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1.
Sci Rep ; 14(1): 8784, 2024 04 16.
Artículo en Inglés | MEDLINE | ID: mdl-38627500

RESUMEN

Eustachian tube balloon dilatation (ETBD) has shown promising results in the treatment of ET dysfunction (ETD); however, recurrent symptoms after ETBD frequently occur in patients with refractory ETD. The excessive pressure of balloon catheter during ETBD may induce the tissue hyperplasia and fibrotic changes around the injured mucosa. Sirolimus (SRL), an antiproliferative agent, inhibits tissue proliferation. An SRL-coated balloon catheter was fabricated using an ultrasonic spray coating technique with a coating solution composed of SRL, purified shellac, and vitamin E. This study aimed to investigate effectiveness of ETBD with a SRL-coated balloon catheter to prevent tissue proliferation in the rat ET after ETBD. In 21 Sprague-Dawley rats, the left ET was randomly divided into the control (drug-free ETBD; n = 9) and the SRL (n = 9) groups. All rats were sacrificed for histological examination immediately after and at 1 and 4 weeks after ETBD. Three rats were used to represent the normal ET. The SRL-coated ETBD significantly suppressed tissue proliferation caused by mechanical injuries compared with the control group. ETBD with SRL-coated balloon catheter was effective and safe to maintain ET luminal patency without tissue proliferation at the site of mechanical injuries for 4 weeks in a rat ET model.


Asunto(s)
Enfermedades del Oído , Trompa Auditiva , Humanos , Ratas , Animales , Dilatación/métodos , Ratas Sprague-Dawley , Cateterismo/métodos , Enfermedades del Oído/terapia , Enfermedades del Oído/diagnóstico , Resultado del Tratamiento
3.
Otol Neurotol ; 45(4): 447-453, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38437801

RESUMEN

OBJECTIVE: To make recommendations for evaluation, approach to counseling and treatment for patients who present with ear fullness without abnormalities on otomicroscopic examination, standard audiometric studies, or imaging results. METHODS: Retrospective chart review of adult patients in a tertiary referral center presenting with ear fullness and/or otalgia without external, middle, and/or inner ear pathologies. Data collected include demographics (age and gender), laterality and duration of symptoms, co-morbid conditions and final diagnoses of temporomandibular joint (TMJ) dysfunction, intermittent Eustachian tube dysfunction (iETD), migraine disorder, and anxiety. RESULTS: In the span of 8 years of a single neurotologist's practice, 964 patients presented with ear fullness. After excluding all instances where external, middle, and inner ear disorders were identified and where audiometric and radiologic findings were abnormal, 263 patients had ear fullness and no objective causes. Women were more likely than men to complain of ear fullness and/or otalgia and were also more likely to present with no objective abnormalities ( p < 0.05). Patients who reported isolated ear fullness were more likely to be diagnosed with iETD, whereas patients who reported pain were more likely to be diagnosed with TMJ dysfunction (TMJD). Fourteen patients (5.3%) had completely unexplained sensation of ear fullness. CONCLUSIONS: There were 94.7% of the patients presenting with unexplained ear fullness were diagnosed as having a possible contribution of TMJ dysfunction, IETD, migraine disorder, anxiety, or a combination of these conditions to their symptomatology. Directing treatments toward these diagnoses may alleviate symptoms of ear fullness or, if unsuccessful, provide an avenue for counseling in the framework of functional neurologic disorders.


Asunto(s)
Enfermedades del Oído , Oído Interno , Trastornos Migrañosos , Adulto , Masculino , Humanos , Femenino , Dolor de Oído/etiología , Estudios Retrospectivos , Enfermedades del Oído/diagnóstico , Trastornos Migrañosos/complicaciones
4.
Ann Otol Rhinol Laryngol ; 133(4): 369-374, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38197378

RESUMEN

OBJECTIVE: Eustachian Tube Balloon Dilation (ETBD) represents an innovative therapeutic approach for chronic Eustachian tube dysfunction (CETD), a common disease in children. Some evidence of a benefit of ETBD in the adults exist in contrast to sparse reports in children. The objective was to analyze short- and long-term outcome of ETBD in children with CETD. METHODS: A retrospective chart-review was performed in a cohort of 19 children (mean age 13 years, 7-17) who underwent ETBD. The following parameters were analyzed: tubomanometry (R-value), tympanogram, hearing (CPT-AMA, Air-bone gap [ABG]), Eustachian Tube Score (ETS and ETS-7), and Eustachian Tube Disease questionnaire (ETDQ). RESULTS: Twenty-four ears were dilated (in 5 patients subsequently after successful first intervention) and grouped as A (17) without and B (7) with additional T-tube insertion. Most children suffered from either chronic otitis media with effusion or chronic perforation (12, 63%), the remainder comprising recurrent otitis media, adhesive otitis media and CETD with barotrauma. Mean duration of symptoms were 7/8.2 years and mean follow-up 13.7/11.1 months. Eighty percent of patients reported a subjective benefit. Accordingly, the R-value, ETS, and ETS-7 were significantly (P < .05) improved. Tympanometry, CPT-AMA and ABG showed a positive trend, but the result was not significant. Tympanic retraction remained largely the same; a spontaneous closure of a chronic tympanic perforation was seen in 1 of 3 cases. CONCLUSIONS: The high subjective benefit and some significant objective improvement warrants further analysis of ETBD as part of the therapeutic management in pediatric CETD.


Asunto(s)
Enfermedades del Oído , Trompa Auditiva , Otitis Media , Adulto , Humanos , Niño , Adolescente , Trompa Auditiva/cirugía , Estudios Retrospectivos , Dilatación , Otitis Media/terapia , Pruebas de Impedancia Acústica , Enfermedades del Oído/diagnóstico , Resultado del Tratamiento
5.
Int J Pediatr Otorhinolaryngol ; 177: 111871, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38266378

RESUMEN

OBJECTIVE: Telemedicine, particularly real time video-otoscopy in rural and remote Australia holds great potential in assessing and managing otology conditions. There is good evidence of store and forward images for assessment, however limited evidence exists for the use of real-time video-otoscopy. The objective of this study was to assess the validity of using real time video-otoscopy, compared to standard store and forward still image otoscopy, in a paediatric population. METHOD: Fifty-two paediatric tympanic membranes in 27 patients were examined and photographed by a telehealth facilitator with prior otoscope training. This occurred at two rural Western Australian health centre sites. These images were stored and forwarded to a tertiary paediatric hospital for otolaryngology department assessment on the day of real-time video-otoscopy consultation. During this consultation the same twenty-seven patients underwent real-time video-otoscopy assessment, which was recorded. Across six domains including, image quality, focus, light, cerumen amount, field of view and tympanic membrane landmarks, real-time video-otoscopy was compared against still image capture. The recording of each real-time video-otoscopy and still image tympanic membrane was assessed by two otology specialists for the ability to diagnose each as either normal or abnormal. An inter-rater reliability agreement was then calculated. RESULTS: There was greater image adequacy across five of the six domains for real time video-otoscopy compared to standard store and forward otoscopy images. Substantial agreement in diagnosing each tympanic membrane as either normal or abnormal between each rater was evident. CONCLUSION: This study supports the use of real time video-otoscopy during telemedicine consultation. With greater image quality, focus, light, field of view and identification of tympanic membrane landmarks video-otoscopy compared to still images has broad clinical applications. This includes primary assessment of the tympanic membrane and post operative follow-up clinical settings. Video-otoscopy offers a promising new way to over-come barriers in delivering ear health care in rural populations.


Asunto(s)
Enfermedades del Oído , Telemedicina , Niño , Humanos , Otoscopía/métodos , Reproducibilidad de los Resultados , Australia , Membrana Timpánica/diagnóstico por imagen , Telemedicina/métodos , Enfermedades del Oído/diagnóstico
6.
J Laryngol Otol ; 138(3): 246-252, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38084610

RESUMEN

OBJECTIVE: To evaluate the feasibility and safety of employing a Eustachian tube video endoscope with a supporting balloon as a viable treatment and examination option for patients with Eustachian tube dysfunction. METHODS: A study involving nine fresh human cadaver heads was conducted to investigate the potential of balloon dilatation Eustachian tuboplasty using a Eustachian tube video endoscope and a supporting balloon catheter. The Eustachian tube cavity was examined with the Eustachian tube video endoscope during the procedure, which involved the dilatation of the cartilaginous portion of the Eustachian tube with the supporting balloon catheter. RESULTS: The utilisation of the Eustachian tube video endoscope in conjunction with the supporting balloon catheter demonstrated technical ease during the procedure, with no observed damage to essential structures, particularly the Eustachian tube cavity. CONCLUSION: This newly introduced method of dilatation and examination of the Eustachian tube cavity using a Eustachian tube video endoscope and the supporting balloon is a feasible, safe procedure.


Asunto(s)
Enfermedades del Oído , Trompa Auditiva , Humanos , Trompa Auditiva/cirugía , Dilatación/métodos , Timpanoplastia , Enfermedades del Oído/diagnóstico , Endoscopios , Resultado del Tratamiento
8.
Int Forum Allergy Rhinol ; 14(4): 850-852, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37646427

RESUMEN

KEY POINTS: CRS patients treated with medical management have improvement in ETD symptoms as reflected by lower ETDQ-7 scores However, appropriate CRS medical management may be limited in ability to significantly improve, or resolve, ETD.


Asunto(s)
Enfermedades del Oído , Trompa Auditiva , Rinosinusitis , Sinusitis , Humanos , Estudios Prospectivos , Sinusitis/tratamiento farmacológico , Enfermedades del Oído/tratamiento farmacológico , Enfermedades del Oído/diagnóstico , Enfermedad Crónica
9.
HNO ; 72(1): 57-68, 2024 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-38047932

RESUMEN

Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established classification systems is an essential requirement when dealing with affected patients. Early detection of deficiencies and introduction of appropriate diagnostic measures is vital to initiate adequate therapies and prevent long-term disabilities. Treatment for malformations of the pinna-if requested-is mostly surgical, infrequently an epithesis is applied. As in other surgical fields, tissue engineering will likely play a crucial role in the future. Treatment of aural stenosis and atresia aims at improvement of hearing levels and prevention of secondary complications like cholesteatoma and chronic otorrhea. Auditory rehabilitation comprises a spectrum from conventional hearing aids to invasive hearing implants, the latter being favored in recent years.


Asunto(s)
Anomalías Congénitas , Microtia Congénita , Enfermedades del Oído , Humanos , Anomalías Congénitas/terapia , Anomalías Congénitas/cirugía , Microtia Congénita/diagnóstico , Microtia Congénita/terapia , Microtia Congénita/complicaciones , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/terapia , Oído Externo , Audición , Pruebas Auditivas
10.
Otolaryngol Head Neck Surg ; 170(3): 944-951, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38037398

RESUMEN

OBJECTIVES: To investigate how eustachian tube dysfunction symptoms change following surgical treatment of nonsinusitis-related nasal obstruction. STUDY DESIGN: Retrospective chart review. SETTING: Single academic center. METHODS: We assessed patients who underwent septoplasty, turbinate reduction, or both for nasal obstruction. Chronic sinusitis patients were excluded. Eustachian tube dysfunction (ETD) symptoms were studied using the Eustachian Tube Dysfunction Questionnaire (ETDQ-7), collected preoperatively and postoperatively (1 week, 1 month, 3 months, 6 months postop). Patients with preoperative ETDQ-7 > 14.5 were considered to have clinically significant symptoms. Sinonasal outcomes test scores were also assessed. Pre- and postoperative ETDQ-7 scores were compared using t test. Multivariate linear regression analysis identified factors associated with ETDQ-7 change. RESULTS: We analyzed 259 patients. Preoperatively, 37.5% of patients with nasal obstruction had clinically significant ETD symptoms. These patients exhibited significant improvement in ETDQ-7 at all postoperative timepoints from 23.3 ± 7.6 at baseline to 19.1 ± 9.1 at 1 week, 16.5 ± 8.0 at 1 month, 16.2 ± 7.8 at 3 months, and 16.7 ± 10.4 at 6 months (all P < .01). In patients without baseline ETD symptoms, (baseline ETDQ-7: 9.1 ± 2.3) ETDQ-7 scores did not change significantly at postoperative timepoints, except for an acute worsening at 1 week postoperatively (10.7 ± 5.1, P < .001). Regression analysis showed that higher preoperative ETDQ-7 score (ß = -0.84, 95% confidence interval [CI]: -1.10 to -0.59) and postoperative antihistamine spray usage (ß = -8.70, 95% CI: -14.20 to -3.20) were associated with ETDQ-7 improvement, while comorbid GERD (ß = 7.50, 95% CI: 3.42-11.58) and asthma (ß = 5.62, 95% CI: 0.80-10.45) were negatively associated with improvement. CONCLUSION: Surgical correction of nasal obstruction may improve ETD symptoms.


Asunto(s)
Enfermedades del Oído , Trompa Auditiva , Obstrucción Nasal , Sinusitis , Humanos , Obstrucción Nasal/etiología , Obstrucción Nasal/cirugía , Estudios Retrospectivos , Trompa Auditiva/cirugía , Encuestas y Cuestionarios , Sinusitis/complicaciones , Sinusitis/cirugía , Enfermedades del Oído/diagnóstico
11.
Ann Biomed Eng ; 52(4): 865-876, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38097895

RESUMEN

Examining otoscopic images for ear diseases is necessary when the clinical diagnosis of ear diseases extracted from the knowledge of otolaryngologists is limited. Improved diagnosis approaches based on otoscopic image processing are urgently needed. Recently, convolutional neural networks (CNNs) have been carried out for medical diagnosis to obtain higher accuracy than standard machine learning algorithms and specialists' expertise. Therefore, the proposed approach involves using the Bayesian hyperparameter optimization with the CNN architecture for automatic diagnosis of ear imagery database including four classes: normal, myringosclerosis, earwax plug, and chronic otitis media (COM). The suggested approach was trained using 616 otoscopic images, and the performance of this approach was assessed using 264 testing images. In this paper, the performance of ear disease classification was compared in terms of accuracy, sensitivity, specificity, and positive predictive value (PPV). The results produced a classification accuracy of 98.10%, a sensitivity of 98.11%, a specificity of 99.36%, and a PPV of 98.10%. Finally, the suggested approach demonstrates how to locate optimal CNN hyperparameters for accurate diagnosis of ear diseases while taking time into account. As a result, the usefulness and dependability of the suggested approach will lead to the establishment of an automated tool for better categorization and prediction of different ear diseases.


Asunto(s)
Aprendizaje Profundo , Enfermedades del Oído , Humanos , Teorema de Bayes , Redes Neurales de la Computación , Algoritmos , Enfermedades del Oído/diagnóstico
13.
BMC Oral Health ; 23(1): 913, 2023 11 23.
Artículo en Inglés | MEDLINE | ID: mdl-37996839

RESUMEN

Symptoms of temporomandibular disorders (TMD) could be present as otologic symptoms like earache and dizziness in some patients. In most cases, these symptoms are not recognized because otolaryngologists fail to diagnose TMD as a source of the problem. This investigation was conducted to evaluate the effect of TMD treatments on the otologic symptoms which after taking history and clinical examinations seemed to be related to TMD. In the present study, the patients who were complaining of otalgia, ear fullness, tinnitus, hearing loss, and dizziness were evaluated by an ear fellow. Forty patients who had no known otologic or other primary causes to explain their symptoms, were referred to the orofacial pain clinic with the possible diagnosis of TMD. If the diagnosis was confirmed by an orofacial pain specialist, a combination of TMD treatments was administered to each case and the patients were followed up. The results showed that following implementation of treatment protocols for TMD, more than 50% of the patients reported complete or partial recovery in the second follow-up (p < 0.05). The most common otologic symptom of the referred cases was earache, and the most common associated complaint was neck pain. All the patients had one or more parafunctional habits. This study showed that TMD treatments were significantly efficient in improving otologic symptoms partially or completely and the authors concluded that for the patients with otolaryngologic unexplained symptoms, an overhaul examination is needed to assess TMD as a possible cause of the patient complaint. It is recommended that in cases with unexplained otologic symptoms, otolaryngologists care more about the neck trigger points (TP) and ask about the patient's parafunctional habits. Otolaryngologists and dentists need to be aware of the risk of developing otologic symptoms caused by these habits or cervical TPs.


Asunto(s)
Enfermedades del Oído , Trastornos de la Articulación Temporomandibular , Acúfeno , Humanos , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/etiología , Enfermedades del Oído/terapia , Dolor de Oído/etiología , Dolor de Oído/terapia , Mareo/complicaciones , Acúfeno/complicaciones , Vértigo/complicaciones , Trastornos de la Articulación Temporomandibular/terapia , Trastornos de la Articulación Temporomandibular/complicaciones , Dolor Facial/etiología , Dolor Facial/terapia
14.
HNO ; 71(12): 821-832, 2023 Dec.
Artículo en Alemán | MEDLINE | ID: mdl-37921885

RESUMEN

Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established classification systems is an essential requirement when dealing with affected patients. Early detection of deficiencies and introduction of appropriate diagnostic measures is vital to initiate adequate therapies and prevent long-term disabilities. Treatment for malformations of the pinna-if requested-is mostly surgical, infrequently an epithesis is applied. As in other surgical fields, tissue engineering will likely play a crucial role in the future. Treatment of aural stenosis and atresia aims at improvement of hearing levels and prevention of secondary complications like cholesteatoma and chronic otorrhea. Auditory rehabilitation comprises a spectrum from conventional hearing aids to invasive hearing implants, the latter being favored in recent years.


Asunto(s)
Anomalías Congénitas , Microtia Congénita , Enfermedades del Oído , Humanos , Microtia Congénita/diagnóstico , Microtia Congénita/cirugía , Oído Externo/cirugía , Audición , Pruebas Auditivas , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/cirugía , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/cirugía
15.
Sci Rep ; 13(1): 17716, 2023 10 18.
Artículo en Inglés | MEDLINE | ID: mdl-37853041

RESUMEN

Suggested several decades ago, the nine-step test is an intuitive test of Eustachian tube function. However, studies employing the nine-step test to assess the results of Eustachian tube balloon dilation (EBD) are limited. We aimed to objectively evaluate the efficacy of EBD in opening failure patients with decreased maximal peak pressure difference (MPD) using the nine-step test. Patients who had MPD values ≤ 13 daPa in the nine-step test were enrolled. The patients were categorized into two groups according to treatment decisions after discussion with a clinician: an EBD group (N = 26) and a medication group (N = 30). One month after treatment, the seven-item Eustachian Tube Dysfunction Questionnaire (ETDQ7) and the nine-step test were administered to all participants and subgroups of symptomatic participants (ETDQ7 > 15). MPD improved (increased) in both the EBD group and the medication group. ETDQ7 values improved (decreased) in the EBD group, but not in the medication group. In subgroup analysis, MPD and ETDQ7 values improved only in the symptomatic EBD group. According to the nine-step test, EBD can normalize 53.8% of decreased MPD. Posttreatment MPD and ETDQ7 scores were significantly better in the EBD group than in the medication group. However, EBD in patients with abnormal nine-step test results seemed less efficacious when the treatment results of the medication group were considered.


Asunto(s)
Enfermedades del Oído , Trompa Auditiva , Humanos , Dilatación/métodos , Prueba de Esfuerzo , Resultado del Tratamiento , Endoscopía , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/terapia
16.
Int J Pediatr Otorhinolaryngol ; 174: 111739, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37757708

RESUMEN

OBJECTIVES: This study aims to compare the characteristics of Wideband Acoustic Immittance (WAI) in Chinese infants under three months of age, with either normal or abnormal middle ear function. METHODS: We recruited 98 infants with either normal or abnormal middle ear function, and subsequently divided them into four groups based on their middle ear function and chronological age. The absorbances at tympanometric peak pressure (TPP) were collected across 1/3rd octave frequencies ranging from 226 to 8000 Hz. RESULTS: Among infants with normal middle ear function, no significant differences were observed concerning ear laterality. However, significant differences were noted at 3364 Hz and 4000 Hz with respect to age. For infants with either normal or abnormal middle ear function, we found significant differences at the majority of frequencies. Additionally, the receiver operating characteristic (ROC) curves and maxima Youden index indicated that absorbances at 1682 Hz and 1297 Hz could be employed to evaluate the middle ear function of infants at 1 and 2 months of age. CONCLUSION: This study demonstrates that WAI holds promise as a valuable tool for assessing the middle ear condition of infants at 1 and 2 months of age. Infants aged 1 and 2 years, having absorbance values equal to or greater than 0.7470 at 1682 Hz and 0.6775 at 1297 Hz respectively, may indicate normal middle ear function. Furthermore, it underscores the necessity of establishing ethnicity- and age-specific norms for WAI in infants under 3 months of age.


Asunto(s)
Pruebas de Impedancia Acústica , Enfermedades del Oído , Oído Medio , Humanos , Lactante , Pruebas de Impedancia Acústica/métodos , Acústica , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/fisiopatología , Oído Medio/fisiología , Oído Medio/fisiopatología , Pueblos del Este de Asia
17.
Otolaryngol Clin North Am ; 56(5): 919-931, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37553271

RESUMEN

Acquired stenosis of the external ear canal (ASEEC) is a relatively uncommon condition. Stenosis or narrowing of the external ear canal (EEC) occurs lateral to the tympanic membrane resulting in a skin lined blind canal. Recurrent otorrhea, and conductive hearing loss are typical clinical features. Although ASEEC can be due to different etiologies, a common pathogenesis, namely an inflammatory cascade, has been implicated. Clinical evaluation, audiogram, and Computed tomography (CT scan) form the mainstay of diagnosis. Surgery is the primary modality for treatment. Restenosis is the most common postsurgical complication.


Asunto(s)
Conducto Auditivo Externo , Enfermedades del Oído , Humanos , Conducto Auditivo Externo/diagnóstico por imagen , Conducto Auditivo Externo/cirugía , Constricción Patológica , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/etiología , Enfermedades del Oído/cirugía , Oído , Pérdida Auditiva Conductiva/diagnóstico , Pérdida Auditiva Conductiva/etiología , Pérdida Auditiva Conductiva/cirugía
18.
Otolaryngol Clin North Am ; 56(5): 897-908, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37550109

RESUMEN

Keratosis obturans (KO) and external auditory canal cholesteatoma (EACC) are two distinct keratinaceous lesions of the external ear. This article reviews the signs, symptoms, pathophysiology, workup, and treatment of each. Patients with either pathology can often be managed in the clinic with debridement; however, EACC is more likely to involve osteonecrosis and require more extensive operative management if disease is not confined to the canal on account of the bony erosion characteristic of cholesteatoma. If required for extensive disease, surgical approaches to both pathologies are similar.


Asunto(s)
Colesteatoma , Enfermedades del Oído , Queratosis , Humanos , Conducto Auditivo Externo/diagnóstico por imagen , Conducto Auditivo Externo/cirugía , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/cirugía , Colesteatoma/diagnóstico , Colesteatoma/cirugía , Queratosis/diagnóstico , Queratosis/patología , Queratosis/cirugía , Estudios Retrospectivos
19.
Am J Med Genet A ; 191(11): 2673-2678, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37596802

RESUMEN

Auriculocondylar syndrome (ARCND) is a rare craniofacial birth defect characterized by malformations in the mandible and external ear (Question Mark Ear). Genetically, three distinct subtypes of ARCND (ARCND1, ARCND2, and ARCND3) have been identified. ARCND2 is linked to pathogenic variants in the PLCB4 gene (phospholipase C ß4). PLCB4 is a key effector of the EDN1-EDNRA pathway involved in craniofacial development via the induction, migration, and maintenance of neural crest cells. ARCND2 is typically inherited in an autosomal dominant pattern, with recessive inheritance pattern being rare. In this study, we report the first homozygous missense variant (NM_000933.4: c.2050G>A: p.(Gly684Arg)) in the PLCB4 gene causing ARCND in a 3-year-old patient with a severe clinical phenotype of the syndrome. The patient presented with typical craniofacial ARCND features, in addition to intestinal transit defect, macropenis, and hearing loss. These findings further delineate the phenotypic spectrum of ARCND associated with autosomal recessive PLCB4 loss of function variants. Notably, our results provide further evidence that these variants can result in a more severe and diverse manifestations of the syndrome. Clinicians should consider the rare features of this condition for better management of patients.


Asunto(s)
Enfermedades del Oído , Humanos , Preescolar , Mutación , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/genética , Enfermedades del Oído/patología , Fenotipo , Oído Externo , Linaje , Fosfolipasa C beta/genética
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