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ABSTRACT Background and Objectives Methods Results Conclusions Dermoid cysts are congenital anomalies that contain ectodermal elements such as teeth, bone, and nerves. The purpose of this study was to identify trends in the characteristics of dermoid cysts of the auricle and the demographics of the patient population they affect.A PubMed and EMBASE search for English‐language publications that included cases of dermoid cyst(s) of the auricle from database inception to October 2022 was performed.A total of 38 cases of dermoid cysts of the auricle were identified from 20 publications. The age, sex, and Fitzpatrick skin type of the patients, locations of the dermoid cysts, associated anomalies, treatment methods, and postoperative outcomes were examined. Patients' ages ranged from 0 to 63 years, with 27.6% (8/29) in the 0–17 age range. 56.8% (21/37) were reported as male. Dermoid cysts were frequently present on the postauricular surface (18/24, 75.0%) and on light skin (Fitzpatrick types I–III; 18/22, 81.8%). Unilateral dermoid cysts were more commonly reported on the right ear (17/22, 77.3%); only one patient had bilateral cysts. Associated anomalies included microtia, prominent ears, foot polysyndactyly, hemifacial microsomia, and cryptotia. All auricular dermoid cysts were managed with complete surgical excision, and no postoperative complications or recurrences were reported.Dermoid cysts of the auricle are reported more frequently in individuals with lighter skin; however, this is likely due to reporting bias. Complete surgical excision can be used to treat patients successfully, with a very low risk of complications and no need for preoperative imaging. [ABSTRACT FROM AUTHOR]

The authors aim to present an updated protocol for mandibular reconstruction in nongrowing patients with Pruzansky/Kaban type IIb/III congenital craniofacial microsomia with customized temporomandibular joint (TMJ) prosthesis to reduce facial nerve (FN) damage and improve surgical accuracy. This is illustrated (using 3 cases) and is based on preoperative mapping of the FN using MRI for better virtual surgical planning of custom-made TMJ prosthesis. Intraoperative FN mapping and monitoring, as well as verification of the final result with intraoperative cone-beam computed tomography (CBCT) and 3D-reconstructed images is also achieved. All 3 patients presented mild transient postoperative facial palsy due to surgical soft tissue stretching which resolved within 2 months of surgery. All patients presented proper occlusion and mouth opening without pain, with an average incisal opening of 38.8 mm (range 35.5–42 mm) at two months of follow-up. Moreover, superposition of intraoperative and preoperative 3D reconstruction images ensured surgical accuracy and avoided the need for a potential reintervention. In conclusion, the proposed surgical protocol for mandibular reconstruction with customized alloplastic TMJ prosthesis in nongrowing patients with type IIb/III Pruzansky-Kaban congenital mandibular hypoplasia may reduce FN morbidity, improve surgical accuracy and final outcomes. [ABSTRACT FROM AUTHOR]

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]

Objective: Craniofacial microsomia (CFM) is a broad clinical term used to describe a congenital condition most commonly involving the underdevelopment of the external ear, mandible, soft tissues, and facial nerve. Despite medical advances, understanding of the psychological health and healthcare experiences of individuals with CFM and their caregivers remains limited. This article describes a research program designed to address these knowledge gaps, and identify opportunities for psychosocial intervention and improved healthcare provision. Design: The Craniofacial microsomia: Accelerating Research and Education (CARE) research program aims to: 1) Conduct up to 160 narrative interviews with individuals and caregivers to validate a conceptual framework; 2) Administer an online international survey of up to 800 individuals with CFM and caregivers to identify predictors of psychological distress; 3) Perform up to 60 semi-structured interviews with healthcare providers and advocacy leaders to examine the extent to which current healthcare provisions address identified patient needs; and 4) Establish a participant registry to build a longitudinal database and develop an international community. Results: Teams in the USA and UK have been established, alongside an international, interdisciplinary Advisory Committee. Data analysis for Aim 1 is ongoing and informing the delivery of Aims 2-3. Aim 4 is also in development. A dedicated website serves as a recruitment tool, educational resource, and mechanism for engaging with the CFM community. Conclusions: The CARE program provides a comprehensive approach to understanding the experiences of individuals with CFM and their caregivers. Challenges encountered and lessons learned are shared for the benefit of the community. [ABSTRACT FROM AUTHOR]

This study reports three patients with Cat-eye Syndrome (CES), two of which present a previous clinical diagnosis of Craniofacial microsomia (CFM). Chromosomal microarray analysis (CMA) revealed a tetrasomy of 1,7 Mb at the 22q11.2q11.21 region, which is the typical region triplicated in the CES, in all patients. The most frequent craniofacial features found in individuals with CFM and CES are preauricular tags and/or pits and mandibular hypoplasia. We reinforce that the candidate genes for CFM features, particularly ear malformation, preauricular tags/pits, and facial asymmetry, can be in the proximal region of the 22q11.2 region. [ABSTRACT FROM AUTHOR]

Purpose: 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. Conclusion: 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. [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]

Goldenhar syndrome, a rare craniofacial malformation, is characterized by developmental anomalies in the first and second pharyngeal arches. Its etiology is considered to be heterogenous, including both genetic and environmental factors that remain largely unknown. To further elucidate the genetic cause in a five‐generation Goldenhar syndrome pedigree and exploit the whole‐exome sequencing (WES) data of this pedigree, we generated collapsed haplotype pattern markers based on WES and employed rare variant nonparametric linkage analysis. FBLN2 was identified as a candidate gene via analysis of WES data across the significant linkage region. A fbln2 knockout zebrafish line was established by CRISPR/Cas9 to examine the gene's role in craniofacial cartilage development. fbln2 was expressed specifically in the mandible during the zebrafish early development, while fbln2 knockout zebrafish exhibited craniofacial malformations with abnormal chondrocyte morphologies. Functional studies revealed that fbln2 knockout caused abnormal chondrogenic differentiation, apoptosis, and proliferation of cranial neural crest cells (CNCCs), and downregulated the bone morphogenic protein (BMP) signaling pathway in the zebrafish model. This study demonstrates the role of FBLN2 in CNCC development and BMP pathway regulation, and highlights FBLN2 as a candidate gene for Goldenhar syndrome, which may have implications for the selection of potential screening targets and the development of treatments for conditions like microtia‐atresia. [ABSTRACT FROM AUTHOR]

Copyright of Polish Otorhinolaryngological Review / Polski Przegląd Otorynolaryngologiczny (Index Copernicus) is the property of Index Copernicus International and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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]

Copyright of Türkiye Klinikleri Journal of Ophthalmology is the property of Turkiye Klinikleri and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Defects of the ascending ramus of the mandible, including the condylar head and neck or the whole temporomandibular joint (TMJ), are difficult to reconstruct. Reconstruction is mainly based on the use of alloplastic joint prosthesis, costochondral grafting, distraction osteogenesis of the dorsal part of the mandibular ramus, or osseous microvascular flaps of various origin. With the objective of developing a method that overcomes the restrictions of these methods, we recently introduced a sequential chimeric flap consisting of a lateral femoral condyle flap (LFC) and deep circumflex iliac artery flap (DCIA) for reconstruction of up to half of the mandible and the condylar head and neck. Methods: The chimeric flap was used in four patients with the following diagnoses: therapy-refractory osteomyelitis, extended recurrent odontogenic keratozyst, Goldenhar syndrome, and adenocarcinoma of the parotid gland. After a diagnostic workup, LFC and DCIA flaps were harvested in all patients and used in a sequential chimeric design for the reconstruction of the mandibular body and condylar head and neck. Results: Follow-up from at least 24 months up to 70 month after surgery showed a successful reconstruction in all four patients. The LFC provided a cartilaginous joint surface, allowing for a satisfactory masticatory function with a stable occlusion and unrestricted mouth opening and preserved or regained lateral and medial excursions in all patients. The DCIA allowed for a bony reconstruction anatomically resembling a non-atrophied mandibular body. No flap-related complications were observed. Conclusions: The sequential chimeric LFC and DCIA flap is an appropriate method for reconstructing up to half of the mandible and the condylar head and neck. It is suitable in cases where alloplastic joint replacement cannot be used or where other methods have failed. Due to the necessity of harvesting two flaps, the burden of care is increased, and a careful indication is required. The technique is reserved for maxillofacial surgeons who have already gained significant experience in the field of microsurgery. [ABSTRACT FROM AUTHOR]

Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar fissure was found at the clivus in a head computed tomography of an 18-yearold female patient diagnosed with hemifacial microsomia (HFM). Image analysis of this patient showed shortening of the ramus of the right mandible along with medial displacement of the right temporomandibular joint and hypoplastic right maxilla. In addition, observation of the clivus showed a cleft between the basioticum and basioccipital bones at the level of the pharyngeal tubercle on the right side. This cleft was identified as TBC. Clival variations, TBC included, attributed to HFM have never been reported. This report draws attention to the complex relationship between abnormal development of clivus and HFM syndrome, and sheds light on a possible genetic and molecular association between these two conditions. [ABSTRACT FROM AUTHOR]

ObjectiveMethodsResultsConclusionsTo describe in detail the lacrimal drainage system anomalies and review of literature in patients with Goldenhar syndrome, Rubinstein-Taybi syndrome (RTS), and Ectodermal-Ectrodactyly-Clefting syndrome (EECS), their management and outcomes.A retrospective chart review from January 2011–June 2023 of all cases presenting to the Dacryology clinic with Goldenhar syndrome, RTS, and EECS was obtained. Data collected included demographics, laterality, clinical presentations, proximal and distal lacrimal drainage anomalies, associated systemic features, management, and outcomes.Eight children with Goldenhar syndrome (n = 13), three with RTS (n = 5) and three with EECS (n = 5) presented with lacrimal drainage system involvement. Cases with Goldenhar syndrome showed male predominance (5/8), and the mean age at presentation was 14.75 months. Four cases had simple CNLDO, seven cases with complex CNLDO (4 - buried probe and 3 - atonic sacs) and a single neonate presented with bilateral dacryocele. Patients with RTS presented with mean age of 36.33 months with male predominance. Probing under endoscopic guidance explored the anatomy thoroughly and those with altered nasal anatomy increased the probability of complex CNLDO. Those with EECS (n = 5) presented with a greater involvement of proximal lacrimal drainage system compared with Goldenhar syndrome and RTS, including anomalies like punctal agenesis, incomplete punctal canalization (IPC), ectopic puncta, canalicular stenosis, and complex CNLDO.A step-wise approach to assessing the proximal and lacrimal drainage system in those affected with craniofacial malformations and addressing them can result in satisfactory outcomes for the majority of patients. [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]

This article discusses the clinical experience of performing simultaneous bilateral Osia implantation in children with microtia, a condition characterized by underdeveloped or absent external ears. The Osia implant is a new generation of an active transcutaneous bone-anchored hearing implant that utilizes a piezoelectric transducer fixed to a titanium implant. The article describes the surgical technique, including considerations for anatomical variations, future auricular reconstruction, and symmetry of audio processors. The authors emphasize the importance of preventing pressure necrosis and post-operative infection. The results of the procedure were successful, with no complications reported in the two patients described in the study. The authors conclude that this approach is safe, simple, and effective for addressing hearing impairment in children with microtia and may also be applicable to non-microtia patients with bilateral conductive deafness. [Extracted from the article]

Goldenhar syndrome, a rare congenital anomaly, manifests as craniofacial malformations often necessitating intricate surgical interventions. These procedures, though crucial, can expose patients to diverse postoperative complications, including hemorrhage or infection. A noteworthy complication is stroke, potentially linked to air embolism or local surgical trauma. We highlight a case of a male patient, aged 20 years, who experienced a significant postoperative complication of an ischemic stroke, theorized to be due to an air embolism, after undergoing orthognathic procedures for Goldenhar syndrome. The patient was subjected to LeFort I maxillary osteotomy, bilateral sagittal split ramus osteotomy of the mandible, and anterior iliac crest bone grafting to the right maxilla. He suffered an acute ischemic stroke in the left thalamus post-surgery, theorized to stem from an air embolism. Advanced imaging demonstrated air pockets within the cavernous sinus, a rare and concerning finding suggestive of potential air embolism. This case underscores the intricate challenges in treating Goldenhar syndrome patients and the rare but significant risk of stroke due to air embolism or surgical trauma. Limited literature on managing air embolism complications specific to Goldenhar syndrome surgeries exists. Generally, management includes immediate recognition, positional adjustments, air aspiration via central venous catheters, hyperbaric oxygen therapy, hemodynamic support, and high-flow oxygen administration to expedite air resorption. Our patient was conservatively managed post-surgery, and at a 3-month neurology follow-up, he showed significant improvement with only residual right arm weakness. It emphasizes the imperative of a comprehensive, multidisciplinary approach. [ABSTRACT FROM AUTHOR]

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]

Copyright of Gyermekgyógyászat is the property of Semmelweis Kiado and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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 complex and rare condition known as Goldenhar syndrome (GHS) is characterized by mandibular hypoplasia, ear abnormalities, ocular dermoid and vertebral problems, and hemi facial macrosomia. The age of the patient and any systemic clinical manifestations will determine the treatment plan, which frequently calls for a multidisciplinary approach. This case study details a 9-year-old boy who presented to the Department of Pediatric Dentistry, Dr R Ahmed Dental College and Hospital, Kolkata, with ear tags, ocular dermoid, and mandibular hypoplasia. The diagnosis was made using mainly the clinical features. Since GHS is a developmental disorder that can affect a patient’s quality of life in many areas, treatment must begin as soon as the child is born.

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.

Goldenhar syndrome, also called oculoauriculovertebral dysplasia, is characterized by craniofacial, central nervous system, cardiac, renal, and vertebral anomalies. It occurs due to the faulty unilateral development of vertebral arches. Patients presenting for surgery are usually in the pediatric age group. General anesthesia is the preferred mode of anesthesia considering the type of surgery, age of the patient, and vertebral anomaly in this patient group. The first and foremost consideration while anesthetizing these patients is the anticipated difficult airway. Frequently encountered airway abnormalities in these patients are micrognathia, retrognathia, mandibular dysplasia, craniovertebral anomalies leading to limited neck flexion and cervical spine instability, decreased thyromental distance, fascial asymmetry, cleft lip and palate, high arched palate, dental abnormalities, and temporomandibular joint abnormalities. Difficult airways often come disguised as syndromes, and thorough pre-operative evaluation along with preparation for the worst scenarios is a must. We have a myriad of alternative airway management equipment at our disposal. Adequate knowledge is a must for their best use.

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]

This study aimed to probe into the anatomic course of inferior alveolar nerve canal (IANC) in hemifacial microsomia (HFM) on a large scale, morphological observations and further quantitative study were performed. Patients were classified by Pruzansky–Kaban classification. The anatomic course of IANC was analyzed morphologically with three-dimensional (3D) imaging software among 248 patients. Seven distances between fixed landmarks on both sides were measured for 236 patients. The differences between affected and unaffected sides were compared. Significant differences were found in the entrance (P < 0.001), route (P < 0.001), and exit (P < 0.05) of IANC in type IIb and III HFM. The higher the degree of mandibular deformity was, the higher the incidence of IANC variation was (P < 0.05). The distances in the horizontal aspect of IANC including from mandibular foramen to mental foramen (P < 0.05) and from mental foramen to gonion (P < 0.05) were significantly shorter on the affected side. Abnormalities of the anatomical course of IANC exist in patients with Pruzansky–Kaban type IIb and type III HFM. The reduction of IANC on the affected side in the horizontal distance is more obvious. Three-dimensional imaging assessment is recommended before surgery. [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]

Background: Mandibular distraction osteogenesis (MDO) is a major part of the treatment for hemifacial microsomia patients. Due to the narrow surgical field of the intraoral approach, osteotomy accuracy is highly dependent on the surgeons' experience. Electromagnetic (EM) tracking systems can achieve satisfying accuracy to provide helpful real-time surgical navigation. Our research team developed an EM navigation system based on artificial intelligence, which has been justified in improving the accuracy of osteotomy in the MDO in animal experiments. This study aims to clarify the effect of the EM navigation system in improving the MDO accuracy for hemifacial microsomia patients. Methods: This study is designed as a single-centered and randomized controlled trial. Altogether, 22 hemifacial microsomia patients are randomly assigned to the experiment and control groups. All patients receive three-dimensional CT scans and preoperative surgical plans. The EM navigation system will be set up for those in the experiment group, and the control group will undergo traditional surgery. The primary outcome is the surgical precision by comparing the osteotomy position of pre- and postoperative CT scan images through the Geomagic Control software. The secondary outcomes include mandibular symmetry (occlusal plane deviation angle, mandibular ramus height, and body length), pain scale, and complications. Other indications, such as the adverse events of the system and the satisfactory score from patients and their families, will be recorded. Discussion: This small sample randomized controlled trial intends to explore the application of an EM navigation system in MDO for patients, which has been adopted in other surgeries such as orthognathic procedures. Because of the delicate structures of children and the narrow surgical view, accurate osteotomy and protection of nearby tissue from injury are essential for successful treatment. The EM navigation system based on artificial intelligence adopted in this trial is hypothesized to provide precise real-time navigation for surgeons and optimally improve patient outcomes, including function and aesthetic results. The results of this trial will extend the application of new navigation technology in pediatric plastic surgery. Trial registration: Chinese Clinical Trial Registry ChiCTR2200061565. Registered on 29 June 2022. [ABSTRACT FROM AUTHOR]

Introduction: Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM. Method: All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere. Results: Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited. Conclusions: Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies. [ABSTRACT FROM AUTHOR]

Goldenhar syndrome, also called oculoauriculovertebral dysplasia, is characterized by craniofacial, central nervous system, cardiac, renal, and vertebral anomalies. It occurs due to the faulty unilateral development of vertebral arches. Patients presenting for surgery are usually in the pediatric age group. General anesthesia is the preferred mode of anesthesia considering the type of surgery, age of the patient, and vertebral anomaly in this patient group. The first and foremost consideration while anesthetizing these patients is the anticipated difficult airway. Frequently encountered airway abnormalities in these patients are micrognathia, retrognathia, mandibular dysplasia, craniovertebral anomalies leading to limited neck flexion and cervical spine instability, decreased thyromental distance, fascial asymmetry, cleft lip and palate, high arched palate, dental abnormalities, and temporomandibular joint abnormalities. Difficult airways often come disguised as syndromes, and thorough preoperative evaluation along with preparation for the worst scenarios is a must. We have a myriad of alternative airway management equipment at our disposal. Adequate knowledge is a must for their best use. [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: Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM. Methods: This is a case–control study conducted with patients monitored at a medical genetics service and compared to a control group of patients without evidence of malformations, born in a mother and child hospital, both located in Porto Alegre, Southern Brazil. Mothers' data were obtained using questionnaires and by reviewing medical records. The sample consisted of 43 patients with CM (cases) and 129 patients without evidence of malformations (controls), paired by sex, totaling three controls for each case. Data analysis was performed using the two‐tailed Fisher's exact test, Pearson's chi‐square test, and the t‐test. Results: We identified several factors associated with the development of CM, including the use of abortion methods by the mothers of these babies (p =.001), maternal diabetes (p =.009), advanced maternal age (p =.035), and a history of vaginal bleeding (p <.001). Furthermore, these patients exhibited a tendency to be born prematurely (p =.027), with low birth weight (p =.007), and lower Apgar scores (p =.003) when compared to healthy infants. Using a multivariate model, the use of abortion methods (p =.003) and vaginal bleeding (p =.032) remained independently associated with craniofacial microsomia. Conclusions: We have identified several risk factors for the development of CM, including a propensity for premature birth, low birth weight, and respiratory difficulties. Additionally, women of advanced maternal age and/or those who used abortion methods and/or have diabetes have a higher risk of giving birth to a baby with CM. This information can be valuable in clinical practice, especially for the prevention of future cases. [ABSTRACT FROM AUTHOR]

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]

Aplasia of the inferior rectus and inferior oblique muscles is extremely rare. Failure of the normal embryologic development of the inferior mesodermal complex can lead to agenesis of inferior rectus, inferior oblique, and lower sections of the lateral rectus muscles. This rare condition is usually seen in association with craniofacial syndromes or in conjunction with microcornea, microphthalmos, Axenfeld-Rieger syndrome, and coloboma. The usual treatment for this condition is a reverse Knapp procedure to improve the vertical alignment; however, this procedure can lead to complications, such as anterior segment ischemia, undercorrection, and torsional problems. To our knowledge, unilateral inferior rectus and inferior oblique muscle aplasia has not been described previously in a patient with congenital facial nerve palsy and optic nerve hypoplasia. In the present case, the patient was successfully treated with a modified minimally invasive horizontal rectus muscle transposition procedure. [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]

In this report, we describe an unusual case of progressive hemifacial atrophy or Parry-Romberg syndrome in a 10-year-old girl with progressive hemifacial microsomia and limb anomalies who had brain magnetic resonance imaging (MRI) findings of white matter hyper-intensities. Patients typically present with neurological manifestations such as epilepsy, facial pain, and migraines and ophthalmological symptoms in conjunction with white matter lesions. The patient demonstrated normal cognition and psychomotor development despite the presence of white matter lesions in her frontal lobe that is commonly associated with neurological symptoms. This report brings attention to the complicated relationship between facial, limb and brain imaging findings in Parry-Romberg syndrome and differentiates it from hemifacial microsomia syndrome.

Abstract Background Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or less severe extracranial anomalies. A variety of supraglottic malformations may be observed, including mandibular hypoplasia, mandibular asymmetry and micrognathia. Subglottic airway stenosis (SGS), which can cause difficulties in airway management during the perioperative period, is seldom emphasized in literature descriptions of Goldenhar syndrome, but can be clinically significant. Case presentation An 18-year-old female with a history of Goldenhar syndrome presented for placement of a right mandibular distractor, right retroauricular dilator, and stage I transfer of a prefabricated expanded flap under general anesthesia. During tracheal intubation, the endotracheal tube (ETT) met resistance unexpectantly when attempting to pass through the glottis. Subsequently, we attempted the procedure with a smaller size ETT but again met resistance. With fiberoptic bronchoscope, we found that the whole segment of the trachea and bilateral bronchi were obvious narrow. Given the finding of unexpected severe airway stenosis and the associated risks with proceeding with the surgery, the operation was cancelled. We removed the ETT once the patient was fully awake. Conclusions Anesthesiologists should be aware of this clinical finding when evaluating the airway of a patient with Goldenhar syndrome. Coronal and sagittal measurements on computerized tomography (CT) and three-dimensional image reconstruction can be used to evaluate the degree of subglottic airway stenosis and measure the diameter of the trachea.

Background: Goldenhar Syndrome is a rare congenital condition, typically characterized by craniofacial abnormalities and vertebral malformations. Due to its rare and complex nature, the etiology is unconfirmed, resulting in parental uncertainty and subsequent emotional sequelae. Clinical manifestations have been researched but few studies have explored parental wellbeing and Quality of Life (QoL). In this qualitative study, we explore parental views of the challenges and lived experience of raising a child with Goldenhar Syndrome. Methods: Ten biological parents (five mothers and five fathers), recruited at the Goldenhar UK Conference, took part in audio-recorded, semi-structured interviews. Interviews explored emotional wellbeing, views surrounding causation, support accessed, challenges faced, experience of stigma and future outlooks. Reflexive thematic analysis was employed, and transcripts were subject to deductive and inductive coding. Results: Seven themes were identified: support networks (Goldenhar UK), rollercoaster of emotion; gendered coping; uncertainty; societal reactions; coping with challenge and acceptance. Conclusions: This is the first-time the life perspectives of parents, raising a child with Goldenhar Syndrome, have been explored via interviews. We have unearthed prominent issues that impact parental QoL including isolation and distress at the point of diagnosis, and throughout the multidisciplinary health journey. We have also established significant indicators of the ongoing QoL challenges faced by young people with Goldenhar Syndrome. Future work is underway exploring these issues further with teenagers, young people and adults with Goldenhar to develop a conceptual framework of their QoL. This will be used to develop a bespoke patient reported outcome (PRO) to give voice to the challenges children and young adults face during their medical journey.