Loeys-Dietz syndrome and Goldenhar syndrome unveiled together.

Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome). On detailed clinical evaluation, he met Beighton's criteria and was diagnosed with arterial tortuosity. Further molecular testing confirmed the diagnosis of Loeys-Dietz syndrome type II.Loeys-Dietz syndrome is characterised by aortic root enlargement or type A dissection with or without other vascular malformations and facial midline defects. Molecular testing is required to establish the diagnosis because of overlapping features with other connective tissue disorders.

Analysis of the effect and influencing factors of EarWell auricle orthosis in the treatment of congenital auricle deformity in children.

OBJECTIVE: To observe the efficacy of EarWell ear orthosis in treating children with different types of ear deformities. METHODS: We selected 80 children aged <6 weeks with ear deformities (110 ears: 15, 30, 21, 25, and 19 ears with prominent ear, lop ear, cup ear, cryptotia, and helical rim deformity, respectively). Differences in effectiveness rate, treatment time, and incidence of complications among children with different types of auricular deformities were compared. Recurrence rates at 1 and 3 months after the treatment were compared. RESULTS: The overall success rate was 92.73 %, and the treatment effectiveness rate did not differ significantly among the children with different types of auricular malformations (P > 0.05). The correction time of the helical rim deformity was the shortest, and the correction times of the prominent and cup ears were significantly longer than those of the other groups (P < 0.05). The incidence of complications associated with helical rim deformity and lop ear was lower, and the incidence of prominent and cup ear complications was significantly higher than that in the other groups (P < 0.05). The recurrence rate in children with prominent and cup ears was higher at 1 and 3 months after correction, and children with a lop ear and cryptotia showed no recurrence at 1 and 3 months after treatment, which correlated with the correction time, incidence of complications, and recurrence rate (P < 0.05) CONCLUSION: The EarWell auricle orthosis is an effective treatment in children with auricular morphological malformations. Correction time, complication rate, and recurrence rate were related to the malformation type.

[Analysis of risk factors for congenital auriclar deformity and its different types].

Objective:To Explore the clinical characteristics,risk factors,and differences in risk factors for different types of congenital auricular deformities,in order to provide theoretical basis for precise prevention and control of congenital auriclar deformity. Methods:Full-term newborns born in the Second Affiliated Hospital of Zhengzhou University from May 2022 to January 2023 were screened for auricle malformation, general information and data were collected,,and high-risk factors were investigated withself-made questionnaire.Using a case-control study method,newborns with auriclar deformities were selected as the case group and those without auriclar deformities during the same period were selected as the control group.A case-control study was conducted to analyze the incidence rate,high-risk factors,and differences in high-risk factors for different types of auricle deformities. Results:A total of 1 758 newborns （3 516 ears） were included in this study,including 562 newborns（927 ears） with auriclar deformities,the incidence of congenital malformations of the auricle is 26.37%.Among them,289 ears （8.22%） were helical rim deformity,244 ears （6.94%） were lidding/lop ear,166 ears （4.72%） were mixed deformities,131 ears （3.73%） were prominent/cup ear,79 ears （2.25%） were Stahl's ears,16 ears （0.46%） were abnormal conchal crus,and 2 ears （0.06%） were cryptotia.Maternal history of infection in early pregnancy（OR=1.513，95%CI 1.119-2.045）,previous miscarriage history（OR=1.300，95%CI 1.049-1.613）,and abnormal pregnancy（OR=1.278，95%CI 1.032-1.582） are risk factors for congenital auricular malformations.There was no statistically significant difference in the history of infection（χ²=1.877，P=0.391）,previous miscarriage（χ²=4.706，P=0.095）,and abnormal pregnancy（χ²=5.026，P=0.081） among mothers with helical rim deformity,lidding/lop ear,and mixed deformities. Conclusion:The incidence rate of congenital auricle deformity is high, with common malformations such as helical rim deformity, lidding/lop ear,and mixed deformities. Congenital auricular deformity is caused by various factors, the same risk factor has roughly the same impact on different types of morphological abnormalities.

A publicly available newborn ear shape dataset for medical diagnosis of auricular deformities.

Early and accurate diagnosis of ear deformities in newborns is crucial for an effective non-surgical correction treatment, since this commonly seen ear anomalies would affect aesthetics and cause mental problems if untreated. It is not easy even for experienced physicians to diagnose the auricular deformities of newborns and the classification of the sub-types, because of the rich bio-metric features embedded in the ear shape. Machine learning has already been introduced to analyze the auricular shape. However, there is little publicly available datasets of ear images from newborns. We released a dataset that contains quality-controlled photos of 3,852 ears from 1,926 newborns. The dataset also contains medical diagnosis of the ear shape, and the health data of each newborn and its mother. Our aim is to provide a freely accessible dataset, which would facilitate researches related with ear anatomies, such as the AI-aided detection and classification of auricular deformities and medical risk analysis.

Quality of life after otoplasty for prominent ears in children

Prominent ears are a common congenital malformation and are associated with low self-esteem, social isolation and diminished school performance. Our goal was to evaluate the influence of otoplasty on children’s quality of life (QoL).Material and methodsPatients submitted to otoplasty from 2016 to 2018 were summoned for a reevaluation. Seventy patients and respective caregivers agreed to participate. Surgical, demographic and clinical data were reviewed from electronic registries.Two sets of inquiries were performedPediatric Quality of Life Inventory 4.0 (for parent and child) and an adaptation of the Glasgow Children Benefit Inventory (GCBI-b). Fifteen patients were excluded for incomplete inquiries.ResultsFifty-five patients were included, 70.9% were males. Median age at surgery was 7.7 ± 3.3 years. Aesthetic dissatisfaction was the main previous negative experience. Median self-report quality of life was 85.6% and parent-report was 86.9%. Median GCBI-b was +20.5, indicating an improvement in patients’ QoL. Bullying and high parental expectations for life change post-surgery were predictive of higher GCBI-b scores (p < 0.05). Ninety-six percent of parents would recommend surgery to other children.ConclusionsOtoplasty is a valid treatment option for prominent ears in children,improving not only aesthetics but also health-related QoL. (AU)

Auricular fistula: a review of its clinical manifestations, genetics, and treatments.

Auricular fistula is a common congenital auricular malformation, characterized as a small opening in the skin and a subcutaneous cyst. It can be classified in different ways according to positions of pits and directions of fistula tracts. The term preauricular fistula and variant type of preauricular fistula (postauricular fistula) are used. Auricular fistula prevalence varies in countries and populations, and its actual prevalence is presently unknown. The most accepted and widely cited theory of auricular fistula etiopathogenesis is an incorrect or incomplete fusion of six auricular hillocks that are mesenchymal proliferations. Auricular fistula can occur either sporadically or genetically. The pattern in inherited cases is thought to be incomplete autosomal dominant, with variable expressions, reduced penetrance, and inapparent gender differences. Auricular fistula has several forms and is reported as being a component of many syndromes. In the field of genetics, currently, there is no related review to comprehensively summarize the genetic basis of auricular fistula and related disorders. This article provides a comprehensive review of auricular fistula, especially congenital preauricular fistula, which accounts for the majority of auricular fistula, by summarizing the clinical manifestations, histological and embryological development, genetics, examinations, and treatments, as well as syndromes with auricular fistula.

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral spectrum (OAVS). Main clinical findings include widely spaced eyes, epibulbar dermoid, broad nose, mandibular hypoplasia, and preauricular tags. Here, we describe a case series of 32 Brazilian individuals with OAFNS and review the literature ascertaining individuals presenting phenotypes compatible with the diagnosis of OAFNS, aiming to refine the phenotype. This series emphasizes the phenotypic variability of the OAFNS and highlights the occurrence of rare craniofacial clefts as a part of the phenotype. The ectopic nasal bone, a hallmark of OAFNS, was frequent in our series, reinforcing the clinical diagnosis. The absence of recurrence, consanguinity, chromosomal, and genetic abnormalities reinforces the hypothesis of a nontraditional inheritance model. The phenotypic refinement provided by this series contributes to an investigation regarding the etiology of OAFNS.

Ear reconstruction stage I: Minor modifications in sculpting the auricle support using the 7th and 8th costal cartilages.

BACKGROUND: The verisimilitude of the reconstructed auricle and its long-term stability largely depends on the framework sculpting. This study described three kinds of minor modifications based on Firmin's way of sculpting the auricle framework and reported the clinical outcomes achieved with them. METHODS: We conducted a retrospective study of congenital microtia patients undergoing detail-improved auricular reconstruction from June 2016 to June 2020. The three kinds of minor modifications included: (1) fabricating the base frame using the 7th costal cartilage, (2) fabricating the helix and the antihelix complex using the 8th costal cartilage, and (3) fabricating the helix using the combination of the 8th and 9th costal cartilage. RESULTS: Ninety-eight patients (aged 9-27 years, 62.2% male) were included. Ninety-five patients (97.0%) adopted minor modifications 1, 2, and 3 patients (3.0%) adopted minor modifications 1, 2, and 3. All patients achieved an excellent auricle appearance and a well-laid foundation for subsequent operations. During the follow-up period, 89 patients (90.8%) were satisfied with the reconstructed auricles, 6 (6.1%) complained of hypertrophic scars in the retroauricular sulcus or pigmentation in the skin graft area, and 3 (3.1%) developed surgery-related complications. CONCLUSIONS: Three minor modifications of the auricle framework sculpting can make more satisfactory use of cartilage and adjust with the flexibility of the reconstructed auricle in different situations, making it similar to the contralateral auricle, thus, improving patients' satisfaction.

Inheritance analysis and family history for microtia: A hospital-based study in China.

OBJECTIVES: Microtia is a congenital anomaly of the outer ear. Although genetic and environmental factors could play a role, no consensus has been established on the pathogenesis and cause of this condition. In this study, we surveyed the frequency and pattern of family history in patients with microtia in a Chinese specialty clinic population. METHODS: We evaluated data from 672 patients (mean age = 9.2, male-to-female ratio = 2.6:1) with microtia admitted to the Department of Auricular Reconstruction at the Plastic Surgery Hospital of Peking Union Medical College from December 2014 to February 2016. Family history of congenital ear anomalies across three generations was recorded. Pearson chi-square test or Fisher exact test was used to test the associations between the characteristics of microtia and hereditary features. RESULTS: A family history of auricle anomalies was identified in 202 patients (30.1%), of whom, 95 families showed vertical transmission, 14 families skipped a generation, and 120 families showed family aggregations. The incidence of family history varied with grades of microtia (P = 0.001). Patients with preauricular tags or pits (38.3%) had a higher familial incidence of microtia than those with simple microtia (24.1%) (P < 0.001). CONCLUSION: Patients with a lower grade of microtia demonstrated a higher incidence of family history. Patients with microtia had significantly more relatives with preauricular tags or pits. Microtia and preauricular tags or pits are different manifestations of the same defect, and their significant concurrency among relatives suggests that a considerable proportion of microtia is inherited and could recur with varying degrees of severity in other family members.

The role of MRI in the prenatal diagnosis and classification of fetal microtia.

OBJECTIVE: To investigate the role of MRI in the diagnosis and classification of fetal microtia. METHODS: Ninety-five fetuses with suspected microtia based on ultrasound and MRI performed within 1 week were enrolled in this study. The diagnosis based on MRI was compared with postnatal diagnosis. Among the microtia cases suspected on the basis of MRI, mild and severe cases were further classified. In addition, external auditory canal (EAC) atresia was evaluated by MRI in 29 fetuses with a gestational age > 28 weeks, and the accuracy of MRI in the diagnosis and classification of microtia was determined. RESULTS: Of 95 fetuses, 83 were considered to have microtia on the basis of MRI, 81 were confirmed to have microtia, and 14 were found to be normal according to postnatal diagnosis. Among 190 external ears in 95 fetuses, 40 ears were suspected to have mild microtia, and 52 ears were suspected to have severe microtia on the basis of MRI. According to the postnatal diagnosis, mild and severe microtia were confirmed in 43 and 49 ears, respectively. Among the 29 fetuses with a gestational age > 28 weeks, 23 ears were suspected to have EAC atresia according to MRI and 21 ears were ultimately confirmed to have EAC atresia. The accuracy of MRI in diagnosing microtia and EAC atresia was 93.68% and 93.10%, respectively. CONCLUSION: MRI shows good performance in diagnosing fetal microtia and has the potential to evaluate its severity on the basis of classification and EAC status. CLINICAL RELEVANCE STATEMENT: This study was aimed at investigating the role of MRI in the diagnosis and classification of fetal microtia. MRI shows good performance and can help evaluate microtia severity and EAC atresia, thus allowing for better clinical management. KEY POINTS: • MRI is a useful adjunct to prenatal ultrasound. • MRI has a higher accuracy rate than ultrasound in diagnosing fetal microtia. • The accurate classification of fetal microtia and the diagnosis of external auditory canal atresia through MRI may help guide clinical management.

Reconstruction of the Deformed Tragus Accompanied by Accessory Auricle.

BACKGROUND: Accessory auricles are common congenital external ear malformations. However, it remains challenging to treat a complicated accessory auricle and reconstruct the involved tragus. OBJECTIVES: In this study the aim was to present a new classification of accessory auricles and the surgical management of each type. METHODS: We retrospectively reviewed the records of 110 patients who underwent accessory auricle surgery. The accessory auricle was classified by 3 types, according to its morphology and relationship with the tragus: Types I, II, and III. The type III accessory auricle was divided into 3 subtypes: IIIa, IIIb, and IIIc. The surgical techniques utilized varied among the different types. RESULTS: The total number of accessory auricles in 110 patients was 149. Type I was the most common type (52.3%), followed by types II (31.5%) and III (16.1%). Among the type III subtypes, type IIIa was observed in 12 (8.1%), type IIIb in 3 (2%), and type IIIc in 9 (6%) ears. None of the patients experienced short-term complications. Three patients (4 ears) showed mild hypertrophic scarring. Three patients (3 ears) showed a smaller tragus than the normal side. The average score for aesthetic outcomes was 3.7 points on a 4-point Likert scale. CONCLUSIONS: Classification of accessory auricles provides guidance for surgery. Different surgical techniques were employed based on the type of accessory auricle. The final incision at the edge of the reconstructed tragus provided an aesthetically pleasing outcome.

Update on congenital ear molding.

PURPOSE OF REVIEW: Congenital ear deformities are characterized by distorted, but still present, landmarks of the auricle. Interventions include early treatment with ear molding or delayed surgical treatment. The purpose of this review is to provide an update on the latest information related to ear molding for congenital ear deformities. RECENT FINDINGS: Various ear molding techniques date back to the 1980s, but with the availability of commercially available molding systems, interest and use has blossomed in recent years. As more longitudinal research results are obtained, ear molding has been proven to be a highly effective treatment, although the best technique and length of treatment remains unclear. SUMMARY: While it is clear that earlier intervention is ideal, due to lack of public awareness, patients often present later, and it remains controversial what age to offer ear molding interventions to and still expect success. Ear molding interventions are becoming increasingly covered by insurance due to evidence of preventing long-term psychological morbidities and the need for future surgical interventions.

An Optimizing Surgical Procedures for Correcting Severe Constricted Ears: Helix Costal Cartilage Scaffold Combined With V-Y Advanced Flap.

PURPOSE: A constricted ear is a deformity that is distinguished by curling of the upper portion of the ear, which includes the helix, scapha, and antihelix. The treatment for severely constricted ears seems to be quite invasive. To reduce invasiveness and fully utilize the folded cartilage, the authors used a helix costal cartilage scaffold combined with a single V-Y advanced flap in the correction of Tanzer type IIB constricted ear deformity to investigate the clinical effect. MATERIALS AND METHODS: From 2020 to 2021, autologous costal cartilage helix stent combined with local V-Y advanced flap was applied to correct the constricted ear malformation in 18 patients admitted to the Plastic Surgery Hospital of the Chinese Academy of Medical Sciences. RESULTS: All patients were followed for a duration of 6 to 12 months (average 7 months). Reconstructed auricles were cosmetically satisfying, with a natural-looking helix and enlarged cavum conchae cavity, as well as auricle sizes that were close to normal and near symmetry between both ears. CONCLUSIONS: With satisfactory clinical results, our technique can be used to repair types IIB cup ear deformities. It has a broad range of practical applications.

Vertical mattress suture applied as "tension band fixation" for the antihelix creation and prominent ear treatment: 104 case reports.

BACKGROUND: Prominent ears were the most common auricular deformity. Different surgical techniques, such as cartilage-cutting techniques and suturing techniques, are available for treatment. The horizontal mattress suture technique, represented by the Mustard technique, is widely accepted, while the vertical mattress suture technique is rarely discussed in otoplasty. METHOD: A total of 104 cases of prominent ear deformities were treated from January 2017 to December 2020. Several hypothetical "tension bands" perpendicular to the natural curvature of the antihelix were introduced for the surgical design and determination of the position of the antihelix fixation, and vertical mattress sutures were placed accordingly for the auricular cartilage fixation. RESULT: Follow-up ranged from 3 months to 2 years. No complications, such as hematoma, infection, or poor wound healing, were observed. Three patients had recurrence within two months post operation, and one complained about the overfolded antihelix. Three cases had suture exposure, but the shape of the auricle was not affected after suture removal. The surgical result was evaluated according to the overall shape of the auricle, including the shape of the antihelix, the improvement of the prominent, the surgical marks, and the bilateral symmetry. A total of 98 patients (94.23%) rated the results as "very satisfactory" or "satisfactory". CONCLUSION: The vertical mattress suture applied as "tension band fixation" could provide stable cartilage fixation with the natural appearance of the antihelix formation. In addition, the technique could fit a wide range of indications with a low risk of complication and reoccurrence.

Nonsurgical Creation of an Auriculocephalic Sulcus in Children With Congenital Auricular Deformities.

Nonsurgical correction of congenital auricular deformity is known to be effective in newborns. In this study, the authors investigated factors influencing the outcome of nonsurgical or surgical correction of the auriculocephalic sulcus, an important auricular structure and one that is necessary for wearing glasses or a mask. A total of 80 ears (63 children) were splinted using a metallic paper clip and thermoplastic resin in our outpatient clinic between October 2010 and September 2019. The ears were divided into a group, in which the auriculocephalic sulcus was formed nonsurgically (n =5 6) and a group, in which surgery was needed (n = 24). The authors compared the clinical characteristics of the deformities, whether cryptotia affected the superior or inferior crus, and whether constricted ears were Tanzer group IIA or IIB between the two study groups by retrospective chart review. There was a significant correlation between the age, at which ear-molding treatment was initiated and outcome ( P < 0.001). The optimal cutoff value for age, before which ear-molding treatment should be initiated was 7 months. Inferior crus-type cryptotia was corrected adequately by splinting, but all Tanzer group IIB constricted ears needed surgical treatment. Earlier initiation of ear-molding treatment is recommended, preferably before 6 months of age. Nonsurgical treatment is an effective intervention for the creation of the auriculocephalic sulcus in ears with cryptotia and Tanzer group IIA constricted ears but cannot correct for an inadequate amount of skin over the auricular margin or a defect in the antihelix.

3D printed bionic ear and microtia-anotia: Medical and forensic implications.

Advances in science and technology result in continuous upgrading of the medical and clinical fields. These upgrades have been beneficial to many patients suffering from congenital and developmental diseases causing compromised functionality as well as the structural integrity of the affected organs. One such congenital anomaly is the microtia-anotia spectrum, which results in deformities of the external ear, affecting the hearing capability of an individual. The collaboration and integration of electronics in human biology are exemplified by the development of a 3D printed cyborg bionic ear from the patient's own cells, which is implanted to ameliorate microtia and improve the patient's hearing capacity. Since the late nineteenth century, forensic scientists have explored the external ear, establishing the significance of ear biometrics in the identification process. Similarly, ear prints can also play an important role in identifying the felon of a crime. In this regard, we examine the structure and functionality of implanted ears. This communication is an attempt to enlighten investigators on the forensic importance and limitations of the use of bionic ears for identification.

Earlobe Correction of the Pierced Ear: A Systematic Review of the Literature and Principles for Surgical Reconstruction.

Background: Surgical reconstruction of the earlobe after gauge ear piercing can be challenging especially in cases of large defects. Objective: By performing a systematic review of the current literature, we aimed to identify available surgical approaches for earlobe reconstruction after gauge piercing and provide a surgical classification system with regard to defect size. Methods: A literature review was performed including MEDLINE and PubMed databases to identify articles describing reconstruction after stretched earlobe piercing. Articles referring to traumatic, congenital, and acquired cleft deformities were excluded. Surgical techniques were summarized and categorized with regard to different defect sizes. Drawings of each method were performed. Results: A total of 17 different surgical approaches were found and described. Based on the authors' descriptions of each technique, a classification system for small to medium, large, and extralarge defects was established and special benefits of each method were highlighted. Conclusion: A simple classification of available techniques for stretched earlobe reconstruction with regard to defect size might help physicians to choose the appropriate surgical management especially in cases of large defects.

Functional Pathway and Process Enrichment Analysis of Genes Associated With Morphological Abnormalities of the Outer Ear.

Congenital anomalies of the outer ear are common birth defects, including a variety of congenital deformities or malformations ranging from mild structural anomalies to total absence of the ear. Despite its high incidence and detrimental impact on patients, the etiology of outer ear abnormalities remains poorly understood. The goal of this study was to summarize the related genes and improve our understanding of the genetic etiology of morphological abnormalities of the outer ear. Human Phenotype Ontology (HPO) database, Mouse Genome Informatics (MGI) database, and PubMed search engine were used to acquire the genes associated with abnormal human or mouse outer ear. Metascape was employed on the genes above to conduct functional annotation, pathway and process enrichment analysis, protein-protein interaction network analysis, and MCODE component analysis. After a comprehensive review of the databases and literature, we identified 394 human genes and 148 mouse genes that have been associated with abnormal phenotypes of the outer ear, and we identified several biological pathways for human and mouse respectively. Especially, the analysis of common genes shared by human and mouse emphasized the importance of certain genes ( PAX6 , PBX1 , HOXA1 , HOXA2 , TBX1 , TBX15 , PRRX1 , and HMX1 ) in the embryonic development of the external ear. Through our analysis of genes associated with morphological abnormalities of the outer ear, the authors have shown that embryonic development pathways take important roles in the morphogenesis of abnormal external ear and highlighted some potential genetic drivers.

Reconstruction of constricted ears by combing bilateral cartilage flaps bridging with V-Y advancement flap.

BACKGROUND: Despite a number of surgical procedures for the reconstruction of moderate to severe constricted ears described in the literature, a most cost-effective method remains to be explored. It is still a challenge to maximize the full use of the ear cartilage and surrounding skin while achieving the best results. METHODS: From 2011 to 2016, seven constricted ear patients were enrolled in this study. Five of them were moderate (type IIB Tanzer classification) deformities, and two were severe (type III Tanzer classification). All constricted ear patients were treated with bilateral cartilage flaps bridging and the V-Y advancement flap from preauricular skin, with the option of inserting a conchal cartilage graft if additional stability was required. Mean follow-up period was 4.0 ± 3.5years. RESULTS: All patients were satisfied with significant increase in the height of the constricted ears, also with the reconstruction of scapha and antihelix. The surgical scar was not obvious. No complications were observed. Long-term follow-up period revealed that the reconstructive procedure produced the long-lasting cosmetic results. CONCLUSION: Combination of bilateral cartilage flaps bridging with V-Y advancement of preauricular flap can make full use of its deformed tissue and surrounding skin. The method is effective and reliable in the reconstruction of moderate and some severe constricted ears.