Congenital Ear Malformations Research Articles

Genotype-phenotype associations in microtia: a systematic review

BackgroundMicrotia 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.MethodsWe 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.ResultThe 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%).ConclusionsOur 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.

A clinical epidemiological study on congenital ear malformation (CEM)

BackgroundThere 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).Material and MethodsA 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.ResultsAmong 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.

Effect of Cadherin-11 on the Proliferation, Migration, and ECM Synthesis of Chondrocyte

Nonsyndromic microtia is a kind of congenital ear malformation with unclear pathogenic genes. Cadherin-11 (CDH11, OB-cadherin) is a member of the cadherin family, which has been demonstrated to play important roles in controlling morphogenesis and cell biological characteristics during multiple developmental processes. In the present study, we found low expression of CDH11 in microtia cartilage compared with the normal one for the first time. For a more comprehensive and in-depth understanding of CDH11 in microtia development, we performed both gain- and loss-of-function experiments to detect the effect of CDH11 on chondrocytes. CDH11 promoted chondrocyte proliferation by increasing S-phase cell numbers and increasing cell migration, which is important for tissue morphogenesis. Additionally, knockdown of CDH11 in chondrocytes reduced the quality of engineered cartilage by decreasing the key transcription factors of chondrogenesis, SOX9 expression, and cartilage ECM production, including collagen type II (COL2A) and elastin (ELN), compared to the control group. Furthermore, RNA-Seq on CDH11 knockdown chondrocytes showed that it was highly related to HOX family genes, which have been reported to be important regulatory genes patterning craniofacial tissue formation. This study identified CDH11 as a candidate pathogenic gene of microtia and supported the potential key role of CDH11 in craniofacial malformations.

Ten years' experience with bone conduction hearing aids in the Western Cape, South Africa.

Untreated conductive and mixed hearing losses as a result of middle ear pathology or congenital ear malformations can lead to poor speech, language and academic outcomes in children. Lack of access to centralised hearing healthcare in resource-constrained environments limits opportunities for children with hearing loss. Red Cross War Memorial Children's Hospital (RCWMCH) is one of only two dedicated paediatric hospitals in sub-Saharan Africa. Between 2016 and 2021, 29 children received implanted bone conduction hearing devices, and 104 children were fitted with bone conduction devices on softbands. The authors' experience at RCWMCH suggests that bone-anchored hearing devices, either fitted on softbands or on implanted abutments, can provide solutions in settings where patients have limited access to hearing healthcare and optimal classroom environments. Hearing healthcare should be accessible and delivered at the appropriate level of care to mitigate the adverse effects of hearing loss in children.Contribution:This article describes strategies employed at RCWMCH such as fitting bone conduction hearing devices on a softband immediately after hearing loss diagnosis and conducting follow-up via remote technology to make hearing healthcare more accessible to vulnerable populations.

Deeply supervised vestibule segmentation network for CT images with global context‐aware pyramid feature extraction

Accurate vestibule segmentation for CT images is of great significance for the clinical diagnosis of congenital ear malformations and cochlear implant. However, it is still a challenging task due to extremely small size and irregular shape of vestibule. Here, a vestibule segmentation network for CT images is proposed under the basic encoder-decoder framework. Firstly, a residual block based on channel attention mechanism, named Res-CA block, is designed to guide the network to enhance the important features for the segmentation tasks while suppressing the irrelevant ones. And then, a global context-aware pyramid feature extraction (GCPFE) module is proposed to capture multi-receptive-field global context information. Finally, active contour with elastic (ACE) loss function is adopted to guide network learning more detailed information of the boundary. Furthermore, deep supervision (DS) mechanism is employed to locate the boundaries finely, improving the robustness of the network. The experiments are conducted on the self-established VestibuleDataset and UHRCT-Dataset, as well as publicly available retinal dataset, namely DRIVE, to comprehensively verify the robustness and generalization capability of the proposed segmentation network. The experimental results show that the proposed network can achieve a superior performance.

Association Between Maternal Exposure to SO2 and Congenital Ear Malformations in Offspring: A Population-Based Case-Control Study in Liaoning Province, China.

Objectives: To examine associations between maternal sulfur dioxide (SO2) exposure and congenital ear malformations risk in offspring. Methods: We surveyed 1676 cases with congenital ear malformations and 7950 controls from the Maternal and Child Health Certificate Registry of Liaoning Province between 2010 and 2015. SO2 concentrations were obtained from the Municipal Environment Protection Bureau of Liaoning Province. Multivariable logistic regression models and Restricted cubic splines (RCS) model were used to assess the aforementioned association. Results: There were significant associations between maternal SO2 exposure and congenital ear malformations risk during the 3 months before conception (OR Q4 vs. Q1 = 1.93, 95% CI = 1.43–2.59) and the 3 months after conception (OR Q4 vs. Q1 = 1.63, 95% CI = 1.22–2.18). Similar results were obtained in the analysis of single-month exposure windows, except for the third month before conception and the third month after conception. Moreover, these findings were broadly consistent across subgroups and robust in sensitivity analyses. There were non-linear dose-response associations between SO2 exposure and congenital ear malformations based on restricted cubic spline model analysis. Conclusion: Maternal SO2 exposure is associated with increased congenital ear malformations risk in offspring.

Congenital spontaneous otogenic cerebrospinal fluid leak as a cause of recurrent meningitis in a 9-year-old child – case report and literature review

<b>Introduction:</b> Congenital otogenic CSF leak is a rare cause of meningitis. The underlying reason may be a defect of the fundus of internal auditory meatus with pathological communication with the inner ear and CSF leak to middle ear space. This condition requires surgical closure. </br></br> <b>Case report:</b> A 9-year-old boy with a history of recurrent meningitis – 3 episodes. During the last episode, β-2 transferrin test from ear fluid was positive. The patient complained of leakage of clear fluid through the nose on the right side. Otoscopy revealed a bulging tympanic membrane on the right side. The right ear was deaf with normal hearing on the left side. HRCT revealed congenital deformity of the right inner ear. Right side lateral petrosectomy with blind sac closure of the right external auditory canal was performed. During surgery there was an extensive CSF leak through the oval window niche due to a lack of the stapes footplate in the anterior part. Recovery was uneventful. After 24 months of follow up, no more leakage through the nose was observed. Control magnetic resonance performed one year after surgery showed no CSF in the mastoid cavity. </br></br> <b>Discussion:</b> Inner ear malformations are a rare cause of meningitis, and the most common sites of congenital otogenic CSF leakage include the oval and round window. Surgical closure is the only solution in such cases. Several methods of sealing the inner ear space were described in the literature. Vestibular packing and stapedectomy were most frequently used. However, recurrences were stated in up to 1/2 of cases. Such a risk can be limited with lateral petrosectomy. For this reason, LP can be considered as the treatment of choice in congenital spontaneous otogenic cerebrospinal fluid leak. </br></br> <b>Conclusion:</b> Every case of recurrent meningitis in children should be investigated with a suspicion of congenital ear malformation with spontaneous CSF leakage. Lateral petrosectomy is a safe and effective procedure for cases of otogenic CSF leak with a low risk of recurrence.

Multislice Spiral Computer Tomography Findings of Simple Congenital Middle Ear Malformations.

Background Simple congenital middle ear malformations (SCMEMs) are a group of congenital ear malformations. The study aims to analyze the multi-slice spiral computer tomography (MSCT) manifestations of normal ears and SCMEM ears. Objectives This study aimed to investigate the MSCT manifestations of normal ears and SCMEM ears and to evaluate the relationship between the SCMEM and the tympanic segment of the FNC pathway. Methods This was a retrospective case-control study. Patients who were diagnosed with SCMEM were included in the SCMEM group. Patients with vertigo, pulsatile tinnitus, or other symptoms were included in the control group. MSCT examination and image processing of the ossicular chain, facial nerve canal, and related structures were performed and compared between the two groups. Results There were 94 cases in the SCMEM group (125 ears) and 97 cases in the control group (190 ears). Sixty-three cases (67.0%) were unilateral malformations (36 right ears and 27 left ears). MSCT showed congenital stapes malformation in 107 ears (85.6%) and incus long process malformation in 84 ears (67.2%). Among these, simple stapes malformations were found in 41 ears (32.8%), simple incus malformation in 18 ears (14.4%), and stapes malformation complicated with incus malformation in 66 ears (52.8%). The distance between the facial nerve and lateral semicircular canal (FNC-LSC) in the SCMEM group was 1.30 ± 0.64 mm compared to 0.79 ± 0.11 mm in the control group (P < 0.001), and the distance between facial nerve canal and oval window (FNC-OW) was 0.67 ± 0.53 mm in the SCMEM group and 1.13 ± 0.18 mm in the control group (P < 0.001). Conclusion SCMEM occurred mainly in ossicular chain abnormalities. MSCT clearly showed the slight structural changes in the middle ear and provided an accurate basis for preoperative diagnosis.

Round window implantation of vibrant soundbridge through a retrofacial approach

Objective:To investigate the specific retrofacial approach for application of vibrant soundbridge （VSB） to the round window （RW） in patients with complex congenital ear malformation. Methods:The clinical information of four patients with congenital ear malformation were retrospectively analyzed. VSB were implanted unilaterally in these four patients via a retrofacial approach. During the operation, it is difficult to reach the RW via a classic posterior tympanotomy pathway, due to the mastoid portion of FN positioned anteriorly severely. So the round window niche was identified through a retrofacial pathway and the round window vibroplasty was completed. Results:All four patients received the round window vibroplasty successfully via retrofacial approach. Satisfied auditory benefit were confirmed after surgery. Compared with the preoperative data, clear improvements in both hearing threshold and the speech discrimination score were confirmed after VSB activation. Neither intraoperative nor postoperative surgical complications was observed in all patients. Conclusion:During the round window vibroplasty, when it was unable to access the RW through the classic facial recess pathway due to the aberrant facial nerve， the retrofacial approach could be a valid and feasible alternative approach.

Vrozené vývojové vady vnitřního ucha

Summary Congenital malformations of the inner ear consist of many different anomalies of the labyrinth. They often cause hearing loss, mostly of the sensorineural type. Eighty percent of hearing loss is caused by an anomaly of the membranous labyrinth, and 20% by an anomaly of the bone labyrinth. The role in pathogenesis is played by hereditary factors and influence of the environment. The treatment depends on the severity of the hearing loss, abnormalities of the external and middle ear, associated defects, and presence and function of the auditory nerve. We have modern hearing aids or implantable systems. Another options include a sign language and mouth-reading. The article includes a retrospective analysis of patients with congenital inner ear malformations at our tertiary center in 2010–2020. In conclusion, our patients clearly prove that even children with profound hearing loss are successfully implanted and restored hearing can be achieved in most of them. Key words congenital ear malformation – inner ear – hearing loss – anomalies of bony labyrinth – anomalies of membranous labyrinth – rehabilitation

Progress in diagnosis and treatment of congenital ear malformation

先天性外中耳畸形是头面部最常见的出生缺陷，包括形态畸形和结构畸形。近年来随着专科整形理念的逐步完善、多学科诊疗的融合与发展，各种治疗技术不断完善，国内外相继发表相关诊疗共识。本文就先天性外中耳畸形的最新研究成果和诊疗进展进行综述。.

Vestibule segmentation from CT images with integration of multiple deep feature fusion strategies.

Vestibule Segmentation is of great significance for the clinical diagnosis of congenital ear malformations and cochlear implants. However, automated segmentation is a challenging task due to the tiny size, blur boundary, and drastic changes in shape and size. In this paper, a vestibule segmentation method from CT images has been proposed specifically, which exploits different deep feature fusion strategies, including convolutional feature fusion for different receptive fields, channel attention based feature channel fusion, and encoder-decoder feature fusion. The experimental results on the self-established vestibule segmentation dataset show that, compared with several state-of-the-art methods, our method can achieve superior segmentation accuracy.

A retrofacial approach of round window vibroplasty during Vibrant Soundbridge implantation for patients with congenital ear malformation

ObjectiveTo describe the specific retrofacial surgical approach for application of Vibrant Soundbridge (VSB) to the round window (RW) in patients with congenital ear malformation. MethodsFour patients with congenital ear malformation were implanted with VSB unilaterally through a retrofacial approach in present study. During the operation, the round window niche was identified through a retrofacial pathway and the floating mass transducer (FMT) was attached to the RW inferiorly. ResultsSatisfied outcomes were confirmed after surgery. No intraoperative or postoperative surgical complications were observed in all patients. ConclusionWhen the facial nerve was aberrant or it was unable to access the RW through the classic facial recess pathway during the round window vibroplasty, the retrofacial approach could be a valid and feasible alternative approach.

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.

The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), and to determine the association between physical findings and hearing loss. Patients with an IBMFS underwent comprehensive clinical and laboratory evaluations and testing for syndrome-specific gene mutations. Hearing loss was measured by pure tone audiometry and otologic abnormalities by otomicroscopy. Patients included 33 with FA, 37 with DC, 32 with DBA, and nine with SDS. Hearing loss was most frequent in patients with FA (45%) and DBA (14%). The most common type of hearing loss in FA was conductive (65%). Absent or hypoplastic radius, noted in 21% of the patients with FA, was associated with hearing loss in all cases. Otomicroscopy was abnormal in 66% of patients with FA. Characteristic ear abnormalities included small tympanic membrane (66%), malformed malleus (57%), aberrant tympanic bony island (48%), narrow external auditory canal (EAC) (32%), and abnormal course of chorda tympani (34%). Ear malformations were almost always associated with hearing loss. Hearing loss was rare in patients with DC and SDS. FA is the major IBMFS with associated hearing loss, which is most commonly conductive. Radial hypoplasia or aplasia and characteristic congenital ear malformations are associated with hearing loss in patients with FA. Recognition of these syndrome-specific abnormalities should lead to earlier management of hearing loss.

Prevalence and ethnic variation of pre-auricular sinuses in children

ObjectivesPre-auricular sinus (PAS) describes a congenital ear malformation presenting as a pit or sinus that may become infected, often requiring antibiotics and/or surgical excision. Although the presentation of PAS in otolaryngology clinics is not uncommon, there is limited epidemiological data regarding this malformation in children. Some evidence also suggests a potential ethnic variation in prevalence rates and potential heritability patterns within families, however these have yet to be proven. This study is the first to use pediatric population level data to investigate prevalence rate, ethnic variation, and to explore the unproven hypotheses of a genetic basis of PAS. MethodsIn this prospective cross-sectional study, we enrolled 1106 subjects (mean age=6.8, male-to-female ratio=1.15:1) between June and September 2014. Subjects were recruited from B.C. Children's Hospital in Vancouver, Canada. Inclusion criteria was children <18 years of age; exclusion criteria was those seeking care for PAS. Subjects were visually inspected for the presence of PAS by clinical observers followed by verbal questionnaire (demographics, self-identified ethnicity, family history of PAS, chronic medical conditions). Data analysis utilized Pearson Chi-Square Test to determine the potential ethnic variation, and odds ratios of family history were used to determine a potential genetic basis. Results26 (7 bilateral, 19 unilateral) of 1106 subjects were positive for PAS (2.4%). Using Pearson Chi-Square Test, a significant ethnic variation was found to exist (χ2 (6,N=1106)=22.80, p<0.0001), with Asians having the highest prevalence (6.6%), followed by African Americans (4.5%), Middle Easterners (3.4%), First Nations (2.0%), and Caucasians (1.2%). None were found in South Asians (n=124) or Latin Americans (n=18). Subjects with positive family history of PAS had greater likelihood of having PAS (OR=16.7, 95% CI=7.3–38.5, p<0.0001). There was also stronger association between family history and bilateral PAS (OR=26.5, 95% CI=5.8–121.7, p<0.0001) compared to unilateral PAS (OR=12.2, 95% CI=4.6–32.5, p<0.0001). ConclusionsThis was the largest pediatric population level study to date, and showed the prevalence of PAS was 2.4% in this pediatric population, whose ethnic diversity was representative of B.C.’s community. A significant ethnic variation existed and associations between family history and PAS suggested a potential genetic basis, particularly with bilateral PAS.

Review of accessory tragus with highlights of its associated syndromes.

Accessory tragus is a developmental defect involving malformation of part of the external ear. It is a moderately rare congenital condition reported in 1858 by Birkett for the first time. Histological features of accessory tragus include a thin layer of stratum corneum with a rugated epidermis, presence of eccrine glands, and irregular spatial positioning of vellus hair follicles accompanied by sebaceous glands. Accessory tragus is commonly a limited deformity; however, it can be a sign of associated congenital syndromes. It has been shown to be associated with Goldenhar syndrome, Townes-Brocks syndrome, Treacher-Collins syndrome, VACTERL syndrome, and Wolf-Hirschhron syndrome. Surgical excision, the most common form of management of accessory tragus lesions, typically leads to a positive outcome. An extensive search was performed using pubmed.gov, Embase, MedLine, and Googlescholar.com using key words: accessory tragus, congenital malformations of ear, first branchial arch, and embryology. In this paper, we review the clinical and histological presentation, associated syndromes, management, and outcome of accessory tragus.

Congenital Anomaly of Cochlea: A Case Report

Congenital malformations of inner ear are rare anomalies. These occur due to arrested development at different stages of embryogenesis. One rare anomaly of inner ear is Mondini dysplasia. Possibly it occurs due to arrested development of cochlea in its embryonic stage at about sixth week of gestation. In this anomaly only basal turn of cochlea is developed. There is deficient interscalar septum for distal one & half turn. Thus bony cochlea is restricted to 1.5 turns only. This causes sensorineural hearing loss. One such anomaly was recognized clinically in a 4yrs old girl who presented with congenital deafness. Thorough systemic & specific examination was done.Radiological examination (Computed Tomography) revealed, that there was defect in the turn of cochlea i.e. cochlea was only one half turn.

Concordance Rates of Birth Defects After Assisted Reproductive Technology Among 17 258 Japanese Twin Pregnancies: A Nationwide Survey, 2004^|^ndash;2009

BackgroundMost twins after assisted reproductive technology (ART) are dizygotic. Analysis of dizygotic twin pairs is useful in assessing familial aggregation in the development of birth defects.MethodsUsing nationwide post-ART data from the Japan Society of Obstetrics and Gynecology, recurrence risk ratios (RRRs)—defined as probandwise concordance rates of birth defects in twins divided by the prevalence of birth defects in the general population—were calculated as indicators of familial aggregation. Birth defects were then reclassified according to the ICD-10 categories corresponding to codes Q00–Q99. From 2004 to 2009, there were 17 258 twin pregnancies.ResultsAt least 1 birth defect was noted in 236 twin pairs: 11 concordant and 225 discordant pairs. Regarding major organ systems, high probandwise concordance rates were observed for congenital malformations of eye, ear, face, and neck (11.8%), cleft lip and cleft palate (10.5%), congenital malformations of the nervous system (9.8%), and other congenital malformations of the digestive system (9.5%). High RRRs were observed for congenital malformations of eye, ear, face, and neck (RRR = 233), specifically other congenital malformations of the ear (RRR = 449); congenital malformations of the great arteries (RRR = 235), specifically those of the patent ductus arteriosus (RRR = 530); and for cleft lip and cleft palate (RRR = 208), specifically cleft palate with cleft lip (RRR = 609). The probandwise concordance rate of any birth defect (8.9%) was nearly identical to the approximated recurrence risk of sib-pairs (8.8%), which assumed multifactorial inheritance.ConclusionsThe present findings suggest that familial aggregation is a factor in some birth defects.

Management of repeated trauma to bone-anchored hearing aids in a paediatric patient

To outline the management options and neurological complications associated with repeated traumatic falls that cause intrusion of bone-anchored hearing aid abutments. A three-year-old boy with coloboma, heart defects, atresia of nasal choanae, retarded growth, genital abnormalities, ear defects and deafness was fitted with a bone-anchored hearing aid for severe conductive hearing loss and congenital ear malformations. Six months later, a traumatic fall caused an intrusion injury which rendered the bone-anchored hearing aid abutment unusable. Without removing the original abutment, a second abutment was inserted on the same side to aid his hearing. Two years later, the child fell again and damaged his second bone-anchored hearing aid abutment. Having been offered a surgical option to repair the area, the parents opted to keep the abutments in situ. Direct trauma to the fixture of a bone-anchored hearing aid is a relatively common long-term complication in children which can disrupt osseointegration and disable the implant. For young children who are either prone to falling or have behavioural problems, a bone-anchored hearing aid Softband may be more appropriate to non-invasively aid hearing.

Multiple Congenital Anomalies after Assisted Reproductive Technology in Japan (between 2004 and 2009)

Multiple congenital anomalies (MCAs) are defined as two or more unrelated major structural malformations that cannot be explained by an underlying syndrome or sequence. The percentage and combination patterns of MCAs were analyzed using the European surveillance of congenital anomalies computer algorithms for nationwide data on congenital anomalies after assisted reproductive technology between 2004 and 2009 in Japan. There were a total of 177,548 pregnancies and 124,846 live births. About 7% (96/1,324) were MCAs. Although most maternal/neonatal outcomes between the isolated cases group and the MCAs group were similar, higher early neonatal death rate was observed in the MCAs group than in the isolated cases group (9.8% versus 3.7%, resp.). Regarding the major organ system subcategory in ICD-10, the rate of MCAs was around 30% in “congenital malformations of eye, ear, face, and neck,” “congenital malformations of the respiratory system,” and “congenital malformations of genital organs.” On the other hand, the rate of MCAs was less than 10% in “congenital malformations of the circulatory system.” The combination patterns of diseases were widely varied. Of them, two or three diseases of the circulatory system, the digestive system, and the musculoskeletal system tended to co-occur in the same individuals.