[Management of patients with complex ear deformities]. / Prise en charge des patients présentant des déformations complexes du pavillon de l'oreille.

Complex ear reconstruction requires specialized multidisciplinary care. Most patients present with microtia, often associated with hearing disorders. The management of these disorders is a priority, and reconstruction of the external ear remains optional. Nowadays, auricular reconstruction is based on the subcutaneous implantation of either autologous cartilage or an allogeneic implant. Autologous reconstruction requires highly specialized surgical expertise and involves harvesting rib cartilage but carries a lower risk of exposure compared to allogeneic implants. Both techniques yield good results with a high success rate and have a positive impact on the social functioning and daily life of patients.

La reconstruction complexe du pavillon auriculaire nécessite une prise en charge multidisciplinaire spécialisée. La majorité des patients nécessitant ce geste présentent une microtie, souvent associée à des troubles de l'audition. La prise en charge de ceux-ci est prioritaire et la reconstruction du pavillon reste facultative. Aujourd'hui, la reconstruction du pavillon se base sur l'implantation sous-cutanée d'une maquette de cartilage autologue ou d'un implant allogène. La reconstruction autologue demande une expertise chirurgicale hautement spécialisée et nécessite un prélèvement de cartilage costal mais présente un risque d'exposition inférieur par rapport à l'implant allogène. Les deux techniques permettent d'atteindre de bons résultats avec un taux de réussite élevé et un effet positif sur le fonctionnement social et le quotidien des patients.

Retrospective study on unilateral polyotia combined with microtia utilizing the technique of preserving residual ear tissue.

BACKGROUND: The presence of polyotia in individuals with microtia is a rare deformity. Due to the intricate structure of the auricle, uncertain etiology, and challenging corrective techniques, it has always been a focal point in the field of plastic surgery. The present study presents a technique for correcting the combination of polyotia and microtia by utilizing residual ear tissue as graft material. METHODS: The retrospective study included 23 patients with polyotia and microtia from 2018 to 2022. The residual ear tissue was used to rectify auricular deformities in all patients. The patients were instructed to evaluate the satisfaction of the auricle shape using a visual analog scale (VAS) both before and 6 months after the surgical procedure. The esthetic outcomes of auricle subunits were simultaneously assessed by a senior physician pre- and postoperatively. RESULTS: The mean duration of follow-up in this study was 8.73 months. The preoperative VAS satisfaction score was recorded as 2.26 ± 0.86, while the post-operative VAS score significantly increased to 7.86 ± 0.86. The preoperative auricle esthetic outcomes score was recorded as 9.95 ± 1.74, while the post-operative score significantly increased to 24.04 ± 2.16. The follow-up period did not present any cases of flap necrosis, hematoma, infection, or wound dehiscence. CONCLUSION: The study demonstrates that comprehensive utilization of residual auricular tissue can lead to optimal outcomes in correcting polyotia with concha-type microtia. The utilization of residual ear tissue can be maximized to streamline the operation, minimize bodily harm, and enhance patient satisfaction.

Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.

De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by SOX11 deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS-like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers/toes malformations. Using trio-based whole-exome sequencing, a de novo missense variant in SOX11 (NM_003108.4: c.347A>G, p.Y116C) was identified and classified as pathogenic variant as per American College of Medical Genetics guidelines. Moreover, a systematic search of the literature yielded 12 publications that provided data of 55 SOX11 intragenic variants affecting various protein-coding regions of SOX11 protein. By quantitatively analyzing phenotypic spectrum information related to these 56 SOX11 variants (including our case), we found variants affecting different regions of SOX11 protein (high-mobility group [HMG] domain and non-HMG regions) appear to influence the phenotypic spectrum of organ malformations in CSS-9; variants altering the HMG domain were more likely to cause the widest range of organ anomalies. In summary, this is the first report of CSS with external ear malformation caused by pathogenic variant in SOX11, indicating that the SOX11 gene may be not only essential for the development of the inner ear but also critical for the morphogenesis of the external ear. In addition, thorough clinical examination is recommended for patients who carry pathogenic SOX11 variants that affect the HMG domain, as these variants may cause the widest range of organ anomalies underlying this condition.

The non-operative correction of ear anomalies in infants using the EarWell infant corrective system in the Netherlands.

BACKGROUND: Congenital ear anomalies are regular but often overlooked occurrences. The golden standard of treatment has been to surgically correct these anomalies at a minimum age of 5 to 7 years. As of the last century, ear molding has developed to be a safe, reliable, and effective treatment method. Different treatment methods are still under investigation. This study aims to investigate the use of the EarWell Infant Corrective System in the Dutch population. METHODS: Children aged 0-12 weeks were included in the Zuyderland Medical Center to be treated with the EarWell Infant Corrective System in case of ear deformations. Every 2 weeks, the system was replaced and correction was evaluated by both physician and parents. RESULTS: Seventy-three participants were included, of whom 123 ears in total were treated. Age at initiation was 35.5 days on average; treatment lasted an average of 59 days. Parents and physicians both reported an amelioration of all ear anomalies after treatment, scoring the correction grade an 8.8. Overall satisfaction with the treatment method was 9 or higher for both groups. CONCLUSIONS: The EarWell Infant Corrective System is a safe, reliable, and effective treatment method for the correction of ear anomalies in infants.

New Method Using Local Affected Cartilage and Flap for the Cleft in Question Mark Ear.

BACKGROUND: As a rare auricular deformity, despite numerous surgical procedures for correcting moderate-to-severe question mark ears described in past studies, there remains a need to explore a more cost-effective approach. The optimal utilization of ear cartilage and surrounding skin while achieving superior outcomes continues to pose a significant challenge. METHODS: From 2018 to 2023, twenty-four patients with unilateral question mark ear were enrolled in this study. Seven of them were severe type deformities (absence of lower part of auricle), and seventeen were moderate (only cleft between helix and lobule). All patients were treated with new method using local cartilage and flap without damage in unaffected area. RESULTS: All patients were satisfied with significant improvement of question mark ear and the overall symmetrical appearance. The surgical scar was not obvious. No complications were observed. The follow-up period revealed that the corrective procedure kept producing the symmetrical and cosmetic results. CONCLUSION: Our new method enables optimal utilization of deformed tissue and surrounding skin, rendering this method effective and reliable for correcting moderate-to-severe question mark ears. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Modified Valente Technique for Cauliflower Ear: Outcomes in Children at Two-Year Follow-Up : New Surgical Technique for Cauliflower Ear.

BACKGROUND: Cauliflower ear deformity, a common sequela of auricular trauma, presents an esthetic and reconstructive challenge. Existing surgical techniques have limitations, including complexity, donor site morbidity, and variable long-term outcomes. MATERIALS AND METHODS: In this case series, we present a novel and minimally invasive surgical approach for the correction of cauliflower ear deformity that adapts the Valente otoplasty technique; it combines cartilage debulking with helical rim release and Mustardé mattress stitches to restore ear contour and reduce the risk of recurrence. The procedural steps include bielliptic post-auricular skin and soft tissue incision, release of the cartilaginous spring, removal of excess fibrocartilaginous tissue, cartilage reshaping with suture to restore contour, and tissue redistribution to promote adherence of skin to the cartilage framework. RESULTS: Outcomes were evaluated in 7 patients (9 ears) with cauliflower ear deformity, assessing surgical duration, complications, patient satisfaction, and esthetic outcomes at two years after surgery. The mean surgical duration per patient was 52 ± 17 minutes, including 2 bilateral procedures. Follow-up at 24 months showed favorable esthetic outcome in all patients with sustained improvements in auricular contour and symmetry with neither loss of the shape nor recurrence of deformity. Patients reported high satisfaction and improved quality of life, with mean Glasgow Children Benefit Questionnaire scores of 99.3 ± 6.3. CONCLUSIONS: This technique thus demonstrated lasting correction of cauliflower ear with favorable cosmetic outcomes, low risk of complications, and high patient satisfaction. Further investigations and longer-term follow-up are warranted to validate the technique's durability and expand its application to older and more diverse patient populations. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these evidence-based medicine ratings, please refer to the Table of contents or the online Instructions to Authors www.springer.com/00266 .

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.

Prograde transposition for anteriorly low-set earlobe in lobule-type microtia reconstruction.

BACKGROUND: Lobule transposition, a common procedure in auricle reconstruction, has been successfully performed over the past few decades. However, the transposition methods for unilateral microtia with evident asymmetry of bilateral earlobe positions still remain a challenge. The objective of this study was to investigate the application of prograde transposition for anteriorly low-set earlobes. METHOD: A total of 25 patients with lobule-type microtia with anteriorly low-set residual earlobe underwent prograde transposition during auricle reconstruction between 2020 and 2022. The post-operative earlobe aesthetic assessment and patient satisfaction were evaluated, and the data on any complications that occurred when followed-up were collected. This study provides a comprehensive analysis and summary of the techniques used in earlobe transposition for auricular reconstruction. RESULTS: The patients with evident asymmetry between the residual and healthy earlobes were usually concomitant with hemifacial microsomia and the residual ear was located in the anterior and lower region. No instances of flap necrosis, hematoma, or wound dehiscence were observed following auricular reconstruction. The mean aesthetic score of the auricle was 3.52, with 23 patients attaining good or excellent aesthetic outcomes. The mean Visual Analog Scale satisfaction score was 3.68, with 24 patients reporting relative satisfaction or satisfaction. CONCLUSION: The prograde transposition of anteriorly low-set earlobe in lobule-type microtia reconstruction can effectively ensure adequate blood supply, enhance aesthetic appearance, and significantly improve patient satisfaction.

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.

Incidence of audiologic or otolaryngologic evaluation in patients with external ear anomalies.

PURPOSE: The relationship between specific external ear anomalies (EEA) and hearing loss has been previously described. However, there is no literature regarding the appropriate evaluation of patients with EEA by audiology or otolaryngology. The objective of this study was to determine the incidence of audiologic or otolaryngologic evaluation of patients with EEA. MATERIALS AND METHODS: A retrospective review of charts was conducted following approval from the institutional review board at Boston Medical Center. Charts of patients younger than 18 years old with EEA, identified using International Classification of Diseases (ICD)-9 codes 380-380.99, 744, and 744.4 and ICD-10 codes H61.90-92, Q16.0-16.9, Q17.0-17.9, Q18.0-18.2, from January 2012 to January 2019 were reviewed. Primary variables included incidence of audiologic and otolaryngologic evaluation, newborn hearing screen and audiometry results, and completion of surgical intervention. Binary logistic regressions were conducted for each group for diagnostic, procedural, and demographic characteristics. RESULTS: A total of 723 patients were diagnosed with EEA from January 2012 to January 2019. Of these patients, 327 (45.2 %) were evaluated by audiology and 327 (45.2 %) were evaluated by otolaryngology. Of the 364 patients who obtained audiograms, 63 (17.3 %) demonstrated hearing loss. Surgical procedures were performed on 119 (16.5 %) patients, with the most common procedure being excision of the EEA (n = 79, 66.4 %). A total of 468 patients had a documented newborn hearing screen. Failure of newborn hearing screen and presence of microtia were associated with increased otolaryngologic and audiologic evaluation. CONCLUSIONS: A majority of patients with EEAs do not obtain audiologic or otolaryngologic evaluation.

Long-Term Effectiveness of Ear Molding and Factors Affecting Outcomes.

BACKGROUND: The EarWell System offers a correction opportunity for infants born with ear anomalies. However, the long-term effectiveness of ear molding remains unclear. This study aimed to explore the long-term effectiveness of this novel technique and to determine the risk factors for recurrence. METHODS: This retrospective, population-based cohort study was performed from 2017 through 2021. Infants who completed ear molding therapy and were followed up for longer than 6 months were enrolled. The main outcomes were immediate and long-term efficacy, which were graded by two blinded plastic surgeons. RESULTS: A total of 226 infants (334 ears) were recruited. The most common anomalies were helical deformities [113 ears (33.8%)], and the rarest were cryptotia [five ears (1.5%)] and conchal crus [five ears (1.5%)]. The age at initiation of treatment was a factor affecting both immediate ( P = 0.004) and long-term effectiveness ( P = 0.009). The type of anomaly also influenced long-term molding outcomes. For cup ears, the success rate of long-term outcomes (76.0%) was significantly lower than that of immediate outcomes (98.7%) ( P < 0.001). Prominent ear, cup ear, and microtia were found to be the most likely to relapse during long-term follow-up. The results of logistic regression also demonstrated age, duration time, and the type of anomaly to be risk factors of ear molding effects. CONCLUSIONS: The EarWell System was shown to be a secure and effective method for treatment of congenital ear anomalies. Some infants' ear anomalies recurred after successful immediate results. The age at initiation of treatment and the type of anomaly were predictors of long-term outcomes. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.

New Strategies for Remnant Ear Treatment in Microtia Reconstruction Based on Morphometric Studies.

OBJECTIVE: Given the lack of specific evaluation indices, it is difficult to determine whether to transpose or abandon remnant ears in lobule-type microtia reconstruction. The authors illuminate referable parameters beneficial for proper treatment of remnant ear in an efficient manner. METHODS: A series of 359 lobule-type microtia patients underwent autogenous costal cartilage auricular reconstruction between 2016 and 2021. Fourteen measuring points and defined distances as well as six ratios of specific distances based on position, plumpness, similarity and the width-to-length ratio of the remnant ear have been described, and relevant tactics for appropriate treatments are introduced. RESULTS: Definite morphometric results contribute to attaining satisfactory contours of reconstructed auricles with harmonious earlobes, which exhibit highly similar dimensions and appearances compared to the contralateral normal ears. CONCLUSION: With the help of the proposed locating points and measuring approaches, the procedure of remnant ear treatment is systematically clarified. This technique ensures operation safety and contributes to the aesthetic contour of the auricle. LEVEL OF EVIDENCE: IV Laryngoscope, 134:2741-2747, 2024.

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.

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.

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.

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.

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.