Ear Deformity Research Articles

A Novel Nonsurgical Technique for Correcting Congenital Auricular Anomalies.

Congenital ear anomalies are associated with psychological morbidity. Ear deformities can usually be corrected by nonsurgical techniques such as splinting or molding in the neonatal period, initiated before 6 weeks. Without early corrections, many will require otoplasty during childhood. We introduce a novel silicone-based custom mold technique for congenital ear anomalies. The highly malleable silicone was pushed into every part of the auricle, enabling the auricle to remain in the desired shape, with new molds made weekly. Of 31 newborns (18 males, 13 females), 54 ears were treated. Average age at treatment initiation was 26.8 days. The mean treatment duration was 43.2 days, with a median of 28 days. Normal appearance and parent's satisfaction were achieved in 30 patients with 49 deformed ears and also in four newborns older than 6 weeks. Three concha type microtia in two patients achieved great improvements and parents' satisfaction. No complications were reported. Marked aesthetic improvements and normal appearance were achieved for all deformed auricles treated, and improvements in the concha type microtia will partially alleviate future surgical corrections. The results are not inferior to other techniques. The advantages are as follows: cost-effective, time-saving, simple to master, no need for hair shaving, and easy use for parents. Patients older than 6 weeks of age achieved normal auricle appearance, enabling the correction in older newborns. Custom made silicone auricle molding offers a simple nonsurgical technique for correcting congenital ear anomalies, alleviating the need for future surgical corrections.

Otoplastic Surgery for Calcified Auricular Deformity

Auricular hematoma is one of the most common problems among people who have got repetitive blunt trauma to the external ear. Prompt managements are drainage of hematoma and following prevention of re-accumulation (e.g. compression dressing). If the treatment is not successful, many complications can occur, including perichondritis, infection and necrosis. Especially long-lasting loss of blood supply to the ear cartilage and formation of neocartilage from disrupted perichondrium can result in cauliflower ear deformity. There were some studies trying to classify and to treat the cauliflower ear by the degree of deformities. And excision of deformed cartilage with reshaping of the auricle has been reported several times. In this article, we would like to introduce a successful drilling technique of otoplasty as a useful treatment option.

Our Experience With the Correction of Prominent Ear Deformity.

The ear has a unique architecture of cartilage and skin. The incidence of the prominent ear is about 5%. Surgical correction of the prominent or protruding ear can be carried out either by anterior or posterior approach. We created antihelical fold of cartilage by utilizing a posterior incision to score the anterior cartilage of the lateral scapha with a knife. Sutures were often used to uphold the produced fold. The additional procedure of conchal reduction and concho-mastoid suture was done when required. The objective of our research is to evaluate the patient’s and surgeon’s satisfaction with our technique of prominent ear correction and identify any complication if it occurs post-operatively.This is a retrospective study over a period of eight years (2011-2018) which includes all patients presented to Liaquat National Hospital with prominent ear. A total of 47 patients were included. Patients with a previous history of otoplasty were excluded. Patients were followed up for at least six months postoperatively. The outcome was assessed via Visual Analogue Score by a patient, surgeon, and a third observer (assessor). The average score by the surgeon was 7.9, by the patient it was 8.4 and by the assessor it was 8.1. The average pre-operative concho-mastoid distance was 2.2 cm which decreases to 1.4 cm post-operatively. Correction of the prominent ear by this technique is safe and easy. We did not experience any major complication, giving reproducible and good aesthetic results.

Correlations Between Mandible Condylar Structures and External Ear Deformities in Hemifacial Microsomia With Three-Dimensional Analysis.

This study aimed to explore correlations between mandible and ear deformities and quantitative volumetric relations between condylar structures and external ear in hemifacial microsomia. The authors reconstructed three-dimensional craniofacial models from 212 patients with unilateral hemifacial microsomia (the unaffected side as the controls). Patients were evaluated by Pruzansky-Kaban and Marx classification, and divided into 3 age groups (0-6, 7-12, and >12 years of age). The mandible condylar structures, including condyle and the condylar skeletal unit, were selected (except the classification of the mandibular or ear deformities (M3)). Along with the external ear (except the classification of the mandibular or ear deformities (E4)), their volumes were measured and analyzed. Spearman correlation coefficient analysis was applied. There was a positive correlation between the mandible and ear deformities (r = 0.301, P < 0.001). Either between the condyle and external ear ( P = 0.071-0.493) or between the condylar unit and external ear ( P = 0.080 - 0.488), there were no volumetric relations on the affected side, whereas on the unaffected side were (r = 0.492-0.929 for condyle, r = 0.443-0.929 for the condylar unit, P < 0.05). In most cases, the condylar structures of the classification of the mandibular or ear deformities (M2b) were significantly smaller than the classification of the mandibular or ear deformities (M2a). Results suggested deformities of mandibular condylar structures and ear did not correlate, although deformities of mandible and ear did. The condylar deformity might develop independently from microtia and be more severe within relatively more abnormal temporomandibular joints.

Efficacy of Using Perichondrioadipodermal Flap With Combined Techniques in Prominent Ear Correction.

Prominent ear is 1 of the most common congenital deformities of the ear. Incidence is reported as approximately 5%. This deformity can classically be the result of antihelix insufficiency, overprojection of concha or combination of both. Less frequently, folded or overprojectile ear lobule can aggravate the deformity. Surgical techniques can be aimed at concha, antihelix formation, lobule positioning. In our study, postoperative results for the combination of suture otoplasty and perichondrioadipodermal flap techniques in prominent ear surgery is discussed in light of the recent literature. Forty-nine patients that were operated for prominent ear deformity in our clinic between 2010 and 2015 were evaluated. Anatomic structures that cause the anomaly was analyzed by photographing concha-scaphoid angle, antithetical fold absence or presence, position of the ear lobule, conchal depth, size of the auricula, and positioning Frankfort Plane parallel to the ground. The patients were photographed preoperatively, at postoperative first week and postoperative sixth month, respectively. Comparison of age, surgical technique, surgical complications, necessity for revision surgery, additional procedures, follow up time, preoperative, and postoperative helix-mastoid bone distance were evaluated. Forty-nine patients have been evaluated. Thirty-one of these patients were female, whereas 18 were male. Age of these patients ranged between 6 and 37. Operations were performed in 47 right side ears, and 44 left side ears (97% bilateral and 7% unilateral otoplasty). Preoperative helix-mastoid bone distance ranged between 21 and 33 mm (mean 26.77), whereas postoperative helix-mastoid bone distance was measured between 12 and 22 mm (mean 16.26). Compared to the preoperative values, helix-mastoid distance difference was statistically significant (P < 0.05). Asymmetry and recurrence are the most common late complications of prominent ear surgeries. Perichondrioadipodermal flap can be safely added to the combined surgical techniques protecting the cartilage support, therefore, reducing complication rates, with satisfying results.

Otoplasty: a modified Chong-Chet technique with positive long-term results.

Background:In the last few decades, many techniques have been developed to correct prominent ear deformities. Modified Chong-Chet otoplasty represents a new and improved classical Chong-Chet procedure for prominent ear surgery. This study evaluates and compares the long-term results of standard Chong-Chet otoplasty with the modified technique.Methods:A retrospective study was conducted on patients undergoing otoplasty at the Special Hospital S-tetik Banja Luka between January 17, 2017, and February 5, 2019. The total number of patients undergoing the procedure was 129. The first group (48 patients) underwent otoplasty using the Chong-Chet technique, while the second group (81 patients) underwent a modified Chong-Chet procedure. All patients were randomly selected on the condition that the antihelix was absent.The data were processed and analyzed using the Statistical Package for the Social Sciences version 24 using nonparametric tests (χ2 test, Mann–Whitney U test and Kruskal–Wallis test).Results:Every second patient was satisfied (19 patients were partially satisfied and five patients were completely satisfied) with the results of the classical Chong-Chet technique. Seven patients were neither satisfied nor dissatisfied, while 17 patients were dissatisfied (11 patients were completely dissatisfied and 6 patients were mostly dissatisfied). As for the modified method, on average, nine out of 10 patients (73 or 90.1%) were satisfied, of which 49 patients (60.5%) were completely satisfied and 24 patients (29.6%) were mostly satisfied.The statistical significance was P < .05.Research results point to the modified Chong-Chet technique being a significant improvement to the classical method.Conclusion:Modified Chong-Chet technique increases the number of positive long-term results and significantly improves the standard method.

A multicenter study on quality of life of the \u201cgreater patient\u201d in congenital ichthyoses

BackgroundAutosomal recessive congenital ichthyoses (ARCI) are a genetically heterogeneous group of rare and chronic disorders characterized by generalized skin scaling and hyperkeratosis, erythroderma, and palmoplantar keratoderma. Additional features include ectropion, eclabium, ear deformities, foul-smell, joints contractures and walking problems, recurrent infections, as well as pruritus and pain. No curative therapy is available and disease care mainly relies on daily application of topical emollients and keratolytics to the whole-body surface. Altogether, disease signs and symptoms and treatment modalities have a major impact on quality of life of patients and their caregivers. However, very few studies have evaluated the family disease burden in ARCI.MethodsWe have performed an Italian multicenter cross-sectional study to assess the secondary disease impact on family members of pediatric and adult patients with ARCI, using a validated dermatology-specific questionnaire, the family dermatology life quality index (FDLQI). Disease severity was assessed by the dermatologist in each center.ResultsSeventy-eight out of 82 patients who were accompanied by at least one family member filled the FDLQI. Forty-eight (61.5%) patients were aged less than 18 years. The mean FDLQI score was 10.3 (median 10), and the most affected dimensions were (1) time needed for care, (2) extra-housework, and (3) household expenditure. Higher total FDLQI score significantly correlated with more severe disease score (P = 0.003). Features associated with greater family burden included recurrent infections (P = 0.004), foul-smell (P = 0.009), palmoplantar keratoderma (P = 0.041), but also presence of scales on the face (P = 0.039) and ear deformities (P = 0.016).ConclusionsOur findings highlight the major socio-economic and psychological burden imposed by ARCI on the QoL of family caregivers. In addition, they show that global evaluation of disease impact also on family members is an essential part of patient-reported outcomes. Finally, our data underline the need to develop specific measures for family support.

Non-Surgical Correction of Congenital Ear Anomalies: A Critical Assessment of Caretaker Burdens and Aesthetic Outcomes.

Congenital ear anomalies result from cartilage and skin compression in utero. They can be corrected in infancy before the cartilage hardens and loses its malleability. Caretaker burden of ear molding and its impact on esthetic outcomes has not been studied. Demographic and procedural variables were retrospectively collected for infants who underwent ear molding. Parents were surveyed regarding their experience, caretaker burden, and esthetic outcome. Outside physicians were provided with pre- and post-treatment photographs and asked to rate outcomes. A Likert scale was developed for responses and converted to a numeric score from 1 to 5 with 5 as the most desirable. Seventy-four patients comprising 121 ears were included. Mean age at treatment was 20.1±21.4 days with treatment duration of 21.1±7.7 days. Parental participation in the survey was 70.1%. Questions that queried parents' experiences revealed a "very positive" experience with minor burden related to bathing and cleaning (Mean Likert Score 4.1, Range 1-5). Favorable parent-reported outcomes were obtained regarding anticipated social distress (4.28, 1-5), satisfaction with results (4.27, 1-5), and perception of final appearance (4.18, 1-5). Physician assessments of esthetic outcomes were slightly lower, but favorable between "somewhat effective" and "very effective" (3.46, 1-5). Earlier treatment trended favorably, but did not reach significance. Ear malformations had higher parent-reported satisfaction than ear deformations (4.75±0.46 vs 4.21±1.25, p=0.025). Despite the additional obligation for new parents, infant ear molding is rated low in terms of caretaker burden. Esthetic outcomes are excellent as assessed by parents and physicians. However, caretakers reported higher esthetic outcomes than physician evaluations. 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 MUSTARDÉ TECHNIQUE FOR CORRECTION OF PROTRUDING EAR ( BAT EAR ) IN CHILDREN

Background: The auricle constitutes an important part of the face which is a focus of attention and personal interaction. A malformed auricle especially in young school age may result in some kind of psychosocial disturbance. Congenital abnormalities of the auricle have been estimated to occur in 5% of the population. Objective: to demonstrate and evaluate the results of modified mustarde technique used for correction of prominent ear deformity in pediatric. Patients and Methods: The present study included the results of operations in 30 ears concerning 16patients because there were 14 bilateral and 2 unilateral patients with prominent ear deformities, at age between 4-14 years of sexes, (11 males and 5 females). The patients were admitted to Al-azhar University hospitals in Cairo. Results: Our results were discussed in view of one technique, modified mustarde technique for all cases. The aesthetic results were evaluated,during the first 6 months postoperatively, by inspection and continuous measurements of auriculo-mastoid distance. For that purpose, photographs and measurements data taken in the pre- and post-operative periods was compared. In addition, the opinions of the patients and their care givers were taken into consideration. Conclusion: The use of modified mustarde technique not only hides the suture material but also provides a primary otoplasty technique that supports the repair with plication and scoring which gives the opportunity for the new shape to remain consistent in the postoperative period, a natural-looking antihelical fold, no sharp edges was formed and Long-lasting permanent results were aimed We believe that the modified mustarde technique was simple, safe and easy applicable method for protruding ear correction with excellent results.

Analysis of the curative effect of a domestic ear orthosis system in the treatment of congenital auricle deformity

ObjectiveTo evaluate the therapeutic effect and determinants of jingle ear orthosis in the correction of infant ear malformation and to evaluate its clinical application value. MethodsIn this retrospective study, 156 patients with 233 ears who had used the beautiful ear orthosis system in Jiangxi Province in the last 3 years were included. The patients were grouped according to age at initial correction, sex, and type of deformity, and data on duration and age of orthotic use and complications were obtained. ResultsWe studied 156 paediatric cases with 233 ear deformities, 79 of which were single-ear deformities. In total, 77 cases had an ear shape deformity, and an implicit ear was the most common deformity. For a good therapeutic effect evaluation standard above 96.57%, the mean duration of follow-up was 1 month. The initial correction age was an important factor in the correction effect while gender had no obvious influence. The difference in the mean wearing time was not statistically significant (p = 0.233, p > 0.05). There was no statistically significant difference in the ratio of correcting effects between the 6 types of deformities that were excellent or good (p = 0.086, p > 0.05). ConclusionsDomestic auricle orthosis is an effective nonsurgical treatment for ear malformation. The correction effect is related to the initial correction age. The younger the child is, the better the treatment effect is, and the shorter the treatment time is. Complications are common in older infants. Therefore, prompt non-surgical correction performed can improve the effective rate of treatment.

Assessing outcomes of ear molding therapy by health care providers and convolutional neural network

Ear molding therapy is a nonsurgical technique to correct certain congenital auricular deformities. While the advantages of nonsurgical treatments over otoplasty are well-described, few studies have assessed aesthetic outcomes. In this study, we compared assessments of outcomes of ear molding therapy for 283 ears by experienced healthcare providers and a previously developed deep learning CNN model. 2D photographs of ears were obtained as a standard of care in our onsite photography studio. Physician assistants (PAs) rated the photographs using a 5-point Likert scale ranging from 1(poor) to 5(excellent) and the CNN assessment was categorical, classifying each photo as either “normal” or “deformed”. On average, the PAs classified 75.6% of photographs as good to excellent outcomes (scores 4 and 5). Similarly, the CNN classified 75.3% of the photographs as normal. The inter-rater agreement between the PAs ranged between 72 and 81%, while there was a 69.6% agreement between the machine model and the inter-rater majority agreement between at least two PAs (i.e., when at least two PAs gave a simultaneous score < 4 or ≥ 4). This study shows that noninvasive ear molding therapy has excellent outcomes in general. In addition, it indicates that with further training and validation, machine learning techniques, like CNN, have the capability to accurately mimic provider assessment while removing the subjectivity of human evaluation making it a robust tool for ear deformity identification and outcome evaluation.

English

Prosthodontists usually stick to the dictum by MM Devan, “preservation of what remains than meticulous replacement of what has been lost.1” “Microtia” is a term used to describe congenital anomaly of the external ear. It is a combination of the words “micro” and “otia” each of the term denoting small and ear respectively. It includes a range of deformities which may consist of presence of a rudimentary ear, a grossly normal or smaller ear or complete absence of the entire external ear. These deformities usually account for 3 in every ten thousand births, with less than 10 % of all the cases showing bilaterally missing ears.2-4 Facial deformities are common for the microtia patient as the auricle develops from tissues of the branchial arches. Figure 1 describes the patient having congenitally missing unilateral ear. Maxillofacial prosthodontics deals with prosthetic rehabilitation of disfigured or missing parts of head and neck. Prosthetic replacement of the exterior part (Epithesis) can be related to as old as civilization. References to it are available in Indian, Greek, Roman, Egyptian Civilizations.5 Ambroise Pare is credited with making various contributions to the materials and techniques in facial prosthetics. Fabrication of an extra-oral prosthesis is probably more of an art than science. Throughout the recorded history, humans have attempted to restore missing parts of the body by using various artificial materials. MPF materials have evolved since centuries right from metals, ivory, porcelain, waxes, natural rubber, gelatin, and latex to modern day materials such as methacrylate or acrylic resins, polyurethane elastomers, and silicone elastomers each having their own set of advantages and disadvantages. But silicone is most commonly used because of its assorted benefits over other MFP materials. This case report describes an auricular prosthesis for the patient with congenital ear deformity using an acrylic template for colour depiction and room temperature volcanizing (RTV) silicone.6

Long-Term Effectiveness of Ear Molding in Infants Using the EarWell Infant Correction System in China.

Ear molding is a safe and effective way to treat babies born with ear deformities. In this study, the authors explored the long-term effectiveness of ear molding and determined the factors that relate to recurrence. A retrospective review of 200 consecutive infants treated with the EarWell System from March of 2018 to August of 2019 was performed. Immediate and long-term effectiveness was evaluated and compared. A total of 190 children (314 ears) were included. The mean age at presentation was 16.2 days (range, 0 to 100 days). The most common deformity was constricted ear [172 ears (54.8 percent)], and the rarest deformity was cryptotia [four ears (1.3 percent)]. At the completion of treatment, 10 constricted ears were evaluated to be unsuccessful. The immediate success rates of mild and severe constricted ears were 95.7 percent and 93.1 percent, respectively. The average long-term follow-up was 336 days (range, 180 to 660 days) after completion of treatment. Twenty-two ears (7.2 percent) reverted to their original shape. The long-term success rates of severe constricted ears and prominent ears decreased most significantly, 83.3 percent (p = 0.030) and 66.7 percent (p = 0.042), respectively. Family history led to a decrease of long-term effectiveness of prominent ears. Age at application, sex, duration of molding, and retention taping were not correlated to the long-term outcome. Long-term follow-up demonstrated that in a percentage of babies, the ear deformities did recur after an initially successful treatment. Severe constricted ears and prominent ears are most likely to relapse. Therapeutic, IV.

Characterization of Phenotypes and Treatment Modalities in Patients With Treacher-Collins Syndrome.

The purpose of this study was to investigate the phenotypes and treatment modalities (Tx-Mod) in patients with Treacher-Collins syndrome (TCS) using a TCS severity index (TSI). The sample consisted of 14 Korean TCS patients treated at the Department of Orthodontics, Seoul National University Dental Hospital during 1998 to 2019. The TSI was calculated by adding the scores from the number of deformity-involved midface structures (eye, ear, zygoma) and the degree of mandibular hypoplasia (Pruzansky-Kaban type, gonial angle, Sella-Nasion-B point angle). The deformity-involved midface structure, degree of mandibular hypoplasia, oral manifestations, dental phenotypes, and Tx-Mod types were investigated using descriptive statistics. The TSI classified the subjects into 2 mild, 6 moderate, and 6 severe cases. The severity of ear and zygoma deformities, degree of condylar hypoplasia (Pruzansky-Kaban type), clockwise-rotated morphology (gonial angle) and retrusive position (Sella-Nasion-B point angle) of the mandible, and frequency of oral/craniofacial cleft, openbite, congenitally missing tooth and impacted tooth showed a tendency of increase from mild to severe TCS cases. After growth observation (78.6%), diverse combinations of Tx-Mods were applied except for functional appliance therapy. Surgical procedures for eye, ear, and zygoma reconstruction were performed on all patients (100%), whereas fixed orthodontic treatment, mandibular distraction osteogenesis, and orthognathic surgery were performed on 50% of patients. Surgical procedure for hearing improvement was the most frequent Tx-Mod (78.6%). The main desires of TCS patients were to obtain the facial esthetics in the midface and to improve hearing function. The TSI might provide a primary data for individualized diagnosis and treatment planning.

Revisiting Primary Otoplasty: Surgical Approach to the Prominent Ear.

Prominent ears and other ear deformities are some of the most common congenital deformities of the head, affecting over 10 percent of the general population. In 2018, more than 10,000 otoplasties were performed in the United States, with over one-third performed on men. The goal of primary otoplasty is creation of a normal-appearing ear without evidence of surgical intervention. This article and video detail the authors' preferred technique for the treatment of prominent ears. This novel method allows for reduction of a hypertrophic concha and obtuse conchoscaphal angle, as well as creation of an adequate antihelical fold.

Post Auricular Fascial Flap in Otoplasty

AbstractObjective: To compare otoplasty with post-auricular fascial flap and otoplasty without the flap as regard deformities set back and hide if suture extrusion.Background: Prominent ear is considered as a frequent hereditary deformity affecting 5% of the population. It may cause psychological problems at any age. Modern prominent ear surgery attempts to return the ears to their normal position with soft margin outlines and attempts to perform a uniform correction without the interference of surgical evidence.Method: This study will include 31 patients presented with congenital prominent ear deformity in the plastic surgery department, faculty of medicine, Menoufia University in the period from February 2018 up to February 2020. All studied patients were subjected to take a full history, systemic examination, and local examination of the ear. The patients were classified into 2 groups. Group A (15 patients) underwent otoplasty with postauricular fascial flap, while group B (16 patients), otoplasty without postauricular fascial flap.Results: There was no statistically significant difference detected between patients underwent otoplasty with or without the post-auricular fascial flap as regard duration of surgery, and complications.Conclusion: The otoplasty with post-auricular fascial flap yields excellent patient and parent satisfaction with a natural harmonious look and minimal complication especially those related to sutures demonstrating its efficacy in preventing these complications, but with no difference with otoplasty without post-auricular fascial flap.

A NEW TECHNIQUE FOR MASTECTOMY INCISION TO AVOID DOG EAR FORMATION IN LARGE SIZED BREASTS

Breast cancer has now surpassed lung cancer as the leading cause of global cancer incidence in 2020, Following a standard mastectomy for breast cancer in obese or large sized breast patients, Dog ear, a characteristic bunching up of excess tissue formed during wound closure.While it is not always possible to prevent dog ear deformity, over the past five decades, various surgical techniques have been reported. That functionally and aesthetically corrects dog ear without significantly extending the length of the original wound. No optimal technique is recommended for all cases. However, existing techniques are appropriate in specific context.Aim of the work:The aim of this study is to describe smiley mastectomy as a method to avoid lateral dog ear formation in patients with large breast size, and /or high BMI in comparison to other techniques.Methods:Our study included 60 patients, with breast cancer they were candidates for modified radical mastectomy, they had large breast size, thus prone to have lateral dog ear; 30 of them will undergo MRM using smiley incision (group A), and the other 30 patients will undergo MRM using the elliptical incision (group B).They were all submitted to: personal data, history, examination and investigations

Auricular reconstruction: where are we now? A critical literature review.

Deformities of the external ear can affect psychosocial well-being and hearing. Current gold-standard reconstructive treatment is autologous costal cartilage grafting despite the vast morbidity profile. Tissue engineering using stem cells and 3D printing can create patient-specific reconstructed auricles with superior cosmetic outcomes and reduced morbidity. This review critically analyses recent and breakthrough research in the field of regenerative medicine for the pinna, considering gaps in current literature and suggesting further steps to identify whether this could be the new gold-standard. A literature review was conducted. PubMed (MEDLINE) and Cochrane databases were searched using key terms regenerative medicine, tissue engineering, 3D printing, biofabrication, auricular reconstruction, auricular cartilage, chondrocyte, outer ear and pinna. Studies in which tissue-engineered auricles were implanted into animal or human subjects were included. Exclusion criteria included articles not in English and not published within the last ten years. Titles, abstracts and full texts were screened. Reference searching was conducted and significant breakthrough studies included. 8 studies, 6 animal and 2 human, were selected for inclusion. Strengths and weaknesses of each are discussed. Common limitations include a lack of human studies, small sample sizes and short follow-up times. Regenerative medicine holds significant potential to improve auricular reconstruction. To date there are no large multi-centred human studies in which tissue-engineered auricles have been implanted. However, recent human studies suggest promising results, raising the ever-growing possibility that tissue engineering is the future of auricular reconstruction. We aim to continue developing knowledge in this field.

Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome

BackgroundDDMS is a rare disease diagnosed by clinical and radiological characteristics. But the complexity of radiological and clinical manifestations of DDMS has become a challenge diagnostically. To date, the reported cases with DDMS had highly varied clinical manifestations including seizures, contralateral hemiplegia/hemiparesis, facial asymmetry, mental retardation, etc. In addition to typical clinical findings, some new characteristics have been recently added to the spectrum of DDMS. However, few cases have been reported to be associated with neuropsychiatric symptoms according to the literature. This study aimed to investigate the neuropsychiatric manifestations associated with Dyke-Davidoff-Masson syndrome (DDMS) and related imaging findings.MethodsThis study included 7 patients diagnosed with DDMS between 2014 and 2020. The clinical characteristics, neuropsychiatric manifestations, and radiological results were retrospectively evaluated.ResultsSeven patients (five males and two females) with a mean age of 28.0 ± 9.73 (range 15.0–41.0) years were included. Five patients were admitted to the psychiatric unit due to psychological and behavioral disorders. Two patients were referred to the neurology unit mainly due to epilepsy. Six patients had epileptic seizures, 4 had hemiplegia, 3 had mental retardation, 2 patients had external ear deformities, and 2 had facial asymmetry. Neuropsychiatric symptoms were presented in 6 (85.7 %) cases. Cases 2–6 developed affective disorders. Deficits in verbal communication, impairment of social interaction, lack of insight, adulia and hypobulia appeared in cases 1–4. Schizophrenia with apathy, and epileptic schizoid psychosis were observed in cases 4 and 5 respectively. Case 6 had behavioral disorders, hyperactivity, tic disorder, mental retardation, anxiety, catatonic symptoms and suicidal tendency. Case 7 had seizures and mental retardation, and no psychiatric symptoms were presented. Radiological examinations showed unilateral cerebral atrophy, enlarged lateral ventricles, and various compensatory hypertrophy of the skull in all cases. The midline structure has shifted to the affected side in 5(71.4 %) cases. Atrophy of the basal ganglia or brain stem was observed in 4(57.1 %) cases.ConclusionsThe hallmark imaging manifestations of DDMS facilitated the diagnosis in most cases. This study illustrated that a variety of psychoneurotic disorders and ear abnormalities were correlated with DDMS.

Mcrs1 plays a role in otic and branchial arch gene expression

Branchio-oto-renal (BOR) syndrome presents with inner, middle, and outer ear deformities, hyoid cysts and fistulae, and kidney hypoplasia or absence. Half of BOR cases are caused by mutations in genes encoding the transcription factor SIX1 or its co-factor EYA1. We previously suggested that other Six1 cofactors might be BOR candidates, and subsequently showed that Microspherule 1 (Mcrs1) binds to Six1, reduces Six1-Eya1 transcriptional activation, and during preplacodal development aids to define both the neural plate and preplacodal region. Disruption of Mcrs1 endogenous levels also disrupts otic vesicle gene expression and size. However, the consequences of these changes during larval stages of craniofacial development have yet to be characterized. To alter the levels of Mcrs1 in Xenopus laevis larvae, either mcrs1 mRNA or translation blocking antisense oligonucleotides were microinjected into the neural crest (NC) and cranial placode progenitor blastomeres. Larvae then were assessed by in situ hybridization for changes in gene expression within the otic vesicle (OV) and branchial arches (BA). Increasing Mcrs1 levels did not significantly impact OV or BA gene expression, whereas knockdown of Mcrs1 downregulated key skeletogenesis/NC (dlx5, sox9, tbx1) and cranial placode (six1, irx1) genes in both the OV and BA. In contrast, emx2 expression was upregulated by Mcrs1 knockdown. These results indicate that Mcrs1 is required for the proper level of expression of several OV and BA genes, and is a repressor of emx2, a gene known to regulate proliferation, differentiation, patterning, and migration of cells within the OV. These data indicate that Mcrs1 plays an important role in the development of craniofacial structures that are affected in BOR patients.