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Abstract Background Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequencing, reverse transcription (RT)-PCR, and the Minigene assay were performed. Results The probands, an 11-year-old male and his cousin exhibited typical clinical manifestations of TCS including conductive hearing loss, downward slanting palpebral fissures, and mandibular hypoplasia. Computed tomography revealed bilateral fusion of the anterior and posterior stapedial crura and malformation of the long crura of the incus. WES of both patients revealed a novel heterozygous intronic variant, i.e., c.4342 + 5_4342 + 8delGTGA (NM_001371623.1) in TCOF1. Minigene expression analysis revealed that the c.4342 + 5_4342 + 8delGTGA variant in TCOF1 caused a partial deletion of exon 24 (c.4115_4342del: p.Gly1373_Arg1448del), which was predicted to yield a truncated protein. The deletion was further confirmed via RT-PCR and sequencing of DNA from proband blood cells. A heterozygous variant in the POLR1C gene (NM_203290; exon6; c.525delG) was found almost co-segregated with the TCOF1 pathogenic variant. Conclusions In conclusion, we identified a heterozygous TCOF1 splicing variant c.4342 + 5_4342 + 8delGTGA (splicing) in a Chinese TSC family with ossicular chain malformations and facial anomalies. Our findings broadened the spectrum of TCS variants and will facilitate diagnostics and prognostic predictions.

Background: Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods: To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequencing, reverse transcription (RT)-PCR, and the Minigene assay were performed. Results: The probands, an 11-year-old male and his cousin exhibited typical clinical manifestations of TCS including conductive hearing loss, downward slanting palpebral fissures, and mandibular hypoplasia. Computed tomography revealed bilateral fusion of the anterior and posterior stapedial crura and malformation of the long crura of the incus. WES of both patients revealed a novel heterozygous intronic variant, i.e., c.4342 + 5_4342 + 8delGTGA (NM_001371623.1) in TCOF1. Minigene expression analysis revealed that the c.4342 + 5_4342 + 8delGTGA variant in TCOF1 caused a partial deletion of exon 24 (c.4115_4342del: p.Gly1373_Arg1448del), which was predicted to yield a truncated protein. The deletion was further confirmed via RT-PCR and sequencing of DNA from proband blood cells. A heterozygous variant in the POLR1C gene (NM_203290; exon6; c.525delG) was found almost co-segregated with the TCOF1 pathogenic variant. Conclusions: In conclusion, we identified a heterozygous TCOF1 splicing variant c.4342 + 5_4342 + 8delGTGA (splicing) in a Chinese TSC family with ossicular chain malformations and facial anomalies. Our findings broadened the spectrum of TCS variants and will facilitate diagnostics and prognostic predictions. [ABSTRACT FROM AUTHOR]

Purpose: Congenital malformation of the ossicular chain results in challenges with hearing and language development in children. We aimed to analyze the clinical characteristics, prognosis, and surgical treatments of different types of congenital ossicular chain malformations in children. Methods: Eight cases (10 ears) treated between October 2019 and February 2022 were analyzed retrospectively. Patients were divided according to the location of the ossicular chain malformation and whether it was complicated by external ear malformation. Imaging, audiological examination, intraoperative exploration of the middle ear, and postoperative outcomes were recorded. Results: Group 1 incudostapedial joint deformity): 6 ears/60%; Group 2 (simple incus deformity): 2 ears/20%; Group 3 (simple malleus deformity): 2 ears/20%; Group A (with external ear malformations): 4 ears/40%; Group B (without external ear malformations): 6 ears/60%. The average hearing threshold before and after the operation was 51.25 ± 12.88 and 31.94 ± 12.96 dB, respectively. There were differences in the intervention effects of different malformed sites (Group 1: t = 5.139, P = .004; Group 2: t = 13.500, P = .047; Group 3: t = 15.000, P = .042). The effect of the intervention in cases of malformation with mobile stapes footplates was better than that with immobile stapes footplates ( t = 4.082, P = .027). The effect of the intervention without external ear malformations was better than that with external ear malformations ( t = 7.706, P = .001). Conclusions: The intervention yielded superior results in cases of malformation with mobile stapes footplates compared to those with immobile stapes footplates. Different intervention strategies should be determined through precise deformity assessments, with the degree of stapes mobility serving as a crucial factor in improving the prognosis., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: The aim of this study is to describe the clinical characteristics and intraoperative findings and further evaluate the efficacy of endoscopic ossiculoplasty for the management of isolated congenital ossicular chain malformation. Methods: A retrospective study was performed on 16 ears (15 patients) with the isolated congenital ossicular chain malformation who underwent endoscopic ossiculoplasty in our department from May 2017 to January 2019. Endoscopic exploratory tympanotomy was conducted to check the ossicular chain; at the same time, endoscopic ossiculoplasty was performed depending on intraoperative findings. Air-conduction thresholds, bone-conduction thresholds, and air-bone gaps (ABGs) were measured before and after surgery, and the hearing outcome was assessed at 6 months postoperatively. Results: The most common malformations of ossicular chain were the missing of the incus long process and stapes suprastructure. A serial assessment of the hearing status was conducted before and 6 months after surgery. It showed the mean postoperative pure-tone average (PTA) was significantly reduced, and the mean postoperative ABG was obviously closed, respectively (P <.001). The mean PTA gain was 36.3 ± 8.6 dB, and the ABG closure was 35.1 ± 8.3 dB; ABG closure to 20 dB or less and ABG closure to 10 dB or less were achieved in 14 cases (87.5%) and 5 cases (31.3%), respectively. No differences were observed in postoperative hearing outcome between type Ⅲ cases and type Ⅳ cases; however, cases with partial ossicular replacement prosthesis implantation showed a larger hearing gain (P =.049) and a higher proportion of postoperative ABG less than 10 dB (P =.021). No facial palsy and significant sensorineural hearing loss occurred; all patients completed the surgery without the need of canalplasty, and the chorda tympani nerve was preserved in all patients. Conclusions: This research showed endoscopic surgery was effective in the diagnosis and management of isolated congenital ossicular chain malformation; the endoscopic ossiculoplasty provides an alternative method to manage congenital ossicular chain malformation, with comfortable hearing outcome and the advantage of excellent vision and less invasion. [ABSTRACT FROM AUTHOR]

As a novel application of implantable middle ear hearing device, round-window stimulation is widely used to treat hearing loss with middle ear disease, such as ossicular chain malformation. To evaluate the influence of ossicular chain malformations on the efficiency of the round-window stimulation, a human ear finite element model, which incorporates cochlear asymmetric structure, was constructed. Five groups of comparison with experimental data confirmed the model's validity. Based on this model, we investigated the influence of three categories of ossicular chain malformations, that is, incudostapedial disconnection, incus and malleus fixation, and fixation of the stapes. These malformations' effects were evaluated by comparing the equivalent sound pressures derived from the basilar membrane displacement. Results show that the studied ossicular chain malformations mainly affected the round-window simulation's performance at low frequencies. In contrast to the fixation of the ossicles, which mainly deteriorates round-window simulation's low-frequency performance, incudostapedial disconnection increases this performance, especially in the absence of incus process and stapes superstructure. Among the studied ossicular chain malformations, the stapes fixation has a much more severe impact on the round-window stimulation's efficiency. Thus, the influence of the patients' ossicular chain malformations should be considered in the design of the round-window stimulation's actuator. The low-frequency output of the round-window simulation's actuator should be enhanced, especially for treating the patients with stapes fixation. [ABSTRACT FROM AUTHOR]

Salivary gland choristoma of the middle ear is a rare mass characterized by the presence of normal salivary gland tissue in the middle ear cavity. This mass is usually accompanied with ossicular chain and facial nerve anomalies. Total surgical excision is a treatment of choice if the facial nerve is intact. Here, we describe a case of salivary gland choristoma of the middle ear, and discuss our experience. Our patient was a 41-year-old man presented with 6 months history of hearing loss. Intra-operatively, we detected a soft, pinkish mass with evidence of ossicular chain malformation. Patient showed hearing development in following up after three months.

Objective: To investigate the etiology, diagnosis and treatment of noninflammatory conductive hearing loss in children. Methods: The clinical data of children patients admitted to the Eye & ENT Hospital of Fudan University from January 2019 to November 2022 were retrospectively analyzed. Results: A total of 179 cases（189 ears） were analyzed. The main symptoms from high to low were: ear tightness, hearing loss, earache, and facial paralysis. The degree of hearing loss was mild in 34 ears（19.5%）, moderate in 70 ears（40.2%）, moderate-severe in 52 ears（29.9%）, severe in 18 ears（10.3%）. The mean hearing threshold of otosclerosis was the highest（63.5±7.8） dB HL, and the mean air-bone gap of ossicular chain malformation was the largest（35.4±9.8） dB HL. The mean hearing threshold of the affected ear was（50.4±14.5） dB HL, and the mean air bone gap was（30.3±10.4） dB HL. After operation, the results were（36.1± 14.5） dB HL and（20.0±8.6） dB HL, respectively. Distribution of surgical methods for ossicular chain reconstruction: 88 ears（46.6%） of TORP, 49 ears（25.9%） of PORP, 8（4.2%） ears of Piston, 9 ears（4.8%） of autogenous ossicular reconstruction, and 35 ears（18.5%） of ossicular chain relaxation. CT diagnostic rate showed more sensitivity to malleus and incus abnormalities, the diagnosis rate of congenital middle ear cholesteatoma was the highest. The mean duration time of diagnosis was（2.2±2.9） years, while the diagnosis of ossicular chain malformation（[5.2±4.2]years）, otosclerosis（[4.4±4.1]years）, tympanosclerosis（[5.4±0.9]years） took longer. Conclusion: In the diagnosis and treatment of noninflammatory conductive hearing loss in children, the combination of detailed medical history, specialized examination and imaging examination can maximize the accuracy of diagnosis and achieve the purpose of personalized comprehensive treatment. Surgical intervention with appropriate timing is important to remove lesions and improve hearing., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Congenital stapes ankylosis is reported to have an occurrence rate of 3% to 4%, and it represents 20% to 35% of ossicular malformations. Surgical treatment of congenital stapes ankylosis is described to be satisfactory in the large majority of the case series reported in the literature. In these cases, special attention should be paid to exclude any aberrations of the course of the facial nerve, which have been demonstrated to be frequently associated with congenital middle ear malformations. We describe a case of congenital stapes ankylosis associated with a previously unreported facial nerve abnormality, characterized by the presence of an empty fallopian canal in combination with a dehiscent facial nerve running over the footplate and almost totally covering it. [ABSTRACT FROM AUTHOR]