Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India

Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design The study is a case series. Setting This was an international collaborative study involving a tertiary craniofacial clinic and medical genetics unit. Patients, Participants The participants were 9 families with 17 affected individuals of facial dysostosis. Intervention Exome analysis focused on known genes associated with acrofacial and mandibulofacial syndromes. Main Outcome Measure The outcome measure was to report phenotyptic and genetic heterogeneity in affected individuals. Results A Tessier cleft was seen in 7 (41%), lower eyelid coloboma in 12 (65%), ear anomalies in 10 (59%), uniolateral or bilateral aural atresia in 4 (24%), and deafness in 6 (35%). The facial gestalt of Treacher Collins syndrome (TCS) showed extensive phenotypic variations. Pathogenic variants in TCOF1 (Treacher Collins syndrome) were seen in six families, POLR1A (acrofacial dysostosis, Cincinnati type) and EFTUD2 (mandibulofacial dysostosis with microcephaly) in one each. One family (11.1%) had no detectable variation. Five out of six probands with Treacher Collins syndrome had other affected family members (83.3%), including a non-penetrant mother, identified after sequencing. Conclusion Our report illustrates the molecular heterogeneity of mandibulofacial dysostosis in India.

Evaluation and Management of Aural Atresia; Review Article

The absence of a patent ear canal, which can be acquired or congenital, is known as Aural Atresia. The most common cause of acquired Aural Atresia is an inflammatory response to trauma or otologic surgery. Although rare, acquired Aural Atresia is most commonly found after external ear trauma, such as car accidents, gunshot wounds, or recent otologic surgery. The main treatment of Aural Atresia is surgical, also the invention of bone anchored hearing devices provide greater alternative solution, each methods has its advantages of disadvantages, we hope In the future of developing more effective treatment options.

Sound Localization and Lateralization by Bilateral Bone Conduction Devices, Middle Ear Implants, and Cartilage Conduction Hearing Aids

Sound localization in daily life is one of the important functions of binaural hearing. Bilateral bone conduction devices (BCDs), middle ear implants, and cartilage conduction hearing aids have been often applied for patients with conductive hearing loss (CHL) or mixed hearing loss, for example, resulting from bilateral microtia and aural atresia. In this review, factors affecting the accuracy of sound localization with bilateral BCDs, middle ear implants, and cartilage conduction hearing aids were classified into four categories: (1) types of device, (2) experimental conditions, (3) participants, and (4) pathways from the stimulus sound to both cochleae. Recent studies within the past 10 years on sound localization and lateralization by BCDs, middle ear implants, and cartilage conduction hearing aids were discussed. Most studies showed benefits for sound localization or lateralization with bilateral devices. However, the judgment accuracy was generally lower than that for normal hearing, and the localization errors tended to be larger than for normal hearing. Moreover, it should be noted that the degree of accuracy in sound localization by bilateral BCDs varied considerably among patients. Further research on sound localization is necessary to analyze the complicated mechanism of bone conduction, including suprathreshold air conduction with bilateral devices.

Congenital aural atresia surgery: anterior mastoid and transmastoid approaches

Background Aural atresia (CAA) is a congenital abnormality with hypoplasia or aplasia of the external auditory canal. Surgical procedures of CAA is not only difficult but has still not been embraced by surgeons. Many surgeons are doubtful to perform a repair due to poor hearing results and the risk of new canal stenosis. This article describes the writers’ expertise with surgical management of aural atresia. A retrospective study of 16 cases of CAA was undertaken in the Hearing and Speech Institute between 2015 and 2018. The study consisted of 16 patients, 8 patients for each group, 10 males and 6 females between 4 and 18 years of age with a median age of 6 years. Ten patients had bilateral atresia, and 6 had unilateral atresia. Postoperatively, patients were tested for hearing recovery and follow-up lasting up to 2 years to record any complications. Purpose of the study was to compare hearing effects and risks of anterior and transmastoid approaches to external and middle ear restoration in patients with CAA. Results All patients were satisfied with the surgery by improving the hearing up to 35 dB or less after 12 months. Four patients (25%) developed soft tissue meatal stenosis, with 2 patients in each group. There were no cases of bony canal stenosis. TM perforation was seen in two patients (12.51%), one patient in each group. Lateralization of the graft was seen in one patient in the transmastoid group, and no ossicular chain refixation. Five cases had postoperative otorrhea, one in the anterior mastoid group and four in the transmastoid group. There were no other complications. Conclusions Although the findings of the hearing are close. The previous approach, due to fewer postoperative complications, is now our favorite technique. Proper alignment and soft-tissue strategies are keys to the effective correction of the congenitally atretic ear canal.

Clinical Trial for Cartilage Conduction Hearing Aid in Indonesia

Hearing improvement represents one of the may valuable outcomes in microtia and aural atresia reconstruction surgery. Most patients with poor development in their hearing function have had a severe microtia. Conventional methods to improve hearing function are bone conduction and bone anchored hearing aids. Cartilage conduction hearing aids (CCHA) represents a new amplification method. This study assessed the outcomes and evaluated the impact and its safety in the patients with microtia and aural atresia whose hearing dysfunction did not improve after surgery for ear reconstruction in our hospital. Hearing functions were evaluated with pure tone audiometry or sound field testing by behavioral audiometry and speech audiometry before and after CCHA fitting. As a result, there was a significant difference between unaided and aided thresholds (p < 0.001). Speech recognition threshold and speech discrimination level also significantly improved with CCHA. The average functional gains of 14 ears were 26.9 ± 2.3 dB. Almost all parents of the patients reported satisfaction with the performance of CCHA, and daily communication in children with hearing loss also became better than usual.