Ear Deformity Research Articles

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

BackgroundWiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To date, only 2 Chinese WDSTS patients have been reported. Here, we report the phenotypes and KMT2A gene variations in 14 unrelated Chinese WDSTS patients and investigate the phenotypic differences between the Chinese and French cohorts. MethodsNext generation sequencing was performed for each patient, and the variants in the KMT2A gene were validated by Sanger sequencing. The phenotypes of 16 Chinese WDSTS patients were summarized and compared to 33 French patients.ResultsGenetic sequencing identified 13 deleterious de novo KMT2A variants in 14 patients, including 10 truncating, 2 missenses and 1 splicing variants. Of the 13 variants, 11 are novel and two have been reported previously. One of the patients is mosaic in the KMT2A gene. The variation spectra and phenotypic profiles of the Chinese WDSTS patients showed no difference with patients of other ethnicities; however, differ in the frequencies of several clinical features. We demonstrated that variations in the KMT2A gene can lead to both advanced and delayed bone age. We identified 6 novel phenotypes, which include microcephaly, deep palmar crease, external ear deformity, carpal epiphyseal growth retardation, dyslipidemia, and glossoptosis. In addition, patients harbored missense variants in the CXXC zinc finger domain of KMT2A showed more severe neurophenotypes.ConclusionOur study consists of the largest cohort of Chinese WDSTS patients that continues to expand the WDSTS phenotypic and variation spectrum. Our results support the notion that the CXXC zinc finger domain of KMT2A gene is a hotspot for missense variants associated with more severe neurophenotypes.

Ear Reconstruction Using Autologus Costal Cartilage: A Steep Learning Curve.

Ear reconstruction is a challenging operation with a steep learning curve. In view of its rarity, attaining a high standard for new surgeons is extremely difficult. This study describes the author's experience of 53 ear reconstructions using costal cartilage for congenital and post-traumatic ear deformity. The author performed 53 autologous ear reconstructions for microtia and post-traumatic ear defect over a period of 5 years utilizing the two-stage technique popularized by Firmin in most of the cases. An assessment of complications, pattern of progress and aesthetic outcome of the reconstructed ears was carried out. There were 4 cases of partial skin necrosis. In early cases, deficiencies were seen in the proportions of the reconstructed ear and the quality of definition. Better shape and definition were evident as more surgical experience was gained. This occurred as a result of increased appreciation of the ear proportions and improved framework carving. The series demonstrates the early learning curve in microtia reconstruction and underlines the importance of appropriate training and case availability in achieving high-quality results in autologous ear reconstruction.

Facial Paralysis in Patients With Hemifacial Microsomia: Frequency, Distribution, and Association With Other OMENS Abnormalities.

Although facial paralysis is a fundamental feature of hemifacial microsomia, the frequency and distribution of nerve abnormalities in patients with hemifacial microsomia remain unclear. In this study, the authors classified 1125 cases with microtia (including 339 patients with hemifacial microsomia and 786 with isolated microtia) according to Orbital Distortion Mandibular Hypoplasia Ear Anomaly Nerve Involvement Soft Tissue Dependency (OMENS) scheme. Then, the authors performed an independent analysis to describe the distribution feature of nerve abnormalities and reveal the possible relationships between facial paralysis and the other 4 fundamental features in the OMENS system. Results revealed that facial paralysis is present 23.9% of patients with hemifacial microsomia. The frontal-temporal branch is the most vulnerable branch in the total 1125 cases with microtia. The occurrence of facial paralysis is positively correlated with mandibular hypoplasia and soft tissue deficiency both in the total 1125 cases and the hemifacial microsomia patients. Orbital asymmetry is related to facial paralysis only in the total microtia cases, and ear deformity is related to facial paralysis only in hemifacial microsomia patients. No significant association was found between the severity of facial paralysis and any of the other 4 OMENS anomalies. These data suggest that the occurrence of facial paralysis may be associated with other OMENS abnormalities. The presence of serious mandibular hypoplasia or soft tissue deficiency should alert the clinician to a high possibility but not a high severity of facial paralysis.

Facelift Performed Safely With Local Anesthesia and Oral Sedation: Analysis of 174 Patients.

Anesthesia for elective ambulatory procedures must provide appropriate pain control while minimizing perioperative risk. Local anesthesia in combination with oral sedation provides a safe office-based method of anesthesia for rhytidectomy. The purpose of this analysis was to identify the incidence of traditional outcome parameters in ambulatory rhytidectomy performed with local anesthesia and oral sedation. A retrospective chart review was performed on all patients who underwent office-based rhytidectomy under local anesthesia with oral sedation from February 2011 to May 2017. A total of 174 patients were included. The data collected included patient medical and surgical history, medications, body mass index, tobacco use history, operative time, technique, and concurrent procedures. All intraoperative and postoperative complications were recorded. One hundred and sixty-five patients were female (94.8%) and 9 were male (5.2%) a mean age of 57.6 years (SD ± 7.90). There were 46 complications, including 23 hematomas (13.2%), 6 seromas, 6 episodes of emesis, 5 infections, 4 scar deformities, and 2 ear deformities. Of the 23 hematomas, only 2 required operative evacuation with local anesthesia in the office procedure room. Twenty-one hematomas were small and managed with percutaneous needle aspiration, followed by surveillance. The 5 infections resolved after oral antibiotics only. There were no thromboembolic events or hospitalizations. The use of only local anesthesia in combination with oral sedation safely permits the performance of rhytidectomy with similar incidence of rhytidectomy-related complications without the risk related to general anesthesia.

Reporting and Description for Congenital Middle Ear Malformations to Facilitate Surgical Management

The aim of this work was to report and describe the different types of congenital middle ear malformations in order to guide surgical treatment approaches and improve outcomes for affected patients. The authors reviewed patients with congenital middle ear malformations who received surgical treatment between September 2010 and March 2017. Patient characteristics, middle ear deformities, and surgical procedures were documented. In this retrospective study, 35 patients were reviewed. A description of middle ear malformation was proposed that considers ear embryogenesis and focuses on stapes deformity, with the main purpose of facilitating surgical approach selection to reconstruct the ossicular chain. Patients were classified into 3 categories: type I (19 cases), mobile stapes footplate, which included type Ia with normal stapes suprastructure and type Ib with abnormal stapes suprastructure; type II (4 cases), fixed stapes footplate, which included type IIa with normal ossicular chain and type IIb with abnormal ossicular chain; and type III (12 cases), oval window bony atresia or aplasia, with or without round window atresia. Types II and III could have concomitant aberrant facial nerve. Different surgical approaches are described. The authors describe the different types of congenital middle ear malformations. This category description considers ear embryogenesis and is focused on stapes deformity. It may provide better understanding of disease development and guide modern hearing reconstructive surgery.

Rapeutic effect analysis of the auricle appliance on 2-6 months old infants with congenital auricle deformity

Objective: To study the effect of amazing ear correction system on 2-6 months old infants with congenital ear deformity. Method: Thirty infants (37 ears) with congenital auricular deformities were enrolled in the study. Deformities included constriction, cryptopia, helicalrim, prominent, conchal strut, and Stahl deformities and microtia. The patients were divided into 2 groups. Infants elder than 2 months were 20 cases(26 auricular malformed ears). And infants under 2 months old were 10 cases(11 auricular malformed ears). All the patients underwent ear molding using the amazing ears correction system. The patients of each group were followed-up for at least 3 months. Result: The results were divided into three levels(excellent, good, and poor) according to the correction of auricular shape. In Group elder than 2 months, 13 ears were excellent and the average treatment time was 46.85 days，5 ears were good, the average treatment time was 43.40 days and 8 ears were poor, the average treatment time was 13.13 days. In Group under 2 months old, 5 ears were excellent and the average treatment time was 28.80 days，6 ears were good and the average treatment time was 18.66 days. The patients of each group were followed-up for at least 3 months and no rebound occurred. Conclusion:Ear correction system has a significant effect on those more than 2 months and less than 6 months with congenital auricular deformity. The children who were more than 2 months old need to wear the auricle appliance over 6 weeks to achieve a satisfactory effect.

In utero drug exposure and hearing impairment in 2-year-old children A case-control study using the EFEMERIS database

IntroductionAs the ear development extends from the 4th to the 30th week of pregnancy, in utero exposure to ototoxic drugs might lead to hearing impairment in the fetus. The main study objective was to assess the association between in utero drug exposure and the occurrence of hearing impairment in 2-year-old children. Methods and materialsA case-control study was carried out using the EFEMERIS database, recording medications dispensed during pregnancy and the compulsory health certificates for child at 8 days, 9 and 24 months. Cases were defined as children with an abnormal hearing examination recorded on the 24-month certificate and controls as children with a normal hearing examination.Exposure was defined as at least one prescription and dispensation to the mother of drugs grouped at the 3rd level of the Anatomical Therapeutic and Chemical Classification level, compared to no exposure. Univariate logistic regressions were carried out. If the 95% confidence interval (95% CI) of the odds ratio (OR) was significant, a multivariable logistic regression was performed, adjusted on confounders. ResultsA total of 1,245 cases with abnormal hearing evaluation and 28,046 controls were selected for analysis. Case and control mothers were comparable in terms of age, education and congenital infection. Cases and controls were comparable in terms of prematurity, asphyxia and weight at birth. However, among cases (versus controls), there were more ear deformities (0.6% vs 0.0% p≤0.001), and more recurring otitis (11.3% vs 5.3% p≤0.0001).When adjusted on confounders, the following drugs remained significant versus no exposure: acetylsalicylic acid at low dosage (OR 95% CI 1.61 [1.09-2.37]), valproic acid or valpromide (OR 95% CI 5.20 [1.93-14.00]), systemic corticosteroids (OR 95% CI 0.75 [0.61-0.93]. In a sensitivity analysis which excluded children with recurrent otitis at 24 months, these three results remained significant. ConclusionsThis is the first study evaluating the risk of hearing disorders due to in utero exposure to drugs. Hearing loss was associated with valproic acid and low-dose acetylsalicylic acid exposure during pregnancy. Conversely, children with normal hearing were more likely to have been exposed in utero to corticosteroids than children with hearing loss.

Advance of the use of auricular othosis in congenital ear deformities

Congenital ear deformities are common diseases in infants and can be effectively corrected by ear molding. However, the current knowledge about the auricular othosis is still insufficiency. As the new type of ear correction system has been produced, non-surgical correction of ear deformities is increasingly popular. To promote and standardize its clinical application, here, we reviewed the advanced publications associated with neonatal ear molding, focusing on auricular deformities classification, incidence rate, self-healing rate, as well as pathological mechanism. The review also included various auricular othosis materials, treatment opportunity, cure rate and complications.

Key Genes and Pathways Associated With Inner Ear Malformation in SOX10 p.R109W Mutation Pigs.

SRY-box 10 (SOX10) mutation may lead to inner ear deformities. However, its molecular mechanisms on inner ear development are not clear. In this work, the inner ear morphology was investigated at different embryonic stages of the SOX10 mutation miniature porcine model with sensorineural hearing loss, and high-throughput RNA-seq and bioinformatics analyses were applied. Our results indicated that the SOX10 mutation in the miniature pigs led to an incomplete partition (IP) of the cochlea, a cystic apex caused by fusion from middle and apical turns, cochlear modiolar defects and a shortened cochlear duct. The model demonstrated 173 differentially expressed genes (DEGs) and 185 differentially expressed long non-coding RNAs (lncRNAs). The down-regulated DEGs most significantly enriched the inflammatory mediator regulation of the TRP channels, arachidonic acid metabolism, and the salivary secretion pathways, while the up-regulated DEGs most significantly enriched the systemic lupus erythematosus and alcoholism pathways. Based on gene cluster analysis, we selected four gene groups: WNT1, KCNQ4, STRC and PAX6.

Correction and Prevention of the Pixie Ear Deformity: A Combined Technique.

Ear and earlobe deformities after surgical rhytidectomy are common and can significantly diminish the aesthetic outcome. The main causes of ear/earlobe distortion are skin overresection, an imbalance between vertical/horizontal skin-lift vectors, and tractional distortions through superficial muscularaponeurotic system (SMAS) tension. To demonstrate a new method for earlobe suturing and ear fixation that would prevent aesthetics-related complications after facelift surgery. A total of 105 primary SMAS facelift surgeries were performed between 2015 and 2016 by the first author. A combination technique consisting of a posterior earlobe rotation flap (PERF) and a concha-mastoid suspension suture (CMSS) was executed bilaterally within each facelift procedure (n = 210). A retrospective data analysis was conducted (preoperatively and one year postoperatively) using our hospital information system and a photometric data analysis to assess auricular displacement, earlobe distortion, and hypertrophic scarring. Pseudoptosis of the earlobe was noted in two cases, and auricular displacement was observed in four cases. Bilateral mild hypertrophic scarring was seen in one patient. The postoperative photometric analysis showed a natural ptosis grade I/II in all the patients, with a statistically significantly reduced postoperative earlobe size (P < 0.05). The total rate of aesthetics-related complications was 4% in our cohort (earlobe distortion with pseudoptosis: 1%; auricular displacement: 2%; hypertrophic scarring: 1%). Our modification of the facial flap anchoring at the ear base in combination with a CMSS stabilizes the natural position of the ear and prevents distortion while allowing better control over the earlobe's aesthetic shaping. This novel method reduces the incidence of ear/earlobe deformities and hypertrophic scarring at the ear base after rhytidectomy and, therefore, promises to be a valuable advancement.

Chondritis of the ear after docetaxel–carboplatin chemotherapy

Docetaxel, derived from the yew tree, belongs to the taxane family of medications. It works by disrupting the normal function of microtubules, thereby stopping cell division. Docetaxel is used in the treatment of ovarian, breast, esophageal, gastric, prostate, lung, and head and neck cancers. Common side effects include hair loss, low blood cell counts, peripheral neuropathy, vomiting, and muscle pain. Auricular chondritis with ear deformity has not been reported previously as a side effect of docetaxel. In this paper, we present the case of a 64-year-old male patient with chondritis accompanied by ear deformity that developed due to docetaxel-carboplatin chemotherapy for non-small cell lung cancer.

A new otoplasty procedure: combination of perichondrio-adipo-dermal flap, posterior auricular muscle transpositioning and cartilage suturing to decrease the post-operative complication rates

Prominent ear deformity is a common congenital deformity of the external ear affecting 5% of the general population. Although this is a harmless deformity, several publications demonstrate the psychological distress, emotional trauma and behavioural problems that this deformity can inflict on children. As a result of these concerns, corrective prominent ear surgery is now widely performed as a prophylactic surgery. Three different prominent ear repair techniques were combined. First, a laterally based perichondrio-adipo-dermal flap was elevated. The posterior auricular muscle was dissected and transected from its insertion. After concha-mastoid suture replacement, the posterior auricular muscle transposition and flap positioning were performed. The helix–mastoid distances and concha-mastoid angles of the patients were measured pre-operatively and at the sixth month of the surgery as the late post-operative assessment. Patients were also evaluated for suture extrusion, granuloma formation, deformity recurrence and postauricular area sensitivity. Fourteen patients with bilateral prominent ear deformities were treated between January 2016 and January 2017. None of the patients suffered from skin necrosis, suture extrusion, hematoma or wound infection at the early or late post-operative period. No recurrence was noted. The combination of these three techniques not only decreases post-operative complication rates but also provides a primary otoplasty technique. All three techniques are well-documented and reliable protruding ear correction methods. It was aimed to benefit from specific advantages of each technique while decreasing the complication rates. The primary drawback of our study is the amount of patients in our sample. Complication rates of this technique remain debatable in the 14 cases. The need for further prospective comparative studies about this subject remains. Level of Evidence: Level IV, therapeutic study.

Prominent Ear Correction: A Comprehensive Review of Fascial Flaps in Otoplasty.

Over the last 100 years, more than 200 different methods have been described to correct prominent ear deformity. These techniques revolved around various combinations of postauricular incision, cartilage scoring, and strategic suture placement to reapproximate the antihelical fold and correct angular deformity. In the last two decades, fascial flap techniques have become prominent in otoplasty. This article gives a comprehensive review of the different surgical techniques employed to construct fascial flaps and their contributions to otoplasty.

The ‘WiFi’ otoplasty : Combined concentric posterior microchondrectomies and sutures for correction of prominent ears

Prominent ears are by far the most common congenital ear deformity. Many techniques have been described using one or a combination of 3 basic methods: cartilage cutting, cartilage weakening and pure cartilage shaping techniques. The ideal otoplasty technique should yield a natural correction of the deformity, with low recurrence rates and with little risk of complications. A new cartilage shaping technique using closing wedge concentric microchondrectomies through an entirely posterior approach is presented. Between 2006 and 2017, 200 bilateral otoplasties using this 'WiFi' pattern technique were performed. This technique combined with Mustarde sutures is based on the excision of concentric partial thickness cartilage wedges designed in the pattern of the WiFi symbol. There were no major complications such as anterior skin necrosis and no returns to theatre for infections or haematomas. 3 patients (1.5%) had complete recurrence of the deformity and 10 patients (5%) had to undergo a minor revision for recurrence at the upper pole. 5 patients have had exposure of the end of the permanent upper pole scapho-temporal suture more than 3 months after surgery requiring simple outpatient suture trimming/removal without any recurrence of results. Palpable or bridging sutures were present upon clinical examination in 10 patients (5%) but did not require revision surgery. Here, we describe a fast, safe and reliable technique for otoplasty with no need for extensive dissection, which is applicable to the full range of deformity.

HEALTH RELATED QUALITY OF LIFE AFTER OTOPLASTY IN CHILDREN WITH PROMINENT EARS; A REVIEW

Prominent ear deformity is the most common congenital abnormality of the external ear. It affects both sexes equally. The failure of antihelical fold structure, a deep conchal bowl or combination of the two problems may result in prominent ears.The aim of otoplasty should be reshape these anatomical problems. Otoplasty is a frequent aesthetic operation among pediatric population. The deformity has an autosomal-dominant hereditary pattern. Otoplasty is a procedure that can be performed by different disciplines as facial plastic surgery including otorhinolaryngology, plastic surgery and maxillofacial surgery. Cartilage-incision techniques and suture-placement techniques are the approaches for correction the prominent ears. Prominent ears are very important in diary social life. This situation is more important among children. Physicological distress, emotional trauma and behavioral problems can cause a complicated situation. Today, in modern medicine, it has been getting more important to obtain the benefit of any surgical procedure among children and adults.There is a little data about Health-Related Quality Of Life (HRQOL ) or health status impact after this operations. In this review we wanted to underline the importance of the Health-Related Quality Of Life among children after otoplasty, by the help of the literature.

Ear Reconstruction and 3D Printing: Is It Reality?

Autologous reconstruction of microtia, the most common congenital external ear deformity, is one of the more challenging plastic surgical procedures, causing obligatory donor site morbidity and often resulting in suboptimal aesthetic outcomes. Recent advances in the fields of tissue engineering and 3D printing promise to profoundly affect the practice of reconstructive surgery. 3D printed guides are already used by reconstructive surgeons during correction of complex anatomic defects. Similarly, the prosthetics industry has benefited from the ability to rapidly prototype customized pieces. Bioprinting, the ability to 3D print living tissue, is an emerging field that may soon allow the possibility of creating autologous cartilage in specific shapes. In this review, we explore the numerous ways 3D printing is being employed to address external ear deformity and how, when used in combination with cutting-edge tissue engineering technology, it may finally help us achieve the holy grail of ear reconstruction—an “off-the-shelf” auricular scaffold.

Effect of Obesity on Complications in Short-Scar Breast Reduction: A Retrospective Study of 236 Consecutive Patients.

Prior studies have examined the relationship between obesity and adverse outcomes after reduction mammaplasty, suggesting a correlation between increasing body mass index (BMI) and postoperative complications. However, there is little data published regarding such correlation with respect to short-scar technique. A total of 236 patients underwent short-scar mammaplasty with a superomedial pedicle from 2008 to 2014. The procedure was performed by a single surgeon at an academic medical center. Adverse outcomes included delayed healing, major wounds, nipple necrosis, fat necrosis, seroma, hematoma, infection, revision, and dog ear deformities. Univariate and multivariate logistic regression analyses were used to calculate crude and adjusted odds ratios for the association of BMI category with the development of any adverse outcome. Patients were grouped by the following BMI categories: <25 kg/m2 (n = 27), 25 to <30 kg/m2 (n = 71), 30 to <35 kg/m2 (n = 73), 35 to <40 kg/m2 (n = 45), and >40 kg/m2 (n = 20). The mean follow-up period was 260 days. The total complication rate in each group was 22.2%, 23.9%, 27.4%, 33.3%, and 45.0%, respectively. Although the proportion of patients experiencing at least 1 adverse outcome increased across the ascending BMI categories (P trend = .145), there was no statistically significant difference between the groups. This study of 236 patients who underwent short-scar reduction mammaplasty found a positive trend in the incidence of adverse outcomes as BMI increased. However, this was not statistically significant.

An unusual cause of unilateral prominent ear: Dermoid cyst

The etiology of ear protrusion is multifactorial and poorly understood. Prominent ear deformities with an autosomal inheritance pattern are found in 5% of caucasian population. However, pathological causes are very rare. The only dermoid cyst case causing prominent ear deformity was reported by Meagher and Morrison in English literature. We present a case of postauricular dermoid cyst causing unilateral prominent ear deformity.

Proposal of a Classification System for the Assessment and Treatment of Prominent Ear Deformity.

Prominent ear is the most common external ear deformity. To comprehensively treat prominent ear deformity, adequate comprehension of its pathophysiology is crucial. In this article, we analyze cases of prominent ear and suggest a simple classification system and treatment algorithm according to pathophysiology. We retrospectively reviewed a total of 205 Northeast Asian patients' clinical data who underwent an operation for prominent ear deformity. Follow-up assessments were conducted 3, 6, and 12months after surgery. Prominent ear deformities were classified by diagnostic checkpoints. Class I (simple prominent ear) includes prominent ear that developed with the absence of the antihelix without conchal hypertrophy. Class II (mixed-type prominent ear) is defined as having not only a flat antihelix, but also conchal excess. Class III (conchal-type prominent ear) has an enlarged conchal bowl with a well-developed antihelix. Among the three types of prominent ear, class I was most frequent (162 patients, 81.6%). Class II was observed in 28 patients (13.6%) and class III in 10 patients (4.8%). We used the scaphomastoid suture method for correction of antihelical effacement, the anterior approach conchal resection for correction of conchal hypertrophy, and Bauer's squid incision for lobule prominence. The complication rate was 9.2% including early hematoma, hypersensitivity, and suture extrusion. Unfavorable results occurred in 4% including partial recurrence, overcorrection, and undercorrection. To reduce unfavorable results and avoid recurrence, we propose the use of a classification and treatment algorithm in preoperative evaluation of prominent ear. 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 .

Newborn Ear Deformities: Early Recognition and Novel Nonoperative Techniques.

Congenital auricular anomalies are common sources of aesthetic concern and psychosocial distress for both children and their parents. Only one-third of these anomalies self-correct, leaving a large need for acceptable corrective methods. Otoplasty is often the standard treatment; however, newer nonsurgical methods, including splinting and molding in the neonatal period, have shown favorable results without the complications of surgical intervention and with the advantage of early intervention. These treatment options have not yet been widely adopted in Western countries due to delayed diagnosis of auricular deformities and confusion regarding treatment indications and technique.