Congenital Ear Malformations Research Articles

Survey of quality of life scale for patients with congenital ear malformation

To explore the congenital ear malformation (CEM)-specific quality of life (QOL) and examine the effects of total ear reconstruction surgery for QOL of CEM patients. A self-composed QOL scale was used for 129 patients with congenital external and middle ear malformation. All patients were requested to fill in the QOL scale before and 1 month after ear reconstruction surgery. The level of QOL varied according to the degree of ear malformation. The total QOL score of patients with unilateral and bilateral CEM was 28.5 ± 18.4 and 51.6 ± 23.6, respectively. The total QOL score of patients pre- and post-operation was 21.0 ± 14.0 and 14.2 ± 9.7 respectively. Physiological functions, psychological status and social interactions of the patients were of statistical significance after ear reconstruction surgery compared to that of at pre-operation. Congenital ear malformation-specific QOL scale can show sensitively the changes of QOL of CEM patients. And ear reconstruction surgery is beneficial for the patients.

Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a novel cause of congenital ear malformation

SUMMARYHmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS) in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo) mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. Here we show that dumbo rats and mice exhibit similar neonatal ear and eye phenotypes. In midgestation embryos, dumbo rats show a specific loss of Hmx1 expression in neural-crest-derived craniofacial mesenchyme (CM), whereas Hmx1 is expressed normally in retinal progenitors, sensory ganglia and in CM, which is derived from mesoderm. High-throughput resequencing of 1 Mb of rat chromosome 14 from dmbo/dmbo rats, encompassing the Hmx1 locus, reveals numerous divergences from the rat genomic reference sequence, but no coding changes in Hmx1. Fine genetic mapping narrows the dmbo critical region to an interval of ∼410 kb immediately downstream of the Hmx1 transcription unit. Further sequence analysis of this region reveals a 5777-bp deletion located ∼80 kb downstream in dmbo/dmbo rats that is not apparent in 137 other rat strains. The dmbo deletion region contains a highly conserved domain of ∼500 bp, which is a candidate distal enhancer and which exhibits a similar relationship to Hmx genes in all vertebrate species for which data are available. We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital ear malformation, most cases of which remain unexplained.

Congenital Malformations of the Temporal Bone

Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

C121 Hearing loss treatment in various acquired and congenital ear malformations with the use of bone anchored hearing aids (BAHA) in children

To modify the excised larynx bench apparatus to accommodate experiments with rabbit larynges.Methodological study using ex vivo rabbit larynges.Rabbit larynges (n = 5) were dissected and mounted on a custom-made phonatory apparatus. The arytenoids were adducted by rods, and humidified air was passed through the larynx to elicit vocal fold vibration. Acoustic, aerodynamic, electroglottographic (EGG), and videokymographic data were collected for each larynx. The same data were collected for five canine larynges for the purpose of comparison, and coefficients of variation were calculated for each parameter in both models.Reliable phonation was achieved in each larynx. Acoustic fundamental frequency (F0), percent jitter, percent shimmer, signal-to-noise ratio, pressure and flow at phonation onset and offset; and F0, closed quotient, speed quotient, jitter, shimmer, and contact quotient, as recorded by EGG; and mucosal wave amplitude and phase difference are reported for rabbit larynges. Coefficients of variation for each parameter are similar in magnitude between the two models.We developed a method for recording reliable acoustic, aerodynamic, videokymographic, and EGG data from rabbit larynges. When data obtained from leporine larynges were compared with data from canine larynges, the intralarynx variability of rabbit larynges was found to be similar to that of canine larynges.

Modified Surgical Technique for Combined Congenital External and Middle Ear Malformations

Hypothesis: There is a positive correlation between type and intensity of combined congenital ear malformations and results of surgical reconstruction. Background: Combined congenital malformations of external and middle ear pose a lot of surgical problems and demand adequate skill and planned, fractioned therapy. The goals of these operations are: limited number of operations with minimal complications, well cosmetic result, hearing improvement and easier use of hearing aid, removal of congenital cholesteatoma, preservation of labyrinth and facial nerve. Methods: The aim of this work is to present the experience in treating patients with combined malformations of external and middle ear. In the period between 1992 and 2001 seventeen patients with this type of congenital malformations were operated. Classical dilemma who operates first, plastic surgeon or otosurgeon is solved here by complete otosurgical treatment with reduced number of operations. Results: Totally 36 operation was performed, two reoperations were made in four patients, and also three operations in three patients for the reconstruction of deformity of auricle. In seven patients costal rib cartilage was used for auricular framework. Reoperations were done during the course of auricular reconstruction (14 operations), or because of meatal restenosis (five operations), or cartilage graft necrosis (one case). Atresia was adequately solved in 14 patients, while in three cases connective tissue meatal restenosis was found. The results of reconstruction of auricular malformation were aesthetically good in 13 patients and sufficient in four patients. Conclusion: We found positive correlation between external ear and middle ear deformity, and the results of reconstruction, as well. Two thirds of patients have hearing threshold level under 30 dB, while the threshold in other patients is 30-40 dB. Residual airbone gap amounting about 20 dB was universally present.

Audiological evaluation and self-assessed hearing problems in subjects with single-sided congenital external ear malformations and associated conductive hearing loss

Previously, unilateral hearing impairment (UHI) has been considered of little consequence. However, a recent meta-analysis of children with UHI displayed educational and behavioural problems and possible delays of speech and language development. Further, patients with UHI consequently report hearing difficulties. Our study investigated hearing function, possible inner ear protection, and self-assessed hearing problems in 57 subjects aged between 3–80 years with single-sided congenital ear malformations and conductive UHI. Pure-tone thresholds and speech recognition (quiet, noise) were measured, and all patients completed a self-assessment questionnaire. Pure-tone thresholds corresponding to sensorineural function did not significantly differ between the normal (air conduction) and affected ear (bone conduction). However, speech recognition in both quiet and in noise was normal on the non-affected side but significantly worse on the malformed side. A moderate to high degree of self-assessed hearing problems were reported. In conclusion, hearing function in the affected ear was found to be subnormal in terms of supra threshold signal processing. Furthermore, a high degree of hearing difficulty was reported. Therefore, active treatment, surgery, or hearing amplification, might be considered.

Application of bone anchored hearing aids in different acquired and congenital ear malformations

Treatment and rehabilitation of conductive or mixed hearing loss in cases of congenital and acquired ear malformation can be successful due to application of bone anchored hearing aids (BAHA) [Laryngoscope 107 (1997)]. This method of treatment allows for secure and effective improvement of hearing and facilitates speech development in early childhood [Am. J. Otol. 9 (1998) 56].

Bone anchored hearing aid application

Patients who suffer from conductive and mixed loss hearing impairment have previously had limited options for rehabilitation. Those who also suffer from chronic ear canal infections, draining ears, congenital ear malformations, feedback problems, or eczema have an even more difficult rehabilitation.

The ear and its malformations: strange beliefs and misconceptions

Objective. To explore the strange beliefs and misconceptions related to the ear and its malformations, and how these have changed from ancient times until today. Methods. Ancient documents, journal articles, and history books were studied to research ancient and current beliefs and misconceptions with regard to the ear and its malformations. Results. The ear has been the centre of various beliefs and misconceptions through human history. Discoveries in the area of Assyria and Babylonia have revealed that the inhabitants of these countries not only had documented various congenital dysplasias of the ear but also they believed that these malformations had prophetical meaning and implied hereditary disorders. These observations and prophecies may very well have their origin to the 4th millennium BC. Egyptian and Greek–Roman medicine had suggested strange connections of the ear with close or remote parts of the human body and similar beliefs can be found through the later centuries. Hebrew and Greek-Byzantine conceptions of the perfect appearance that priests or kings should have, led to exclusion of people who had congenital ear malformations and even to mutilation (cutting off the ears) as a method of punishment. Conclusion. The present study illustrates the wide variety and the long history of misconceptions related to children born with congenital malformations of the pinna and the external ear canal. These misconceptions may have led to a conscious and subconscious anxiety and pressure from parents and patients to ENT and plastic surgeons to correct the ear malformations as soon as possible in order to avoid psychological and social problems.

Management of congenital atresia ear

A total of 3 out of 5 cases of major congenital ear malformation seen in out patient department in two years in 1997 and 1998 were operated for functional reconstruction of external auditory canal, middle car and ossicular chain. 2 cases of bilateral malformation of auricle grade 2 were advised otoplastic repair prior to tympanoplasty. Out of the 3 cases operated by anterior transatretic bone approach, 2 cases had good hearing improvement in air conduction threshold of up to 30 db hearing level (averages of 0.5, 1.2 and 3 khz). One case developed external canal stenosis by six months post operatively and drop in hearing. There was no facial nerve injury in any of the cases. This paper analyses the importance of facial nerve delineation preoperatively based on its embryological development and ils relationship with temporal bone and membranous labyrinth. It also focuses on the various parameters like timing of surgery, importance of (CT) scanning, use of facial nerve monitor and surgical expertise and experience which govern the surgical intervention and its results in congenital car atresia.

Clinical and radiological evaluation in children with microtia.

The management of a child with congenital ear malformation, in particular if the external ear is severely involved, is difficult because of the complexity of the therapeutic problem, and that of parental anxiety. It is very important to plan a complete therapeutic/habilitative programme as soon as possible, even if surgical procedures are delayed. Diagnostic imaging plays an important role in the global assessment of a child with microtia, in order to diagnose possible associated external auditory canal, middle and inner ear malformations. For these reasons our diagnostic protocol for children with microtia includes otological and audiological evaluation, clinical genetics and radiological imaging, from the neonatal period. Here, data are reported on 27 children with microtia who completed the diagnostic protocol. In eight of 27 cases microtia was bilateral: in unilateral cases the right side was affected more frequently. Other congenital malformations were diagnosed in 41% of cases. A high correlation between the degree of microtia and the frequency of external and middle ear dysplasias was found, in accordance with larger studies of the literature. Inner ear malformations were found less frequently, but without apparent correlation with the degree of microtia. The fact that children with microtia may also have severe inner ear malformations is emphasized.

Congenital Malformations Of The External Auditory Canal

Abnormal development of the first and second branchial arches and the intervening branchial cleft and pharyngeal pouch can result in a variety of deformities affecting the external auditory canal and the middle ear. This article reviews several of these deformities, including external auditory canal stenosis and atresia (minor and major congenital ear malformations) and external auditory canal duplication anomalies (type I and type II branchial cleft cysts).

Radiology of Congenital Hearing Loss

Thin-section high-resolution computed tomography with "bone algorithm" remains the examination of choice for evaluation of congenital ear malformations. It furnishes the best anatomic detail for planning the surgical approach and avoiding unfortunate intraoperative events secondary to variant courses of vessels and nerves.

The facial nerve in congenital ear malformations.

The facial nerve is the nerve of the second branchial arch and is intimately related to the temporal bone. Knowledge of facial nerve anatomy is critical to the success of any otologic or neurotologic surgical procedure. While this is true of normal temporal bone anatomy, it is of even greater significance for congenital ear malformations.

The risk of cholesteatoma in congenital aural stenosis

Congenital aural stenosis, as compared to congenital aural atresia, carries a much greater risk of cholesteatoma. In a review of over 600 patients with major congenital ear malformations, 50 patients (54 ears) were found to have congenital aural stenosis. Ninety-one percent of the ears in patients 12 years and older with a stenosis of 2 mm or less presented with cholesteatoma. Based on this review, the following opinions are given: 1. A bony ear canal opening of 2 mm or less puts the patient at risk of cholesteatoma formation; 2. the cholesteatoma is slow-growing; and 3. undiagnosed cholesteatoma will cause extensive damage to the ear by early adulthood. We recommend surgery for patients with stenosis of the external ear canal measuring 2 mm or less. The appropriate time for surgery is late childhood or early adolescence, before irreversible damage has occurred.

The relations of the mastoid segment of the facial canal to surrounding structures in congenital middle ear malformations

The authors investigated the relations between the mastoid segment of the facial canal and the temporomandibular joint, the posterior wall of the cavum tympani and the external wall of the mastoid process in 19 cases with congenital ear malformations and 10 cases with normal ears. A significantly reduced distance was found between the facial canal and the temporomandibular joint as well as between the facial canal and the posterior wall of the cavum tympani in the groups with malformated ears as compared to the control group with normal ears.

Major congenital ear malformations: surgical management and results.

Fifteen patients with major congenital aural atresia underwent operations using an anterior (trans-atretic bone) approach. Facial nerve monitoring was used in all cases and there were no instances of facial nerve injury. Postoperatively, two thirds of the patients had speech reception thresholds of 30 dB or better; the air conduction threshold (averaged for 500, 1,000, and 2,000 Hz) improved at least 25 dB in 80% of the patients and at least 30 dB in 60% of the patients (follow-up, 10 to 29 months). Minor revision surgery was necessary in three patients. On the basis of this series, several conclusions were made. First, one of the most important factors in proper patient selection is the degree of middle ear development on computed tomography, both in terms of size and ossicular formation. Second, every attempt should be made to keep the ossicular chain intact (versus use of a prosthesis), as this appears to optimize hearing results. Third, embryologic considerations and surgical experience predict a mobile stapes in the majority of major atresias. Lastly, facial nerve abnormalities are to be expected, especially in patients with significant microtia, but facial nerve monitoring will help minimize the risk of facial nerve injury.

Congenital malformations of the stapes footplate.

CONGENITAL ear malformations are said to be rare, although I have not found any statistical evidence of frequency of such malformations in literature. Wolff 1 states that the paucity of data regarding malformations of middle and inner ear is exemplified by fact that ear defects are not even indexed in 1960 First International Conference on Congenital Malformations, although they are briefly mentioned. Many papers have been published about congenital ear malformations, especially about atresia of external meatus, but no one has succeeded in gathering much material. As a consequence of development of microsurgery, a rising number of ears with congenital malformations have been operated upon, and our knowledge of nature and treatment of these malformations has increased and continues to do so. The auricle and external auditory meatus develop from first branchial groove and two accompanying branchial arches (Fig

Preoperative tomography in congenital malformations of the ear.

Preoperative tomography in congenital malformations of the ear.

Congenital middle ear malformations.

My purpose today is to review modern trends of congenital ear malformation surgery. This presentation will be concerned primarily with the restoration of hearing in an ear with blocked sound conduction and secondarily with some of the cosmetic aspects of the surgery. In keeping with the advances of modern temporal bone surgery, the guiding theory is that potentially every patient with a conductive deafness can be improved surgically. Certainly, the meeting here this week has borne out this contention. In discussing the types of congenital anomalies of the external canal and middle ear, the following classifications from a previous publication by Dr. Buckingham and myself 1 seems worth referring to so that we may understand the various types of problems. Congenital defects of the ear may be catalogued into three clinical groups depending upon the severity of the anomalies. 1 Class1. The ears with the least abnormalities are listed