RESUMO
OBJECTIVES: To evaluate the hearing benefit, advantages, and disadvantages in a series of children using a new, nonimplantable, pressure-free, adhesive bone conduction hearing aid. METHODS: Seventeen children were included in the study. 5 children suffered from bilateral conductive hearing loss (CHL), 6 children with unilateral CHL and 6 children with unilateral sensorineural hearing loss. An audiological tests were provide. Additionally, sound quality (SSQ10) and quality of life (AQoL-6D) were assessed using questionnaires. RESULTS: The average value of speech audiometry with bubble noise in children with SNHL is 21.33 (±5.72) dB HL with the device and 27.67 (±4.59) dB HL without the device, which is a statistically significant gain (pâ¯=â¯0.027). The analysis showed the average value of hearing threshold in sound field in the group of children with CHL supported 20.23 (±16.84) dB HL and not supported 33.52 (±27.27) by the hearing aid for bone conduction, which i a statistically significant gain (pâ¯=â¯0.008). The average value of speech audiometry is 23.45 (±14.45) dB HL with the device and 37.27 (±26.65) dB HL without the device, which is a statistically significant gain (pâ¯=â¯0.012). The average value of speech audiometry with bubble noise is 30.55 (±10.03) dB HL with the device and 45.45 (±18.41) dB HL without the device, which is a statistically significant gain (pâ¯=â¯0.008). No patient referred pain or irritation. CONCLUSION: This new device for bone conduction show a hearing benefit for a paediatric patient, without any concomitant aesthetic and other complications.
Assuntos
Condução Óssea , Auxiliares de Audição , Perda Auditiva Condutiva/reabilitação , Perda Auditiva Neurossensorial/reabilitação , Percepção da Fala , Adesivos , Adolescente , Audiometria da Fala , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Projetos Piloto , Qualidade de Vida , Inquéritos e QuestionáriosRESUMO
AIMS: Immunohistochemical analysis of retraction pocket pars tensa of tympanic membrane in children. Identification of signs typical for cholesteatoma and support of retraction theory of cholesteatoma. STUDY DESIGN: a prospective study analysing 31 surgically removed retraction pockets. DEPARTMENT: University Hospital, Children's Medical Centre Methods: Retraction pockets processed by a standard process for immunohistochemical analysis. The observed findings were specified using antibodies CD45 LCA (leukocyte common antigen), CD31 (platelet endothelial cell adhesion molecule), D2-40 (marker of lymphatic endothelium), MMP9 (marker of degradation of connective tissue extracellular matrix) and Ki67 (cellular marker of proliferation). RESULTS: All observed parameters except for MMP9 had a significantly higher incidence in retraction pocket stage III compared to stage II according to Charachon. CONCLUSION: We described immunohistochemical signs of retraction pocket pars tensa of tympanic membrane in children resulting in cholesteatoma. All the observed signs occur in the structure of matrix and perimatrix of cholesteatoma. A significantly higher incidence of all observed parameters except from MMP9 was proved in retraction pocket stage III, unlike in stage II. This observation proves the fact that retraction pocket is a progressive disease and is a procholesteatoma stage.
Assuntos
Colesteatoma da Orelha Média/metabolismo , Antígeno Ki-67/metabolismo , Antígenos Comuns de Leucócito/metabolismo , Metaloproteinase 9 da Matriz/metabolismo , Molécula-1 de Adesão Celular Endotelial a Plaquetas/metabolismo , Membrana Timpânica/metabolismo , Biomarcadores/metabolismo , Criança , Humanos , Imuno-Histoquímica , Estudos ProspectivosRESUMO
INTRODUCTION: Human papillomavirus (HPV) causes juvenile-onset recurrent respiratory papillomatosis (JORRP). Although HPV is common in children, the prevalence of JORRP is low. It is likely that other factors contribute to the pathogenesis of JORRP, during either activation or reactivation of a latent HPV infection. There is evidence that laryngopharyngeal reflux (LPR) might be such a risk factor for adult-onset recurrent respiratory papillomatosis. This study investigated if LPR might also be a risk factor for JORRP. MATERIALS AND METHODS: Children with JORRP of the larynx that required microlaryngoscopy at a tertiary referral hospital were included in this prospective case-series study from November 2015 to November 2017. Using immunohistochemistry, HPV infection and pepsin associated with LPR were diagnosed from laryngeal biopsies. RESULTS: Eleven children (aged 4-14 years) were analyzed. No patient had a history of immunodeficiency or tobacco smoke exposure. All patients underwent at least three previous surgeries due to JORRP and had been vaccinated against HPV in the past. Five children were treated using antivirotics and immunomodulators. The only known maternal risk factor was that three mothers were primiparous. All 11 samples were infected with HPV (type 6 or 11). Pathologic LPR was diagnosed in 5/11 children (45.5%). CONCLUSION: LPR may be a risk factor for JORRP, contributing to its development by activating or reactivating a latent HPV infection. Results are in accordance with those from our previous study in adults.
Assuntos
Hipofaringe/fisiopatologia , Refluxo Laringofaríngeo/fisiopatologia , Infecções por Papillomavirus/fisiopatologia , Infecções Respiratórias/fisiopatologia , Adolescente , Adulto , Biópsia , Criança , Pré-Escolar , Feminino , Humanos , Hipofaringe/virologia , Refluxo Laringofaríngeo/virologia , Masculino , Papillomaviridae/patogenicidade , Infecções por Papillomavirus/virologia , Infecções Respiratórias/virologia , Fatores de RiscoRESUMO
The article presents the most frequent type of chronic middle ear inflammation in children and the middle ear surgery. Middle ear reconstructions in childhood represent a complex issue. Their aim is to remove the pathological process in the middle ear and subsequently to restore the transfer function of the middle ear. Autologous and biocompatible materials can be used for reconstruction. Hearing gain is essential, especially in childhood, for the patient's further life. Good hearing in childhood is key for proper development of speech and learning. The quality of life, mental and language skills and children's development are thus positively influenced by the operation. Even in childhood, these operations can achieve good results, both anatomical and functional.
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Otite Média com Derrame , Otite Média , Criança , Desenvolvimento Infantil , Doença Crônica , Humanos , Qualidade de Vida , TimpanoplastiaRESUMO
Myringotomy is a surgical incision of tympanic membrane used mainly as therapy for acute otitis media. It is a safe and simple procedure; however possible complications must be considered. In this article is described a case study of a 2-and-a-half-year-old girl with a massive oto-liquorrhea following myringotomy.
Assuntos
Ventilação da Orelha Média/efeitos adversos , Otite Média com Derrame/cirurgia , Complicações Pós-Operatórias/etiologia , Pré-Escolar , Feminino , Humanos , Ventilação da Orelha Média/métodos , Tomografia Computadorizada por Raios X , Membrana Timpânica/cirurgiaRESUMO
To describe a rare case of Potts' puffy tumor (PPT) in the zygomatic area, which developed as a complication of acute otitis media in a 6-year-old child. To date, only one case of PPT has been described in the literature as a complication of latent mastoiditis in an adult, and one case of PPT as a complication of acute mastoiditis in a 10-year-old child. Urgent surgical intervention, including evacuation of the purulent lesion, removal of inflamed soft tissue and osteolysis of the involved bone, and antromastoidectomy, intravenous treatment with broad-spectrum antibiotics, including G+, G-, anaerobes and fungi, and local therapy.
Assuntos
Otite Média/complicações , Tumor de Pott/etiologia , Doença Aguda , Antibacterianos/uso terapêutico , Criança , Humanos , Masculino , Otite Média/tratamento farmacológico , Tumor de Pott/tratamento farmacológico , Tumor de Pott/cirurgiaRESUMO
INTRODUCTION: Optic nerve compression is an uncommon disorder leading to deterioration or complete loss of vision. CASE PRESENTATION: We describe the case of a 14-year-old Caucasian girl with a gradual deterioration of vision in her right eye. Using modern imaging techniques and endonasal endoscopic surgery, we identified the cause and removed the pathology. CONCLUSIONS: The cause of optic nerve compression was a rare exostosis in the optic canal. An endonasal endoscopic approach is the optimal choice for management of optic nerve pathologies. It is a gentle and minimally invasive surgical technique. Interdisciplinary cooperation, especially with the eye doctor and radiologist, is required in these cases.
Assuntos
Exostose/complicações , Doenças do Nervo Óptico/etiologia , Adolescente , Exostose/diagnóstico , Exostose/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Nervo Óptico/diagnóstico por imagem , Nervo Óptico/patologia , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/cirurgia , Tomografia Computadorizada por Raios XRESUMO
RATIONALE AND AIM: Foreign body (FB) injuries are a relatively frequent event in young children. Clinical picture can be evidently affected from different variables. Among those size, shape, type and FB location cover an important issue. Increased attempts have been made in order to encourage normative interventions for products devoted to children's care and entertainment, reaching acceptable safety level; on the contrary, fewer efforts have been devoted to investigate the risk associated to objects that--even if not expressly created for children--are easy accessed by children, like stationery. The aim of the present study is to characterize the risk of complications and prolonged hospitalization due to stationery items according to age and gender of patients, FB characteristics and FB location, circumstances of the accident, as emerging from the Susy Safe Registry. METHODS: From 2005 to 2010 case were collected from 70 centers in 32 different countries. Details on the injuries, identified by means of the International Classification of Diseases, Ninth Revision (ICD-9) codes listed on hospital discharge records, were gathered through a standardized case report form, that provides a full set of information on injuries, with specific details on age and gender of the child, location, shape, volume, consistency and ellipticity of the foreign body, behavioral aspects linked to the injury, like the supervision of the parents or the activity concomitant to the accident, any complication occurred, length of hospitalization. RESULTS: In the years 2005-2010 a total of 17,205 FB injuries in children aged 0-14 years were registered in Susy Safe Database. Among them 425 (2.5%) were due to a stationery item. The majority of FBs were retrieved in the nose (179, meaning 42.1%) and in the ears (176, 41.4%) only 5 cases were observed in children younger than 1 year, while most of the cases, 80.6%, were recorded in children older than 3 years. 193 patients (45.4%) were female, while 232 (54.6%) were male. Adult supervision was indicated in 212 cases. In 143 of these accidents the adult was present (33.6% of the whole group). The most frequent stationery retrieved was rubber, counting for 209 cases (49.2%). According to the FBs types, mostly all cases reported a 3D volume and a rigid or semirigid consistency (49.3%). Looking to the outcomes, 31 (7%) children needed hospitalization and complications were seen in 38 children (8.9%). No significant associations were seen between the outcomes and the FBs' characteristics, excluded those between the consistency of the FB (rigid) and the necessity of hospitalization and the shape (2D) and the presence of complication. CONCLUSIONS: Injuries are events that in many cases can be prevented with appropriate strategies. Passive environmental strategies, including product modification by manufacturers, are the most effective. However, regulation regarding small parts of potentially dangerous objects covers products addressed to children use but objects not projected for children, such as stationary items, are excluded. Our study testifies that stationary is involved in a non-negligible percentage of FB injuries, mainly due to insertion in the ears. Frequently, injuries happen under adult supervision. These results confirm the fact that when passive preventive strategies are not practical, active strategies that promote behavior change are necessary and information about this issue should be included in all visits to family pediatricians.
Assuntos
Corpos Estranhos/epidemiologia , Trato Gastrointestinal/lesões , Hospitalização/estatística & dados numéricos , Sistema Respiratório/lesões , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Corpos Estranhos/complicações , Humanos , Lactente , Recém-Nascido , Classificação Internacional de Doenças , Masculino , Sistema de RegistrosRESUMO
Foreign body (FB) inhalation, aspiration or ingestion are relatively common events in children. Despite many efforts made in several countries to achieve acceptable safety levels for consumer products devoted to children, small toys or toy parts are still frequently mentioned among risky foreign bodies. The aim of the present study is to characterize the risk of complications and prolonged hospitalization due to toys inhalation, aspiration or ingestion according to age and gender of patients, FB characteristics, circumstances of the accident, as emerging from the Susy Safe Registry. The Susy Safe Registry started in the 2005 to collect data to serve as a basis for a knowledge-based consumer protection activity. It is actually one of the wider databases collecting foreign body injuries in the upper aero-digestive tract in pediatric patients. It is distinguished by a deep characterization of objects which caused the injuries and a multi-step quality control procedure which assures its reliability. Preventive strategies imposing a regulation of industrial production, even if fundamental, are not sufficient and need to be integrated along with other intervention addressed to make aware caregivers toward a proper surveillance of children.
Assuntos
Corpos Estranhos/complicações , Trato Gastrointestinal , Hospitalização/estatística & dados numéricos , Jogos e Brinquedos/lesões , Sistema Respiratório , Adolescente , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Corpos Estranhos/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Sistema de Registros , Aspiração Respiratória , RiscoRESUMO
RATIONALE AND AIM: The aim of the present study is to acquire a better understanding of Non Food Foreign Bodies (NFFB) injuries in children with particular regard to the quantification of the risk of complications and hospitalization associated with patient characteristics, FB features, FB location and circumstances of the accident, as emerging from the SUSY Safe Web-Registry. METHODS: The present study uses data provided by the SUSY Safe Project, a DG SANCO co-funded project which was aimed to collect as many scientific data as possible regarding Foreign Bodies (FB) injuries in children aged 0-14 years and to serve as a basis for a knowledge-based consumer protection activity in the Europe market. FBs were characterized by size, shape and consistency. Descriptive statistics (absolute and relative number or median, I and III quartile according to the categorical or continuous variable, respectively) were calculated for each considered non food item characteristics; FB features distribution by children class age and site of obstruction were assessed. Two different outcomes were considered: hospitalization and complication. FBs which most frequently cause complications were identified. The association between children age, adult presence, object characteristics and outcomes was computed using crude odds ratios and the related 95% confidence intervals. RESULTS: 16,878 FB injuries in children aged 0-14 yrs have been recorded in the Susy Safe databases. FB type was specified in 10,564 cases; among them 7820 (74%) were due to a non food item. Almost two thirds of injuries occurred in patients 3 years or more old. 53% of patients were males, while 47% were females. When injury happened, the great part of children (86%) was playing. Almost 30% (2339) of injuries happened under adults' supervision. Complications occurred in 299 cases and the most documented was infections (10% of cases) followed by perforation (5%). CONCLUSIONS: The inhalation/aspiration of a FB, as well as the ingestion and the insertion in the orifices of a FB may result in significant morbidity. Particularly, long-standing or hazardous foreign bodies can cause extensive damage. Some objects, because of their composition, contour, or location, are particularly hazardous: for instance, objects with sharp edges pose a significant risk of laceration and perforation, while fragments of toys have been found only in 2 cases. Parents are frequently unconscious of hazard related with some objects and they are not adequately able to promptly recognize dangerous objects and risky situations. Moreover, also clinicians seem to pay little attention to adult role in the dynamic of the accident: in fact in case series descriptions, data regarding adult presence are often under-reported. On the contrary, since many injuries to children cannot be prevented without some degree of active behavior on the part of parents, the dissemination of information regarding safe behaviors and the implementation of educational strategies aiming to improve parent's attention toward this issue could be fundamental in preventing injuries and need to be promoted by family pediatricians and health practitioners.
Assuntos
Corpos Estranhos/epidemiologia , Hospitalização/estatística & dados numéricos , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Sistema de Registros , Distribuição por SexoRESUMO
MicroRNAs (miRNAs) are short, non-coding RNAs, which function as evolutionary conserved regulators of a gene expression. They have essential roles in development, cell differentiation, proliferation, apoptosis and chromosome structure. MiRNAs constitute about 3-5% of predicted genes in the human genome (i.e. about 1000); and 20-30% of the protein-coding genes are estimated to be regulated by the miRNAs. The primary evidence that miRNAs possibly act as a novel class of oncogenes/tumor-suppressors comes from the discovery of the miR-15a and miR-16-1 in 13q14 region deleted in chronic lymphocytic leukemia (CLL). Moreover, miRNA signatures have been used to classify tumor types. There have recently been several reports on the miRNAs role in CLL pathogenesis and disease subtypes (according to IgV(H) mutation status). In this report, we will review the published observations and present our miRNA profiling data in aggressive CLL with TP53 abnormalities (deletion and/or mutation of p53 gene). We have identified a deregulated miRNA expression pattern (down regulation of miR-34a, miR-29 and miR-17-5p) in these samples, compared to cells with wild-type TP53. It has previously been shown that miR-34a is directly regulated by p53 and targets BCL-2, miR-29c regulates the MCL-1 and TCL-1 proto-oncogenes and the miR-17-5p targets important cell cycle regulatory molecules. Consequently, these three miRNAs could potentially play important roles in the pathogenesis of aggressive CLL.
Assuntos
Regulação Neoplásica da Expressão Gênica , Leucemia Linfocítica Crônica de Células B/genética , MicroRNAs/genética , Proteína Supressora de Tumor p53/genética , Regulação para Baixo , Humanos , Leucemia Linfocítica Crônica de Células B/etiologia , MutaçãoRESUMO
OBJECTIVE: Based on long-term results, to evaluate the safety and efficacy of 1-day surgery in pediatric otolaryngology. METHODS: Clinical records in our surgical day care unit during 10 years of its operation were retrospectively evaluated. RESULTS: From 12,331 children treated on day care unit, for 356 children (2.9%) it was necessary to stay in hospital overnight due to complications. CONCLUSIONS: Based on our results, 1-day surgery is safe and effective and has several advantages including patients' satisfaction, a short hospital stay and therefore cost reduction and shorter waiting time for elective surgery.
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Procedimentos Cirúrgicos Ambulatórios/estatística & dados numéricos , Procedimentos Cirúrgicos Otorrinolaringológicos/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , República Tcheca , Humanos , Tempo de Internação , Complicações Pós-Operatórias , Estudos RetrospectivosRESUMO
We retrospectively evaluated a set of 205 children with autism and compared it to the partial sub-set of 71 (34.6%) children with a history of regression. From 71 children with regression, signs of epileptic processes were present in 43 (60.6%), 28 (65.12%) suffered clinical epileptic seizures, and 15 (34.9%) just had an epileptiform abnormality on the EEG. In our analysis, autistic regression is substantially more associated with epileptic process symptoms than in children with autism and no history of regression. More than 90% of children with a history of regression also show IQ < 70 and reduced functionality. Functionality and IQ further worsens with the occurrence of epileptic seizures (98% of children with regression and epilepsy have IQ < 70). We proved that low IQ and reduced functionality significantly correlate rather with epileptic seizures than just sub-clinical epileptiform abnormality on EEG. Clinical epileptic seizures associated with regression significantly influence the age of regression and its clinical type. The age of regression is higher compared to children with regression without epileptic seizures (in median: 35 months of age in patients with seizures while only 24 months in other patients). Patients with seizures revealed regression after 24th months of age in 68% of cases, while patients without seizures only in 27%. However, coincidence with epilepsy also increased the occurrence of regression before the 18th month of age (23% of patients), while only 4% of patients without epilepsy revealed regression before the 18th month. Epileptic seizures are significantly associated especially with behaviour regression rather than speech regression or regression in both behaviour and speech. Also epileptic seizures diagnosed before correct diagnosis of autism were significantly associated with delayed regression (both behavioural and speech regression).
Assuntos
Transtorno Autístico/fisiopatologia , Epilepsia/fisiopatologia , Adolescente , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/complicações , Feminino , Humanos , Deficiência Intelectual/etiologia , Inteligência , Masculino , Estudos RetrospectivosRESUMO
OBJECTIVE: To evaluate the potential of nasal isotonic saline application to prevent reappearance of cold and flu in children during the winter. DESIGN: Prospective, multicenter, parallel-group, open, and randomized comparison. SETTING: Eight pediatric outpatient clinics. PATIENTS: A total of 401 children (aged 6-10 years) with uncomplicated cold or flu. INTERVENTIONS: We randomly assigned patients to 2 treatment groups, one with just standard medication, the other with nasal wash with a modified seawater solution (Physiomer) plus standard medication, and observed them for 12 weeks. MAIN OUTCOME MEASURES: The primary efficacy end points were nasal symptoms resolution during acute illness (visits 1 and 2). We also looked for reappearance of cold or flu, consumption of medication, complications, days off school, and reported days of illness during the following weeks when preventive potential was evaluated (visits 3 and 4). RESULTS: At visit 2, patients in the saline group achieved primary end points (measured on a 4-point numeric scale on which 1 indicated no symptoms and 4, severe symptoms) in the parameters nasal secretion and obstruction (mean scores vs nonsaline group, 1.79 vs 2.10 and 1.25 vs 1.58, respectively) (P < .05 for both). During the prevention phase (at visit 3, 8 weeks after study entry) patients in the saline group showed significantly lower scores in sore throat, cough, nasal obstruction, and secretion (P < .05 for all). By visit 3, significantly fewer children in the saline group were using antipyretics (9% vs 33%), nasal decongestants (5% vs 47%), mucolytics (10% vs 37%), and systemic antiinfectives (6% vs 21%) (P < .05 for all). During the same period children in the saline group also reported significantly fewer illness days (31% vs 75%), school absences (17% vs 35%), and complications (8% vs 32%) (P < .05 for all). Similar results were found at the final visit. CONCLUSION: Children in the saline group showed faster resolution of some nasal symptoms during acute illness and less frequent reappearance of rhinitis subsequently.
Assuntos
Soluções Isotônicas/administração & dosagem , Rinite/tratamento farmacológico , Rinite/prevenção & controle , Cloreto de Sódio/administração & dosagem , Administração Intranasal , Análise de Variância , Distribuição de Qui-Quadrado , Criança , Feminino , Humanos , Masculino , Estudos Prospectivos , Estatísticas não Paramétricas , Resultado do TratamentoRESUMO
AIM: We designed this study to assess the effect of breastfeeding and its duration on acute otitis media (AOM) in children of our geographical region. Our main aim was to determine the period of breastfeeding, necessary to achieve optimal preventive results against AOM. METHODS: The children that, according to the questionnaire, had suffered AOM infections in the past were used as the study group with the rest of the children used as control. The duration of breastfeeding was divided into months and the odds ratios for the occurrence of AOM were calculated for the children breastfed for more than or equal to a certain period, compared to the children breastfed for less than that period. This was repeated for each month separately and the results plotted on a graph of the confidence interval (CI) for the odds ratio values, against months of breastfeeding. RESULTS: The results of our study show that breastfeeding for a period of up to 11 months can play a significant preventive role against AOM (odds ratio and lower 90% CI > 1). Breastfeeding for longer periods of time is also beneficial, with breastfeeding up to 18 months being associated with some preventive effect against the disease (odds ratio > 1), but the reduction in the incidence of AOM is not statistically significant after the 11th month. Furthermore, there are marked differences in the importance of breastfeeding during the first 11 months, with a vital protective effect during the first 4 months of life which, however, drops by the 5th month and then rises again from the beginning of the 6th to the end of the 8th month. The protective effect then drops once more, although it remains positive and statistically significant until the 11th month of life and positive, but not statistically significant, until the 18th. CONCLUSION: Our study has revealed that for an optimal preventive effect to be achieved, the child should be breastfed for at least the first 11 months of its life. Continuing after this for up to the 18th month shows some preventive effect, which however is not statistically significant. Our results support the hypothesis that the importance of breastfeeding varies with the development of the child, its changing environment and to the new immunological challenges this brings.
Assuntos
Aleitamento Materno , Otite Média/epidemiologia , Doença Aguda , Estudos de Casos e Controles , República Tcheca/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Razão de Chances , Otite Média/prevenção & controle , Fatores de TempoRESUMO
OBJECTIVE: 18q deletion syndrome is a multiple-anomaly mental retardation syndrome associated with congenital aural atresia. The purpose of this study was to determine the frequency of the congenital aural atresia phenotype in 18q deletion syndrome patients and to delineate a potential critical region for congenital aural atresia at the 18q22.3-18q23 region. STUDY DESIGN AND PATIENTS: The study describes one 18q deletion syndrome clinical report (Patient 15) with an overview of 19 other selected 18q deletion syndrome patients presenting congenital aural atresia from 18 published articles and one presented poster on 18q deletion syndrome. RESULTS: Our investigation, together with the results of published 18q deletion syndrome reports, shows that the average frequency of congenital aural atresia is approximately 52%. A combination of three 18q deletion syndrome probands defines a chromosomal deletion site for congenital aural atresia at 18q22.3-18q23 in the region between markers D18S489 and D18S554. These polymorphic markers outline a putative critical interval of approximately 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1. The haploinsufficiency of these genes is suggested to be a primary cause of congenital aural atresia phenotype in 18q deletion syndrome individuals. CONCLUSION: Congenital aural atresia is a relevant diagnostic clue and a major recognizable feature of 18q deletion syndrome. Early diagnosis of 18q deletion syndrome may enable application of hearing aids. Knockout studies on the congenital aural atresia mouse gene homolog may add further insight into the genes responsible for this condition.