Search

Diphallia is an exceptionally rare genitourinary anomaly often associated with caudal duplication syndrome, which poses challenges in understanding its diverse nature. This case report presents a unique manifestation in a male infant born at 36 weeks to a mother with uncontrolled diabetes. The infant exhibited complete duplication of the penis, scrotum, testicles, urethra, bladder, sacrum, and right kidney, alongside major anomalies including Tetralogy of Fallot and lumbosacral spinal dysraphism with lipomyelomeningocele. Minor anomalies included abnormal ear creases, hypospadias, hydronephrosis, rectal-urethral fistulas, and a left club foot. This case represents the first documentation of such a complex constellation of supraumbilical presentation that includes abnormal ear creases and cardiac associations of Tetralogy of Fallot, right-sided aortic arch, and mirror aortic arch vessels. [ABSTRACT FROM AUTHOR]

Objective: Determine if the ideal location of the construct in microtia reconstruction for hemifacial microsomia (HFM) can be more accurately derived from measurements on the cranium. Design: High-resolution computerized tomography (CT) images were analyzed through craniometric linear relationships. Setting: Our tertiary care institution from 2000 to 2021. Patients/Participants: Patients diagnosed with HFM and microtia, who had high-resolution craniofacial CT scans, yielding 36 patients accounting for 44 CT scans. Main Outcome Measure(s): First, the integrity of the posterior cranial vault among HFM patients was determined. If proven to be unaffected, it could be used as a reference in the placement of the construct. Second, the position of the ear in relation to the cranium was assessed in healthy age-matched controls. Third, if proven to be useful, the concordance of these cranium-based relationships could be validated among our HFM cohort. Results: The posterior cranial vault is unaffected in HFM (P >.001). Further, craniometric relationships between the tragus and the Foramen Magnum, as well as between the tragus and the posterior cranium, have been shown to be highly similar and equally precise in predicting tragus position in healthy controls (P >.001). These relationships held true across all age groups (P >.001), and importantly among HFM patients, where the mean absolute difference in predicted tragus position never surpassed 1.5 mm. Conclusions: Relationships between the tragus and the cranium may be used as an alternative to distorted facial anatomy or surgeon's experience to assist in pre-operative planning of construct placement in microtia reconstruction for HFM patients. [ABSTRACT FROM AUTHOR]

Key Clinical Message: CHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm the disorder. This is significant because the patient may receive genetic counseling and appropriate disposal based on the accurate diagnosis. CHARGE syndrome is a rare genetic disorder with multiple specific clinical features. The prenatal diagnosis is crucial but rarely achieved. We report a fetus with fetal external ear abnormality detected by ultrasound at 22nd week of gestation. Postnatal examination revealed an external ear abnormality, a mild atrial septal defect, and other clinical signs of CHARGE syndrome. A de novo pathogenic nonsense mutation in the CHD7 gene (c.406C > T, p.Q136X in exon 2) was identified to cause the disorder. Our study demonstrated that prenatal diagnosis and genetic testing were recommended to obtain a solid diagnosis of CHARGE syndrome when fetal external ear abnormality was detected by ultrasound examination. [ABSTRACT FROM AUTHOR]

Objectives: Every individual possesses the inherent right to appear human. Physical imperfections, especially those affecting the orofacial region, can have a detrimental impact on one's quality of life in today's image-conscious society. Auricular abnormalities, ranging from minor malformations to complete microtia/anotia, can occur due to congenital or acquired factors. While significant... [ABSTRACT FROM AUTHOR]

Background: There is no report on the relationship between congenital malformation of the outer ear and hearing, which makes it possible to predict the hearing level just based on microtia grades. Aims/Objectives: To investigate the correlation between two types of congenital malformation of the outer ear [microtia and Outer Ear Canal Malformation (OECM)] and hearing, as well as the interrelationship among all three variables. Material and methods: A total of 535 cases (598 ears) of congenital malformation of the middle and outer ear (CMMOE) with hearing data, out of which 319 cases (349 ears) microtia with available images and graded by I–V, 449 cases (482 ears) OECM graded by atresia, stenosis and normal, and 87 cases (87 ears) OEC atresia graded I–IV, 301 cases (301 ears) with materials of microtia, OECM and hearing at the same time were carried out correlation analysis. The Average Air-Conduction Threshold of pure tone (AACT) at 0.5–4 KHz was calculated corresponding to the ears with different malformation grades. The differences in AACT among different malformation grades, the correlation between malformation severity and AACT, as well as the relationship among microtia, OECM and AACT were analyzed. The one-way analysis of variance (ANOVA) was employed to compare the differences in AACT, Kendall's tau-b rank correlation coefficient test was used for correlation analysis. A statistical significance level of p < 0.05 was applied. Results: Among the 349 ears with microtia, the corresponding AACT values for grades I to V were 61.6, 63.0, 69.9, 75.4, and 75.0 (dB HL), respectively. Comparing grade III to grades II or IV, both p < 0.05. However, p > 0.05 between grade I and II or between grade IV and V. The correlation coefficient between microtia grades and AACT r = 0.219, p < 0.05. Among the 482 ears of OECM, the distribution was as follows: 73.6% atresia, 19.1% stenosis, and 7.3% normal, the corresponding AACT values were 64.1, 61.7, and 52.5 (dB HL), respectively. Comparing normal to stenosis or atresia, both p < 0.05, while between atresia and stenosis p > 0.05. The correlation between OECM and AACT was r = 0.104, p < 0.05. The AACT values corresponding to grades I to IV of OEC atresia in the 87 ears were 59.9, 65.1, 71.1, and 64.1 (dB HL), respectively. Comparing these grades, all p > 0.05. The correlation between the degree of atresia and AACT r = 0.23, p < 0.05. The correlation coefficients for 301 ears microtia to OECM, microtia to AACT, OECM to AACT were r = 0.339, r = 0.163 and r = 0.128 respectively, with all p < 0.05. Conclusion and significance: There are positive correlations among the degree of microtia, degree of OECM, and AACT values for each other, and so between the degree of OEC atresia and AACT, suggesting that as the severity of microtia or OECM increased, the AACT also tended to be higher, which make it possible to predict the hearing level and the degree of OECM based on microtia grades in clinical practice. Additionally, there are significant differences in AACT values in microtia grade III to grades II or IV, OEC normal to stenosis or atresia, while no differences in microtia grade I to II and grade IV to V, OEC stenosis to atresia, and among the grades I–IV of the OEC atresia. [ABSTRACT FROM AUTHOR]

At present, there are not international unified standards and reports on Congenital Ear Malformation (CEM) in the world, which makes it difficult to transfer information and compare the literature. Through the statistical analysis of a large sample of CEM, a unified standard of all aspects of CEM is proposed and the data are provided for reference, which is convenient for the international work and literature comparison in this field. Based on the author's 30 years of clinical and scientific research work on CEM and the relevant cases of 3231 (4714 ears) in our hospital, and combined with literature, statistical analysis was made. This paper summarizes the classification, definition, epidemiology, embryonic development, pathogenic factors of CEM and elaborates on the clinical manifestations, examination and sequence therapy of representative Congenital Malformation of the Middle and Outer Ear (CMMOE). We also introduce malformation of the auricle and inner ear, so as to cover the outer, middle and inner ear. At the same time, we introduce our achievements and contributions in this field. This study provides reference to the international unified standard and treatment principle of the CEM. [ABSTRACT FROM AUTHOR]

There is no report about the definition, classification and clinical epidemiological study of congenital ear malformation (CEM). Aims/Objectives: To investigate the definition, clinical classification and distribution of a large number of CEM cases, along with the clinical and epidemiological characteristics associated with congenital malformation of the middle and outer ear (CMMOE). A total of 3231 cases (4714 ears) with CEM and related malformations were retrospectively analyzed, including 2,658 cases (4,064 ears) CEM and 573 cases (650 ears) preauricular fistulas and accessory ears, specifically related malformations to CEM. Among the 2,658 cases (4,064 ears) CEM, 64.9% cases were male and 35.1% were female. 52.9% cases with bilateral, 29.1% with right and 18.0% with left CEM. A subgroup of 1,050 cases (1,331 ears) was identified as CMMOE out of 1,090 cases (1,379 ears) microtia. In the CMMOE subgroup, 74.0% cases were male, 46.3% on the right side, 26.8% showed bilateral involvement. Out of the CMMOE with available images, there were 947 cases (1,105 ears). Additionally, related malformations including preauricular fistulas and accessory ears, were solely occured in 573 cases (650 ears), except for their occurrence simultaneously with CEM. The classification and distribution of CEM are as follows: 1. 2658 cases of CEM (1) 69.9% of them were confined to the ear, including: ① the outer ear 2.6%, the middle ear 17.0% and the inner ear 32.4%, ② two parts simultaneous malformations of the outer ear, the middle ear and the inner ear 17.2%, ③ three parts simultaneous malformations of the outer ear, the middle ear and the inner ear 0.6%, (2) Multiple malformations including in CEM 29.1%; (3) syndromes related to CEM 1.0%. 2. 1050 cases of CMMOE (1) 36.3% of them were confined to the middle and outer ears; (2) Multiple malformations associated with CMMOE 61.4%, including hemifacial microsomia 50.5%, accessory ears 9.8%, preauricular fistulas 9.2%, heart malformation 7.1%, and kidney malformation 2.0%; and (3) syndromes related to CMMOE 2.3%, (4) Complications of the ear 16.9%, mainly including otitis media 7.9%, outer ear canal cholesteatoma 6.3%, retroauricular abscess 1.1%, and nasal and pharyngeal complications 18.6%. The proportions of microcia grades I–Ⅴ based on the images of 1105 ears CMMOE were 5.2%, 10.5%, 74.1%, 6.9%, and 3.3%, respectively. Among the 1331 ears CMMOE, the incidence rates of outer ear canal atresia, stenosis, normal, and ossicles malformation were 86.5%, 9.9%, 3.6%, and 98.3%, respectively. Conclusion and Significance: Approximately 69.9% of CEM cases were confined to the ear itself, with the highest proportion being inner ear malformation alone. Multiple malformations were predominantly associated with CMMOE. Syndromes related to CEM were relatively rare. Among cases of microtia, 96.3% were classified as CMMOE. These cases were predominantly observed in males, right ear and exhibited characteristics such as grade III microtia, atresia of the outer ear canal, ossicles malformation, and multiple malformations. The multiple malformations frequently included hemifacial microsomia, accessory ear, preauricular fistula, as well as heart and kidney deformities. CMMOE often coexisted with ear infections, cholesteatoma, and complications in the nasal and pharyngeal regions. [ABSTRACT FROM AUTHOR]

Background: In pure tone audiometry, when the difference of the Average Air Conduction Threshold of pure tone (AACT) between bilateral ears is more than 40 dB HL masking must be performed on the poor side, However, we found that masking also make significance difference when the binaural AACT difference (AACT-d)was less than 40 dB HL in some patients. Aims/Objective: Assessing the significance of masking for the poor ear in pure tone audiometry in patients with different types of deafness to obtain preoperative accurate hearing. Material and methods: A comparative analysis of 163 cases (163 ears) with hearing difference between two ears was conducted, who were divided into three groups: G1 Congenital Malformation of the Middle and Outer Ear (CMMOE)as conductive deafness, 63 ears, G2 sudden deafness as sensorineural deafness, 65 ears, and G3 media otitis as conductive or mixed deafness,35 ears. AACT-d before and after the poor ear masking was analyzed under the following three conditions: (1) 0.125–8 KHz each frequency, (2) 0.5–4 KHz on average, (3) the frequencies of AACT-d ≥ 40 dB HL and <40 dB HL between the two ears before masking. If the sample data did not follow a normal distribution, the Wilcoxon rank sum test was used for comparasion of AACT, and p < 0.05 was considered statistically significant. It is clinically effective for AACT-d ≥ 15 dB HL at 1 frequency or 10 dB HL ≤ AACT-d at 2 frequencies <15 dB HL before and after masking. Results: Among the three groups, (1) the comparasion of AACT-d before and after the poor ear masking for each frequency of 0.125–8 KHz and 0.5–4 KHz on average with all p < 0.05, and the AACT-d of the G1 group was the largest, with an average 0.5–4KHz of 7.5 dB HL, and the first two were 14.5 dB HL and 13.8 dB HL at 0.125 KHz and 0.25 KHz, respectively. (2) AACT-d ≥ 40 dB HL and <40 dB HL between the two ears before masking were distributed at the full frequency of 0.125–8KHz, the clinically effective rates of ≥40 dB HL groups were G1 (89.3%), G2 (45.5%) and G3 (5.3%), while those of < 40 dB HL groups were G1 (69.7%), G2 (34.4%) and G3 (31.3%), respectively. Conclusion and significance: For all three groups, there was statistically significant in AACT-d before and after the poor ear masking across each frequency of 0.125–8 KHz and on average 0.5–4 KHz. The distribution of AACT-d ≥ 40 dB HL and <40 dB HL between the two ears before masking was observed throughout the full frequency range of 0.125–8 KHz. AACT-d before and after the poor ear masking showed clinical effectiveness in all three groups, with the highest effective rate observed in the G1 group and the highest AACT-d at 0.125 KHz and 0.25 KHz. Therefore, regardless of whether the AACT-d between the two ears before masking is ≥40 dB HL or <40 dB HL, the full frequency masking should be employed in three groups, especially for the G1 group of CMMOE, particularly at 0.125 KHz and 0.25 KHz. [ABSTRACT FROM AUTHOR]

Key Clinical Message CHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm the disorder. This is significant because the patient may receive genetic counseling and appropriate disposal based on the accurate diagnosis. Abstract CHARGE syndrome is a rare genetic disorder with multiple specific clinical features. The prenatal diagnosis is crucial but rarely achieved. We report a fetus with fetal external ear abnormality detected by ultrasound at 22nd week of gestation. Postnatal examination revealed an external ear abnormality, a mild atrial septal defect, and other clinical signs of CHARGE syndrome. A de novo pathogenic nonsense mutation in the CHD7 gene (c.406C > T, p.Q136X in exon 2) was identified to cause the disorder. Our study demonstrated that prenatal diagnosis and genetic testing were recommended to obtain a solid diagnosis of CHARGE syndrome when fetal external ear abnormality was detected by ultrasound examination.

Objective: The aim of this study is to evaluate the relationship between the cochlear nerve and the anatomical structures of the cochlea and internal acoustic canal in patients with congenital hearing loss. Materials and Methods: Temporal tomography and magnetic resonance images of 44 patients (88 ears) with non-syndromic congenital hearing loss were retrospectively analyzed between 2018 and 2021. Patients were divided into 2 groups according to cochlear nerve hypoplasia. Cochlear nerve canal width, cochlear basal/ middle turn widths, and internal auditory canal widths were examined. Results: Cochlear nerve hypoplasia was detected in 18.2% (n = 16) of the patients and all of the patients with cochlear nerve hypoplasia had severe hearing loss. A statistically significant difference was found between the structures' widths in patients with and without cochlear nerve hypoplasia, in cochlear nerve canal and coronal width of the internal auditory canal. When stenosis is accepted as <1.4 mm for cochlear nerve canal and <3.80 mm for coronal width of the internal auditory canal, cochlear nerve hypoplasia differs statistically between the groups in measurements (respectively; P < .001, P = .018). Conclusions: In patients with sensorineural hearing loss, cochlear nerve hypoplasia may accompany. Anatomical structures are important in predicting cochlear nerve hypoplasia from temporal computed tomography. Cochlear nerve hypoplasia should be suspected if the cochlear nerve canal and coronal width of the internal auditory canal are less than 1.4 mm and 3.8 mm, respectively, on temporal computed tomography. [ABSTRACT FROM AUTHOR]

Objective: To assess hearing rehabilitation in patients with congenital aural atresia using an active middle-ear implant (Vibrant Soundbridge). Methods: Of a cohort of 70 microtia and atresia patients, 10 underwent Vibrant Soundbridge implantation between 2008 and 2021. Two of the 10 patients had binaural implantation, resulting in 12 ears for analysis. Pre- and post-operative audiometry data were analysed, and patient satisfaction was evaluated. Surgical issues regarding coupling sites and outcomes were analysed. Results: Pure tone average (0.5, 1, 2 and 4 kHz) improved from a pre-operative mean (standard deviation) of 65.3 (8.7) dB HL to a post-operative mean of 26.8 (4.9) dB HL. This resulted in a mean pure tone average gain of 38.5 dB HL. The results indicate no obvious difference between stapes (n = 8) and incus (n = 4) coupling. The mean effective gain for 0.5, 1, 2 and 4 kHz was −17.8 dB HL (standard deviation = 4.3). Concerning effective gain, Vibrant Soundbridge performed best at 2 kHz. Patients reported high overall satisfaction, good sound quality and strongly improved directional hearing. Conclusion: An active middle-ear implant (Vibrant Soundbridge) allows hearing rehabilitation in selected atretic ears, and provides long-term hearing stability in children and adults. [ABSTRACT FROM AUTHOR]

Background: Patients with congenital aural atresia (CAA) can present with concomitant temporomandibular joint (TMJ) retroposition, implying that even with a high Jahrsdoerfer score, canaloplasty and tympanoplasty cannot be performed. Therefore, this study aimed to summarize the clinical manifestations and share our diagnostic and treatment experience of this rare entity, which has not been described previously. Methods: Thirty patients (30 ears) with CAA and TMJ retroposition without maxillofacial dysplasia were included. Diagnosis was based on patient history, physical examination, pure-tone average test results, and temporal bone high-resolution computed tomography (HRCT) findings. Their Jahrsdoerfer scores and interventions were also recorded. Results: Twenty-four and six patients among the 30 patients (males, n = 15) had CAA and TMJ retroposition on the right and left sides, respectively. Seventeen ears had a normal auricle; most had an enlarged cavum conchae and a large tragus. Twelve ears had an accessory auricle, and two had a preauricular fistula. All external auditory canals had complete atresia, including four with a shallow concavity and four with a small orifice in the cavum conchae. Temporal bone HRCT revealed poor or undeveloped tympanic temporal bone in the diseased ears, atresia in the external auditory canals, and partial/complete occupation of the mandibular condyle with or without soft tissue. The average Jahrsdoerfer score was 8.17. Thirteen patients opted for different surgeries, three wore a bone-conduction hearing aid, and fourteen chose no intervention. Conclusions: CAA with TMJ retroposition was often unilateral, typically on the right side. Most patients had normal auricles, with an enlarged cavum conchae and a large tragus ("mirror ear"). Even with a high Jahrsdoerfer score, traditional hearing reconstruction surgery could not be performed. Patients can undergo Vibrant Soundbridge or Bonebridge implantation or wear bone-conduction hearing aids to improve hearing levels, or refuse intervention because of mild hearing loss. The TMJ location can be used as a Jahrsdoerfer Grading System supplement for preoperative evaluation. [ABSTRACT FROM AUTHOR]

Objective: This study investigated the audiometric and sound localisation results in patients with conductive hearing loss after bilateral Bonebridge implantation. Method: Eight patients with congenital microtia and atresia supplied with bilateral Bonebridge devices were enrolled in this study. Hearing tests and sound localisation were tested under unaided, unilateral and bilateral aided conditions. Results: Mean functional gain was higher with a bilateral fitting than with a unilateral fitting, especially at 1.0–4.0 kHz (p < 0.05, both). The improvement in speech reception threshold in noise with a bilateral fitting was a 2.3 dB higher signal-to-noise ratio compared with unilateral fitting (p < 0.05). Bilateral fitting had better sound localisation than unilateral fitting (p <0.001). Four participants who attended follow up showed improved sound localisation ability after one year. Conclusion: Patients demonstrated better hearing threshold, speech reception thresholds in noise and directional hearing with bilateral Bonebridge devices than with a unilateral Bonebridge device. Sound localisation ability with bilateral Bonebridge devices can be improved through long-term training. [ABSTRACT FROM AUTHOR]

Objective: Oculoauriculovertebral spectrum (OAVS) is a genetically and clinically heterogeneous disorder that occurs due to a developmental field defect of the first and second pharyngeal arches. Even though recent whole exome sequencing studies (WES) have led to identification of several genes associated with this spectrum in a subset of individuals, complete pathogenesis of OAVS remains unsolved. In this study, molecular genetic etiology of OAVS was systematically investigated. Design/Setting/Patients: A cohort of 23 Turkish patients with OAVS, referred to Hacettepe University Hospital, Department of Pediatric Genetics from 2008 to 2018, was included in this study. Minimal diagnostic criteria for OAVS were considered as unilateral microtia or hemifacial microsomia with preauricular skin tag. The cohort was clinically reevaluated for craniofacial and extracranial findings. Molecular etiology was investigated using candidate gene sequencing following copy number variant (CNV) analysis. WES was also performed for 2 of the selected patients. Results: Patients in the study cohort presented similar demographic and phenotypic characteristics to previously described patients in the literature except for a higher frequency of bilaterality, cardiac findings, and intellectual disability/developmental delay. CNV analysis revealed a possible genetic etiology for 3 patients (13%). Additional WES in 1 of the 2 patients uncovered a novel heterozygous nonsense variant in Elongation factor Tu GTP-binding domain-containing 2 (EFTUD2) causing mandibulofacial dysostosis with microcephaly (MFDM), which clinically overlaps with OAVS. Conclusion: Detailed clinical evaluation for any patient with OAVS is recommended due to a high rate of accompanying systemic findings. We further expand the existing genetic heterogeneity of OAVS by identifying several CNVs and a phenotypically overlapping disorder, MFDM. [ABSTRACT FROM AUTHOR]

Background: Cat eye syndrome (CES) is a rare congenital disease frequently caused by a partial tetrasomy of the proximal long (q) arm of chromosome 22, due to a small supernumerary marker chromosome (sSMC). CES patients show remarkable phenotypic variability. Despite the progress of molecular cytogenetic technology, the cause of phenotypic variability and the genotype-phenotype correlations remain unknown., Methods: We analyzed clinical and genetic data of a new patient with CES together with 27 previously reported ones with a confirmed genomic gain in the PubMed database between 2012 and 2023., Results: We reported a boy with CES carrying a 22q11.1-q11.21 duplication of 1.76 Mb tetrasomy (16888900&#95;18644241, hg19) who presented currently rare or unreported clinical findings such as congenital aural atresia, hearing loss, PLSVC, and IVC. The results of the whole exome sequencing (WES) showed a heterozygous mutation of the GJB2 gene (NM&#95;004004.6: exon2: c.109G > A). In addition, the results of our literature review showed that the presence of a classical sSMC was the most frequent cytogenetic abnormality in CES (82%). 63% of cases were in a homogenous state and 37% of cases were in a mosaic state. 72% of cases had a 1-2 Mb duplication. In the majority of CES patients the breakpoints in chromosome 22 are localized to a 50 kb region (18610000&#95;18660000 bp). The CES critical region (CESCR) may be further delimited to a 0.3 Mb region (17799398&#95;18111588 bp). Within this region CECR2, SLC25A18, ATP6V1E1, and BCL2L13 are strong candidate genes for causing the main CES phenotype. The ear anomalies are the most frequent features in CES patients (89%) and hearing loss was present in 36% of CES patients., Conclusions: The phenotypic features in CES are highly variable. Our findings expand the symptom spectrum of CES and lay the foundation for better delineating the clinical phenotype, molecular cytogenetic features associated with CES and genotype-phenotype correlations. We recommend performing WES to rule out the involvement of other genetic factors in the patient's phenotype. In addition, our findings also highlight the need for genetic counseling and recurrence risk assessment., (© 2024. The Author(s).)

Objectives: To evaluate and compare audiological outcomes of atresiaplasty and Bonebridge (BB) implantation in patients with unilateral congenital aural atresia (UCAA), to guide clinical decision-making., Methods: Twenty-seven subjects diagnosed with UCAA were included in the study. Thirteen were implanted with the BB, while 14 undergone atresiaplasty. All patients underwent pre-and post-surgery examinations, including pure-tone audiometry, sound field threshold (SFT), speech reception threshold (SRT), word recognition score (WRS), and horizontal sound source localization tests., Results: (1) Postoperatively, the average SFT decreased by 11.79 ± 5.93 dB HL in the atresiaplasty group and by 24.46 ± 9.36 dB HL in the BB group, with a significantly greater decrease in the BB group compared to the atresiaplasty group (P < 0.05). (2) Both groups demonstrated a significant improvement in average disyllabic WRS postoperatively under normal ear-masking conditions, with the BB group showing a significantly higher improvement than the atresiaplasty group. (3) When the speech signal was presented from the CAA side with noise from the normal hearing side, both surgical groups exhibited a significant decrease in postoperative signal-to-noise ratio compared to preoperative levels, with improvements of 2.14 ± 2.95 dB SNR in the atresiaplasty group and 4.92 ± 5.83 dB SNR in the BB group (P < 0.05). (4) The average minimum audible angle preoperative in the atresiaplasty group was 29.71 ± 18.42°, which decreased to 18.1 ± 10.07° at 6 months postoperatively, showing a statistically significant improvement (P < 0.05)., Conclusion: We concluded that both atresiaplasty and Bonebridge implantation can significantly improve speech perception under both quiet and noisy conditions in children with UCAA. BoneBridge implantation appears to provide better audiological outcomes than atresiaplasty. Atresiaplasty can significantly improve the accuracy of sound localization. No significant improvement in sound localization accuracy was observed in the short period after Bonebridge implantation. Further research should be conducted with a larger sample size and longer follow-up time., Competing Interests: Declaration of competing interest The authors declare that they have no competing interests., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Objectives: To analyze anatomic variations of the temporal bone in congenital aural atresia (CAA) and their correlation with the Jahrsdoerfer score, in order to guide clinical selection of surgical treatment methods., Material and Methods: We retrospectively studied 53 patients (72 ears) with unilateral or bilateral CAA, including 34 ears with normal hearing as controls. Audiological and imaging data were collected and analyzed. We evaluated the Jahrsdoerfer score and anatomical variations, including tegmen mastoideum position, anterior sigmoid sinus displacement, and elevated jugular bulb., Results: The average air conduction hearing threshold (PTA4) ranged from 0.5 to 4 kHz was 65.48 ± 8.19 dBHL, with an average Jahrsdoerfer score of 4.93 ± 2.78. In CAA group, there was a higher prevalence and severity of anterior sigmoid sinus and low position of the tegmen mastoideum (P < 0.01). However, there was no significant difference in incidence rates among groups with high jugular bulb (P > 0.05). Anterior sigmoid sinus and high jugular bulb showed no correlation with the Jahrsdoerfer score, while the low position of the tegmen mastoideum had a weak correlation. The Jahrsdoerfer score did not adequately predict temporal bone anatomical abnormalities in CAA patients., Conclusion: CAA exhibit a higher incidence and greater severity of temporal bone anatomical abnormalities compared to the control group, and the Jahrsdoerfer score inadequately assesses these abnormalities. Anomalies like low position of the tegmen mastoideum, anterior sigmoid sinus, and high jugular bulb should also be considered as independent factors influencing surgical decisions for atresiaplasty., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of an atypical TBS phenotype patient from a Chinese family are described, with predominant manifestations including external ear dysplasia, unilateral renal hypoplasia with mild renal dysfunction, and hearing impairment. A novel heterozygous variant c.3060T>A (p.Tyr1020*) in exon 2 of the SALL1 gene was identified in this proband. Pyrosequencing of the complementary DNA of the proband revealed that the variant transcript accounted for 48% of the total transcripts in peripheral leukocytes, indicating that this variant transcript has not undergone nonsense-mediated mRNA decay. This variant c.3060T > A is located at the terminal end of exon 2, proximal to the 3' end of the SALL1 gene, and exerts a relatively minor impact on protein function. We suggest that the atypical TBS phenotype observed in the proband may be attributed to the truncated protein retaining partial SALL1 function., (© 2024 Asian Pacific Society of Nephrology.)

Retrosigmoid sinus (RS) approach was not the dominant choice for BONEBRIDGE implantation. To investigate the efficacy and safety of auricular reconstruction concomitant with BONEBRIDGE implantation using retrosigmoid approach for aural atresia patients. A retrospective analysis was conducted of 15 children (28 ears) who underwent auricular reconstruction using a completely expanded postauricular flap with a skin expander concomitant with retrosigmoid BONEBRIDGE implantation from July 2019 to September 2020. All 15 patients healed well and had no bone conduction shift. Average SFT improvement was 27.1 dB HL (p <.001). Comparison between aided and unaided speech recognition rate in quiet and in noise showed significant improvements, respectively (p <.001). After a follow-up of 21-35 months, the hearing results were stable and the aesthetic outcomes were satisfying. For patients who undergo auricle reconstruction using expanded postauricular flap, retrosigmoid approach can avoid interfering the flap of reconstructed auricular without increasing the surgical risk or impact the clinical efficacy, and without significantly prolonging the total anesthesia time. The integrated surgical approach is a safe, and convenient option for patients who require simultaneous auricular reconstruction with BONEBRIDGE implantation. [ABSTRACT FROM AUTHOR]

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM. Using whole-genome sequencing, we identified a de novo start-codon loss (c.3G > T) in the EFTUD2. We examined EFTUD2 expression in the patient by RNA sequencing and observed a notable functional consequence of the variant on gene expression in the patient. We identified a novel variant for the development of MFDM in humans. To the best of our knowledge, this is the first report of a start-codon loss in EFTUD2 associated with MFDM. [ABSTRACT FROM AUTHOR]

Hemifacial microsomia is the second most frequently encountered congenital facial anomaly after cleft lip and palate. This case history report describes a two-implant-supported auricular prosthetic reconstruction in a young patient with an absent auricle and malpositioned lobule. The selected treatment protocol was chosen because of its superior retention when compared with alternative retention systems. Moreover, a clip-bar attachment system is more reliable and easier to use when availability of anatomical landmarks is limited, and especially in active adolescents. [ABSTRACT FROM AUTHOR]

Introduction: Otological disorders, including Eustachian tube dysfunction (ETD), are commonly observed in divers. Data were gathered to observe the prevalence of ear disorders, and awareness of ear health recommendations for recreational divers in the United Kingdom. Methods: An anonymous online survey included: diver/diving demographics, the validated Eustachian Tube Dysfunction Questionnaire 7 (ETDQ-7) (a mean score of ≥ 2.1 indicating the presence of dysfunction), pre-existing ear health conditions, medications, decongestants and knowledge of diving and ear health guidance. Results: A total of 790 divers (64% males) responded (age range 16–80, median 47 years). An ETDQ-7 mean score of ≥ 2.1 was calculated in 315 of 790 respondents (40%), indicating varying degrees of ETD; 56/315 (18%) recorded a pre-existing ear condition. Ear disorders, (external, middle, and inner ear issues) since learning to dive were recorded by 628/790 (79%) of respondents; 291/628 (46%) did not seek medical advice. ETDQ-7 scores of ≥ 2.1 to 6.6 were reported by 293/628 (47%). Six reported inner ear decompression sickness. Decongestants were used by 183/790 (23%). Two hundred and seventy-seven of 790 divers (35%) had aborted a dive with ear problems. Only 214/790 (27%) of respondents were aware of the United Kingdom Diving Medical Committee guidance regarding ear health and diving. Conclusions: Ear problems and ETD since diving were widely reported in this cohort of divers, with not all divers in this study aware of ear health recommendations and advice. [ABSTRACT FROM AUTHOR]

Background: Precise preoperative radiological evaluation of aural atresia is of utmost importance for surgical planning. Until now, multislice computed tomography (MSCT) has been used but it cannot adequately visualize small structures such as the stapes. Flat-panel volume CT (fpVCT) with its secondary reconstructions (fpVCT SECO ) offers a high-resolution visualization of the middle ear. New otosurgical planning software also enables detailed 3D reconstruction of the middle ear anatomy., Aim of the Work: Evaluation of the use of fpVCT SECO in combination with an otosurgical planning software for a more accurate diagnosis and treatment of congenital aural atresia., Material and Methods: Seven patients with congenital aural atresia underwent preoperative MSCT (600 µm slice thickness) and corresponding fpVCT (466 µm slice thickness). In addition, fpVCT SECO (99 µm slice thickness) were reconstructed. The Jahrsdoerfer and Siegert grading scores were determined and their applicability in the abovementioned imaging modalities was evaluated. In addition, the malleus incus complex was analyzed in 3D rendering., Results: Imaging with fpVCT SECO enabled reliable visualization of the abnormalities, in particular the ossicular chain. A significant difference in the Siegert grading score was found. In addition, the malleus-incus complex could be visualized better in 3D., Discussion: The introduction of new imaging techniques and surgical planning techniques into the diagnostic concept of aural atresia facilitates the identification of malformed anatomy and enables systematic analysis. This combination can also help to more accurately classify the pathology and thus increase the safety and success of the surgical procedure., (© 2024. The Author(s).)

The article presents a case study of a 05-week-old female infant with bilateral microtia and external auditory canal atresia. Topics include second-trimester fetal ultrasound detecting polyhydramnios and a 2-vessel umbilical cord; and demonstrating a small supernumerary marker chromosome consistent with Cat-Eye syndrome (CES).

Copyright of Revista Médica Clínica Las Condes is the property of Editorial Sanchez y Barcelo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Auriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition that typically manifests as question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. Severe dental and maxillofacial malformations present considerable challenges in patients' lives and clinical treatment. Currently, only a few ARCND cases have been reported worldwide, but most of them are related to genetic mutations, clinical symptoms, and ear correction; there are few reports concerning the treatment of dentofacial deformities., Case Presentation: Here, we report a rare case of ARCND in a Chinese family. A novel insertional mutation in the guanine nucleotide-binding protein alpha-inhibiting activity polypeptide 3 (GNAI3) was identified in the patient and their brother using whole-exome sequencing. After a multidisciplinary consultation and examination, sequential orthodontic treatment and craniofacial surgery, including distraction osteogenesis and orthognathic surgery, were performed using three-dimensional (3D) digital technology to treat the patient's dentofacial deformity. A good prognosis was achieved at the 5-year follow-up, and the patient returned to normal life., Conclusions: ARCND is a monogenic and rare condition that can be diagnosed based on its clinical triad of core features. Molecular diagnosis plays a crucial role in the diagnosis of patients with inconspicuous clinical features. We present a novel insertion variation in GNAI3, which was identified in exon 2 of chromosome 110116384 in a Chinese family. Sequential therapy with preoperative orthodontic treatment combined with distraction osteogenesis and orthognathic surgery guided by 3D digital technology may be a practical and effective method for treating ARCND., (© 2024. The Author(s).)

Objectives: When there is a difference in hearing on both ears, where to perform the first cochlear implantation (CI) becomes an important issue. The purpose of the study was to evaluate which ear should be chosen for the first implantation in sequential bilateral CI with a long inter-implant period., Methods: The study population consisted of 34 severe-to-profound sensorineural hearing loss pediatrics with the inter-implant period of ≥3 years between the first CI (CI-1) and the second CI (CI-2) before the age of 19 (mean of inter-implant period: 7.1-year). The patients were classified into Group A (CI-1 was performed on the ear with better hearing), Group B (CI-1 on the ear with worse hearing), or Group C (symmetrical hearing in both ears). Speech intelligibility test results were compared between the groups., Results: The monosyllabic word scores of CI-1 were excellent in Groups A (91.7±7.9%) and B (92.5±3.6%) but slightly lower in Group C (85.7±14.9%) before the second implantation ( P = .487). At 3 years after the second implantation, all groups demonstrated excellent scores in the bilateral CI condition (95.9±3.0% in Group A; 99.1±.8% in Group B; 97.5±2.9% in Group C, P = .600). However, when the patients were tested in using CI-2 only in Groups A and B after using bilateral CI for 3 years, the scores were inconsistent in Group A (79.6±23.9%; range: 22.2-94.4%), while those were higher and more constant in Group B (92.9±4.8%; 86.8-100.0%)., Conclusions: The first CI is strongly recommended to perform on a worse hearing ear if they had different hearing levels between ears. Even with the first CI on a worse hearing ear, its performance never deteriorates. In addition, if they receive the second CI several years later, it will be likely that the second one functions better., Competing Interests: Conflicts of Interested DisclosuresThe authors declare no conflicts of interest related to the present study.

Objectives: This study aimed to determine whether the improvement of hearing by surgical treatment alleviates cognitive demands through pupil response in patients with unilateral congenital aural atresia (CAA)., Design: A prospective study was performed on patients with unilateral CAA who were scheduled to undergo primary atresioplasty between November 2017 and May 2020. Pure-tone audiometry, auditory digit span test, Korean Speech Perception in Noise test, pupil measurement during speech tests, and questionnaires (Sound-Spatial-Qualities of Hearing Scale; subjective listening effort rating) were performed before and 6 months after surgery., Results: Of 30 consecutive patients who initially enrolled, only 18 patients (12 males and 6 females) were included in the analysis. When the improvement of the air-bone gap and interaural difference of air conduction within 30 dB was defined as a successful hearing outcome, successful hearing improvement was achieved in 50% of the 18 patients. In pupil measurement, the success group had a significantly smaller mean pupil dilation response than the nonsuccess group at 0 and -3 dB signal to noise ratio (SNR) (all p < 0.01). In addition, significant differences were identified between the two groups for peak dilation and peak latency at all noise levels (all p < 0.01). When analyzing the change in pupil response before and after surgery, the difference in relative mean pupil dilation in the success group was significantly greater than that in the nonsuccess group at -3 dB SNR ( p = 0.02). In addition, the success group showed a significantly greater change in peak latency than the nonsuccess group at the -3 dB SNR ( p < 0.01). The difference in peak dilation tended to be greater in the success group than in the nonsuccess group, but the difference was not statistically significant., Conclusions: Patients with unilateral CAA who achieved surgically improved hearing had a smaller pupil dilation response than those who did not. These results suggest that successful hearing outcomes after surgery in patients with unilateral CAA may reduce the cognitive effort required to understand speech under difficult listening conditions., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: The association between microtia severity and hearing function has been thoroughly investigated. This study examined the relationship between microtia grade, number of ear subunits (i.e., helix, antihelix, scapha, triangularis fossa, concha, lobule, tragus, and antitragus) with auditory brainstem response (ABR) findings in children with microtia., Study Design: A retrospective chart review was employed in this study., Method: We analyzed the ABR test results and photographs of 22 children with 30 microtia ears at Dr. Cipto Mangunkusumo National Hospital, Jakarta. The ABR test results were acquired using click (air conduction only) and 500-Hz tone burst stimuli (air- and bone-conduction). Ear photographs were overlaid with a template of a normal ear to determine the number of ear subunits present and the subsequent microtia grade. Number of ear subunits and ABR results were analyzed using the chi-square, Mann-Whitney U , and Spearman's correlation tests., Results: ABR thresholds for click and 500-Hz tone bursts air-conduction were significantly poorer for ears with a subunit < 5 compared to ears with a subunit ≥ 5. No significant difference was observed in 500 Hz bone-conduction ABR thresholds between these groups. Correlation analysis showed a significant negative correlation between increased ear subunits and click ABR thresholds. No significant correlation was found between ear subunits and 500-Hz air- and bone-conduction ABR thresholds., Conclusions: A higher number of ear subunits are associated with a lower hearing threshold, as assessed using ABR with click stimuli. Therefore, the number of ear subunits and microtia grades can be used to examine the hearing level thresholds in infants and children with microtia., Supplemental Material: https://doi.org/10.23641/asha.25669440.

Purpose: The indications of Vibrant Soundbridge (VSB) have been expanded to include patients with conductive and mixed hearing loss due to congenital aural atresia (CAA). However, the current evidence supporting the auditory outcomes of VSB is based mainly on case reports and retrospective chart reviews. Therefore, the present systematic review aims to summarize and critically appraise the current evidence regarding the safety and effectiveness of VSB in children and adult patients with CAA., Methods: A systematic literature search retrieved studies that evaluated the outcomes of unilateral or bilateral implantation of VSB in patients with CAA. The bibliographic search was conducted in PubMed, Scopus, EBSCO, and Cochrane Central Register of Controlled Trials (CENTRAL) databases from January 2000 to December 2022., Results: Twenty-seven studies were included in the present systematic review. Overall, the speech perception after VSB was good, with a mean word recognition score (WRS) score ranging from 60 to 96.7%. The mean postoperative speech recognition threshold (SRT) after implantation ranged from 20.8 to 50 dB. The effective gain was reported in 15 studies, ranging from 31.3 to 45.5 dB. In terms of user satisfaction with VSB, the included studies showed significant improvements in the patient-reported outcomes, such as the Speech Spatial and Qualities of Hearing scale and Glasgow Hearing Aid Benefit Profile. The VSB implantation was generally safe with low incidence of postoperative complications., Conclusion: VSB provides significant benefits to individuals with hearing loss owing to CAA, with very good subjective outcomes and a low risk of complications., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: The COVID-19 pandemic has introduced a period of social isolation that has challenged the ability of providers to uphold in-person patient care. Although commonplace in pediatric otolaryngology, multidisciplinary clinics pose a unique challenge during this time due to increased infection risk from multiple patient-provider interactions. Guidance on the application of telemedicine for multidisciplinary clinics in pediatric otolaryngology is limited. Methods: We provide comprehensive guidance on best practices for conducting telemedicine visits for a number of multidisciplinary otolaryngology clinics using our experiences at a single tertiary care children's hospital. A review of literature to support the adoption of telemedicine in multidisciplinary pediatric otolaryngology is also incorporated. Results: Telemedicine was successfully adopted for 7 multidisciplinary pediatric clinics with a variety of specialists: aerodigestive disorders, congenital hearing loss, microtia/aural atresia, orofacial clefting, sleep disorders, tracheostomy care, and velopharyngeal dysfunction. Conclusions: Telemedicine is feasible for a variety of multidisciplinary clinics and its optimization is critical for providing care to complex pediatric otolaryngology patients during the COVID-19 pandemic and beyond. [ABSTRACT FROM AUTHOR]

Bonebridge is an suitable option for conductive hearing loss, however, the traditional approach cannot accomplished a satisfying implantation for patients with congenital malformation or radical mastoidectomy. To evaluate the clinical application of retrosigmoid sinus approach in Bonebridge implantation and postoperative evaluation. 11 patients who underwent retrosigmoid sinus approach Bonebridge implantation from March 2016 to September 2019 were retrospectively analyzed, including 6 males and 5 females, aged 12–54 years old (30.6 in average). Among them, 4 cases had undergone bilateral radical mastoidectomy, 6 cases had bilateral congenital aural atresia or stenosis, and 1 case had unilateral congenital aural atresia. All patients underwent Bonebridge implantation through retrosigmoid sinus approach according to the preoperative image reconstruction and plan. There was no surgical injury of sigmoid sinus or cerebrospinal fluid leakage during the operation. The aided threshold obtained an increase of 32.32 dB HL; the speech recognition rates of bisyllabic words, monosyllabic words and sentence were 79.6%, 67.8% and 75.0%, respectively. After 11–53 months of follow-up, the hearing effect was stable and no long-term complications occurred. The retrosigmoid sinus approach is an effective surgical approach for patients with congenital ear deformities or radical cavity after mastoidectomy. [ABSTRACT FROM AUTHOR]

Detailed studies have not been conducted on sound localization and speech perception in noise in patients with unilateral congenital aural atresia (UCAA). To evaluate the benefits of the use of the Vibrant Soundbridge (VSB) for UCAA by performing audiometric and sound localization tests. Four children with UCAA underwent VSB (VORP 503) implantation from 2018 to 2019. Speech perception tests in noise were conducted using the Japanese monosyllable test. The spatial configuration for speech testing consisted of speech presented from the front and noise presented into the normal ear (S0N90). The sound localization test was conducted using nine loudspeakers equally distributed in a semicircle. The children's speech perception in noise 6 months after VSB activation was significantly better than before activation (p <.05). Additionally, the children's sound localization ability after VSB activation was significantly better than before VSB activation. The benefits of VSB use in children with UCAA were revealed using audiometric and sound localization tests. [ABSTRACT FROM AUTHOR]

Introduction: Preoperative imaging, besides audiological evaluation, plays a major role in evaluation of candidacy for auditory implants, and in particular cochlear implants. It is essential to assess whether the basic criteria necessary for implantation are met. Diagnostic imaging is crucial not only in determining candidacy, but also determining the feasibility of cochlear implantation as it allow to anticipate surgical difficulties which could preclude or complicate the implantation of the device. The aim of the study is to present the protocol for the evaluation of preoperative imaging studies with particular focus on the factors potentially affecting clinical decisions in children qualified for cochlear implantation. Material and method: Preoperative imaging studies of 111 children performed prior to cochlear implantation were analyzed: high-resolution computed tomography (HRCT) of temporal bones and MRI. The assessment was made according to the presented protocol. Results: Pathologies and anomalies identified during the assessment of preoperative imaging studies significantly altered clinical decisions in 30% of patients. In the study group, in 17% of patients inner ear malformations were identified. 2.7% of children were disqualified from a cochlear implantation due to severe congenital inner ear malformations. 9% of the patients have had bacterial meningitis. In 50% of them difficulties related to complete or progressive cochlear ossification occurred. In 4.5% of patients less common surgical approaches other than mastoidectomy with a posterior tympanotomy were applied. Discussion: Preoperative imaging allow for the identification of significant pathologies and anomalies affecting qualification decisions and further treatment. HRCT and MRI are complementary to each other for preoperative imaging. The two modalities in combination allow accurate and optimal evaluation of the anatomical structures prior to implantation. Inner ear malformations and cochlear ossification following meningitis are relatively frequently encountered in children qualified for a cochlear implant. [ABSTRACT FROM AUTHOR]

Background: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions., Methods: We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia., Result: The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%)., Conclusions: Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes., (© 2024. The Author(s).)

Background: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457)., Methods: This study reports a case of ARCND2 resulting from a novel pathogenic variant in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypes of ARCND2., Results: The proband, a 5-day-old male neonate, was referred to our hospital for respiratory distress. Micrognathia, microstomia, distinctive question mark ears, as well as mandibular condyle hypoplasia were identified. Trio-based whole-exome sequencing identified a novel missense variant of NM&#95;001377142.1:c.1928C>T (NP&#95;001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. From a review of the literature, only 36 patients with PLCB4 gene mutations were retrieved., Conclusion: As with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families' heterozygous mutations in PLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long-term follow-up and assessment are still required., (© 2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Purpose: To describe innovative surgical technique for closure of large defect following complicated preauricular cyst excision secondary to prior failed excision attempts, infections, and drainage procedures. Preauricular cysts must be widely excised including any fistulous tracts in order to reduce recurrence rates; however, the resultant large local excision poses cosmetic challenges. Methods: Retrospective chart review of 3 patient cases who underwent excision of recurrent preauricular lesions involving cervical parotid flap closure. All three cases demonstrate complicated preauricular congenital cysts which were infected and had prior drainage, excision attempts, or sclerotherapy. A cervicoparotid flap was used to close all defects cosmetically with no facial nerve weakness and without distortion to the oral commissure or lateral canthus. Results/conclusions: There is a high recurrence rate seen with wide local congenital cyst excisions that have been previously excised, infected, and drained; as well as, cosmetically unfavorable outcomes utilizing traditional repair. Utilizing our closure technique which involves reconstructive local regional flap with cervicoparotid approach our 3 patients have had no reoccurance of cyst or infection. Our approach also maximizes cosmetic outcomes, with reduced scar visibility. Pre and postoperative photos will be shown. [ABSTRACT FROM AUTHOR]

In this paper, we draw on evidence to address the impact of earlier identification of congenital hearing loss through universal newborn hearing screening (UNHS) and the associated earlier access to interventions including cochlear implant (CI) technology on outcomes of children with hearing loss. Data from the Longitudinal Outcomes of Children with Hearing Impairment (LOCHI) study were analysed to examine the impact of UNHS and earlier intervention on language outcomes. The LOCHI study includes more than 450 deaf and hard of hearing Australian children whose hearing losses were identified variously through newborn hearing screening or later paths to confirmation and intervention. Seventy-two percent of the screened group received hearing aid fitting before 6 months of age, which more than doubled the 32% in the non-screened group. On average, children who received earlier intervention achieved language at age 5 years commensurate with their typically developing peers. Children who do not have disabilities in addition to hearing loss and received their first CIs before age 12 months achieved language scores within the range of typically developing peers. Newborn hearing screening led to earlier intervention. Children who received earlier intervention achieved better outcomes than those who received later intervention. [ABSTRACT FROM AUTHOR]

Background Accessory auricles (AAs) are common congenital anomalies. We present a new classification according to location and shape, and propose a system for coding the classifications.

Folliculosebaceous cystic hamartoma (FSCH) is a rare cutaneous hamartoma that consists of follicular, sebaceous, and mesenchymal elements. These lesions are mostly seen on the central face and scalp of adults and mostly present as single 0.5-1.5 cm papules or exophytic nodules. A 17-year-old female patient presented at our clinic with the complaint of swelling, pain and discharge in front of the left ear, which had been recurrent since childhood. The lesion was clinically suspected to be an infected preauriculer sinus cyst. After the medical treatment, the patient was operated on with a pre-diagnosis of preauricular sinus cyst. Histopathological findings revealed FSCH. To the best of our knowledge, this is the first reported case of FSCH originating from the preauricular region, located subcutaneously. [ABSTRACT FROM AUTHOR]

The association between folic acid supplementation and birth defects other than neural tube defects (NTD) remains unclear. We used a log-binomial regression model to investigate if periconceptional folic acid and/or multivitamin use was associated with birth defects in Norway with prospectively collected data from the Medical Birth Registry of Norway (MBRN) during 1999–2013. We used the European Surveillance of Congenital Anomalies (EUROCAT) classification system to define eleven organ-specific major birth defect groups (nervous system, eye, ear–face–neck, cardiovascular system, respiratory system, oral clefts, digestive system, abdominal wall, urinary system, genital organs and limb), with additional subgroups. Fetuses or infants whose mothers used folic acid and/or multivitamin supplements before and during pregnancy were classified as exposed. During the years 1999–2013, 888 294 (99·0 %) live-born infants, 6633 (0·7 %) stillborn infants and 2135 (0·2 %) fetuses from terminated pregnancies due to fetal anomalies were registered in the MBRN. Among the live- and stillborn infants of women who used vitamin supplements compared with infants of non-users, the adjusted relative risk (aRR) was 0·94 (95 % CI 0·91, 0·98) for total birth defects (n 18 382). Supplement use was associated with reduced risk of abdominal wall defects (aRR 0·58; 95 % CI 0·42, 0·80, n 377), genital organ defects (aRR 0·81; 95 % CI 0·72, 0·91, n 2299) and limb defects (aRR 0·81; 95 % CI 0·74, 0·90, n 3409). Protective associations were also suggested for NTD, respiratory system defects and digestive system defects although CI included the null value of 1. During the full study period, statistically significant associations between supplement use and defects in the eye, ear–face–neck, heart or oral clefts were not observed. [ABSTRACT FROM AUTHOR]

Background: The aim of this study is to develop a two-stage training module using radish and swine scapular cartilage for carving ear cartilage. Methods: In the first stage, white radish was cut in 3--6 mm thick slices. The ear cartilage framework was carved using a graver and the helix and antihelix were fixed with pins. In the second stage, swine scapular cartilage was obtained. The thickness varied 3--6 mm. The ear cartilage framework was made. And triangular fossa and scaphoid fossa were carved with graver. A curvilinear cartilage for helix was assembled to the framework by pin fixing. Six participants were recruited for an ear reconstruction training workshop and figures of the cartilage framework were provided. Participants were asked answer the pre-workshop questionnaire and post-workshop questionnaire on a Likert scale to rate their satisfaction with the outcome. Results: On the pre-workshop questionnaire, participants indicated that they did not have sufficient knowledge and skill for fabricating the ear cartilage framework (1.5± 0.5 using white radish; 1.3 ± 0.5 using swine scapular cartilage). On the post-workshop questionnaire, participants responded that they had learned useful knowledge from this workshop, reflecting a significant improvement (3.8± 1.0 using white radish; 4.0± 1.1 using swine scapular cartilage). They also indicated that they had become somewhat confident in this skill (4.2± 0.8 using white radish; 4.3± 0.5 using swine scapular cartilage. The participants generally found the workshop satisfactory (practically helpful, 4.7± 0.5; knowledge improved, 4.8± 0.4; satisfied with course, 4.5± 0.5; would recommend to others, 4.8± 0.4). Conclusion: This model can be useful for ear reconstruction training for medical personnel. [ABSTRACT FROM AUTHOR]

Round window atresia (RWA) is an uncommon condition and can result in a conductive hearing loss. Two cases of nonsyndromal bilateral RWA in 2 members of the same family are reported. Both cases presented with a conductive hearing loss of 20 to 30 dB. High-resolution computed tomography scanning was used to diagnose the condition. The patients were rehabilitated with hearing aids. Review of the literature has shown disappointing results in hearing improvement with cochlear fenestration in an attempt to address this condition. Patients presenting with unexplained conductive hearing loss should be offered computed tomography scanning. The cases we report add to the literature to benefit future patients in preoperative counseling and better inform management. [ABSTRACT FROM AUTHOR]

This study compared the language, reading, classroom, and quality of life outcomes of primary school-aged children with aural atresia (AA) to matched controls. Participants included 10 children with AA (eight unilateral) and 10 children with typical hearing matched by chronological and mental age. All children with AA had been fitted with an amplification device. Outcome measures included standardized tests of language, reading, and functional communication questionnaires of children's classroom performance and hearing quality of life. The children with AA recorded significantly reduced hearing quality of life. The two groups did not differ on any other measures. The present preliminary findings suggest that children with AA who receive early amplification have similar language, communication, reading, and classroom outcomes as their typically hearing peers. Despite these promising outcomes, however, the children's quality of life is significantly reduced. Further research is needed to further elucidate these findings. [ABSTRACT FROM AUTHOR]

When the cartilage on the prominent ears is reshaped, the arising stress returns the tissue to its initial configuration. Laser irradiation of areas of maximal stress leads to stress relaxation and results in a stable configuration. Sixty auricles were harvested from 30 New Zealand white rabbits and cut into a rectangle measuring 50 mm by 25 mm with an average thickness of approximately 1.3 mm. Bilateral skin was included for ex vivo studies. Continuous cryogen spray cooling (CSC) with laser energy was delivered to the exposed cartilage for reshaping. In clinical applications, from January 2006 to December 2016, a total of 50 patients with 100 bat ears who underwent CO2 laser reshaping (otoplasty) were assessed. A continuous cooling system (4 °C) in conjunction with a CO2 laser was applied to make a retroauricular-approached incision and reshape the ear cartilage. The well cartilage bending correlated with the different parameters demonstrated in the continuous CSC protected group. All 100 (100%) of the subjects experienced early complications (≤ 1 month) related to laser exposure with swelling, while 5 (5%) experienced ecchymosis, 2 (2%) minimal hematoma, 2 (2%) scarring, 1 (1%) minor infection, 1 (1%) under correction, 1 (1%) overcorrection, and 1 (1%) relapse. These problems were corrected and/or had resolved after 3 months. All patients achieved good to excellent results in our final outcome assessment (> 6 months). Laser reshaping has a potential use in certain surgical procedures involving the cartilage. The appropriate conditions for laser ear reshaping clearly depend on the laser wavelength used, energy controlling, and tissue optical properties. [ABSTRACT FROM AUTHOR]

Meier-Gorlin syndrome is a rare recessive disorder characterized by a number of distinct tissue-specific developmental defects. Genes encoding members of the origin recognition complex (ORC) and additional proteins essential for DNA replication (CDC6, CDT1, GMNN, CDC45, MCM5, and DONSON) are mutated in individuals diagnosed with MGS. The essential role of ORC is to license origins during the G1 phase of the cell cycle, but ORC has also been implicated in several nonreplicative functions. Because of its essential role in DNA replication, ORC is required for every cell division during development. Thus, it is unclear how the Meier-Gorlin syndrome mutations in genes encoding ORC lead to the tissue-specific defects associated with the disease. To begin to address these issues, we used Cas9-mediated genome engineering to generate a Drosophila melanogaster model of individuals carrying a specific Meier-Gorlin syndrome mutation in ORC4 along with control strains. Together these strains provide the first metazoan model for an MGS mutation in which the mutation was engineered at the endogenous locus along with precisely defined control strains. Flies homozygous for the engineered MGS allele reach adulthood, but with several tissue-specific defects. Genetic analysis revealed that this Orc4 allele was a hypomorph. Mutant females were sterile, and phenotypic analyses suggested that defects in DNA replication was an underlying cause. By leveraging the well-studied Drosophila system, we provide evidence that a disease-causing mutation in Orc4 disrupts DNA replication, and we propose that in individuals with MGS defects arise preferentially in tissues with a high-replication demand. [ABSTRACT FROM AUTHOR]

A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina, which affects an abnormal communication between the larynx, trachea and esophagus. The genetic etiology of LC remains elusive. The involvement of genetic factors in the development of LC is suggested by reports of familial occurrence, and the increased prevalence of component features among first-degree relatives of affected individuals and murine knockout models. No consistent pattern of inheritance has been found in nonsyndromic patients, except for cases associated with described syndromes. Once the syndrome related to the laryngeal cleft is considered, an active search for the cleft must be initiated. The genetic evaluation of patients with LCs should be guided by the type and location of the malformation, specific medical history and a detailed physical examination. The application of genetic approaches, such as microarrays and exome sequencing might lead to elucidating the etiology of LCs. [ABSTRACT FROM AUTHOR]

Goldenhar syndrome (GHS) is a complex syndrome characterized by relation of mandibular hypoplasia, abnormality of the ear, ocular dermoid and vertebral disorders and hemi facial macrosomia. Treatment protocol depends on the patient's age and systemic clinical presentations, with a multidisciplinary method often being required. This case report describes a typical 6-year-old female patient who presented to the Department of Pediatric Dentistry, Faculty of Dentistry, University of Medical Sciences, Kerman, Iran with mandibular hypoplasia, facial asymmetry, ear tags and ocular dermoid after plastic surgery. Diagnosis was based on clinical aspects, radiology and laboratory findings. GHS is a developmental complaint that can disturb many aspects of the patient's life; therefore, immediate treatment from birth is necessary. [ABSTRACT FROM AUTHOR]