Hemifacial microsomia (HFM) presents a complex congenital anomaly characterized by the asymmetric underdevelopment of facial structures, predominantly affecting the ear, mouth, and mandible on one side of the face. This case study examines the intricacies of HFM through the presentation of a 23-year-old female with congenital deformities of the left ear and mandibular hypoplasia. Clinical and radiological evaluations revealed significant facial malformations, including mandibular hypoplasia, left temporomandibular joint fusion, and maxillary abnormalities, confirming the diagnosis of HFM. Management of HFM necessitates a multidisciplinary approach involving otolaryngologists, maxillofacial surgeons, orthodontists, and audiologists to comprehensively address functional and aesthetic concerns. Early diagnosis and intervention, along with psychosocial support, are essential for optimizing outcomes and improving the quality of life for individuals with HFM.

OBJECTIVE: This scoping review explores various parameters of the mandible in progressive facial asymmetry (FA) in hemifacial microsomia (HFM) patients, highlighting its relationship with sex, population, and age group.
METHODS: The review was based on a comprehensive search of PubMed, EBSCOhost, and Web of Science. Eligible studies that met the inclusion criteria form part of the selection study. The included studies were appraised using screening and quantitative criteria of mixed-method appraisal tools. The authors utilised a pre-set data extraction form to obtain information from the included studies.
RESULTS: Eleven studies met the inclusion criteria. The mandible parameters used were angular measurements, chin point, ramal height, body length, and total length. There was no relationship between FA and sex in HFM patients in the included studies. Most of the studies were comprised of European participants (55%), followed by Americans (36%) and Chinese (9%). The age groups included in the selected studies were categorised as dentition age (18%), early-to-middle childhood (18%), and varied ages (64%). The data presented in this review only pertains to the anomalous characteristics recorded on the affected side in HFM patients. No concomitant control data was recorded in this review.
CONCLUSIONS: An assessment of the included studies revealed that FA does not increase with age in HFM. Hence, FA is non-progressive in HFM patients. This information is relevant to diagnosing and managing HFM patients. More reports are needed on the progression of FA in HFM 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.

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.
METHODS: 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.
CONCLUSIONS: Understanding growth patterns is important to develop appropriate treatment protocols for correcting asymmetry in adult patients and to minimize secondary anomalies in growing patients.

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.

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.

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.

Pediatric temporomandibular joint (TMJ) disorders represent a broad range of congenital and acquired diagnoses. Dentofacial deformities, including facial asymmetry, retrognathism, and malocclusion, commonly develop. Compared with adult TMJ conditions, pain and articular disc pathology are less common. Accurate diagnosis is paramount in planning and prognostication. Several specific considerations apply in preparation for skeletal correction, including timing in relation to disease progression and growth trajectory, expectation for postcorrection stability, reconstructive technique as it applies to expected durability and need for future revision, management of occlusion, and need for ancillary procedures to optimize correction. This article reviews common conditions and treatment considerations.

BACKGROUND: To report a case of a 4-year-old patient with Goldenhar syndrome.
METHODS: 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.

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.