of first- and second-pharyngeal arch development, has been linked to a point mutation in VWA1 (von Willebrand factor A domain containing 1), encoding the protein WARP in a five-generation pedigree. However, how the VWA1 mutation relates to the pathogenesis of HFM is largely unknown. Here, we sought to elucidate the effects of the VWA1 mutation at the molecular level by generating a vwa1-knockout zebrafish line using CRISPR/Cas9. Mutants and crispants showed cartilage dysmorphologies, including hypoplastic Meckel's cartilage and palatoquadrate cartilage, malformed ceratohyal with widened angle, and deformed or absent ceratobranchial cartilages. Chondrocytes exhibited a smaller size and aspect ratio and were aligned irregularly. In situ hybridization and RT-qPCR showed a decrease in barx1 and col2a1a expression, indicating abnormal cranial neural crest cell (CNCC) condensation and differentiation. CNCC proliferation and survival were also impaired in the mutants. Expression of FGF pathway components, including fgf8a, fgfr1, fgfr2, fgfr3, fgfr4, and runx2a, was decreased, implying a role for VWA1 in regulating FGF signaling. Our results demonstrate that VWA1 is essential for zebrafish chondrogenesis through effects on condensation, differentiation, proliferation, and apoptosis of CNCCs, and likely impacts chondrogenesis through regulation of the FGF pathway. [ABSTRACT FROM AUTHOR]