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Sample records for congenital ear anomalies

  1. Temporal bone CT analysis of congenital ear anomalies

    International Nuclear Information System (INIS)

    Hwang, Jung Won; Moon, Min Joo; Sung, Kyu Bo

    1988-01-01

    Authors analysed the CT findings of the congenital ear anomalies of twenty-nine patients for 2 years and 3 months. The results were as follows: 1. Most of the patients were under the age of 20 (82.7%) and prevalent in male (72.4%). 2. Clinically, congenital ear anomalies were detected in 20 patients (68.9%), conductive hearing loss in 4, sensorineural hearing loss in 1, and the remained 4 patients were detected incidentally without clinical symptom. 3. In the cases of unilateral involvement of 20 patients, right ear was more common (12/20). Eight of 9 bilateral involvement showed similar degree. 4. The middle ear malformations were found in 22 patients (75.9%) and bilateral in 4 patients. 26 cases of middle ear malformations had been classified by Frey into 4 groups; Group I in 5, Group II in 9, Graoup III in 9 and Group IV in 3. 5. Incidentally found ear anomaly was lateral semicircular canal formed a single cavity with the vestibule in all patients (5 pts.). 6. Inner ear malformations accompanying sensorineural hearing loss were found in 3 patients with bilateral involvement and middle ear malformations were accompanied in 2 patients. The degree of involvement of labyrinth was variable.

  2. Inner ear anomalies in children with isolated unilateral congenital aural atresia.

    Science.gov (United States)

    Halle, Tyler R; Soares, Bruno P; Todd, N Wendell

    2017-04-01

    We aim to define the frequencies of anomalies of the inner ear, oval window, and round window ipsilateral to isolated non-syndromic unilateral aural atresia. Retrospective case series. We reviewed high resolution computed tomography scans of the temporal bones of 70 children with isolated non-syndromic unilateral congenital aural atresia. Scans were reviewed according to the Jahrsdoerfer criteria and further evaluated for anomalies of the vestibule, semi-circular canals, cochlea, internal auditory canal and vestibulocochlear nerve. Inner ear dysplasia was seen in two of 70 atretic ears: one with a dysmorphic lateral semicircular canal and another with a large vestibule assimilating the lateral semicircular canal. Abnormalities of the oval window and round window ipsilateral to the atresia were identified in 21% (15) and 7% (5), respectively, of the atretic ears. Oval window and round window abnormalities were associated with disproportionately lower Jahrsdoerfer scores compared to aural atresia patients without these abnormalities (P atresia cases, we found inner ear and oval window abnormalities less common in children with isolated non-syndromic unilateral aural atresia. However, round window anomalies seem to occur at about the same frequency. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Inner ear anomalies causing congenital sensorineural hearing loss: CT and MR imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Hyun Sook; Paik, Sang Hyun; Cha, Jang Gyu; Park, Seong Jin; Joh, Joon Hee; Park, Jai Soung; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Buchon(Korea, Republic of)

    2005-07-15

    Many congenital dysplasias of the osseous labyrinth have been identified, and the differential diagnosis of these dysplasias is essential for delivering proper patient management. We retrospectively reviewed the computed tomography (CT) and magnetic resonance (MR) imaging findings of 20 children who had congenital sensorineural hearing loss. The children included cases of enlarged vestibular aqueduct and endolymphatic sac (n=8), aplasia of the semicircular canal (n=4), lateral semicircular canal-vestibule dysplasia (n=3), common cavity malformations with a large vestibule (n=1), cochlear hypoplasia (n=1), Mondini's dysplasia with large vestibular aqueduct (n=1), Mondini's dysplasia with a large vestibule (n=1), and small internal auditory canal (n=1). Six cases were unilateral. Nine cases had combined deformities, and nine cased had cochlear implants. CT was performed with a 1.0-mm thickness in the direct coronal and axial sections with using bone algorithms. MR was performed with a temporal 3D T2 FSE 10-mm scan and with routine brain images. We describe here the imaging features for the anomalies of the inner ear in patients suffering from congenital sensorineural hearing loss.

  4. Inner ear anomalies causing congenital sensorineural hearing loss: CT and MR imaging findings

    International Nuclear Information System (INIS)

    Hong, Hyun Sook; Paik, Sang Hyun; Cha, Jang Gyu; Park, Seong Jin; Joh, Joon Hee; Park, Jai Soung; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan

    2005-01-01

    Many congenital dysplasias of the osseous labyrinth have been identified, and the differential diagnosis of these dysplasias is essential for delivering proper patient management. We retrospectively reviewed the computed tomography (CT) and magnetic resonance (MR) imaging findings of 20 children who had congenital sensorineural hearing loss. The children included cases of enlarged vestibular aqueduct and endolymphatic sac (n=8), aplasia of the semicircular canal (n=4), lateral semicircular canal-vestibule dysplasia (n=3), common cavity malformations with a large vestibule (n=1), cochlear hypoplasia (n=1), Mondini's dysplasia with large vestibular aqueduct (n=1), Mondini's dysplasia with a large vestibule (n=1), and small internal auditory canal (n=1). Six cases were unilateral. Nine cases had combined deformities, and nine cased had cochlear implants. CT was performed with a 1.0-mm thickness in the direct coronal and axial sections with using bone algorithms. MR was performed with a temporal 3D T2 FSE 10-mm scan and with routine brain images. We describe here the imaging features for the anomalies of the inner ear in patients suffering from congenital sensorineural hearing loss

  5. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

    Torres Pazmino, Julio Cesar; Marrugo Pardo, Gilberto Eduardo

    2010-01-01

    Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

  6. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the ma...

  8. Helical CT of congenital ossicular anomalies

    International Nuclear Information System (INIS)

    Osada, Hisato; Machida, Kikuo; Honda, Norinari

    2001-01-01

    Since January 1996 to December 2000, 26 cases of congenital ossicular anomaly could be diagnosed with helical CT. All cases were unilateral. In 8 patients with malformation of the external ear, CT showed malleoincudal fixation (n=5), malleoincudal fixation and deformed incuts long process (n=1), deformed incus long process (n=1), and partial fusion of malleus neck and incus long process (n=1). In 18 patients with normal external ear, CT showed defect of the incus long process (n=5), defect of both the incus long process and stapes superstructure (n=8, 2 patients with congenital cholesteatoma, 1 with hypoplastic oval window), defect of the stapes superstructure (n=2, 1 patient with oval window absence), defect of the malleus manubrium (n=1), ossification of the stampede's tendon (n=1), and monopod stapes (n=1). Helical CT can evaluate the auditory ossicular chain in detail and is useful for diagnosing congenital ossicular anomaly. (author)

  9. Congenital Anomalies among Live Births

    OpenAIRE

    Vivian Rosa Vázquez Martínez; Cristobal Jorge Torres González; Alina Luisa Díaz Dueñas; Grisel Torres Vázquez; Dariel Diaz Díaz; Rafael de la Rosa López

    2014-01-01

    Background: congenital anomalies contribute significantly to mortality during early stages of life; they are the leading cause of infant death in developed countries.Objective: to determine the characteristics of congenital anomalies among live births. Methods: a descriptive study was conducted in the province of Cienfuegos in 2012. Thirty-seven women who had live-born neonates with congenital anomalies were studied. The variables analyzed were: parental age, skin color, order of birth, famil...

  10. Prevalence of inner ear anomalies among cochlear implant candidates.

    Science.gov (United States)

    Aldhafeeri, Ahmad M; Alsanosi, Abdulrahman A

    2016-10-01

    To determine the prevalence of inner ear anomalies and the frequency of different anomaly types among cochlear implant recipients. This study included a retrospective chart review of all patients who received cochlear implants between January 2009 and January 2013 in King Abdulaziz University Hospital cochlear implant program in Riyadh, Saudi Arabia. All subjects underwent thin-cut CT of the temporal bone and MRI. The collected data included age, gender, and CT and MRI findings regarding temporal bone anomalies. Patients with any identified congenital inner ear anomalies were included in the study.  In total, 316 patients' cases were reviewed. Inner ear malformations were identified in 24 patients, which represented a prevalence of 7.5%. Among these 24 patients, 8 (33.3%) presented with a large vestibular aqueduct (LVA), 8 (33.3%) semicircular canal (SCC) dysplasia, 7 (29.1%) classical Mondini deformity, and one (4.1%) cochlear hypoplasia. The prevalence of inner ear anomalies among cochlear implant recipients was 7.5%. This result is consistent with findings worldwide. The most common anomalies were LVA and SCC hypoplasia; by contrast, in other regions, the most common anomaly is either the Mondini deformity, or LVA.

  11. Imaging of congenital anomalies of the temporal bone.

    Science.gov (United States)

    Benton, C; Bellet, P S

    2000-02-01

    This article briefly presents the embryology of the ear and discusses the external auditory canal and middle ear, including first branchial cleft anomalies, external auditory canal atresia and stenoses, congenital cholesteatoma, and congenital teratoma. Topics related to the labyrinths include aplasia, the common-chamber anomaly, the pseudo-Mondini and Mondini malformations, semicircular canal dysplasia, and the large vestibular aqueduct. Vascular malformations and variations also are presented, including the absent and aberrant internal carotid artery, the persistent stapedial artery, and high jugular bulb; cerebrospinal fluid and perilymph fistulas are the subjects of the final section.

  12. Congenital ossicular malformation. A study of 27 ears

    International Nuclear Information System (INIS)

    Morioka, Shigefumi; Sakaguchi, Hirofumi; Taki, Masakatsu; Hyogo, Misako; Suzuki, Toshihiro; Hisa, Yasuo

    2010-01-01

    Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

  13. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  14. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies...... anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48...

  15. [HRCT imaging characterized of congenital abnormalities of the inner ear in 45 cases].

    Science.gov (United States)

    Wang, Jinling; Meng, Meijuan; Huan, Yi; Zhang, Jinsong

    2003-10-01

    To explore the high resolution CT (HRCT) image characterized of congenital abnormalities of the inner ear(CAIE), and its value in the diagnosis and treatment of CAIE. The clinic data and axial HRCT scans of CAIE in 45 cases were analyzed. In 45 CAIE patients, most of them were frequently associated with slowly progressive sensorineural hearing loss in childhood, 15 ears were fluctuating hearing loss. Seventeen ears were unilateral semicircular canal paralysis. HRCT showed that Michel type 3 cases(4 ears), Mondini type 25 cases(39 ears). Large vestibular aqueduct malformation not associated with anomalies of inner ears 13 cases(23 ears), anomalies of internal auditory canal 4 cases (5 ears). Thirteen ears were associated with outer and middle ear malformation. HRCT image has the important value in the diagnosis and treatment of CAIE, especially for the excerpt of indication of cochlear implantation.

  16. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude

    2014-01-01

    seasonality of 65,764 nonchromosomal and 12,682 chromosomal congenital anomalies covering 3.3 million births. Analysis was performed by estimated month of conception. Analyses were performed for 86 congenital anomaly subgroups, including a combined subgroup of congenital anomalies previously associated......%), congenital hydronephrosis (July, 12%), urinary defects (July, 5%), and situs inversus (December, 36%), but not for nonchromosomal anomalies combined, chromosomal anomalies combined, or other anomalies analyzed. CONCLUSION: We have confirmed previously described seasonality for congenital cataract and hip......BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation...

  17. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

    2014-01-01

    congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant......INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  18. Monitoring of congenital anomalies in Latvia.

    Science.gov (United States)

    Irisa Zilie; ViIIeruša, Anita; Gissler, Mika

    2014-09-01

    This study provides a description and analysis of characteristics of the monitoring system for congenital anomalies at birth and prevalence trends in Latvia using retrospective analysis of congenital anomalies at birth with cross-sectional data on prevalence (national data from Latvia, 2000-2010). There are three main monitoring systems on congenital anomalies among newborns and infants: the Medical Birth Register with data on live births with one or more congenital anomalies at birth, the Register on Congenital Anomalies with genetically approved cases for live births and the National Causes of Death Register with data on stillbirths. Methodological problems were analysed by calculating different prevalence rates. The main outcome measures are as follows: prevalence rate, live birth prevalence rate, major congenital anomalies live birth prevalence rate, and stillbirth rate. The live birth period prevalence was 319.7/10,000 live births, and the majoir congenital anomalies live birth prevalence was 211.4/10,000. The period total prevalence rate of births was.323.7/10,000 live births and stillbirths. The stillbirth rate due to congenital anomalies was 6.1/10,000 live and stillbirths. The live birth prevalence with congenital anomalies decreased slightly from the year 2000 tothe year 2010. The present system of congenital anomaly registration requires improvements for better completeness. Latvia should use the experience.of Nordic countries and introduce a mother's and children's identification number to the Medical Birth Register. It would be helpful to link the information from hospitals and perinatal centres together to validate the congenital anomaly diagnoses of newborns after their discharge from the maternity unit. The monitoring system should also include information on pregnancies with congenital anomalies which do not end in birth, especially terminations of pregnancy.

  19. Infective causes of congenital anomalies

    OpenAIRE

    Garcia, Aparecida Gomes Pinto

    1981-01-01

    Revisão sumária das causas infecciosas das anomalias congênitas englobando as malformações, que correspondem a estruturas anormais orgânicas ou tissulares decorrentes de erros primários de morfogenese embrionaria e deformações, que se instalam no período fetal da vida intrauterina, correspondentes a alterações de forma e estrutura de órgãos primitivamente bem constituidos.Review of the infective causes of Congenital Anomalies, including Malformations, which arise during the embryonic period a...

  20. Radiologic analysis of congenital limb anomalies

    International Nuclear Information System (INIS)

    Chung, Hong Jun; Kim, Ok Hwa; Shinn, Kyung Sub; Kim, Nam Ae

    1994-01-01

    Congenital limb anomalies are manifested in various degree of severity and complexity bearing conclusion for description and nomenclature of each anomaly. We retrospectively analyzed the roentgenograms of congenital limb anomalies for the purpose of further understanding of the radiologic manifestations based on the embryonal defect and also to find the incidence of each anomaly. Total number of the patients was 89 with 137 anomalies. Recently the uniform system of classification for congenital anomalies of the upper limb was adopted by International Federation of Societies for Surgery of the Hand (IFSSH), which were categorized as 7 classifications. We used the IFSSH classification with some modification as 5 classifications; failure of formation of parts, failure of differentiation of parts, duplications, overgrowth and undergrowth. The patients with upper limb anomalies were 65 out of 89(73%), lower limb were 21(24%), and both upper and lower limb anomalies were 3(4%). Failure of formation was seen in 18%, failure of differentiation 39%, duplications 39%, overgrowth 8%, and undergrowth in 12%. Thirty-five patients had more than one anomaly, and 14 patients had intergroup anomalies. The upper limb anomalies were more common than lower limb. Among the anomalies, failure of differentiation and duplications were the most common types of congenital limb anomalies. Patients with failure of formation, failure of differentiation, and undergrowth had intergroup association of anomalies, but duplication and overgrowth tended to be isolated anomalies

  1. Socio-occupational status and congenital anomalies

    DEFF Research Database (Denmark)

    Varela, María M Morales-Suárez; Nohr, Ellen Aagaard; Llopis-González, Agustin

    2009-01-01

    The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring.......The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring....

  2. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    Science.gov (United States)

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  3. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

    2014-01-01

    : diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

  4. Congenital sixth nerve palsy with associated anomalies

    Directory of Open Access Journals (Sweden)

    Nirupama Kasturi

    2017-01-01

    Full Text Available Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction.

  5. Congenital sixth nerve palsy with associated anomalies.

    Science.gov (United States)

    Kasturi, Nirupama

    2017-10-01

    Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction.

  6. Congenital basis of posterior fossa anomalies

    Science.gov (United States)

    Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

    2015-01-01

    The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

  7. Congenital anomalies of the neonatal head

    International Nuclear Information System (INIS)

    Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

    1987-01-01

    US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

  8. Congenital anomalies after assisted reproductive technology

    DEFF Research Database (Denmark)

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie

    2013-01-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment...... for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize...... the literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also...

  9. Multislice spiral computed tomography imaging in congenital inner ear malformations.

    Science.gov (United States)

    Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

    2008-01-01

    The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

  10. An exceptional combination of congenital coronary anomalies.

    Science.gov (United States)

    Kharrat, Ilyes; El-Fassy, Eric; Amabile, Nicolas

    2012-01-01

    We present a case of congenital coronary artery anomalies combining the absence of the circumflex artery, ectopic origins of left anterior descending and diagonal arteries and abnormal courses of these vessels. These rare anomalies were detected during an elective coronary angiography in a patient with stable angina that was related to significant stenosis of the posterolateral and middle right coronary artery. A computed tomography scanner with three-dimensional reconstructions confirmed the anatomy. Copyright © 2011 Wiley Periodicals, Inc.

  11. Drug safety in pregnancy - monitoring congenital anomalies

    NARCIS (Netherlands)

    Morgan, Margery; De Jong-Van Den Berg, Lolkje T. W.; Jordan, Sue

    Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored

  12. Congenital spine anomalies: the closed spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, Erin Simon [University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Perelman School of Medicine, Philadelphia, PA (United States); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Radiology, Genoa (Italy)

    2015-09-15

    The term congenital spinal anomalies encompasses a wide variety of dysmorphology that occurs during early development. Familiarity with current terminology and a practical, clinico-radiologic classification system allows the radiologist to have a more complete understanding of malformations of the spine and improves accuracy of diagnosis when these entities are encountered in practice. (orig.)

  13. MR imaging evaluation of congenital spine anomalies

    International Nuclear Information System (INIS)

    Bury, E.A.; Zimmerman, R.A.; Grossman, R.I.; Goldberg, H.I.; Bilaniuk, L.T.; Hackney, D.B.

    1987-01-01

    Over a 2-year period, 135 patients between the ages of 1 week and 18 years were examined with MR imaging for possible congenital anomalies of the spine and spinal cord. Tethered cords with various other associated pathologies such as lipomas and myelomeningoceles were found in 36 patients. The remaining abnormal examinations consisted of syrinxes, Chiari malformations, diastematomyelia, and conus masses. In 55 patients the studies were interpreted as normal. Of these, three were subsequently shown by surgery of myelography to be abnormal. The first had a thickened filum with a small epidermoid, the second a thickened filum, and the third, with only sagittal images, a diastematomyelia. Children presenting with symptoms highly suspicious for congenital abnormalities but with a normal MR study in multiple planes may still require further evaluation with myelography. Multiplanar MR examination in most instances will be a sufficient evaluation for congenital anomalies

  14. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    NARCIS (Netherlands)

    Garne, Ester; Loane, Maria; Dolk, Helen; Barisic, Ingeborg; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Gatt, Miriam; Melve, Kari Klyungsoyr; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellun-Dumoulin, Christine; Wiesel, Awi

    BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies.

  15. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen

    2012-01-01

    Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

  16. Bilateral implant-retained auricular prosthesis for a patient with congenitally missing ears. A clinical report.

    Science.gov (United States)

    Kumar, Preeti Satheesh; Satheesh Kumar, K S; Savadi, Ravindra C

    2012-06-01

    Microtia is a major congenital anomaly of the external ear. It includes a spectrum of deformities from a grossly normal but small ear to the absence of the entire external ear. These deformities account for three in every 10,000 births, with bilaterally missing ears seen in fewer than 10% of all cases. Congenital abnormalities of the ear are unlikely to result in the complete absence of the ears, but the patient presented in this article had bilateral congenitally missing ears. There was loss of anatomic landmarks and alteration of normal bony architecture. Minimal tissue was available for retention; therefore, conventional techniques could not be used for achieving retention. A two-implant-supported auricular prosthesis was planned, but the patient was found to have deficient bone in the implant site. Hence the implants were placed posterior to these sites, and the superstructure was modified to accommodate for this change in position of the implant to ensure the esthetic positioning of the prosthesis. © 2012 by the American College of Prosthodontists.

  17. Radiological evaluation congenital gastrointestinal tract anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Young Hee; Kim, Ock [Hanil Hospital, Seoul (Korea, Republic of); Jang, Jung Wha [Seoul Nationl Hospital, Seoul (Korea, Republic of)

    1983-06-15

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric

  18. Radiological evaluation congenital gastrointestinal tract anomalies

    International Nuclear Information System (INIS)

    Cho, Young Hee; Kim, Ock; Jang, Jung Wha

    1983-01-01

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric stenosis, delayed

  19. Congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    Koesling, S.; Omenzetter, M.; Bartel-Friedrich, S.

    2009-01-01

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

  20. Congenital malformations of the external and middle ear

    Energy Technology Data Exchange (ETDEWEB)

    Koesling, S. [University of Halle, Department of Diagnostic Radiology (Germany)], E-mail: sabrina.koesling@medizin.uni-halle.de; Omenzetter, M. [University of Halle, Department of Diagnostic Radiology (Germany); Bartel-Friedrich, S. [University of Halle, Department of Otorhinolaryngology - Head and Neck Surgery, Section of Phoniatrics and Pedaudiology (Germany)

    2009-02-15

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented.

  1. Congenital anomalies and proximity to landfill sites.

    LENUS (Irish Health Repository)

    Boyle, E

    2004-01-01

    The occurrence of congenital anomalies in proximity to municipal landfill sites in the Eastern Region (counties Dublin, Kildare, Wicklow) was examined by small area (district electoral division), distance and clustering tendancies in relation to 83 landfills, five of which were major sites. The study included 2136 cases of congenital anomaly, 37,487 births and 1423 controls between 1986 and 1990. For the more populous areas of the region 50% of the population lived within 2-3 km of a landfill and within 4-5 km for more rural areas. In the area-level analysis, the standardised prevalence ratios, empirical and full Bayesian modelling, and Kulldorff\\'s spatial scan statistic found no association between the residential area of cases and location of landfills. In the case control analysis, the mean distance of cases and controls from the nearest landfill was similar. The odds ratios of cases compared to controls for increasing distances from all landfills and major landfills showed no significant difference from the baseline value of 1. The kernel and K methods showed no tendency of cases to cluster in relationship to landfills. In conclusion, congenital anomalies were not found to occur more commonly in proximity to municipal landfills.

  2. CT diagnosis of congenital anomalies of the central nervous system

    International Nuclear Information System (INIS)

    Mori, Koreaki

    1980-01-01

    In the diagnosis of central nervous system congenital anomalies, understanding of embryology of the central nervous system and pathophysiology of each anomaly are essential. It is important for clinical approach to central nervous system congenital anomalies to evaluate the size of the head and tention of the anterior fontanelle. Accurate diagnosis of congenital anomalies depends on a correlation of CT findings to clinical pictures. Clinical diagnosis of congenital anomalies should include prediction of treatability and prognosis, in addition to recognition of a disease. (author)

  3. External ear anomalies and hearing impairment in Noonan Syndrome

    NARCIS (Netherlands)

    Trier, D.C. van; Nierop, J. van; Draaisma, J.M.T.; Burgt, I. van der; Kunst, H.P.; Croonen, E.A.; Admiraal, R.J.C.

    2015-01-01

    OBJECTIVE: This is the first cohort in which hearing impairment and external ear anomalies in Noonan Syndrome are described extensively. METHODS: Retrospective analysis of the otorhinolaryngological and clinical genetic data from 97 Noonan Syndrome (NS) patients. Forty-four NS patients were seen by

  4. Congenital inner ear malformations without sensorineural hearing loss.

    Science.gov (United States)

    Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

    2008-03-01

    It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

  5. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  6. Multislice CT of the auditory ossicles and ossicular ligaments. Delineation of normal anatomy and diagnosis of congenital anomaly

    International Nuclear Information System (INIS)

    Matsumoto, Shigeru; Tozaki, Hiromitu; Miyazaki, Hidemi

    2001-01-01

    By using four detector rows with 0.5 mm collimation, high resolution isotropic voxel data throughout the middle ear can be obtained with Multislice Helical CT (MSCT). The purpose of this study is to evaluate the usefulness of MSCT in demonstrating the auditory ossicles and ossicular ligaments and in the diagnosis of congenital ossicular anomalies. Thirty normal middle ears and 23 ear of 20 patients with suspicious congenital ossicular anomalies were examined. Axial images and multiplanar images were reconstructed. In the normal group, the images were evaluated based on scores for the visualization of the anatomical structure of the auditory ossicles and ossicular ligaments. In the group with anomalies, the findings suggesting ossicular anomalies were referenced and the prevalence was conjectured. Visualization of the auditory ossicles and ossicular ligaments was 98.3%-100% and 78.3%-100%, respectively. Congenital ossicular anomalies were detected in 20 ears (87.0%). MSCT is an accurate method for demonstrating minute and complicated 3D structures of the middle ear, and is found to be a technique of choice for diagnosis of ossicular anomalies. (author)

  7. Congenital anomalies in rural black South African neonates - a ...

    African Journals Online (AJOL)

    Congenital anomalies in rural black South African neonates - a silent epidemic? P. A. Venter, A. L. Christianson, C. M. Hutamo, M. P. Makhura, G. S. Gericke. Abstract. Study objective. To ascertain the incidence and spectrum of congenital anomalies in neonates born in a rural hospital. Design. This was a prospective, ...

  8. Medical imaging for congenital anomalies of the lung. Focused on tracheobronchial and parenchymal anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Kohda, Ehiichi; Shiraga, Nobuyuki; Higuchi, Mutsumi; Ishibashi, Ryouchi [Tachikawa Hospital, Tokyo (Japan)

    2003-02-01

    This is a review of medical imaging studies for congenital anomalies of the lung focused on tracheobronchial and parenchymal anomalies. It is important to know the findings of these developmental anomalies, because they are frequently manifested as infectious diseases or mass. Documented details are pulmonary agenesis, aplasia, pulmonary hypoplasia, tracheal agenesis, bridging bronchus, tracheal bronchus, congenital tracheal stenosis, bronchial atresia, bronchobiliary fistula, bronchogenic cyst, bronchopulmonary sequestration, congenital cystic adenomatoid malformation, and pulmonary lymphangiectasia. (author)

  9. CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT IN CHILDREN

    Directory of Open Access Journals (Sweden)

    Matjaž Kopač

    2015-03-01

    Full Text Available Congenital anomalies of the kidney and urinary tract are the commonest congenital anomalies in children, often detected prenatally with ultrasound. This method is useful for assesing the degree of dilatation of the collecting system, structure of the kidney parenchyma, amount of amniotic fluid and urinary bladder. Hydronephrosis is the most common among them. Anomalies can be bilateral or unilateral and different defects may coexist in an individual child. Anomalies of other organs and organ systems are often associated with anomalies of the kidneys and urinary tract, described in numerous syndromes. Congenital anomalies of the kidney and urinary tract can be divided in anomalies of the renal parencyma development, renal embryonic migration and position, cystic kidney diseases and anomalies of the urinary tract (collecting system of the kidneys, ureters, urinary bladder and urethra. They are the commonest cause of end-stage renal disease in children.

  10. Congenital cholesteatoma of the middle ear - uncommon clinical presentation

    Directory of Open Access Journals (Sweden)

    Bukurov Bojana

    2014-01-01

    Full Text Available Introduction. Congenital cholesteatoma of the middle ear is un uncommon and yet not well-defined disease. Only few cases of cholesteatoma in the fossa ovalis with unusual clinical presentation have been reported in medical literature. Case report. We reported a 16-year-old girl with congenital cholesteatoma in the fossa ovalis with minimal clinical presentation. A small mass was found occluding the fossa ovalis and mimicking otosclerotic process within tympanic cavity. The operation started as stapedotomy, and when the process was confirmed it converted to mastoidectomy via the retroauricular approach. Conclusion. The diagnosis of congenital cholesteatoma in children should always be considered, even if the clinical symptoms imitate other ear disorders, in our case otosclerosis. [Projekat Ministarstva nauke Republike Srbije, br. 179055: Cochlear implantation impact on education of deaf and hearing-impaired

  11. Congenital anomalies of the coronary sinus: A pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jung Eun; Kwon, Se Hwan; Oh, Joo Hyeong [Dept. of Radiology, College of Medicine, Kyung Hee University, Seoul (Korea, Republic of)

    2013-07-15

    Congenital anomalies involving the coronary sinus (CS) tend to receive relatively little attention because they rarely cause clinical symptoms or disturbances of cardiac function. However, as imaging modalities have been developed over time, the detailed anatomy of the heart, including CS anomalies, can now be evaluated more precisely. The purpose of this pictorial review is to illustrate multi-detector computed tomography findings of various congenital anomalies of the CS. The cardiac venous system and its embryologic development are also described in detail to familiarize radiologists with various congenital anomalies of the CS.

  12. Fetal Exposure to Montelukast and Congenital Anomalies

    DEFF Research Database (Denmark)

    Cavero-Carbonell, Clara; Vinkel-Hansen, Anne; Rabanque-Hernández, M. José

    2017-01-01

    Background: The objective was to study pregnancy outcomes between groups of Danish women, with pregnancy ending between 1998 and 2009, according to their exposure to montelukast. Methods: Cross-sectional observational study in Danish women, selecting live births and stillbirths (Birth Registry......: 401 pregnancies in group 1, 426 pregnancies in group 2, 24878 in group 3 and 728,595 in group 4. Risk of preterm birth, maternal preeclampsia and gestational diabetes was increased for pregnancies exposed to montelukast. No significant differences were found for the risk of major congenital anomalies...... (CA). Adjusted odds ratio for CA was 1.4 (95% CI 0.9–2.3) for the group 1 and 1.0 (95% CI 0.6–1.8) for group 2. Conclusion: Pregnant women with prescriptions for montelukast had a higher risk of preterm birth and maternal complications. These risks are known to be associated with maternal asthma...

  13. Contribution of Congenital Anomalies to Neonatal Mortality Rates in Malta.

    Science.gov (United States)

    Gatt, Miriam; England, Kathleen; Grech, Victor; Calleja, Neville

    2015-09-01

    Neonatal mortality is a public health concern, and congenital anomalies contribute significantly to this mortality. This paper describes trends in neonatal mortality in Malta separately for congenital anomaly and non-congenital anomaly causes. Data for neonatal deaths of 22-week gestation onwards registered between 1994-2013 were obtained from the National Mortality Register. Chi-square tests were used to analyse 5-year time trends and differences in proportions of causes of neonatal deaths. Neonatal mortality was compared with other European countries. Between 1994 and 2013, 441 neonatal deaths and 84 821 livebirths were registered, giving a neonatal mortality of 5.2 per 1000 livebirths. Congenital anomalies accounted for 36.7% (n = 162) of the neonatal deaths, while the remaining 63.3% (n = 279) were attributed to non-congenital causes. During the 20-year period, neonatal mortality due to non-congenital causes decreased from 4.6 per 1000 livebirths in 1994-98 to 2.5 per 1000 in 2009-13, while that due to congenital anomalies remained stable (2.0 per 1000 livebirths in 1994-98 and 2.2 per 1000 in 2009-13). This has resulted in comparatively higher proportions of neonatal deaths attributed to congenital anomalies in recent years (45.9% in 2009-13 vs. 29.9% in 1994-98). Comparing neonatal mortality reported from European countries, Malta has a high rate most marked for deaths due to congenital anomalies. During 1994-2013, neonatal mortality has decreased due to a decline of non-congenital causes of death, possibly related to improved health care. The proportionate neonatal mortality attributed to congenital anomalies has increased and is the highest reported from Europe. This may be explained by the fact that termination of pregnancy is illegal in Malta. © 2015 John Wiley & Sons Ltd.

  14. [Clinical analysis of 102 patients with congenital inner ear malformation].

    Science.gov (United States)

    Zhu, X; Lian, N; Cai, Z

    1995-01-01

    Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

  15. CT analysis of 333 cases of congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    Zou Xin; Li Qiang; Wang Zhenchang; Xian Junfang; Lan Baosen

    1997-01-01

    To analyze the different CT findings of congenital malformations of the external and middle ear, 333 cases including 404 ears with external and middle ear malformations diagnosed by high resolution CT (HRCT) were analysed according to the location and type of the malformation. In 404 ears, there were 364 ears with atresia of external auditory meatus, 40 ears with stenosis of external auditory meatus, 377 ears with malformation of the ossicles, 382 ears with stenosis of tympanum and 333 ears with anterior position of the mastoid segment of the facial canal. HRCT can show the location and type of external and middle ear malformation and provide valuable information for surgery

  16. Congenital anomalies of the limbs in mythology and antiquity.

    Science.gov (United States)

    Mavrogenis, Andreas F; Markatos, Konstantinos; Nikolaou, Vasilios; Gartziou-Tatti, Ariadne; Soucacos, Panayotis N

    2018-01-21

    Congenital anomalies of the limbs have been observed since ancient human civilizations, capturing the imagination of ancient physicians and people. The knowledge of the era could not possibly theorize on the biologic aspects of these anomalies; however, from the very beginning of civilization the spiritual status of people attempted to find a logical explanation for the existence of such cases. The next logical step of the spiritual and religious system of the ancients was to correlate these anomalies with the Gods and to attribute them to a different level of existence in order to rationalize their existence. In these settings, the mythology and religious beliefs of ancient civilizations comprised several creatures that were related to the observed congenital anomalies in humans. The purpose of this historic review is to summarize the depiction of congenital anomalies of the limbs in mythology and antiquity, to present several mythological creatures with resemblance to humans with congenital anomalies of the limbs, to present the atmosphere of the era concerning the congenital anomalies, and to theorize on the anomaly and medical explanation upon which such creatures were depicted. Our aim is to put historic information in one place, creating a comprehensive review that the curious reader would find interesting and enjoyable.

  17. Insulin analogues in pregnancy and specific congenital anomalies

    DEFF Research Database (Denmark)

    de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa

    2016-01-01

    women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we...... included 1286 foetuses of mothers using short-acting insulin analogues with 1089 references of mothers using human insulin and 768 foetuses of mothers using long-acting insulin analogues with 685 references of mothers using long-acting human insulin (Neutral Protamine Hagedorn). The congenital anomaly rate...... was 4.84% and 4.29% among the foetuses of mothers using lispro and aspart. For glargine and detemir, the congenital anomaly rate was 2.86% and 3.47%, respectively. No studies on the use of insulin glulisine and degludec in pregnancy were found. There was no statistically significant difference...

  18. Epidemiology of congenital anomalies in different ethnicities.

    Science.gov (United States)

    Anastasiadis, P; Tsikouras, P; Dafopoulos, K; Liberis, V; Galazios, G; Koutlaki, N

    2005-01-01

    To study the prevalence and the epidemiologic characteristics of major congenital anomalies (MCAs) in two different populations in Thrace-Greece. The ethnic origin of all mothers who delivered in our department and the types of MCAs were determined. We compared the frequencies of MCAs between Christians and Muslims. The chi-square test, t-test, binary and multinomial logistic regression analysis were performed. The prevalence of MCAs was significantly higher in Muslims as compared to Christians (51/4,028 (12.78%) vs 49/5,994 (8.17%), p = 0.035). However, the frequencies of each type of MCA in the total number of deliveries between the two groups did not differ significantly. The central nervous system malformations were most frequently associated with perinatal mortality. This is the first study in Greece showing that there is probably a higher prevalence of MCAs in Muslims as compared to Christians, although it can not be elucidated whether this increased risk is related to specific differences between them.

  19. Epidemiological Features of Congenital Anomalies in Tabriz District, a Population Based Study

    Directory of Open Access Journals (Sweden)

    Majid Karamooz

    2015-08-01

    Full Text Available Background and objectives : Congenital anomalies are responsible for a remarkable proportion of mortalities and morbidities of the newborn population. The aim of this study was to investigate the epidemiological features of birth defects in rural areas of Tabriz, northwest of Iran. Material and Methods : The study population comprised live births under 8 years old in Tabriz district. All health records of the children under 8 years old were evaluated. Results : Out of 22500 live births, we documented 254 cases with congenital anomalies. The prevalence rate of birth defects was 113 per 10000 births (95% CI: 99 to 126. Anomalies of the nervous system were the most common defects, accounting for 24% of birth defects. It was followed by the heart diseases anomalies and the eye/ear anomalies. The highest prevalence rate for birth defects was observed in the north-eastern region with 386 per 10000 live births (95% CI: 215 to 556 and the lowest prevalence rate was observed in the north-western region with 15 per 10000 live births     (95% CI: -14 to 45. Conclusion : The remarkable geographic disparities in the prevalence of birth defects in the region may indicate for a new investigation for the etiology of congenital anomalies.

  20. EUROCAT website data on prenatal detection rates of congenital anomalies

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Loane, Maria

    2010-01-01

    The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can...... be useful for comparative purposes to clinicians and public health service managers involved in the antenatal care of pregnant women as well as those interested in perinatal epidemiology....

  1. Arsenic in drinking water and congenital heart anomalies in Hungary.

    Science.gov (United States)

    Rudnai, Tamás; Sándor, János; Kádár, Mihály; Borsányi, Mátyás; Béres, Judit; Métneki, Júlia; Maráczi, Gabriella; Rudnai, Péter

    2014-11-01

    Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n=9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n=5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 μg/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 μg/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR=1.41; 95% C.I.: 1.28-1.56), and especially that of ductus Botalli persistens (adjusted OR=1.81, 95%C.I.: 1.54-2.11) and atrial septal defect (adjusted OR=1.79; 95%C.I.: 1.59-2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 μg/L during pregnancy. Further studies of possible similar effects of concentrations below 10 μg/L are warranted. Copyright © 2014 Elsevier GmbH. All rights reserved.

  2. [Diagnostic value of high-resolution computed tomography imaging in congenital inner ear malformations].

    Science.gov (United States)

    Sun, Xiaowei; Ding, Yuanping; Zhang, Jianji; Chen, Ying; Xu, Anting; Dou, Fenfen; Zhang, Zihe

    2007-02-01

    To observe the inner ear structure with volume rendering (VR) reconstruction and to evaluate the role of high-resolution computed tomography (HRCT) in congenital inner ear malformations. HRCT scanning was performed in 10 patients (20 ears) without ear disease (control group) and 7 patients (11 ears) with inner ear malformations (IEM group) and the original data was processed with VR reconstruction. The inner ear osseous labyrinth structure in the images generated by these techniques was observed respectively in the normal ears and malformation ears. The inner ear osseous labyrinth structure and the relationship was displayed clearly in VR imaging in the control group,meanwhile, characters and degree of malformed structure were also displayed clearly in the IEA group. Of seven patients (11 ears) with congenital inner ear malformations, the axial, MPR and VR images can display the site and degree in 9 ears. VR images were superior to the axial images in displaying the malformations in 2 ears with the small lateral semicircular canal malformations. The malformations included Mondini deformity (7 ears), vestibular and semicircular canal malformations (3 ears), vestibular aqueduct dilate (7 ears, of which 6 ears accompanied by other malformations) , the internal auditory canal malformation (2 ears, all accompanied by other malformations). HRCT can display the normal structure of bone inner ear through high quality VR reconstructions. VR images can also display the site and degree of the malformations three-dimensionally and intuitively. HRCT is valuable in diagnosing the inner ear malformation.

  3. The Prevalence of minor congenital anomalies and normal variations in neonates in Bushehr Port

    Directory of Open Access Journals (Sweden)

    Gholamreza Pouladfar

    2005-09-01

    Full Text Available Background: Congenital malformations are a major reason for medical interventions, long-term illness and death. Minor congenital anomaly is not important in appearance and surgical views, and its prevalence in general population is less than 4%, however a normal variation has a prevalence of more than 4% in general population. Methods: In a prospective study from Aug 2002 to Mar 2003, seven hundreds and fifteen (45.45% male and 59.54% female consecutive newborns in random days were examined for the presence of minor congenital malformations in a university hospital. Results: The overall incidence of minor malformations was 5.03% (55.55% male and 44.46% female p>0.05. 0.28% of neonates had two minor anomalies. The musculoskeletal system (2.25% was the most common involved system followed by genitourinary system (1.39%, skin (0.99%, ear (0.42% and nose (0.14%. Mongolian spot (6.01% and hydrocele (7.69% were detected as normal variations. The positional clubfoot (1.82% was the most common minor congenital anomaly followed by undescended tests (1.85% in males and granular hypospadias (0.92% in males and sacral dimpling (0.56%. Conclusion: The minor anomalies are detecting in a significant number of neonates in Bushehr Port. Mongolian spot and hydrocele are two normal variations among neonates in Bushehr port.

  4. Chromosomal study in newborn infants with congenital anomalies in ...

    African Journals Online (AJOL)

    Yasir A. Mohammed

    tory, family history, perinatal history, pedigree construction as well as clinical examinations and investigations including karyotype were done. Congenital anomalies were found in 103 cases with a prevalence of 2.06% with male to female ratio of 1.7:1. Skeletal system anomalies had the highest. * Corresponding author.

  5. Congenital pouch colon: Increasing association with low anorectal anomalies

    Directory of Open Access Journals (Sweden)

    Pavai Arunachalam

    2009-01-01

    Full Text Available Three cases of type IV congenital pouch colon associated with low anorectal anomaly are reported here. Pouch colon may be a cause of intractable constipation in children operated for low anorectal anomaly. Excellent results can be obtained by exicision of the pouch. The radiological and pathological features of this condition are discussed.

  6. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

    Morris, Joan K; Garne, Ester; Wellesley, Diana

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

  7. Estimating Global Burden of Disease due to congenital anomaly

    DEFF Research Database (Denmark)

    Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz

    2018-01-01

    OBJECTIVE: To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal...... anomaly (TOPFA) in the interpretation of infant mortality statistics. DESIGN, SETTING AND OUTCOME MEASURES: EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005...

  8. [Cochlear implant in patients with congenital malformation of inner ear].

    Science.gov (United States)

    Han, Dong-yi; Wu, Wen-ming; Xi, Xin; Huang, De-liang; Yang, Wei-yan

    2004-02-01

    To study surgical difficulty and key of the cochlear implant in patients with congenital malformation of inner ear. The cochlear implantations were performed in our department from Jan. 2001 to Apr. 2003 for 18 patients with the malformation of inner ear. In this series, there were 11 cases of large vestibular aqueduct syndrome (LVAS), 3 cases of Waardenberg syndrome, 3 cases of Mondini malformation, and 1 case of Usher syndrome. All 18 patients accepted the Nucleus 24-channel cochlear implantations, including Nucleus straight electrode in 13 cases but Contour implantation in 5 cases of LVAS. During operations, leakage of perilymph but not cerebrospinal fluid (CSF) from the open of scala tympani occurred in 11 cases of LVAS, however, the electrode was inserted successfully. The abnormalities of round window occurred in one of 3 cases of Waardenberg syndrome and 3 cases of Mondini malformation, respectively. The cochlear implant could be conducted successfully for the LVAS, and the postoperative effect was same as the ones for the deafness persons with normal development of inner ear. However, for the patients with Mondini syndrome and common cavity, it is important to accurately assess the extent of abnormalities in the inner ear and accompanied malformation before operation, and to evaluate the full extent of difficulties of the operation in order to minimize the risk of CSF leakage and meningitis.

  9. Non-occupational exposure to paint fumes during pregnancy and risk of congenital anomalies: a cohort study.

    Science.gov (United States)

    Hjortebjerg, Dorrit; Andersen, Anne-Marie Nybo; Garne, Ester; Raaschou-Nielsen, Ole; Sørensen, Mette

    2012-08-14

    Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population. We studied associations between residential exposure to paint fumes during the 1st trimester of pregnancy and predefined subgroups of congenital anomalies, using data from the Danish National Birth Cohort (DNBC). During 2001 and 2003, a total of 20,103 pregnant women, enrolled in the DNBC, were interviewed in the 30th week of gestation about the use of paint in their residence during pregnancy. By the end of first trimester, information about smoking habits, alcohol consumption and occupation were collected. Information on congenital anomalies was obtained from national registers. Associations were examined by estimating odds ratios (OR) using logistic regression. In total 1404 women (7%) had been exposed to paint fumes during the 1st trimester of pregnancy and 1086 children were diagnosed with congenital anomalies; 73 children with congenital anomalies had been exposed to paint fumes in utero. Exposure to paint fumes seemed positively associated with congenital anomalies of the nervous system (OR 2.19, 95% confidence interval (CI) 0.76 to 6.32), ear, face and neck (OR 2.15, 95% CI 0.84 to 5.55) and the renal system (OR 2.16, 95% CI 1.02 to 4.58) after adjustment for maternal age, smoking, alcohol consumption and occupational solvent exposure. Congenital anomalies in the remaining subgroups were not associated with the exposure. Our results suggest that in the general population, exposure to paint fumes during the 1st trimester of pregnancy may increase the risk of some types of congenital anomalies, but the findings need to be confirmed.

  10. Non-occupational exposure to paint fumes during pregnancy and risk of congenital anomalies: a cohort study

    Directory of Open Access Journals (Sweden)

    Hjortebjerg Dorrit

    2012-08-01

    Full Text Available Abstract Background Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population. Methods We studied associations between residential exposure to paint fumes during the 1st trimester of pregnancy and predefined subgroups of congenital anomalies, using data from the Danish National Birth Cohort (DNBC. During 2001 and 2003, a total of 20 103 pregnant women, enrolled in the DNBC, were interviewed in the 30th week of gestation about the use of paint in their residence during pregnancy. By the end of first trimester, information about smoking habits, alcohol consumption and occupation were collected. Information on congenital anomalies was obtained from national registers. Associations were examined by estimating odds ratios (OR using logistic regression. Results In total 1404 women (7% had been exposed to paint fumes during the 1st trimester of pregnancy and 1086 children were diagnosed with congenital anomalies; 73 children with congenital anomalies had been exposed to paint fumes in utero. Exposure to paint fumes seemed positively associated with congenital anomalies of the nervous system (OR 2.19, 95% confidence interval (CI 0.76 to 6.32, ear, face and neck (OR 2.15, 95% CI 0.84 to 5.55 and the renal system (OR 2.16, 95% CI 1.02 to 4.58 after adjustment for maternal age, smoking, alcohol consumption and occupational solvent exposure. Congenital anomalies in the remaining subgroups were not associated with the exposure. Conclusions Our results suggest that in the general population, exposure to paint fumes during the 1st trimester of pregnancy may increase the risk of some types of congenital anomalies, but the findings need to be confirmed.

  11. Is There a Right Ear Advantage in Congenital Aural Atresia?

    Science.gov (United States)

    Reed, Robert; Hubbard, Matthew; Kesser, Bradley W

    2016-12-01

    To compare speech/language development and academic progress between children with right versus left congenital aural atresia (CAA). Case control survey and review of audiometric data. Tertiary care academic practice. Children with unilateral CAA. Demographic and audiometric data; rates of grade retention, use of any hearing or learning resource, and behavioral problems. No significant differences in grade retention rate, utilization of amplification, speech language therapy, use of an individualized education program, or frequency modulated system were found between children with right versus left CAA. Children with left CAA were significantly more likely to be enrolled in special education programs (p = 0.026). Differences in reported communication problems approached significance with more difficulty noted in the right ear group (p = 0.059). Left CAA patients were also more likely to have reported behavioral problems (p = 0.0039). Contrary to the hypothesis that a normal hearing right ear confers a language advantage in patients with unilateral hearing loss, children with left CAA (normal right ear) were statistically more likely to be enrolled in a special education program and have behavioral problems. Reported communication problems were more common in right CAA patients, but this did not reach statistical significance. No differences were found in use of amplification, frequency modulated system, individualized education program, or grade retention. Further investigation of both the clinical implications and underlying psychoacoustics of unilateral hearing loss and the identification and habilitation of "at risk" unilateral hearing loss children is warranted.

  12. De novo pericentric inversion of chromosome 9 in congenital anomaly.

    Science.gov (United States)

    Jeong, Seon-Yong; Kim, Bo-Young; Yu, Jae Eun

    2010-09-01

    The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data. Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13). Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

  13. Case Report - Facial dysmorphism, skeletal anomalies, congenital ...

    African Journals Online (AJOL)

    Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly ...

  14. Hypospadias: Prevalence, birthweight and associated major congenital anomalies.

    Science.gov (United States)

    Nissen, Karin Baekgaard; Udesen, Ann; Garne, Ester

    2015-02-01

    The aim of this study was to determine the prevalence of hypospadias over 24 years in a Danish population and to describe the relation to birthweight and associated major congenital anomalies. It is a population-based study of all cases (live births, fetal deaths and elective terminations of pregnancy) with hypospadias born in the period 1986-2009 in Funen County and reported to the EUROCAT registry of congenital anomalies. Cases were included only if surgery for hypospadias was performed. 223 cases of hypospadias were registered during the period 1986-2009 with an overall prevalence of 16.9 per 10 000 births. The prevalence was significantly higher in 2000-2009 compared to 1986-1999 (P hypospadias. Infants with isolated hypospadias were more likely to have mild hypospadias (68%) while cases with associated major congenital anomalies were less likely to have mild hypospadias (42%) (P Hypospadias was associated with VLBW and the severity of the defect was related to the presence of major congenital anomalies. The prevalence of hypospadias has increased during the study period. The relation to VLBW could indicate a causal relationship for hypospadias or a shared pathogenic factor. © 2014 Japanese Teratology Society.

  15. The incidence of apparent congenital urogenital anomalies in North ...

    African Journals Online (AJOL)

    A. Bhat

    2016-07-18

    Jul 18, 2016 ... Prune belly syndrome;. Ambiguous genitalia. Abstract. Introduction and objectives: Over the last few decades, congenital anomalies of the urogenital system have increased globally as a consequence of advanced maternal age at pregnancy and developments in assisted reproductive techniques. The aim ...

  16. Drug safety in pregnancy--monitoring congenital anomalies.

    Science.gov (United States)

    Morgan, Margery; De Jong-van den Berg, Lolkje T W; Jordan, Sue

    2011-04-01

    This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored to prevent anything similar happening again. However, monitoring is incomplete and questions remain unanswered. Many medicines are essential for the health of pregnant women. However, drug use in pregnancy requires surveillance. Methods include spontaneous reporting of adverse events, cohort studies and case control studies. It is hoped that a Europe-wide study, combining data from several congenital anomaly registers, will provide a sufficiently large population to assess the impact of selected drugs on congenital anomalies. However, this work depends on the consistency of reporting by nurses and midwives. Drug safety in pregnancy remains undetermined. Collaboration across Europe has the potential to provide a framework for safety evaluation. Prescribers should consider the possibility of pregnancy in women of child-bearing age. Careful review of maternal drug use in early pregnancy is essential. Midwives and nurses should be aware of adverse event drug reporting systems, including congenital anomaly registers. © 2011 The Authors. Journal compilation © 2011 Blackwell Publishing Ltd.

  17. Using scan statistics for congenital anomalies surveillance: the EUROCAT methodology.

    Science.gov (United States)

    Teljeur, Conor; Kelly, Alan; Loane, Maria; Densem, James; Dolk, Helen

    2015-11-01

    Scan statistics have been used extensively to identify temporal clusters of health events. We describe the temporal cluster detection methodology adopted by the EUROCAT (European Surveillance of Congenital Anomalies) monitoring system. Since 2001, EUROCAT has implemented variable window width scan statistic for detecting unusual temporal aggregations of congenital anomaly cases. The scan windows are based on numbers of cases rather than being defined by time. The methodology is imbedded in the EUROCAT Central Database for annual application to centrally held registry data. The methodology was incrementally adapted to improve the utility and to address statistical issues. Simulation exercises were used to determine the power of the methodology to identify periods of raised risk (of 1-18 months). In order to operationalize the scan methodology, a number of adaptations were needed, including: estimating date of conception as unit of time; deciding the maximum length (in time) and recency of clusters of interest; reporting of multiple and overlapping significant clusters; replacing the Monte Carlo simulation with a lookup table to reduce computation time; and placing a threshold on underlying population change and estimating the false positive rate by simulation. Exploration of power found that raised risk periods lasting 1 month are unlikely to be detected except when the relative risk and case counts are high. The variable window width scan statistic is a useful tool for the surveillance of congenital anomalies. Numerous adaptations have improved the utility of the original methodology in the context of temporal cluster detection in congenital anomalies.

  18. Congenital anomalies: Prospective study of pattern and associated ...

    African Journals Online (AJOL)

    2017-04-02

    Apr 2, 2017 ... The LMIC's also bear the greater burden of increasing perinatal deaths from congenital anomalies estimated at. 12.7%.12. Survivors many times may have livelong dis- abilities with impairment of quality of life. This article aims to study the contemporary epidemiol- ogy and risk factors associated with ...

  19. Trisomy 13 in monozygotic twins discordant for major congenital anomalies.

    OpenAIRE

    Naor, N; Amir, Y; Cohen, T; Davidson, S

    1987-01-01

    The occurrence of trisomy 13 in twins is very rare. We report a pair of genotypically identical twins with trisomy 13 discordant for major anomalies. This case contributes to the already published data on the contribution of non-genetic factors to the aetiology of congenital malformations in monozygotic twins.

  20. Tissue Engineering for Congenital Anomalies concerning the Bladder and Abdominal Wall.

    NARCIS (Netherlands)

    Roelofs, L.A.J.

    2014-01-01

    Severe congenital anomalies can have a large impact on the lives of patients. With tissue engineering techniques damaged or absent tissue can be regenerated, which can become a treatment option for congenital anomalies. In this thesis treatment possibilities for congenital anomalies concerning the

  1. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  2. Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

    Science.gov (United States)

    Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

    2013-01-01

    Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

  3. Scrotoschisis: A rare congenital urologic anomaly

    Directory of Open Access Journals (Sweden)

    Aliyu Umar Farinyaro

    2015-02-01

    Full Text Available Scrotoschisis is a congenital extrusion of the testis through a defect in the scrotum. The condition is extremely rare, with only a few cases reported in the literature. We present 2 full term neonates one of whom had bilateral and the other right scrotoschisis and a contralateral communicating hydrocele. They presented at the ages of 7 and 22 days, as referral from rural health centers. They both had successful repair. Testes were in the scrotum after 1 year and 6 months follow-up, respectively. Long term follows up and further evaluations are, therefore, required.

  4. Adverse social determinants and risk for congenital anomalies.

    Science.gov (United States)

    Pawluk, Mariela S; Campaña, Hebe; Gili, Juan A; Comas, Belén; Giménez, Lucas G; Villalba, María I; Scala, Sandra C; Poletta, Fernando A; López Camelo, Jorge S

    2014-06-01

    Different studies have related familiar and regional adverse social conditions to perinatal outcome (neonatal mortality, low birth weight and prematurity); however, few studies have studied the effect of poverty on congenital anomalies. To assess the hazard ratio of 25 congenital anomalies and adverse social determinants as per the socioeconomic level of families and regions. Exploratory, case-control study using data from the Latin-American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latinoamericano de Malformaciones Congenitas, ECLAMC). The sample consisted of 3786 live newborn infants with a single malformation and 13,344 controls selected among 546,129 births occurred in 39 hospitals from Argentina in the 1992-2001 period. Both direct and indirect (residence) risks (OR) were estimated, together with the interaction between the individual and residential socioeconomic levels for each of the 25 congenital anomalies. Cleft lip with/without cleft palate (OR= 1.43) and ventricular septal defect (OR= 1.38) showed a significantly higher risk in the lower socioeconomic level. Low socioeconomic levels were significantly associated with a higher frequency of parental sibship (blood relationship); native descent; maternal age younger than 19 years old; more than four pregnancies; a low number of antenatal care visits; and residence in deprived regions. Cleft lip with/without cleft palate and ventricular septal defects were significantly associated with a lower socioeconomic level. Lack of family planning and antenatal care; and exposure to environmental or teratogenic agents may account for these findings.

  5. Inner ear anomalies seen on CT images in people with Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M. [The Johns Hopkins Medical Institutions, The Russell H. Morgan Department of Radiology and Radiological Sciences, Baltimore, MD (United States); Tunkel, David E. [The Johns Hopkins Medical Institutions, Department of Otolaryngology-Head and Neck Surgery, Baltimore, MD (United States); Carone, Marco [University of California, Division of Biostatistics, School of Public Health, Berkeley, CA (United States)

    2012-12-15

    Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

  6. Inner ear anomalies seen on CT images in people with Down syndrome

    International Nuclear Information System (INIS)

    Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M.; Tunkel, David E.; Carone, Marco

    2012-01-01

    Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

  7. [Diagnostic significance of multi-slice computed tomography imaging in congenital inner ear malformations].

    Science.gov (United States)

    Ma, Hui; Han, Ping; Liang, Bo; Liu, Fang; Tian, Zhi-Liang; Lei, Zi-Qiao; Li, You-Lin; Kong, Wei-Jia

    2005-04-01

    To evaluate the feasibility and usability of multi-slice computed tomography (MSCT) in congenital inner ear malformations. Fourty-four patients with sensorineural hearing loss (SNHL) were examined by a Somatom Sensation 16 (siemens, Germany) CT scanner with following parameters: 120 kV, 100 mAs, 0.75 mm collimation, 1 mm reconstruction increment, a pitch factor of 1 and a field of view of 100 mm. The axial images of interested ears were reconstructed with 0.1 mm reconstruction increment, and a field of view of 50 mm. The 3D reconstructions were done with volume rendering technique (VRT) on the workstation (3D Virtuoso and Wizard,siemens). Twenty-five patients were normal and 19 patients (36 ears) were congenital inner ear malformations among 44 patients scanned with MSCT. Of the malformations, all the axial, MPR and VRT images can display the site and degree in 33 ears. VRT images were superior to the axial images in displaying the malformations in 3 ears with the small lateral semicircular canal malformations. The malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity, 5 ears), vestibular and semicircular canal malformations( 14 ears), vestibular aqueduct dilate( 16 ears, of which 6 ears accompanied by other malformations), the internal auditory canal malformation(8 ears, all accompanied by other malformations). MSCT allows a comprehensively assessing various congenital ear malformations through high quality MPR and VRT reconstructions. VRT images can display the site and degree of the malformations three-dimensionally and intuitionisticly. It is very useful to the cochlear implantation.

  8. Pictorial essay: Congenital anomalies of male urethra in children

    Science.gov (United States)

    Jana, Manisha; Gupta, Arun K; Prasad, Kundum R; Goel, Sandeep; Tambade, Vishal D; Sinha, Upasna

    2011-01-01

    Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions. PMID:21431032

  9. Pictorial essay: Congenital anomalies of male urethra in children

    International Nuclear Information System (INIS)

    Jana, Manisha; Gupta, Arun K; Prasad, Kundum R; Goel, Sandeep; Tambade, Vishal D; Sinha, Upasna

    2011-01-01

    Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions

  10. Pictorial essay: Congenital anomalies of male urethra in children

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2011-01-01

    Full Text Available Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions.

  11. Hypospadias - prevalence, birth weight and associated major congenital anomalies

    DEFF Research Database (Denmark)

    Nissen, Karin Baekgaard; Udesen, Ann; Garne, Ester

    2015-01-01

    AIM: The aim of this study was to determine the prevalence of hypospadias over 24 years in a Danish population and to describe the relation to birth weight and associated major congenital anomalies. METHODS: Population-based study of all cases (live births, fetal deaths and elective terminations...... of pregnancy) with hypospadias born in the period 1986-2009 in Funen County and reported to the EUROCAT registry of congenital anomalies. Cases were included only if surgery for hypospadias was performed. RESULTS: 223 cases of hypospadias were registered during the period 1986-2009 with an overall prevalence...... of 16.9 per 10,000 births. The prevalence was significantly higher in 2000-2009 compared to 1986-1999 (phypospadias. Infants with isolated hypospadias were more likely to have mild hypospadias (68...

  12. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

    Science.gov (United States)

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel–Joubert, short rib, Bardet–Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

  13. Congenital anomalies among live births in a polluted area. A ten-year retrospective study

    Directory of Open Access Journals (Sweden)

    Gianicolo Emilio Antonio Luca

    2012-12-01

    Full Text Available Abstract Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. Methods This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosis of congenital anomaly. We classified cases according to the coding system adopted by the European Network for the Surveillance of Congenital Anomalies (EUROCAT. Prevalence rates of congenital anomalies in Brindisi were compared with those reported by EUROCAT. Logistic regression models were adapted to evaluate the association between congenital anomalies and municipality of residence of the mother during pregnancy. Results Out of 8,503 newborns we recorded 194 subjects with congenital anomalies (228.2/10,000 total births, 1.2 times higher than the one reported by the EUROCAT pool of registries. We observed 83 subjects with congenital heart diseases with an excess of 49.1%. Odds Ratios for congenital heart diseases significantly increased for newborns to mothers resident in Brindisi (OR 1.75 CI 95% 1.30-2.35. Conclusions Our findings indicated an increased prevalence of Congenital Anomalies (especially congenital heart diseases in the city of Brindisi. More research is needed in order to analyze the role of factors potentially involved in the causation of congenital anomalies.

  14. Trends in congenital anomalies in Europe from 1980 to 2012

    Science.gov (United States)

    Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E. H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

    2018-01-01

    Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003–2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation. PMID:29621304

  15. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    International Nuclear Information System (INIS)

    Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

    2014-01-01

    There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

  16. Monitoring of congenital anomalies in Japan

    International Nuclear Information System (INIS)

    Kuroki, Y.; Konishi, H.

    1992-01-01

    Birth defects monitoring system is one of the most effective strategies to prevent birth defects mainly caused by environmental factors. Six different monitoring systems are working in Japan. Three of them are population-based and the other three hospital-based, both are widely scattered in Japan. Basic methodological designs of all birth defects monitoring systems are same. Therefore, the combination of them seems to be ideal. Total number of births surveyed in all systems are 283,000 annually. Each system has already accumulated relevant baseline data. Birth defects monitoring has another function to test the safety of widely exposed factors such as smoking, alcohol, low dose radiations, etc. Maternal smoking has some adverse effects on morphogenesis of the fetus. However, low dose radiations during or before pregnancy have no significant teratogenic effects on the fetus. The genetic effects of the Chernobyl nuclear power plant accident was studied. The annual effective dose equivalent to Japanese population due to radioactive fallout from the accident was assessed to be 5 μSv/y. No measurable mutagenic effects were recognized in Kanagawa by the analysis of three sentinel anomalies. (author)

  17. [Congenital anomalies of poor prognosis. Genetics Consensus Committee].

    Science.gov (United States)

    Pardo Vargas, Rosa A; Aracena, Mariana; Aravena, Teresa; Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado, Cecilia; Passalacqua, Cristóbal; Sanz, Patricia; Castillo Taucher, Silvia

    The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it. It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP. A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Congenital anomalies and childhood cancer in Great Britain

    Energy Technology Data Exchange (ETDEWEB)

    Narod, S.A. [Univ. of Toronto (Canada); Hawkins, M.M.; Robertson, C.M.; Stiller, C.A. [Univ. of Oxford (United Kingdom)

    1997-03-01

    The presence of cancer and a congenital anomaly in the same child may be explained in certain cases by an underlying genetic abnormality. The study of these associations may lead to the identification of genes that are important in both processes. We have examined the records of 20,304 children with cancer in Britain, who were entered into the National Registry of Childhood Tumors (NRCT) during 1971-86, for the presence of congenital anomalies. The frequency of anomalies was much higher among children with solid tumors (4.4%) than among those with leukemia or lymphoma (2.6%; P < .0001). The types of cancer with the highest rates of anomalies were Wilms tumor (8.1 %), Ewing sarcoma (5.8%), hepatoblastoma (6.4%), and gonadal and germ-cell tumors (6.4%). Cases of spina bifida and abnormalities of the eye, ribs, and spine were more common in children with cancer than among population-based controls. Future studies may be directed toward identifying the developmental pathways and the relevant genes that are involved in the overlap between pediatric cancer and malformation. 46 refs., 12 tabs.

  19. Prenatal counselling for congenital anomalies: a systematic review.

    Science.gov (United States)

    Marokakis, Sarah; Kasparian, Nadine A; Kennedy, Sean E

    2016-07-01

    Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic review aimed to (1) synthesise the evidence on the impact of non-genetic, prenatal counselling after fetal diagnosis of a congenital anomaly on parental knowledge and psychological adjustment and (2) identify parents' preferences for the timing and format of counselling. Five electronic databases were systematically searched to identify studies assessing prenatal counselling provided to parents after prenatal diagnosis of one or more structural congenital anomalies. Data were extracted using predefined data forms, according to the preferred reporting items for systematic reviews and meta-analyses guidelines, and synthesised. Twenty four articles were included for review; most articles reported results of retrospective surveys and the quality of included studies was variable. Only three studies assessed parental anxiety, and each reported a significant decrease in anxiety following prenatal counselling. Parents expressed a preference for counselling on all aspects of their baby's anomaly as soon as possible after prenatal diagnosis, and desired written, visual and web-based information resources, and support group contacts. Although prenatal counselling reduced parental anxiety, further research is needed to adequately assess the impact of prenatal counselling on other psychological outcomes. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  20. Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies

    DEFF Research Database (Denmark)

    Bergman, Jorieke E H; Lutke, L Renée; Gans, Rijk O B

    2018-01-01

    the risk of specific congenital anomalies in offspring. METHODS: A population-based case-malformed control study was conducted in 117,122 registrations of congenital anomalies from 17 European Concerted Action on Congenital Anomalies and Twins (EUROCAT) registries participating in EUROmediCAT with data...... compared with two control groups (non-chromosomal, non-signal anomalies and chromosomal anomalies). The exploratory analyses were performed for each non-signal anomaly compared with all the other non-signal anomalies. RESULTS: The signals from the literature (congenital heart defects, oral clefts, neural......-blocker use in the first trimester of pregnancy was not found to be associated with a higher risk of specific congenital anomalies in the offspring, but a new signal between alpha- and beta-blockers and multi-cystic renal dysplasia was found. Future large epidemiological studies are needed to confirm...

  1. Epidemiology of Congenital Anomalies in a Population-based Birth Registry in Taiwan, 2002

    Directory of Open Access Journals (Sweden)

    Bing-Yu Chen

    2009-06-01

    Conclusion: The occurrence rates for individual congenital anomalies in Taiwan were reported. Older maternal age was a risk factor for the occurrence of chromosomal and orofacial anomalies. More active prenatal screening and further investigation of causal factors of congenital anomalies are of major importance.

  2. Congenital eye and adneial anomalies in Kano, a 5 year review ...

    African Journals Online (AJOL)

    Background: Knowledge of prevalence and types of congenital eye and adnexial anomalies is important as some of these anomalies can lead to childhood blindness. The aim of the study is to determine the types of congenital eye and adnexial anomalies seen in the eye clinic of Aminu Kano Teaching Hospital Kano, ...

  3. [Survey of quality of life scale for patients with congenital ear malformation].

    Science.gov (United States)

    Ren, Yuan-yuan; Zhao, Shou-qin; Xue, Yu-bin

    2012-01-31

    To explore the congenital ear malformation (CEM)-specific quality of life (QOL) and examine the effects of total ear reconstruction surgery for QOL of CEM patients. A self-composed QOL scale was used for 129 patients with congenital external and middle ear malformation. All patients were requested to fill in the QOL scale before and 1 month after ear reconstruction surgery. The level of QOL varied according to the degree of ear malformation. The total QOL score of patients with unilateral and bilateral CEM was 28.5 ± 18.4 and 51.6 ± 23.6, respectively. The total QOL score of patients pre- and post-operation was 21.0 ± 14.0 and 14.2 ± 9.7 respectively. Physiological functions, psychological status and social interactions of the patients were of statistical significance after ear reconstruction surgery compared to that of at pre-operation. Congenital ear malformation-specific QOL scale can show sensitively the changes of QOL of CEM patients. And ear reconstruction surgery is beneficial for the patients.

  4. [Constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss].

    Science.gov (United States)

    Li, Youjin; Yang, Jun; Li, Yun

    2011-01-01

    To analyze the constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss(SNHL). Imaging and auditory data of 125 cases (225 ears) in 860 pediatric patients with congenital SNHL who referred to ENT department of Shanghai Children Medical Center from February 2005 to January 2010 were retrospectively studied. Congenital malformations of inner ear accounted for 14.5% in 860 pediatric patients with congenital SNHL. Bilateral ear was involved in 98 cases (78.4%), unilateral in 27 cases (21.6%). One hundred and sixty-seven ears (74.2%) were identified as profound deafness, 36 ears (16%) severe deafness and 22 ears (9.8%) moderate deafness in 225 ears, respectively. In present group, large vestibular aqueduct (75.6%) was the most common and next was vestibular deformity (32%), then cochleovestibular deformity (23.1%). Mondini deformity (55.8%) was the most common and common cavity deformity (28.9%) next in cochleovestibular deformity. Profound deafness in cochlea involved congenital malformations of inner ear was significantly more than those in no cochlea involved malformations. The results are of importance for understanding the constitute of congenital malformations of inner ear in pediatric patients with congenital SNHL in China, for etiological diagnosis of congenital SNHL, for intervention including hearing aids or cochlear implant and prognosis.

  5. Congenital vascular anomalies: current perspectives on diagnosis, classification, and management

    Directory of Open Access Journals (Sweden)

    Blei F

    2016-07-01

    Full Text Available Francine Blei,1 Mark E Bittman2 1Vascular Anomalies Program, Lenox Hill Hospital, Northwell Health, 2Department of Radiology, New York University Langone Medical Center, New York, NY, USA Abstract: The term "congenital vascular anomalies" encompasses those vascular lesions present at birth. Many of these lesions may be detected in utero. This review serves to apprise the readership of newly identified diagnoses and updated classification schemes. Attention is focused on clinical features, patterns of presentation, clinical manifestations and behavior, diagnostic tools, and treatment modalities. It is an invigorating period for this field, with a surge in vascular anomalies-related basic and clinical research, genetics, pharmacology, clinical trials, and patient advocacy. A large number of professional conferences now include vascular anomalies in the agenda, and trainees in multiple specialties are gaining expertise in this discipline. We begin with a summary of classification schemes and introduce the updated classification adopted by the International Society for the Study of Vascular Anomalies. Disease entities are described, with liberal use of photographs, as many diagnoses can be established based on a thorough history and visual appearance and it is thus essential to develop a familiarity with diagnosis-specific physical features. Peripheral (non-central nervous system vascular anomalies are the focus of this review. We focus on those entities in which diagnostic radiology is routinely used and accentuate when histologic confirmation is essential. We also underscore some differences in approach to the pediatric vs adolescent or adult patient. A list of Internet-based resources is included, with hyperlinks to informative sites. References are limited to seminal discoveries and review articles. We hope that our enthusiasm in writing this review will be shared by those who read this review. Keywords: vascular anomalies, hemangiomas, vascular

  6. Mondini defect in association with multiple congenital anomalies.

    Science.gov (United States)

    Sekhar, H K; Sachs, M

    1976-01-01

    A case of bilaterally symmetrical genetic aplasia conforming to Mondini type of congenital deformity in a 12-day-old child is presented with the help of temporal bone sections. Cochlear changes include a stunted modiolus, deficient interscalar septum between the middle and upper coils forming a scala communis cochleae, a degenerated organ of Corti and reduced spiral ganglion cells and dendrites. The vestibule is malformed, with membranous labyrinth being deficient. The utricle and semicircular canals are absent. There is no oval window or stapedial footplate, and the facial nerve is hypoplastic. An interesting feature is the unusual association of bilateral bony choanal atresia, atrial septal defect, cleft lip, absence of olfactory bulbs in the brain, and congenital ophthalmic anomalies.

  7. Stillbirth and congenital anomalies in migrants in Europe

    DEFF Research Database (Denmark)

    Andersen, Anne-Marie Nybo; Gundlund, Anna; Villadsen, Sarah Fredsted

    2016-01-01

    The risk of giving birth to a stillborn child or a child with severe congenital anomaly is higher for women who have immigrated to Europe as compared to the majority population in the receiving country. The literature, however, reveals great differences between migrant groups, even within migrants...... from low-income countries, although there is no clear pattern regarding refugee or non-refugee status. This heterogeneity argues against a particular migration-related explanation. There are social disparities in stillbirth risk worldwide, and it has been suggested that the demonstrated ethnic...

  8. CONGENITAL ANOMALY OF KIDNEY AND URETER – A CASE REPORT

    OpenAIRE

    Chavan S K; Diwan C V

    2009-01-01

    Congenital anomalies of urinary tract are of frequent occurrence. These anamolies were found during human cadaveric dissection carried out in the Department of Anatomy, S. R. T. R. Medical College,Ambajogai. In place of right kidney, a small triangular fibrous structure of size 3x2 cm2 with a thread like ureter coursing normally and entering a normal sized urinary bladder was found. The left kidney was larger in size with normally coursing ureter. The right ureter was thinner and did not open...

  9. Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: A hospital based study

    International Nuclear Information System (INIS)

    Sallout, Bahauddin I.; Al-Hoshan, Manal S.; Attyyaa, Rehman A.; Al-Suleimat, Abdelmane A.

    2008-01-01

    The exact antenatal prevalence of congenital anomalies in Saudi society is unknown. Early antenatal diagnosis of congenital anomalies is crucial for early counseling, intervention and possible fetal therapy. The objective of this study was to evaluate the antenatal frequency of major congenital anomalies and malformations patterns in our hospital population and to evaluate the outcome and perinatal mortality rates for major congenital anomalies. This was a prospective study of the antenatal diagnosis of major fetal congenital anomalies conducted in the ultrasound Department of the Women's Specialized Hospital at King Fahd Medical City from for 7762 patients and 5379 babies delivered in our institution. We diagnosed 217 cases of fetal anomalies. The antenatal prevalence of congenital anomalies was 27.96 per 1000. The median maternal age at diagnosis was 27.5 years. Te median gestational age at diagnosis was 31 weeks. Genitourinary and cranial anomalies were the commonest; for 186 patients delivered in our institution, the birth prevalence was 34.57 per 1000 births. The median gestational age at delivery was 38 weeks. The perinatal mortality arte was 34.9% (65/186), including all cases of intrauterine fetal and neonatal deaths. The prevalence of major congenital anomalies in our population appears to be similar to international figures. Major congenital anomalies are a major cause of perinatal mortality. (author)

  10. Association of two respiratory congenital anomalies: tracheal diverticulum and cystic adenomatoid malformation of the lung

    International Nuclear Information System (INIS)

    Restrepo, S.; Villamil, M.A.; Rojas, I.C.; Lemos, D.F.; Echeverri, S.; Angarita, M.; Triana, G.

    2004-01-01

    Many associations of congenital anomalies of the respiratory system have been reported, but the combination of tracheal diverticulum and cystic adenomatoid malformation (CCAM) is unique. We present a patient with these two anomalies and analyze their embryological correlation. (orig.)

  11. Exposure to air pollution and noise from road traffic and risk of congenital anomalies in the Danish National Birth Cohort.

    Science.gov (United States)

    Pedersen, Marie; Garne, Ester; Hansen-Nord, Nete; Hjortebjerg, Dorrit; Ketzel, Matthias; Raaschou-Nielsen, Ole; Nybo Andersen, Anne-Marie; Sørensen, Mette

    2017-11-01

    Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. Among 84,218 liveborn singletons (1997-2002) from the Danish National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO 2 ) and noise from road traffic (L den ) burden during fetal life was modeled. Outcome and covariate data were derived from registries, hospital records and questionnaires. Odds ratios (ORs) for eleven major anomaly groups associated with road traffic pollution during first trimester were estimated using logistic regression with generalized estimating equation (GEE) approach. Most of the associations tested did not suggest increased risks. A 10-µg/m 3 increase in NO 2 exposure during first trimester was associated with an adjusted ORs of 1.22 (95% confidence interval: 0.98-1.52) for ear, face and neck anomalies; 1.14 0.98-1.33) for urinary anomalies. A 10-dB increase in road traffic noise was also associated with these subgroups of anomalies as well as with an increased OR for orofacial cleft anomalies (1.17, 0.94-1.47). Inverse associations for several both air pollution and noise were observed for atrial septal defects (0.85, 0.68-1.04 and 0.81, 0.65-0.99, respectively). Residential road traffic exposure to noise or air pollution during pregnancy did not seem to pose a risk for development of congenital anomalies. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Congenital anomalies of the pulmonary arteries: spectrum of findings on computed tomography.

    Science.gov (United States)

    Bueno, J; Flors, L; Mejía, M

    Congenital anomalies of the pulmonary arteries are uncommon. They can occur in isolation or in association with congenital heart defects. Isolated congenital anomalies remain undiscovered until they are reported as incidental findings on imaging tests, usually not until adolescence. We review the embryological development and normal anatomy of the pulmonary arteries as well as the spectrum of computed tomography findings for various congenital anomalies: unilateral interruption of the pulmonary artery, anomalous origin of the left pulmonary artery (pulmonary artery sling), idiopathic aneurysm of the pulmonary artery, and other anomalies associated with congenital heart defects. Congenital anomalies of the pulmonary arteries represent a diagnostic challenge for clinicians and radiologists. Computed tomography is useful for their diagnosis, and general radiologists need to be familiar with their imaging appearance because they are often discovered incidentally. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

    Science.gov (United States)

    Passias, Peter G; Poorman, Gregory W; Jalai, Cyrus M; Diebo, Bassel G; Vira, Shaleen; Horn, Samantha R; Baker, Joseph F; Shenoy, Kartik; Hasan, Saqib; Buza, John; Bronson, Wesley; Paul, Justin C; Kaye, Ian; Foster, Norah A; Cassilly, Ryan T; Oren, Jonathan H; Moskovich, Ronald; Line, Breton; Oh, Cheongeun; Bess, Shay; LaFage, Virginie; Errico, Thomas J

    2017-10-09

    Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating

  14. [Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations].

    Science.gov (United States)

    Šípek, Antonín; Gregor, Vladimír; Horáček, Jiří; Šípek, Antonín; Langhammer, Pavel

    2013-09-01

    Analysis of the prevalence rates of selected diagnoses of congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of postnatal and total (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. Data on congenital anomalies in general and selected types of congenital anomalies were analyzed for the entire Czech Republic from 1994-2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres in the Czech Republic thanks to voluntary cooperation. This study analyzed postnatal and overall prevalence of congenital anomalies, with the latter including results of positive prenatal diagnosis. More detailed analysis was carried out for the following diagnoses: cystic kidney disease, renal agenesis/hypoplasia, tetralogy of Fallot, large vessel transposition, left heart hypoplasia, aortic coarctation, Down syndrome, Edward syndrome, and Patau syndrome. Cystic kidney disease showed a significant increase in 1999 and 2000, mainly due to postnatally diagnosed cases. This can be explained, on the one hand, by the modification made to the reporting of congenital anomalies in the Czech Republic and, on the other hand, by an earlier and more complete detection of postnatal cases. Since 2000, there has been a significant increase in reported cystic kidney disease as a result of postnatal kidney screening. In 1994-1999, the prevalence rates of this diagnosis ranged from 1.7 to 3.1 per 10,000 live births. Similar trend is seen in the prevalence of renal agenesis/hypoplasia. In the monitored period, prenatally diagnosed cases showed a slight increase while postnatally diagnosed cases showed a considerable rise. In 1994-1999, the

  15. Usefulness of fetal MR imaging for congenital urological anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Akasaka, Yoshinobu; Sugimura, Kazuro [Kobe Univ. (Japan). Graduate School of Medicine; Kanegawa, Kimio [Kobe Children' s Hospital (Japan)

    2002-04-01

    Despite the fact that congenital urological anomalies are not rare, the role of fetal MRI in these disorders has not been well defined. We evaluated the usefulness of MRI in the prenatal diagnosis of patients with such anomalies. A total of 23 cases were included in this study. The 23 cases were divided as follows: 7 cases of bilateral renal agenesis or severe hypogenesis (Potter sequence: PS), 8 cases of multicystic dysplastic kidney (2 cases were bilateral: MCDK), 5 cases of hydronephrosis (HN), one case of hydroureteronephrosis (HUN) and 2 cases of HN or HUN with duplication (DUP). In this study the scan time for fetal MRI was approximately 30 seconds for one sequence. Overall, the diagnostic accuracy was 65.2%; 85.2% for PS, 87.5% for MCDK, 60.0% for HN, 50.0% for HUN and 0% for DUP. Even though imaging quality was relatively poor for motion artifact in this series, we were able to diagnose PS and MCDK because of associated lung hypoplasia and its characteristic shape. The diagnosis of HN, HUN and DUP was difficult. HN was sometimes misdiagnosed as a retroperitoneal cystic mass because the dilation of calices was obscured in severe cases. In HUN and DUP cases dilation of the ureter was unclear. However, using HASTE or true FISP sequence may solve this problem. Based on this data, we conclude that fetal MRI is useful for prenatal diagnosis of urological anomalies. (author)

  16. Genetics of congenital anomalies of the kidney and urinary tract

    Directory of Open Access Journals (Sweden)

    Danuta Zwolińska

    2011-12-01

    Full Text Available Congenital anomalies of the kidney and urinary tract (CAKUT occur at a frequency of 1 in 500 live births and are a common cause of renal insufficiency in childhood. CAKUT encompass a wide spectrum of malformations including anomalies of the kidney, collecting system, bladder and urethra. Most cases of CAKUT are sporadic and limited to the urinary tract, but some of them are syndromic or associated with positive family history. To understand the basis of human renal anomalies, knowledge of kidney and urinary tract development is necessary. This process is very complicated, requires precise integration of a variety of progenitor cell populations of diverse embryonic origins and is controlled by many factors at every stage of development. This review focuses on the genetic factors leading to developmental errors of important morphogenetic processes, particularly in metanephric kidney induction and ureteric bud branching. The essential results of genetic studies in regard to CAKUT, performed on experimental models and in humans, are presented. However, further investigations are required to complete understanding of the complex molecular network, which will help us to determine novel preventive and therapeutic strategies for CAKUT.

  17. The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Addor, Marie-Claude; Arriola, Larraitz

    2015-01-01

    BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general...

  18. Psychological and Behavioral Characteristics of Chromosomal Anomalies and Congenital Contiguous Gene Syndrome

    OpenAIRE

    Sanada, Satoshi; Takahashi, Ayaka; Diez, Higa Midory; Kageyama, Mizuho

    2015-01-01

    Congenital anomalies exert significant impact on individuals and their families, with particularly negative effects on their quality of life. However, studies focusing on the psychological and behavioral characteristics of children with congenital anomalies are still limited, though this information is indispensable for the educational support of such children. In this paper, we reviewed articles dealing with psychological, behavioral and socioemotionalcharacteristics of children with congeni...

  19. Impact of a child with congenital anomalies on parents (ICCAP) questionnaire: A psychometric analysis

    NARCIS (Netherlands)

    Mazer, P.; Gischler, S.J.; Koot, H.M.; Tibboel, D.; van Dijk, M; Duivenvoorden, H.J.

    2008-01-01

    Background: The objective of this study was to validate the Impact of a Child with Congenital Anomalies on Parents (ICCAP) questionnaire. ICCAP was newly designed to assess the impact of giving birth to a child with severe anatomical congenital anomalies (CA) on parental quality of life as a result

  20. Impact of a child with congenital anomalies on parents (ICCAP) questionnaire; a psychometric analysis

    NARCIS (Netherlands)

    P. Mazer (Petra); S.J. Gischler (Saskia); J.M. Koot (Hans); D. Tibboel (Dick); M. van Dijk (Monique); H.J. Duivenvoorden (Hugo)

    2008-01-01

    textabstractBackground: The objective of this study was to validate the Impact of a Child with Congenital Anomalies on Parents (ICCAP) questionnaire. ICCAP was newly designed to assess the impact of giving birth to a child with severe anatomical congenital anomalies (CA) on parental quality of life

  1. Maternal age-associated congenital anomalies among newborns: a retrospective study in Latvia.

    Science.gov (United States)

    Zīle, Irisa; Villeruša, Anita

    2013-01-01

    In Latvia, the mean age of women giving birth increased from 27.3 in 2000 to 29.0 years in 2010 during the last 11 years. The aim of this study was to report on major congenital anomalies of newborns at birth by the maternal age and to compare the mean maternal age by different diagnosis subgroups and maternal and neonatal characteristics. A cross-sectional retrospective study with the data from the Medical Birth Register (2000-2010) was carried out. The live birth prevalence rate was calculated for the subgroups of major congenital anomalies per 10 000 live births by the maternal age. The live birth prevalence rate of major congenital anomalies during the period 2000-2010 was 211.4 per 10 000 live births. The prevalence rate increased depending on the maternal age. Congenital heart defects, limb defects, and urinary system anomalies were the most common anomalies. The study results showed an age-related risk of abdominal wall defects, orofacial clefts, and chromosomal anomalies. There were significantly higher proportions of preterm births, newborns with low birth weight, and complications during pregnancy among mothers aged 35 years and more. The data on congenital anomalies from the Latvian Medical Birth Register can be used for the assessment of epidemiology of congenital anomalies. The results of this retrospective study showed a decrease in the live birth prevalence rate of major congenital anomalies despite an increase in the mean age of mothers in Latvia.

  2. The incidence of apparent congenital urogenital anomalies in North Indian newborns: A study of 20,432 pregnancies

    Directory of Open Access Journals (Sweden)

    A. Bhat

    2016-09-01

    Conclusions: The incidence of apparent congenital urogenital anomalies was 3.91%. Infertility treatment, parity >2 and a maternal age >30 years were independently associated with an increased risk of congenital urogenital anomalies.

  3. Deviant early pregnancy maternal triglyceride levels and increased risk of congenital anomalies: a prospective community-based cohort study

    NARCIS (Netherlands)

    Nederlof, M.; de Walle, H.E.K.; van Poppel, M.N.M.; Vrijkotte, T.G.M.; Gademan, M.G.J.

    2015-01-01

    Objective The maternal lipid profile could be of importance in congenital anomaly development. This study therefore investigates whether the maternal lipid profile during early pregnancy is associated with major nonsyndromic congenital anomalies (MNCA). Design Prospective community-based cohort

  4. Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

    OpenAIRE

    Noor Mohammad Noori; Alireza Teimouri; Tahereh Boryri; Sirous Risbaf Fakour; Fateme Shahramian

    2016-01-01

    Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD) is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to ...

  5. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

    Science.gov (United States)

    Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O’Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

    2018-01-01

    Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. Design, setting and outcome measures EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. Conclusions By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. PMID:28667189

  6. Applications of titanium mesh tubing in external ear canal reconstruction in congenital aural atresia.

    Science.gov (United States)

    Chen, Junming; Liang, Hairong; Wang, Yuejian; Yu, Youjun

    2015-04-01

    The aim of this study was to observe the effect of a titanium tube on external auditory canal reconstruction in congenital aural atresia and to assess the tube's effectiveness in preventing external canal stenosis or atresia after reconstruction. Reconstruction of the external ear canal with a titanium mesh tube was performed in 16 patients (16 ears) with congenital aural atresia at the First People's Hospital of Foshan. The titanium mesh tube was removed 1 year after surgery. The patients were followed up for 2 years (2 ± 0.3 years), and all of the patients had formed a new external ear canal. There was no local infection, granulation tissue, re-stenosis, or atresia in any of the patients after surgery. All of the patients were content with their newly formed external ear canal. Titanium mesh tubing is safe and effective for reconstruction of the external ear canal during surgery for congenital aural atresia.

  7. Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.

    Science.gov (United States)

    Marta, Sara Nader; Kawakami, Roberto Yoshio; Sgavioli, Claudia Almeida Prado Piccino; Correa, Ana Eliza; D'Árk de Oliveira El Kadre, Guaniara; Carvalho, Ricardo Sandri

    2016-08-01

    Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.

  8. Congenital anomalies of the mesonephric duct and fertility.

    Science.gov (United States)

    Tzvetkova, P

    2007-01-01

    Agenesia of deferential duct and the others congenital malformations of mesonephronical duct are often encountering condition in andrological practice. This study presents the possibilities of reproductive medicine to restore the male fertility and concentrates on biological and clinical aspects of malformations of mesonephronic duct like factors for excretory male infertility. The investigations including 104 patients (mean age 30.25+/-1.91 years old) with congenital anomalies of mesonephronical duct with: Agenesia of mesonephronical derivates - case with unilateral agenesia of the deferent duct, kidney and left urether (n=1); Dysgenesia of the epididymis (n=5); Cysts of the epididymis (n=47); Agenesia of the deferential duct (n=48); Aplasia of the eja-culatorial duct (n=3). The following methods were used: open testicular biopsy by Vilar; objective findings in situ operation; bilateral epididymo - and deferentovesiculography; morphological specimens of the testicular and epididymal tissues; enzymohistochemical analysis of testicular specimens; the ejaculates and morphological analysis of spermatozoa were assessed for quality parameters by the standard protocol; enzymocytological research of spermatozoa in seminal fluid; biochemical analysis of seminal fluid fructose and citric acid concentrations; radioimmunoassay for measurements of blood FSH and testosterone concentration. Most often observed localization of the malformations of mesonephronic canal is bilateral at 54.81%. The testicular specimens proved preserved testicular architecture and spermatogenesis, and the epididymal slides showed dilatation of the epididymal tubules, which were overfilled with a lot of spermatozoa. The strongest expression of the enzymichistochemical NADH-TR reactions is in the Sertoli cells. We observed spermatozoa with disrup-ted configuration among which the abnormalities in sperm head and acrosome were predominated. The biochemical analysis of seminal fluid proves normal citric

  9. Tomographic and clinical aspects of the central nervous system anomalies associated to the craniofacial congenital changes

    International Nuclear Information System (INIS)

    Bellucci, Angela Delete.

    1994-01-01

    This work proposes to study people presenting craniofacial congenital anomalies, with or without mental disorders, regardless their association to other anomalies in the body middle line, aiming to verify the central nervous system frequency of concurrence with structural anomalies associated, within the clinic and phenotype spectra of that syndromes. (author). 182 refs., 36 figs

  10. Preoperative diagnosis and surgical strategy in congenital auditory ossicular malformation of 26 ears

    International Nuclear Information System (INIS)

    Kanazawa, Yuji; Naito, Yasushi; Shinohara, Shogo; Fujiwara, Keizo; Kikuchi, Masahiro; Yamazaki, Hiroshi; Kurihara, Risa; Kishimoto, Ippei

    2012-01-01

    We retrospectively analyzed 26 ears of 21 subjects having auditory ossicular malformation and who had undergone auditory reconstruction between April 2004 and December 2010 at our clinic. We checked preoperative condition, pathological classification, surgical procedure, and hearing improvement. We could predict pathological conditions precisely from preoperative computed tomography (CT), including incudostapedial disconnection (9/12, 75%) and malleus and/or incus fixation (7/12, 58%), which tended to be present in external ear malformation, and stapes footplate fixation (0/12, 0%). We could not, however, predict complex malformation (0/8, 0%). Overall success was 90% (18/20) in the 20 ears observed for at least 1 year. In the 2 ears without improved hearing, the first had congenital cholesteatoma and no stapes superstructure, was treated with type IV tympanoplasty. The second had malleus, incus, and stapes fixation and discontinuity between the incus and stapes, and was treated with type III tympanoplasty and stapes mobilization. Preoperative diagnosis is difficult in mixed congenital auditory ossicular malformation, especially stapes footplate fixation, possibly requiring unexpected procedures, with a poor hearing outcome. Preoperative status must thus be evaluated precisely using hearing, tympanometry, acoustic reflex test, and CT. Temporal bone CT and external ear findings are useful in diagnosing middle-ear malformation. Subjects' informed consent should also be obtained due to the possible need for changing procedure based on findings during surgery. (author)

  11. CT and MR imaging of congenital abnormalities of the inner ear and internal auditory canal

    International Nuclear Information System (INIS)

    Casselman, Jan W.; Offeciers, Erwin F.; Foer, Bert de; Govaerts, Paul; Kuhweide, Rudy; Somers, Thomas

    2001-01-01

    The embryology of the inner ear must be known as many of the inner ear malformations present as a result of the arrest during the various stages of embryology. These malformations are described in this 'embryologic' perspective and specific names for certain malformations are no longer used. Both CT and MR can be used to look at inner ear malformations but often both techniques are complementary. However, CT is preferred when associated middle- or external ear malformations must be excluded. Magnetic resonance is preferred when subtle changes in the membranous labyrinth or abnormalities of the nerves in the internal auditory canal must be visualised. The CT and MR technique must however be adapted as more and more subtle congenital malformations can only be seen when the right technique is used. The heavily T2-weighted gradient-echo or fast spin-echo MR techniques are mandatory if malformations of the inner ear must be excluded. The purpose of this paper is to describe the techniques used to study these patients and to give an overview of the most frequent and important congenital malformations which can be found in the inner ear and internal auditory canal/cerebellopontine angle

  12. Prevalence of Congenital Anomalies in an Indian Maternal Cohort: Healthcare, Prevention, and Surveillance Implications.

    Directory of Open Access Journals (Sweden)

    Prajkta Bhide

    Full Text Available India lacks a national birth defects surveillance. Data on the prevalence of congenital anomalies are available mostly from hospital-based, cross-sectional studies. This is the first cohort study from India, where 2107 women were followed till pregnancy outcome, in order to measure the prevalence and types of congenital anomalies, their contribution to neonatal mortality, implications for surveillance, and the health service needs for prevention and management.The study followed a cohort of 2107 pregnant women till outcome which was miscarriage, termination of pregnancy, live or stillbirth, neonatal and post-neonatal mortality. Case ascertainment of congenital anomalies was done through visual examination, followed by various investigations. Rates of congenital anomaly affected births were reported per 10 000 births. Health service needs were described through retrospective analysis of events surrounding the diagnosis of a congenital anomaly.Among 1822 births, the total prevalence of major congenital anomalies was 230.51 (170.99-310.11 per 10 000 births. Congenital heart defects were the most commonly reported anomalies in the cohort with a prevalence of 65.86 (37.72-114.77 per 10 000 births. Although neural tube defects were two and a half times less as compared to congenital heart defects, they were nevertheless significant at a prevalence of 27.44 (11.73-64.08 per 10 000 births. In this cohort, congenital anomalies were the second largest cause of neonatal deaths. The congenital anomaly prenatal diagnosis prevalence was 10.98 per 1000 births and the congenital anomaly termination of pregnancy rate was 4.39 per 1000 births.This first cohort study from India establishes that the congenital anomaly rates were high, affecting one in forty four births in the cohort. The prevalence of congenital anomalies was identical to the stillbirth prevalence in the cohort, highlighting their public health importance. The results of this study identify the

  13. Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

    Directory of Open Access Journals (Sweden)

    S. Liu

    2015-07-01

    Full Text Available Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those in the province of Quebec between April 2002 and March 2013 and their live-born infants with a birth weight of 500 grams or more and/or a gestational age of 22 weeks or more. Pre-pregnancy type 1 or type 2 DM was identified using ICD-10 diagnostic codes. The association between DM and all congenital anomalies as well as specific congenital anomaly categories was estimated using adjusted odds ratios; the impact was calculated as a population attributable risk percent (PAR%. Results: There were 118 892 infants with a congenital anomaly among 2 839 680 live births (41.9 per 1000. While the prevalence of any congenital anomaly declined from 50.7 per 1000 live births in 2002/03 to 41.5 per 1000 in 2012/13, the corresponding PAR% for a congenital anomaly related to pre-pregnancy DM rose from 0.6% (95% confidence interval [CI]: 0.4–0.8 to 1.2% (95% CI: 0.9–1.4. Specifically, the PAR% for congenital cardiovascular defects increased from 2.3% (95% CI: 1.7–2.9 to 4.2% (95% CI: 3.5–4.9 and for gastrointestinal defects from 0.8% (95% CI: 0.2–1.9 to 1.4% (95% CI: 0.7–2.6 over the study period. Conclusion: Although there has been a relative decline in the prevalence of congenital anomalies in Canada, the proportion of congenital anomalies due to maternal prepregnancy DM has increased. Enhancement of preconception care initiatives for women with DM is recommended.

  14. Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

    Science.gov (United States)

    Liu, S.; Rouleau, J.; León, J. A.; Sauve, R.; Joseph, K. S.; Ray, J. G.; System, Canadian Perinatal Surveillance

    2015-01-01

    Abstract Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM) on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those in the province of Quebec) between April 2002 and March 2013 and their live-born infants with a birth weight of 500 grams or more and/or a gestational age of 22 weeks or more. Pre-pregnancy type 1 or type 2 DM was identified using ICD-10 diagnostic codes. The association between DM and all congenital anomalies as well as specific congenital anomaly categories was estimated using adjusted odds ratios; the impact was calculated as a population attributable risk percent (PAR%). Results: There were 118 892 infants with a congenital anomaly among 2 839 680 live births (41.9 per 1000). While the prevalence of any congenital anomaly declined from 50.7 per 1000 live births in 2002/03 to 41.5 per 1000 in 2012/13, the corresponding PAR% for a congenital anomaly related to pre-pregnancy DM rose from 0.6% (95% confidence interval [CI]: 0.4–0.8) to 1.2% (95% CI: 0.9–1.4). Specifically, the PAR% for congenital cardiovascular defects increased from 2.3% (95% CI: 1.7–2.9) to 4.2% (95% CI: 3.5–4.9) and for gastrointestinal defects from 0.8% (95% CI: 0.2–1.9) to 1.4% (95% CI: 0.7–2.6) over the study period. Conclusion: Although there has been a relative decline in the prevalence of congenital anomalies in Canada, the proportion of congenital anomalies due to maternal pre-pregnancy DM has increased. Enhancement of preconception care initiatives for women with DM is recommended. PMID:26186019

  15. [Prevalence of congenitial kidney and urinary tract anomalies in neonates and infants with congenital heart disease].

    Science.gov (United States)

    Czarniak, Piotr; Kosiak, Wojciech; Chojnicki, Maciej; Król, Ewa; Zurowska, Aleksandra

    2006-01-01

    Congenital heart diseases are the most frequent anomalies and one of the most important reasons of mortality and morbidity in neonates and infants. Coincidence of additional malformation aggravates prognosis. The frequency of incidence of other anomalies accompanying congenital hart diseases is defined as 11 to 45%. Estimation of the frequency of a coincidence of congenital kidney anomalies on the basis of the ultrasound examination (US) in children with congenital heart disease in first year of life. Abdominal US were done in 350 neonates and infants hospitalized in Department of Pediatric Cardiology Medical University of Gdansk in the first twenty-four hours after diagnosis of congenital heart disease. Examinations were performed in 187 male (53%) and 163 female (47%) in average age 54.9 days (range from 1 to 349 days). In examined population congenital kidney anomalies were found in 4.9% of children from which 18% represent hipoplasia, and another 18% dysplasia. 15.3% of examined patients were diagnosed by dilatation of collecting system, whereof 3% mild, 7% moderate, and 5% severe degree. 1. The frequency of incidence of kidney anomalies and collecting system dilatation in the examined population of neonates and infants with congenital heart disease accounts for 20.2%. 2. Abdominal ultrasound screening with carefully examination of urinary tract should be performed in neonates and infants with congenital heart disease.

  16. Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies

    Directory of Open Access Journals (Sweden)

    Micol Busi

    2015-01-01

    Full Text Available Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT and magnetic resonance imaging (MRI in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders. Methods. The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests. Results. Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years. Among these, 143 patients (64 females and 79 males presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children ranged from 9 months and 16 years (average = 4.4; median = 3.0. Conclusions. Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities

  17. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing

  18. Midwives' views on appropriate antenatal counselling for congenital anomaly tests: Do they match clients' preferences?

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Spelten, E.R.; Gitsels-van der Wal, J.T.; Dulmen, S. van

    2014-01-01

    OBJECTIVE: this study aims to provide insight into: (a) midwives' views on appropriate antenatal counselling for congenital anomaly tests, and (b) whether these views match clients' preferences regarding antenatal counselling. DESIGN: a comparative (midwives versus clients) questionnaire survey.

  19. Midwives' views on of appropriate antenatal counselling for congenital anomaly tests: do they match clients' preferences?

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Spelten, E.R.; Gitsels-van der Wal, J.T.; Dulmen, S. van

    2014-01-01

    Objective: this study aims to provide insight into: (a) midwives' views on appropriate antenatal counselling for congenital anomaly tests, and (b) whether these views match clients' preferences regarding antenatal counselling. Design: a comparative (midwives versus clients) questionnaire survey.

  20. Decrease of perinatal mortality associated with congenital anomalies after prenatal screening was introduced in the Netherlands

    DEFF Research Database (Denmark)

    Faber, H. H.; Bouman, K.; Walle, H. E. K.

    2015-01-01

    OBJECTIVES: There has been much discussion about the relatively high perinatal mortality seen in the Netherlands (Buitendijk 2004, Europeristat 2009), for which congenital anomalies (CA) are known to be one of the four main risk factors. There was no nationwide routine prenatal screening for CA...... the European Surveillance of Congenital Anomalies (EUROCAT) database covering the period 1998 to 2011. We included registries that had correctly coded the date of death for more than 80% of their cases. Perinatal mortality was defined as: deaths in the first week after birth plus late foetal deaths...... in the northern Netherlands was on the same level as the rest of Europe. Our data also showed that, since the introduction of prenatal screening, more parents have chosen to terminate a pregnancy if congenital anomalies are discovered. CONCLUSIONS: Perinatal mortality associated with congenital anomaly (CA) has...

  1. The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs

    DEFF Research Database (Denmark)

    de Jong, Josta; Garne, Ester; de Jong-van den Berg, Lolkje T.W.

    2016-01-01

    AEDs (lamotrigine, topiramate, levetiracetam, gabapentin, oxcarbazepine, eslicarbazepine, felbamate, lacosamide, pregabalin, retigabine, rufinamide, stiripentol, tiagabine, vigabatrin, and zonisamide) and specific congenital anomalies. METHODS: We searched PubMed and EMBASE to find observational...

  2. Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

    2017-12-15

    Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

  3. Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

    International Nuclear Information System (INIS)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Mehta, Nimisha

    2017-01-01

    Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

  4. Human exposure to environmental contaminants and congenital anomalies: a critical review.

    Science.gov (United States)

    Foster, Warren G; Evans, Jane A; Little, Julian; Arbour, Laura; Moore, Aideen; Sauve, Reg; Andrés León, Juan; Luo, Wei

    2017-01-01

    Congenital anomalies are an important cause of infant mortality and disability. Developmental exposure to environmental contaminants is thought to increase the risk for congenital anomalies. Herein, we describe a critical review of the literature conducted between February and March 2014 yielding 3057 references from which 97 unique relevant articles published from 2003 through 2014 were evaluated. Common congenital anomalies including hypospadias, cryptorchidism, anogenital distance (AGD), congenital heart defects and oral clefts were well represented in the literature whereas other outcomes such as neural tube defects, limb deficiency defects and gastroschisis were rarely described. While definitions used for congenital anomalies and methods of ascertainment were usually consistent across studies, inconsistencies were frequently found in grouping of different congenital heart defects. Despite strong links between some congenital anomalies and parental occupation, these studies are unable to provide clear insight into the specific chemicals responsible owing to lack of direct measures of exposure. In comparison, data are mixed for contaminant exposures at concentrations representative of results from contemporary biomonitoring studies. Of the environmental contaminants studied, the association between phthalate exposures and developmental abnormalities of the male reproductive tract received the greatest attention. Important limitations of the literature studied relate to adequacy of sample size, absence of or weaknesses in exposure assessment methodologies, failure to account for biological plausibility and grouping of congenital anomalies with divergent mechanisms. We conclude that the literature is inadequate at this time to support a conclusion that exposure to environmental contaminants are or are not associated with increased risks for congenital anomalies in the general population.

  5. Congenital Anomaly of the Atlas Misdiagnosed as Posterior Arch Fracture of the Atlas and Atlantoaxial Subluxation

    Science.gov (United States)

    Park, Yung; Kim, Seong Min; Lee, Yun Tae; Yoo, Ju Hyung; Oh, Hyun Chul; Sung, Seung Yong; Yoon, Han Kook; Chang, Jee-Hoon; Jung, Jeung-Yeul

    2014-01-01

    Partial or complete absence of the posterior arch of the atlas is a well-documented anomaly but a relatively rare condition. This condition is usually asymptomatic so most are diagnosed incidentally. There have been a few documented cases of congenital defects of the posterior arch of the atlas combined with atlantoaxial subluxation. We report a very rare case of congenital anomaly of the atlas combined with atlantoaxial subluxation, that can be misdiagnosed as posterior arch fracture. PMID:24605195

  6. Common congenital anomalies: Environmental causes and prevention with folic acid containing multivitamins.

    Science.gov (United States)

    Sarmah, Swapnalee; Muralidharan, Pooja; Marrs, James A

    2016-09-01

    Congenital anomalies, congenital defects, or birth defects are significant causes of death in infants. The most common congenital defects are congenital heart defects (CHDs) and neural tube defects (NTDs). Defects induced by genetic mutations, environmental exposure to toxins, or a combination of these effects can result in congenital malformations, leading to infant death or long-term disabilities. These defects produce significant mortality and morbidity in the affected individuals, and families are affected emotional and financially. Also, society is impacted on many levels. Congenital anomalies may be reduced by dietary supplements of folic acid and other vitamins. Here, we review the evidence for specific roles of toxins (alcohol, cigarette smoke) in causing common severe congenital anomalies like CHDs, NTDs, and ocular defects. We also review the evidence for beneficial effects for dietary supplementation, and highlight gaps in our knowledge, where research may contribute to additional benefits of intervention that can reduce birth defects. Extensive discussion of common severe congenital anomalies (CHDs, NTDs, and ocular defects) illustrates the effects of diet on the frequency and severity of these defects. Birth Defects Research (Part C) 108:274-286, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. HYGIENIC SUPPORT FOR THE REGIONAL MODEL OF CONGENITAL ANOMALIES MONITORING IN KUZBASS

    Directory of Open Access Journals (Sweden)

    Анна Владимировна Бачина

    2017-03-01

    Conclusions. Regional monitoring of CA should be based on hygienic diagnosis of the congenital congenital anomalies formation regularities in conditions of anthropo-technogenic pollution and establish the evidence-based cause-effect links, mathematical modeling and prognosis through the interagency cooperation.

  8. Prosthetic Reconstruction for a Child with a Congenital Bilateral Ear Deformity: Case Report

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Mardani

    2015-09-01

    Full Text Available Objectives: Microtia is the most commonly seen congenital ear defect, and involves an auricular deformity either unilaterally or bilaterally. The aim of this study was to fabricate silicone prostheses for a child with bilateral microtia using an innovative technique. Methods: This method involved the construction of bilateral ear prostheses using clips, which were located within the layers of the silicone superstructure.  Results: Surgical reconstruction was not indicated due to the patient’s age; so prosthetic reconstruction was advised in this case. Discussion: Two prosthetic ears were manufactured, with one being attached using an adhesive method and the other by a self suspension method. The child and his parents were very satisfied by the cosmetic and aesthetic appearance of the prostheses fitted. This technique has been proven to be suitable for pediatric patients with microtia.

  9. Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Loane, Maria

    2011-01-01

    Surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple congenital...

  10. Congenital Zika Syndrome: Characterizing the Pattern of Anomalies for Pediatric Healthcare Providers

    Science.gov (United States)

    Moore, Cynthia A.; Staples, J. Erin; Dobyns, William B.; Pessoa, André; Ventura, Camila V.; da Fonseca, Eduardo Borges; Ribeiro, Erlane Marques; Ventura, Liana O.; Neto, Norberto Nogueira; Arena, J. Fernando; Rasmussen, Sonja A.

    2017-01-01

    Importance Zika virus infection can be passed prenatally from a pregnant woman to her fetus. There is sufficient evidence to conclude that intrauterine Zika virus infection is a cause of microcephaly and serious brain anomalies, but the full spectrum of anomalies has not been delineated. To inform pediatric healthcare providers who may be called upon to evaluate and manage affected infants and children, we review the most recent evidence to better characterize congenital Zika syndrome. Observations We reviewed published reports of congenital anomalies occurring in fetuses or infants with presumed or laboratory-confirmed intrauterine Zika virus infection. Congenital anomalies were considered in the context of the presumed pathogenetic mechanism related to the neurotropic properties of the virus. We conclude that congenital Zika syndrome is a recognizable pattern of structural anomalies and functional disabilities secondary to central and perhaps peripheral nervous system damage. Although many of the components of this syndrome such as cognitive, sensory and motor disabilities are shared by other congenital infections, there are five features that are rarely seen with other congenital infections or are unique to congenital Zika virus infection: severe microcephaly with partially collapsed skull; thin cerebral cortices with subcortical calcifications; macular scarring and focal pigmentary retinal mottling; congenital contractures; and marked early hypertonia and symptoms of extrapyramidal involvement. Conclusions and Relevance Although the full spectrum of adverse reproductive outcomes caused by Zika virus infection is not yet determined, a distinctive phenotype, the congenital Zika syndrome, has emerged. Recognition of this phenotype by healthcare providers for infants and children can help ensure appropriate etiologic evaluation as well as comprehensive clinical investigation to define the range of anomalies in an affected infant and determine essential follow

  11. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.

    Science.gov (United States)

    Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

    2018-01-01

    To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status. According to WHO, 17%-42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. Congenital anomalies in children with cerebral palsy: a population-based record linkage study

    DEFF Research Database (Denmark)

    Rankin, Judith; Cans, Christine; Garne, Ester

    2009-01-01

    with ataxic CP (41.7%) and lowest in those with dyskinetic CP (2.1%). Cerebral anomalies were found in 8.4% and 7% of children with bilateral and unilateral spastic CP respectively. The most frequent cerebral anomalies were primary microcephaly (26.5%) and congenital hydrocephalus (17.3%). The most common non...

  13. Cystic cochleovestibular anomaly presenting with congenital deafness and recurrent bacterial meningitis in childhood

    Directory of Open Access Journals (Sweden)

    Girish Baburao Kulkarni

    2013-01-01

    Full Text Available Recurrent bacterial meningitis (RBM in many instances is associated with identifiable anatomical defects. Presence of congenital deafness with recurrent meningitis should alert clinician for presence of middle and inner ear malformation. These defects can be demonstrated by various neuro imaging techniques and can be surgically corrected. In this case report we describe a child seen at our institute with congenital deafness and recurrent meningitis, discuss the approach to RBM and briefly describe inner ear malformation associated with the same and how to differentiate them.

  14. An embryological point of view on associated congenital anomalies of children with Hirschsprung disease.

    Science.gov (United States)

    Slavikova, T; Zabojnikova, L; Babala, J; Varga, I

    2015-01-01

    The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed  the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75).

  15. Congenital thoracic vascular anomalies: evaluation with state-of-the-art MR imaging and MDCT.

    Science.gov (United States)

    Hellinger, Jeffrey C; Daubert, Melissa; Lee, Edward Y; Epelman, Monica

    2011-09-01

    Congenital thoracic vascular anomalies include embryologic developmental disorders of the thoracic aorta, aortic arch branch arteries, pulmonary arteries, thoracic systemic veins, and pulmonary veins. Diagnostic evaluation of these anomalies in pediatric patients has evolved with innovations in diagnostic imaging technology. State-of-the-art magnetic resonance (MR) imaging, MR angiography multidetector-row computed tomographic (MDCT) angiography, and advanced postprocessing visualization techniques offer accurate and reliable high-resolution two-dimensional and three-dimensional noninvasive anatomic displays for interpretation and clinical management of congenital thoracic vascular anomalies. This article reviews vascular MR imaging, MR angiography, MDCT angiography, and advanced visualization techniques and applications for the assessment of congenital thoracic vascular anomalies, emphasizing clinical embryology and the characteristic imaging findings. Copyright © 2011 Elsevier Inc. All rights reserved.

  16. Three dimensional and high resolution magnetic resonance imaging of the inner ear. Normal ears and anomaly scanned with 3D-CISS sequence

    Energy Technology Data Exchange (ETDEWEB)

    Edamatsu, Hideo [Dokkyo Univ., Saitama (Japan). Koshigaya Hospital; Uechi, Yoko; Honjyo, Shiro; Yamashita, Koichi; Tonami, Hisao

    1997-12-01

    The MRI system used in this study was a new scanning sequence, 3D-CISS (Three dimensional-constructive interference in steady state) with 1.5 Tesla. Ten normal ears and one ear with Mondini type anomaly were scanned and reconstructed. In imagings of normal inner ears, the cochlea has three spiral layers; basal, middle and apical turns. Each turn was separated into three parts; the scala vestibuli, osseous spiral lamina and scala tympani. Three semicircular ducts, utricle and saccule were also reconstructed in one frame. In the inner ear of Mondini anomaly, 3D MRI showed cochlear aplasia, hypoplasia of semicircular ducts and widely dilated vestibule. The imaging was identical with findings of ``common cavity``. The anomaly was easily recognized in 3D MRI more than in 2D imagings. The detailed and cubic imagings of the Mondini anomaly in 3D MRI could not be observed with conventional 2D MRI. 3D MRI is not invasive method and can scan a target very quickly. (author)

  17. Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

    Energy Technology Data Exchange (ETDEWEB)

    Dong, Su-Zhen; Zhu, Ming [Shanghai Jiaotong University School of Medicine, Department of Radiology, Shanghai Children' s Medical Center, Shanghai (China)

    2015-05-01

    Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

  18. Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers

    DEFF Research Database (Denmark)

    de Jonge, Linda; Garne, Ester; Gini, Rosa

    2015-01-01

    INTRODUCTION: Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription....... Information on anti-epileptic drugs and insulins and analogue medicine use recorded by CA registries was of good quality. For selective serotonin reuptake inhibitors, anti-asthmatics, antibacterials for systemic use, and gonadotropins and other ovulation stimulants, the recorded information was less complete...... databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies. METHODS: We linked data from primary care and prescription databases to five European Surveillance...

  19. Distribution of congenital anomalies in a neonatal intensive care unit in Turkey.

    Science.gov (United States)

    Dursun, Arzu; Zenciroglu, Ayşegul; Hakan, Nilay; Karadag, Nilgun; Karagol, Belma Saygili; Aydin, Banu; Dilli, Dilek; Okumus, Nurullah; Beken, Serdar

    2014-07-01

    Congenital anomalies are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to determine the incidence, distribution and the mortality of the congenital anomalies in a single neonatal intensive care unit (NICU) from Turkey. A retrospective analysis was performed between 2005 and 2012 in NICU using a computerized database. Variables including the type of anomaly, antenatal and postnatal history, gestational age, birth weight, consanguinity and other demographic, clinical and related laboratory variables were extracted from the computerized database using ICD-10 codes. Congenital anomalies were classified according to involved organ systems and also classified as single and multiple anomalies. A total of 1024 newborns with congenital anomaly (CA) (13.7%) were identified among the 7450 hospitalized newborns in NICU. The most affected system was the cardiovascular system (68.8%). Most of the anomalies (67.1%) were single anomalies. Of all, 59.4% had single major, 7.7% had single minor, 9% had single major plus single minor, 18.4% had multiple major and 2% had multiple minor anomalies. On the other hand, 96.3, 1.9, 0.1 and 1.7% of the newborns had malformation, deformation, disruption and dysplasia, respectively. Chromosomal analysis was only performed 24.8% of the newborns with CA and among them, 65.3% of these were in normal limits. The most frequently detected chromosomal abnormality was trisomy 21. Overall, mortality rate was 15.5% among the newborns with CA. In conclusion, the most common and mortal CA was cardio-vascular malformations in our hospital. The overall prevalence of cardio-vascular malformations among the newborn was higher than previously reported studies in Turkey. Further, studies with larger sample size are needed to determine CA in Turkey.

  20. Congenital anomalies in black South African liveborn neonates at ...

    African Journals Online (AJOL)

    trisomy 13 (0,12 per 1 000 livebirths), and a single translocation trisomy 13 (0,06 per 1 OOOlivebirths). Septation defects were the most frequent cardiovascular anomalies (Table IV) and undescended testes and hypospadias the commonest urogenital anomalies (Table VI). The incidence of cleft lip/palate was only 0,23 per ...

  1. Congenital anomalies of coronary arteries. 64 channels multislice CT findings

    International Nuclear Information System (INIS)

    Rodriguez Gomez, Maria Liliana; Bernal Hernandez, Hugo Alejandro

    2007-01-01

    Coronary artery anomalies are rare but can be an important cause of chest pain, myocardial ischemia and sudden death. The identification of this anomalies remains of great importance to decide patient's treatment. For many years, conventional angiography has been employed as method to diagnose these anomalies. However, due to its high cost and low availability and the invasive nature, its use is limited. Electrocardiographically (ECG) gated 64 detector row computed tomography (CT) has been developed lately and this technique allows accurate depiction of coronary arteries with great spatial resolution. It seems to become the perfect choice to evaluate this pathology. Familiarity with the CT appearances of various coronary artery anomalies and an understanding of the clinical significance is very important in making a correct diagnosis. We describe the ECG gated 64 detector row CT appearances of anatomy, dominance and some coronary artery anomalies

  2. Congenital anomalies of the eye and adnexae in Edo State, Nigeria.

    Science.gov (United States)

    Osahon, A I; Dawodu, O A; Ideh, V C U

    2006-09-01

    Congenital ocular anomalies are the result of defective development of the ocular tissues during intrauterine life. The aim of this study was to increase awareness amongst Ophthalmologists and other healthcare providers on some cogenital ocular anomalies seen in clinical practice. The 5 cases presented in this study were cases seen during our routine clinics at the University of Benin Teaching Hospital, Benin City, Edo State and Irrua Specialist Teaching Hospital, Edo State. Informed consent was obtained from the patients regarding the study and the illustrative photographs displayed in the study. Case reports of various congenital anomalies involving the eye and adnexae in Edo State, Nigeria seen over a 1-year period are presented. The first 2 cases were cases of clinical anophthalmos/micophthalmos. The causative factor in one of them was presumably maternal drug (traditional medicine) ingestion for a period of 5 months during pregnancy. The others were cases of dermoid cyst, congenital lid eversion and congenital corneal opacities. The literature on congenital anomalies of the eye and adnexae is briefly reviewed.

  3. Prevalence Rate of Congenital Anomaly of Male Newborn in Fasa Hospital

    Directory of Open Access Journals (Sweden)

    Seyed Mohsen Hesami

    2011-12-01

    Full Text Available Background & Objectives: Congenital anomalies of external genitalia are one of the most frequently congenital anomalies especially in the boys neonates, that in many cases no definite cause was found for them. Because of having basic knowledge will help our for early diagnosis planning, early treatment and decreasing psycho-social problems of these patients and their parents, we decided to carry out this study to survey of congenital anomalies of external genitalia among boy neonates born in valiasr hospital-Fasa and additionally to compare our findings with other studies in other cities of Iran. Materials & Methods: This study is a descriptive, cross sectional study, that was done with all of neonates who were born from October until March 2011 in valiasr hospital-Fasa .Sample was examined by pediatrician for general and external genitalia assessment. Neonates with reproductive disease reassessed by urologist physician and paraclinical assessment were done if it was necessary. Impalpable one or both testes in scrotum defied as undescended testis. Having hydrocele and hernia was confirmed by physical exam and sonography. Results: During the study 885 recently born boy neonate were assessed. Among participants 58 boys (%6.5 have congenital anomalies of external genitalia.Hydrocele was the most frequent anomaly that was seen in 25 boy neonates(%2.8.The second anomaly was undescended testis that was observed in 19 boy neonates.(%2.1.Then hypospadias in 11 neonates(%1.2 and inguinal hernia in 3 neonates(%0.4 were seen. Conclusion: This study showed that hydrocele ,undescended testis ,hypospadias and inguinal hernia are orderly the most frequent congenital anomalies of external genitalia in recently born neonates in Fasa.

  4. Non-occupational exposure to paint fumes during pregnancy and risk of congenital anomalies

    DEFF Research Database (Denmark)

    Hjortebjerg, Dorrit; Andersen, Anne-Marie Nybo; Garne, Ester

    2012-01-01

    Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population.......Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population....

  5. Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies.

    Science.gov (United States)

    Loane, Maria; Dolk, Helen; Garne, Ester; Greenlees, Ruth

    2011-03-01

    The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for fetal anomaly. EUROCAT's policy is to strive for high-quality data, while ensuring consistency and transparency across all member registries. A set of 30 data quality indicators (DQIs) was developed to assess five key elements of data quality: completeness of case ascertainment, accuracy of diagnosis, completeness of information on EUROCAT variables, timeliness of data transmission, and availability of population denominator information. This article describes each of the individual DQIs and presents the output for each registry as well as the EUROCAT (unweighted) average, for 29 full member registries for 2004-2008. This information is also available on the EUROCAT website for previous years. The EUROCAT DQIs allow registries to evaluate their performance in relation to other registries and allows appropriate interpretations to be made of the data collected. The DQIs provide direction for improving data collection and ascertainment, and they allow annual assessment for monitoring continuous improvement. The DQI are constantly reviewed and refined to best document registry procedures and processes regarding data collection, to ensure appropriateness of DQI, and to ensure transparency so that the data collected can make a substantial and useful contribution to epidemiologic research on congenital anomalies. Copyright © 2011 Wiley-Liss, Inc.

  6. Deviant early pregnancy maternal triglyceride levels and increased risk of congenital anomalies : a prospective community-based cohort study

    NARCIS (Netherlands)

    Nederlof, M.; de Walle, H. E. K.; van Poppel, M. N. M.; Vrijkotte, T. G. M.; Gademan, M. G. J.

    ObjectiveThe maternal lipid profile could be of importance in congenital anomaly development. This study therefore investigates whether the maternal lipid profile during early pregnancy is associated with major nonsyndromic congenital anomalies (MNCA). DesignProspective community-based cohort study.

  7. The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance : a descriptive study

    NARCIS (Netherlands)

    Meijer, Willemijn M.; Cornel, Martina C.; Dolk, Helen; de Walle, Hermien E. K.; Armstrong, Nicola C.; de Jong-van den Berg, Lolkje T. W.

    Background European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe surveying more than I million births per year, or 25% of the births in the European Union. This paper describes the potential of the EUROCAT collaboration for

  8. A study of associated congenital anomalies with biliary atresia

    Science.gov (United States)

    Gupta, Lucky; Bhatnagar, Veereshwar

    2016-01-01

    Background/Purpose: This study aims to analyze the incidence and type of various associated anomalies among infants with extrahepatic biliary atresia (EHBA), compare their frequency with those quoted in the existing literature and assess their role in the overall management. Materials and Methods: A retrospective study was performed on 137 infants who underwent the Kasai procedure for EHBA during the past 12 years. The medical records were reviewed for the incidence and type of associated anomalies in addition to the details of the management of the EHBA. Results: Of the137 infants, 40 (29.2%) were diagnosed as having 58 anomalies. The majority of patients had presented in the 3rd month of life; mean age was 81 ± 33 days (range = 20-150 days). There were 32 males and 8 females; boys with EHBA had a higher incidence of associated anomalies. Of these 40 patients, 22 (37.9%) had vascular anomalies, 13 patients (22.4%) had hernias (umbilical-10, inguinal-3), 7 patients (12.1%) had intestinal malrotation, 4 patients (6.8%) had choledochal cyst, 1 patient (1.7%) had Meckel's diverticulum, 3 patients (5%) had undergone prior treatment for jejunoileal atresias (jejunal-2, ileal-1), 2 patients (3.4%) had undergone prior treatment for esophageal atresia and tracheoesophageal fistula, 2 patients (3.4%) had spleniculi, and 2 patients (3.4%) were diagnosed as having situs inversus. Conclusions: The most common associated anomalies in our study were related to the vascular variation at the porta hepatis and the digestive system. The existence of anomalies in distantly developing anatomic regions in patients with EHBA supports the possibility of a “generalized” insult during embryogenesis rather than a “localized” defect. In addition, male infants were observed to have significantly more associated anomalies as compared with the female infants in contrast to earlier reports. PMID:26862288

  9. [Kabuki syndrome, a congenital syndrome with multiple anomalies

    NARCIS (Netherlands)

    Biggelaar, A.M. den; Kuijpers-Jagtman, A.M.; Berge, S.J.; Katsaros, C.

    2006-01-01

    The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is

  10. Urogenital tract anomalies in children with congenital anorectal malformation

    NARCIS (Netherlands)

    J.W. Hoekstra

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find

  11. Congenital anomalies: Prospective study of pattern and associated ...

    African Journals Online (AJOL)

    Conclusion: More of younger mothers were affected with gastro intestinal malformations predominating. The location of home environment is a potential risk factor that will require further characterisation. Key words: Congenital disorder, Malformations, Birth defects, Risk factors, Epidemiology, Nigeria, Anambra ...

  12. Outcome of assisted reproduction in women with congenital uterine anomalies: a prospective observational study.

    Science.gov (United States)

    Prior, M; Richardson, A; Asif, S; Polanski, L; Parris-Larkin, M; Chandler, J; Fogg, L; Jassal, P; Thornton, J G; Raine-Fenning, N J

    2018-01-01

    To assess the prevalence of congenital uterine anomalies, including arcuate uterus, and their effect on reproductive outcome in subfertile women undergoing assisted reproduction. Consecutive women referred for subfertility between May 2009 and November 2015 who underwent assisted reproduction were included in the study. As part of the initial assessment, each woman underwent three-dimensional transvaginal sonography. Uterine morphology was classified using the modified American Fertility Society (AFS) classification of congenital uterine anomalies proposed by Salim et al. If the external contour of the uterus was uniformly convex or had an indentation of Reproductive outcomes, including live birth, clinical pregnancy and preterm birth, were compared between women with a normal uterus and those with a congenital uterine anomaly. Subgroup analysis by type of uterine morphology and logistic regression analysis adjusted for age, body mass index, levels of anti-Müllerian hormone, antral follicle count and number and day of embryo transfer were performed. A total of 2375 women were included in the study, of whom 1943 (81.8%) had a normal uterus and 432 (18.2%) had a congenital uterine anomaly. The most common anomalies were arcuate (n = 387 (16.3%)) and subseptate (n = 16 (0.7%)) uterus. The rate of live birth was similar between women with a uterine anomaly and those with a normal uterus (35% vs 37%; P = 0.47). The rates of clinical pregnancy, mode of delivery and sex of the newborn were also similar between the two groups. Preterm birth before 37 weeks' gestation was more common in women with uterine anomalies than in controls (22% vs 14%, respectively; P = 0.03). Subgroup analysis by type of anomaly showed no difference in the incidence of live birth and clinical pregnancy for women with an arcuate uterus, but indicated worse pregnancy outcome in women with other major anomalies (P = 0.042 and 0.048, respectively). Congenital uterine anomalies as a whole, when

  13. The Study of Congenital Anomalies Resulting in Legal Termination of Pregnancy in Iran

    Directory of Open Access Journals (Sweden)

    Saeid Dastgiri

    2015-08-01

    Full Text Available Background and objectives : Safe pregnancy is among the goals and missions of reproductive health which has an important part in Millennium Development Goals. Unfortunately, bad conditions in reproductive health are the major cause of women mortality in fertility age all over the world especially in developing countries. Congenital anomalies are pregnancy problems that in case of early diagnosis, the anomaly will be done according to list 51. The aim of this study was to determine families’ demographic situations, frequency of congenital anomalies types and the factors of legally termination of pregnancy to suggest solutions in order to reduce anomalies and promote reproductive health. Material and Methods : This is a case-control study carried out for 1 year period from 2010 to 2011 in which 603 pregnant women that were diagnosed/recommended to the Legal Medicine Organization for the termination of pregnancy as having a fetus with some types of birth defect(s. Among them, 201 were categorized as case group (receiving termination permission because their pregnancy was before week 20 and 402 of them were categorized as control group 1 (not receiving termination permission because their pregnancy was after week 20 and 200 women as control group 2 who referred to Alzahra hospital to give childbirth. A questionnaire containing demographic and geographical information was made for all the women in those three groups. Results : The average age of mothers in this study was 27.2 years (15-47 years old. In 100 % of women, at least 1 ultrasound examination was performed and genetic and Amniocentesis tests were conducted in 2.1 % and 3.5 % respectively in order to diagnose anomaly. In total, 33 % of pregnant women with congenital anomalies received pregnancy termination permission. The majority of congenital anomalies were neural tube defects 16.9 %, hydrocephaly 8.6 %, limb deformation 7.7 % and Down syndrome 6.4 %. Mother’s age, the history of

  14. Prenatal exposure to serotonin reuptake inhibitors and congenital heart anomalies : An exploratory pharmacogenetics study

    NARCIS (Netherlands)

    Daud, Aizati N A; Bergman, Jorieke E H; Kerstjens-Frederikse, Wilhelmina S; van der Vlies, Pieter; Hak, Eelko; Berger, Rolf M F; Groen, Henk; Wilffert, Bob

    2017-01-01

    Aim: To explore the role of pharmacogenetics in determining the risk of congenital heart anomalies (CHA) with prenatal use of serotonin reuptake inhibitors.  Methods: We included 33 case-mother dyads and 2 mother-only (child deceased) cases of CHA in a case-only study. Ten genes important in

  15. Pelvic Venous Variations in Patients with Congenital Inferior Vena Cava Anomalies: Classification with Computed Tomography

    International Nuclear Information System (INIS)

    Morita, S.; Higuchi, M.; Saito, N.; Mitsuhashi, N.

    2007-01-01

    Background: Pelvic venous variations of congenital inferior vena cava (IVC) anomalies that have the potential to cause problems during related surgery and interventional radiology are not fully appreciated. Purpose: To classify pelvic venous variations of congenital IVC anomalies using computed tomography (CT). Material and Methods: CT images for 36 patients with congenital IVC anomalies were retrospectively reviewed. Pelvic venous variations were classified with regard to the relationship with the iliac veins and the presence of interiliac communication. Results: Pelvic venous variations were classified into eight types. One azygous continuation displayed normal connection with the bilateral common iliac veins (CIV) (type 1). Of 28 double IVCs, 11 (39.3%) displayed no interiliac communication (type 2a), five (17.9%) displayed interiliac communication from the left CIV (type 2b), one (3.6%) had communication from the right CIV (type 2c), six (21.4%) had communication from the left internal iliac vein (IIV) (type 2d), and five (17.9%) had communication from the right IIV (type 2e). Six left IVCs displayed symmetrical-to-normal connection with the bilateral CIV (type 3). One absence of infrarenal IVC displayed no connection with the CIV (type 4). Conclusion: Eight types of pelvic venous variations of congenital IVC anomalies were classified using CT

  16. Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

    DEFF Research Database (Denmark)

    Dolk, Helen; Wang, Hao; Loane, Maria

    2016-01-01

    OBJECTIVE: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA). METHODS: This was a population-based case-malformed control study based on 21 EUROCAT CA registries coveri...

  17. Risk factors for congenital anomalies in high risk pregnant women: A ...

    African Journals Online (AJOL)

    Tella Sunitha

    2016-05-14

    May 14, 2016 ... Abstract Background: High Risk Pregnancy (HRP) is a condition where mother or developing fetus or both are at increased risk of complications during or after pregnancy and birth. There are no studies so far which have characterized congenital anomalies (CAs) in HRP women with dif- ferent previous ...

  18. Use of hierarchical models to analyze European trends in congenital anomaly prevalence

    DEFF Research Database (Denmark)

    Cavadino, Alana; Prieto-Merino, David; Addor, Marie-Claude

    2016-01-01

    that combine information from several subgroups simultaneously would enhance current surveillance methods using data collected by EUROCAT, a European network of population-based congenital anomaly registries. METHODS: Ten-year trends (2003 to 2012) in 18 EUROCAT registries over 11 countries were analyzed...

  19. Congenital anomalies in children with cerebral palsy: a population-based record linkage study

    DEFF Research Database (Denmark)

    Rankin, Judith; Cans, Christine; Garne, Ester

    2010-01-01

    Our aim was to determine the proportion of children with cerebral palsy (CP) who have a congenital anomaly (CA) in three regions (Isère Region, French Alps; Funen County, Denmark; Northern Region, England) where population-based CP and CA registries exist, and to classify the children according t...

  20. Insulin analogues in pregnancy and specific congenital anomalies; a literature review

    NARCIS (Netherlands)

    de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa; Morgan, Margery; de Jong-van den Berg, Lolkje T W; Wang, Hao

    2016-01-01

    BACKGROUND: Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. METHODS: We performed a literature search for

  1. Contribution of Congenital Anomalies to Preterm Birth Risk in the Netherlands: poster presentation

    NARCIS (Netherlands)

    Mohangoo1, A.; Lanting, C.; Bennebroek Gravenhorst, J.; Verloove-Vanhorick, P.; Buitendijk, S.

    2010-01-01

    Objective: To asses the extents to which congenital anomalies affect risk of preterm birth. Methods: For the present study, we analysed data on 1,972,058 newborns registered in the Netherlands Perinatal Registry database (inclusion criteria 16 weeks of gestation). Logistic regression techniques were

  2. The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs : A Literature Review

    NARCIS (Netherlands)

    de Jong, Josta; Garne, Ester; Jong-van den Berg, de Lolkje; Wang, Hao

    BACKGROUND: More information is needed about possible associations between the newer anti-epileptic drugs (AEDs) in the first trimester of pregnancy and specific congenital anomalies of the fetus. OBJECTIVES: We performed a literature review to find signals for potential associations between newer

  3. Lumbar Disc Herniation in a Patient With Congenital Vertebral Body Anomaly: A Case Report

    Science.gov (United States)

    Atabey, Cem; Topuz, Ali Kivanc; Velioğlu, Murat; Demircan, Mehmet Nusret

    2014-01-01

    Lumbar disc herniation is characterized with low back and leg pain resulting from the degenerated lumbar disc compressing the spinal nerve root. The etiology of degenerative spine is related to age, smoking, microtrauma, obesity, disorders of familial collagen structure, occupational and sports-related physical activity. However, disc herniations induced by congenital lumbar vertebral anomalies are rarely seen. Vertebral fusion defect is one of the causes of congenital anomalies. The pathogenesis of embryological corpus vertebral fusion anomaly is not fully known. In this paper, a 30-year-old patient who had the complaints of low back and right leg pain after falling from a height is presented. She had right L5-S1 disc herniation that had developed on the basis of S1 vertebra corpus fusion anomaly in Lumbar computed tomography. This case has been discussed in the light of literature based on evaluations of Lumbar Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). This case is unique in that it is the first case with development of lumbar disc herniation associated with S1 vertebral corpus fusion anomaly. Congenital malformations with unusual clinical presentation after trauma should be evaluated through advanced radiological imaging techniques. PMID:25620987

  4. Preferential associations between oral clefts and other major congenital anomalies

    NARCIS (Netherlands)

    Rittler, Monica; Lopez-Camelo, Jorge S.; Castilla, Eduardo E.; Bermejo, Eva; Cocchi, Guido; Correa, Adolfo; Csaky-Szunyogh, Melinda; Danderfer, Ron; De Vigan, Catherine; De Walle, Hermien; da Graca Dutra, Maria; Hirahara, Fumiki; Luisa Martinez-Frias, Maria; Merlob, Paul; Mutchinick, Osvaldo; Ritvanen, Annukka; Robert-Gnansia, Elisabeth; Scarano, Gioacchino; Siffel, Csaba; Stoll, Claude; Mastroiacovo, Pierpaolo

    Objectives: To identify preferential associations between oral clefts (CL = cleft lip only, CLP = cleft lip with cleft palate, CP = cleft palate) and nonoral cleft anomalies, to interpret them on clinical grounds, and, based on the patterns of associated defects, to establish whether CL and CLP are

  5. Congenital anomalies associated with trisomy 18 or trisomy 13

    DEFF Research Database (Denmark)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and term...

  6. Exploring risk perception and attitudes to miscarriage and congenital anomaly in rural Western Kenya.

    Directory of Open Access Journals (Sweden)

    Stephanie Dellicour

    Full Text Available Understanding the socio-cultural context and perceptions of adverse pregnancy outcomes is important for informing the best approaches for public health programs. This article describes the perceptions, beliefs and health-seeking behaviours of women from rural western Kenya regarding congenital anomalies and miscarriages.Ten focus group discussions (FGDs were undertaken in a rural district in western Kenya in September 2010. The FGDs included separate groups consisting of adult women of childbearing age, adolescent girls, recently pregnant women, traditional birth attendants and mothers of children with a birth defect. Participants were selected purposively. A deductive thematic framework approach using the questions from the FGD guides was used to analyse the transcripts.There was substantial overlap between perceived causes of miscarriages and congenital anomalies and these were broadly categorized into two groups: biomedical and cultural. The biomedical causes included medications, illnesses, physical and emotional stresses, as well as hereditary causes. Cultural beliefs mostly related to the breaking of a taboo or not following cultural norms. Mothers were often stigmatised and blamed following miscarriage, or the birth of a child with a congenital anomaly. Often, women did not seek care following miscarriage unless there was a complication. Most reported that children with a congenital anomaly were neglected either because of lack of knowledge of where care could be sought or because these children brought shame to the family and were hidden from society.The local explanatory model of miscarriage and congenital anomalies covered many perceived causes within biomedical and cultural beliefs. Some of these fuelled stigmatisation and blame of the mother. Understanding of these beliefs, improving access to information about the possible causes of adverse outcomes, and greater collaboration between traditional healers and healthcare providers may

  7. LUMBAR: association between cutaneous infantile hemangiomas of the lower body and regional congenital anomalies.

    Science.gov (United States)

    Iacobas, Ionela; Burrows, Patricia E; Frieden, Ilona J; Liang, Marilyn G; Mulliken, John B; Mancini, Anthony J; Kramer, Daniela; Paller, Amy S; Silverman, Robert; Wagner, Annette M; Metry, Denise W

    2010-11-01

    To define the clinical spectrum of regional congenital anomalies associated with large cutaneous hemangiomas of the lower half of the body, clarify risk for underlying anomalies on the basis of hemangioma location, and provide imaging guidelines for evaluation. We conducted a multi-institutional, retrospective case analysis of 24 new patients and review of 29 published cases. Hemangiomas in our series tended to be "segmental" and often "minimal growth" in morphology. Such lesions were often extensive, covering the entire leg. Extensive limb hemangiomas also showed potential for extracutaneous anomalies, including underlying arterial anomalies, limb underdevelopment, and ulceration. The cutaneous hemangioma and underlying anomalies demonstrated regional correlation. Myelopathies were the most common category of associated anomalies. We propose the acronym "LUMBAR" to describe the association of Lower body hemangioma and other cutaneous defects, Urogenital anomalies, Ulceration, Myelopathy, Bony deformities, Anorectal malformations, Arterial anomalies, and Renal anomalies. There are many similarities between LUMBAR and PHACE syndrome, which might be considered regional variations of the same. Although guidelines for imaging are suggested, prospective studies will lead to precise imaging recommendations and help determine true incidence, risk and long-term outcomes. Copyright © 2010 Mosby, Inc. All rights reserved.

  8. The incidence of apparent congenital urogenital anomalies in North ...

    African Journals Online (AJOL)

    Prune belly syndrome was seen in 1 newborn. Newborns weighing less than 2500 g had a higher proportion of anomalies (9.64%) in comparison to those weighing over 2500 g (1.99%) (p = 0.0001). A maternal age >30 years, parity >2 and infertility treatment were recorded in 5.40%, 4.93% and 9.80%, respectively, and all ...

  9. Congenital Anomalies: Public Health Interventions to Ensure its Prevention and Expansion of Care to the Patients

    Directory of Open Access Journals (Sweden)

    Saurabh RamBihariLal Shrivastava

    2015-03-01

    Full Text Available Congenital anomalies can be defined as structural or functional anomalies, including metabolic / biochemical disorders, which are present at the time of birth. Congenital anomalies has been recognized as a major public health concern, owing to its universal distribution, associated long-term disability; social stigma; emotional / psychological stress for the family members; increased medical expenditure; and burden on the health care delivery system and societies. To prevent the occurrence of congenital anomalies, due attention should be given to establishment of appropriate surveillance systems to record cases from both community and hospital settings; strengthening of public health system; promoting research to explore the etiological factors and diagnosis/prevention strategies; fostering international cooperation; and discouraging the practice of consanguineous marriage / conception at an advanced age / further reproduction after birth of a malformed child. To conclude, there is an indispensable need to formulate a comprehensive policy, that should be well-supported by an efficient surveillance system, dedicated health care professionals and involvement of all stakeholders. [Cukurova Med J 2015; 40(1.000: 135-137

  10. Polyhydramnios - frequency of congenital anomalies in relation to the value of the amniotic fluid index.

    Science.gov (United States)

    Kornacki, Jakub; Adamczyk, Magdalena; Wirstlein, Przemysław; Osiński, Maciej; Wender-Ożegowska, Ewa

    2017-01-01

    The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24.1 and 29.9 cm, 2) moderate polyhydramnios with AFI between 30-34.9 cm, and 3) severe polyhydramnios with AFI ≥ 35 cm. The incidence of fetal malformations correlated significantly with the degree of polyhydramnios and was the highest in patients with severe polyhydramnios (53.3%, p = 0.002). Congenital malformations of the gastrointestinal tract were the most frequent fetal anomalies in the whole group of patients (5.3%). Trisomy 18 was the most frequent aneuploidy found in women with polyhydramnios (2.1%). The incidence of fetal congenital anomalies significantly increases with the degree of polyhydramnios, being most frequent in severe one and rather rare in a mild one. Congenital malformations of the gastrointestinal tract were the most frequent anomalies in patients with polyhy-dramnios, especially in women with severe polyhydramnios.

  11. Renal dynamic functional scintigraphy in children with congenital urinary tract anomalies

    International Nuclear Information System (INIS)

    Cui Ruixue; Zhou Qian

    2000-01-01

    Objective: To clarify the characteristics of renal scintigraphy in children with various congenital urinary tract anomalies and to evaluate their clinical significance. Methods: 51 children with congenital urinary tract anomalies were studied by 99 Tc m -DTPA renal dynamic functional scintigraphy (RDFS)). Among them, 8 cases were studied by diuretic renography in addition. Results: RDFS provided: 1) Both the morphological information of anomalies and the split renal function. 2) Localization of the site of urinary tract obstruction. In case of pelviureteric junction obstruction, the hydronephrosis was usually severe but with normal size ureter, whereas in ureterovesical junction obstruction the hydronephrosis was less severe but with dilatation of ureter. In case of lower urinary tract obstruction, the hydronephrosis and hydroureter were bilateral. Diuretic renography differentiated obstructive from non-obstructive hydronephrosis. By comparing pre-and post operative studies, it was easy to evaluate the recovery of renal function. Conclusions: RDFS is a valuable modality for giving both anatomical and functional information in children with congenital urinary tract anomalies and the authors suggest it should be used more popularly in Pediatrics

  12. Primary prevention of congenital anomalies: recommendable, feasible and achievable

    DEFF Research Database (Denmark)

    Taruscio, Domenica; Mantovani, Alberto; Carbone, Pietro

    2015-01-01

    , such as risk-benefit evaluation protocols on therapies for chronic diseases, vaccination policies, regulations on workplace and environmental exposures as well as the empowerment of women in their lifestyle choices. A primary prevention plan can identify priority targets, exploit and integrate ongoing actions...... anomalies is feasible because scientific evidence points to several risk factors (e.g., obesity, infectious and toxic agents) and protective factors (e.g., folic acid supplementation and glycemic control in diabetic women). Evidence-based community actions targeting fertile women can be envisaged...

  13. Middle ear implant in conductive and mixed congenital hearing loss in children.

    Science.gov (United States)

    Roman, Stéphane; Denoyelle, Françoise; Farinetti, Anne; Garabedian, Erea-Noel; Triglia, Jean-Michel

    2012-12-01

    Active middle ear implant can be used in children and adolescents with congenital hearing loss. The authors report their experience with the semi implantable Medel Vibrant Soundbridge(®) (VSB) in the audiologic rehabilitation of such patients. In this retrospective study, audiological and surgical data of 10 children (10.5±4 years) implanted with 12 VSB in 2 tertiary cares ENT Departments were analysed. Two children with bilateral external auditory canal (EAC) atresia and mixed hearing loss (mean air conduction (AC) thresholds=65dB HL) were bilaterally implanted. Eight children presented with microtia associated with EAC atresia bilaterally (n=3) and unilaterally (n=5). All of them had a conductive hearing loss in the implanted ear (mean (AC) thresholds were 58.75dB HL preoperatively). The Floating Mass Transducer was crimped on the long process of the incus (n=8) or on the suprastructure of the stapes (n=4). There were no intra- or postoperative surgical complications. All the children wore their implants after 5 weeks. Postoperative mean bone conduction (BC) thresholds were unchanged. The mean aided thresholds with VSB (four frequencies warble tones at 0.5, 1, 2 and 4 kHz) were 28dB HL (± 10). Word discrimination threshold in quiet conditions in free field with the VSB unilaterally activated was 50% at 38dB SPL (± 9). The results indicate that satisfaction of the children and their parents is very encouraging but surgeons should be cautious with this new approach in relation to the pinna reconstruction and to possible risks to inner ear and facial nerve. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  14. Poland syndrome (anomaly with congenital hemangioma: A new association

    Directory of Open Access Journals (Sweden)

    Riyaz Najeeba

    2006-01-01

    Full Text Available Unilateral defect of pectoral muscle and ipsilateral syndactyly constitute Poland syndrome. Absence or hypoplasia of the breast and nipple, axillary hair loss and dermatoglyphic abnormalities have also been reported in this syndrome. The primary defect could be in the development of the proximal subclavian artery with early deficit of blood flow to the distal limb and the pectoral region, resulting in partial loss of tissue in those regions. However, the association of congenital hemangioma with Poland sequence has not been observed so far. Such an association is being reported here in a 1-year-old infant, second-born of nonconsanguineous parents, who also had polydactyly instead of the documented syndactyly.

  15. A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

    Directory of Open Access Journals (Sweden)

    Çapan Konca

    2013-01-01

    Full Text Available Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney case that had mega cisterna magna, arachnodactyly, and mild mental retardation. Case Report. A 9-year-old boy admitted because of the myoclonic jerks. He had a dysmorphic face, low-set and cup-shaped ears, arachnodactyly, and mild mental retardation. The patient’s laboratory findings were normal except for a mild leucocytosis and hypochromic microcytic anemia. His cerebrospinal fluid was cytologically and biochemically normal. Cranial MRI revealed 1.5 cm diametered mega cisterna magna in the retrocerebellar region. Although there were no significant epileptical discharges in the electroencephalography, there were slow wave discharges arising from the anterior regions of both hemispheres. Because he had stomachache, abdominal ultrasonography was performed, and horseshoe kidney was determined. Abdominal CT did not reveal any abnormalities except the horseshoe kidney. There were not any cardiac pathologies in echocardiography. He had normal 46XY karyotype and there were no repeated chromosomal derangements, but we could not evaluate for molecular and submicroscopic somatic changes. He was treated with valproic acid and myoclonic jerks did not repeat. Conclusion. We suggest that the presence of these novel findings may represent a newly recognized, separate syndrome.

  16. Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population-based registry study

    DEFF Research Database (Denmark)

    Calzolari, Elisa; Barisic, Ingeborg; Loane, Maria

    2014-01-01

    for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes. RESULTS: The combination of an epidemiological...... and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p ... more frequently prenatally diagnosed (p Live born infants with MCA were more often born preterm (p 

  17. Limited risks of major congenital anomalies in children of mothers with IBD and effects of medications.

    Science.gov (United States)

    Ban, Lu; Tata, Laila Jal; Fiaschi, Linda; Card, Timothy

    2014-01-01

    Concerns persist about the risk of major congenital anomalies in children of women with inflammatory bowel disease (IBD), and whether medication use affects risk. We assessed these risks, and variations in use of medications by women with IBD before, during, and after pregnancy. We accessed data on children born to women 15-45 y old from 1990 through 2010, using a mother-child linked dataset from an electronic database of primary care records containing medical diagnoses, events, and drug prescriptions from across the United Kingdom. We identified pregnant women with IBD, and all prescriptions for 5-aminosalicylates azathioprine/6-mercaptopurine, and corticosteroids were extracted from their primary care records. We calculated risks of major congenital anomaly in children of mothers with and without IBD, and in children exposed or not exposed to 5-aminosalicylates, azathioprine/6-mercaptopurine, or corticosteroids during their first trimester of fetal development. Logistic regression with a generalized estimating equation was used to provide risk estimates adjusted for confounders. We calculated proportions of women taking medications before, during, and after pregnancy and assessed whether cessation was associated with subsequent disease flares. Risks of a major congenital anomaly in 1703 children of mothers with IBD and 384,811 children of mothers without IBD were 2.7% and 2.8%, respectively. This corresponded to an adjusted odds ratio of 0.98 (95% confidence interval [CI], 0.73-1.31). In children of women with IBD, the adjusted odds ratios of a major congenital anomaly associated with drug use were 0.82 (95% CI, 0.42-1.61) for 5-aminosalicylates 0.48 (95% CI, 0.15-1.50) for corticosteroids, and 1.27 (95% CI, 0.48-3.39) for azathioprine/6-mercaptopurine. No increases in heart, limb, or genital anomalies were found in children of women with IBD; 31.2% of women discontinued 5-aminosalicylates and 24.6% discontinued azathioprine/6-mercaptopurine in early pregnancy

  18. Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    NARCIS (Netherlands)

    Miller, David T.; Adam, Margaret P.; Aradhya, Swaroop; Biesecker, Leslie G.; Brothman, Arthur R.; Carter, Nigel P.; Church, Deanna M.; Crolla, John A.; Eichler, Evan E.; Epstein, Charles J.; Faucett, W. Andrew; Feuk, Lars; Friedman, Jan M.; Hamosh, Ada; Jackson, Laird; Kaminsky, Erin B.; Kok, Klaas; Krantz, Ian D.; Kuhn, Robert M.; Lee, Charles; Ostell, James M.; Rosenberg, Carla; Scherer, Stephen W.; Spinner, Nancy B.; Stavropoulos, Dimitri J.; Tepperberg, James H.; Thorland, Erik C.; Vermeesch, Joris R.; Waggoner, Darrel J.; Watson, Michael S.; Martin, Christa Lese; Ledbetter, David H.

    2010-01-01

    Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient

  19. Comparison of foetal US and MRI in the characterisation of congenital lung anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Alamo, Leonor, E-mail: leonor.alamo@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Reinberg, Olivier, E-mail: Olivier.reinberg@chuv.ch [Department of Pediatric Surgery, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Vial, Yvan, E-mail: Yvan.vial@chuv.ch [Unit of Prenatal Obstetric Diagnosis, Department of Gynecology and Obstetrics, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Gudinchet, François, E-mail: Francois.Gudinchet@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Meuli, Reto, E-mail: Reto.Meuli@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland)

    2013-12-01

    Objectives: To compare the accuracy of prenatal ultrasonography (US) to magnetic resonance imaging (MRI) in the characterisation of congenital lung anomalies, and to assess their agreement with final diagnosis. To evaluate the influence of additional MRI information on therapeutic management. Methods: 26 prenatal congenital lung anomalies detected consecutively between 2006 and 2012 were retrospectively evaluated. Lesions were initially observed at prenatal US and further investigated with MRI. Prenatal US and MRI imaging findings, and suggested diagnosis were compared with the final diagnosis, obtained from autopsies (4), pathological evaluation following surgical resection (15) and postnatal imaging studies (7). Results: Postnatal diagnoses included 7 congenital pulmonary airway malformations, 8 complex lesions, 7 overinflations, 1 sequestration, 1 bronchogenic cyst, 1 blastoma and 1 bilateral lymphangioma. Suggested prenatal US and MRI diagnosis was correct in 34.6% and 46.2% of patients, respectively, mainly isolated lung lesions with typical imaging findings. Nonspecific imaging findings at US and MRI studies were observed in 38.4% of cases. In 42% of the operated anomalies, pathological dissection revealed the presence of complex anomalies. MRI changed the US diagnosis, but not the further management in 9.7% of the lesions. Conclusions: Prenatal US and MRI showed a high accuracy in the diagnosis of isolated congenital lung lesions with typical imaging findings. However, overall characterisation rates were low, because of both a high percentage of complex lesions and of lesions with nonspecific imaging findings. MRI was better than US in characterising complex lesions, but its additional information did not influence therapy decisions.

  20. Clinical Observation of Concomitant Congenital Heart Disease and Anomaly of the Urinary System in Adolescent

    Directory of Open Access Journals (Sweden)

    M.P. Limarenko

    2014-08-01

    Full Text Available The article presents the clinical observation of multiple malformations in a child: combination of congenital heart disease with an anomaly of the urinary system on the background of undifferentiated connective tissue dysplasia syndrome of maximum severity. This case report is of interest to pediatricians. Children with defects of the heart and urinary system often have other malformations, so in these patients it is important to conduct a full multisystem examination.

  1. The Pelvic Digit: A Rare Congenital Anomaly as a Cause of Hip Pain

    OpenAIRE

    Moreta-Su?rez, Jes?s; de Ugarte-Sobr?n, Oskar S?ez; S?nchez-Sobrino, Alberto; Mart?nez-De Los Mozos, Jos? Luis

    2012-01-01

    Introduction: The pelvic digit or pelvic rib is an unusual congenital anomaly with a finger or rib like bone formation in soft tissues around normal pelvic skeleton. This is a benign lesion and mostly an Incidental finding on radiographs. Most reported cases are asymptomatic and do not require intervention. We report a case of symptomatic pelvic rib that required surgical excision. Case Report: A 57-year-old man presented with a long history of pain and functional limitation in his right hip....

  2. Failed Percutaneous Mitral Commisurotomy due to congenital anomaly of inferior vena cava

    International Nuclear Information System (INIS)

    Alam, S. T.; Ashraf, T.; Memon, A.

    2013-01-01

    Since its inception in 1982, percutaneous transvenous mitral commissurotomy (PTMC) has gained increasingly wide use internationally in patients with Rheumatic Mitral stenosis. PTMC offers an alternative to surgery in patients who have pliable mitral valve. Very few reasons were reported to abort the procedure when patient lies on the table. This study presents two case reports in which congenital venous anomalies were one of the reasons to terminate the procedure. (author)

  3. Bronchoscopy findings in children and young adults with tracheostomy due to congenital anomalies and neurological impairment.

    Science.gov (United States)

    Kharasch, Virginia S; Dumas, Helene M; Haley, Stephen M; Sawicki, Gregory S; Ludlow, Larry H; Wright, Erika A; Jones, Dwight T; O'Brien, Jane E

    2008-01-01

    The aim of this study was to examine bronchoscopy findings for children and young adults with long-term tracheostomies due to congenital anomalies and neurological impairment and identify characteristics associated with abnormal bronchoscopic findings. We conducted a retrospective study of 128 bronchoscopy cases (81 children) at a pediatric rehabilitation center. Thirty-eight cases (30%) had normal findings and 14 children (17% of all children) were decannulated following bronchoscopy. Ninety cases (70% of cases) had abnormal findings (e.g. granulomas, airway inflammation, fixed obstruction). An acute indication for bronchoscopy was the strongest predictor of an abnormal finding, while age (younger) and diagnosis (multiple congenital anomalies (MCA)) also were associated with abnormalities. For a subsample of children undergoing bronchoscopy for routine surveillance (n= 90), underlying diagnosis (MCA) was the strongest predictor of an abnormal finding, while younger age contributed slightly. These findings add to the limited literature describing bronchoscopic findings in children and youth with tracheostomies due to congenital anomalies or neurological impairment. These findings may be useful for rehabilitation clinicians in determining care needs for children with long-term tracheostomy.

  4. Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging

    OpenAIRE

    Trenga, Anthony P.; Singla, Anuj; Feger, Mark A.; Abel, Mark F.

    2016-01-01

    Purpose Congenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases. Methods All patients aged ?13 years (n?=?75) presenting to the pediatric spine clinic from 2003?2013 with congenital bony spinal deformity and both radiograph...

  5. Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-09-01

    Full Text Available Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to 31 th November 2015 from three general hospitals in Zahedan, The capital city of the Sistan & Baluchestan  province, Iran. All oral cleft patients were under echocardiography to diagnosis the incidence of CHD as associated anomaly. The collected data were processed using SPSS-16. Results The results of the analysis showed that the incidence of cleft lip was higher in boys than girls, while the cleft palate was higher in girls. Lip/palate cleft was higher for boys.  Oral clefts patients accounted of 102 (0.2% with incidence rate of 2.095 per 1000 lives. Of 102 patients 19 (18.62%, 39(35.24% and 44(43.14% were oral lip, oral palate and both respectively. The incidence of CHD in patients with oral clefts was 26.5%, while the incidences for cleft lip, cleft palate and both were 15.79%, 20.51%, and 36.36% respectively. Conclusion From the study concluded that the rate of CHD among children with oral clefts was high compared with the healthy children.  Strongly is suggested the echocardiography for these patients to have early diagnostic of CHD to manage any life-threatening.

  6. Cor triatriatum dexter, a very rare congenital anomaly presented in a complex pathological context – case presentation

    Directory of Open Access Journals (Sweden)

    Gozar Liliana

    2014-08-01

    Full Text Available Background Cor triatriatum dexter is an extremely rare congenital anomaly, and in most cases, without hemodynamic significance. Congenital cytomegalovirus infection is the most common viral infection, the majority of infected infants being asymptomatic and only 5-15% being symptomatic in the neonatal period.

  7. Risk of congenital anomalies in the vicinity of municipal solid waste incinerators.

    Science.gov (United States)

    Cordier, S; Chevrier, C; Robert-Gnansia, E; Lorente, C; Brula, P; Hours, M

    2004-01-01

    Although municipal solid waste incineration (MSWI) has contributed to increase the overall environmental load of particulate matter containing dioxins and metals, evidence of health consequences to populations is sparse. To assess at a regional level (in southeast France) the impact of these emissions on birth defect rates. Communities with fewer than 50 000 inhabitants surrounding the 70 incinerators that operated at least one year from 1988 to 1997 were studied. Each exposed community (n = 194) was assigned an exposure index estimated from a Gaussian plume model. Poisson models and a reference population of the 2678 unexposed communities in the region were used to calculate relative risks for congenital malformations, adjusted for year of birth, maternal age, department of birth, population density, average family income, and when available, local road traffic. The rate of congenital anomalies was not significantly higher in exposed compared with unexposed communities. Some subgroups of major anomalies, specifically facial clefts and renal dysplasia, were more frequent in the exposed communities. Among exposed communities, a dose-response trend of risk with increasing exposure was observed for obstructive uropathies. Risks of cardiac anomalies, obstructive uropathies, and skin anomalies increased linearly with road traffic density. Although both incinerator emissions and road traffic may plausibly explain some of the excess risks observed, several alternative explanations, including exposure misclassification, ascertainment bias, and residual confounding cannot be excluded. Some of the effects observed, if real, might be attributable to old-technology MSWIs and the persistent pollution they have generated.

  8. Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.

    Science.gov (United States)

    Tekin, Mustafa; Fitoz, Suat; Arici, Serap; Cetinkaya, Ergun; Incesulu, Armagan

    2006-05-01

    Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa-Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness. Bilateral absence of the cochlea with dilated dysplastic vestibule and unilateral enlarged vestibule were demonstrated in these two individuals. In conclusion, Niikawa-Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome.

  9. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Guillermo Lay-Son

    2015-04-01

    Full Text Available OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm HD Array, Affymetrix, Inc., Santa Clara, CA, USA. Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.

  10. [The impact of Glut-1 marker application on the diagnosis and treatment of congenital vascular anomalies].

    Science.gov (United States)

    López Gutiérrez, J C; Tovar, J A; Patrón, M

    2005-07-01

    Hemangiomas of infancy have a unique vascular phenotype demonstrated by glucose transporter 1 (GLUT-1) staining marker. Since its first description by P. E. North in 2000 its use has become widely spread by clinicians and researchers in the field of vascular anomalies. We prospectively and retrospectively used GLUT-1 marker on 90 patients divided in five groups over a two years period. Grupo I: Hemangiomas under 1 year of age. Grupo II: Hemangiomas between 1 and 15 years of age. Grupo III: Misdiagnosed angiomas in patients older than 15 years. Grupo IV: Patients with low and high flow vascular malformations Grupo V: Vascular tumors other than hemangiomas. As a result of the study, significant improvement has been noticed by the authors in appropiate vascular anomalies classification by primary care physicians involved in the study. Angioma is not anymore synonym of vascular birthmark. In addition the management of the newborn with a vascular tumour benefit from a more appropriate antiangiogenic therapy. Patients with RICH (rapidly involuting congenital hemangioma) or NICH (non involuting congenital hemangioma) pattern after biopsy and inmunohistochemical study did not receive any pharmacological agent as a part of their treatment. Finally GLUT-1 helped multidisciplinary vascular anomalies team development by promoting clinical, radiological and histopathologic correlations between different specialists.

  11. Congenital anomalies of coronary arteries: Diagnosis with 64 slice multidetector CT

    Energy Technology Data Exchange (ETDEWEB)

    Tariq, Rukhsana, E-mail: drrukhsanatariq@hotmail.com [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan); Kureshi, Shahzad Babar [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan); Siddiqui, Usman T. [Medical College, Aga Khan University, Karachi (Pakistan); Ahmed, Rashid [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan)

    2012-08-15

    Objective: Congenital coronary artery anomalies are generally incidental, uncommon and asymptomatic. Some can cause severe potentially life threatening symptoms. The common mode of studying the coronary arteries is Conventional Coronary Angiogram. ECG-gated-multidetector CT is a non invasive modality. The objective of our study was to identify rare congenital coronary artery anomalies and discuss their clinical significance. Material and methods: A total number of 900 MDCT coronary angiograms were carried out at our institution between the period of April 2006 and October 2010. Patients with coronary artery anomaly constituted the subject of study. Results: The incidence of anomalous anatomical origin and course of the coronary arteries in our study was 1.55%. Hemodynamical significance was seen in five patients. 3 cases of single coronary artery originating from right coronary sinus were seen. 1 case of anomalous left coronary artery arising from main pulmonary artery was seen. 4 cases of anomalous RCA arising from left aortic cusp, 6 cases of absent LMCA with separate origin of LAD and LCX were seen. Conclusion: Multidetector row CT is a noninvasive modality in cardiac imaging. It provides superior resolution of coronary tree and its variant. No projectional vascular overlap is seen. Various postprocessing techniques outclass catheter angiography imaging. Definition of ostia and proximal course of the coronary arteries by Multidetector CT is better than catheter angiography.

  12. Congenital anomalies of coronary arteries: Diagnosis with 64 slice multidetector CT

    International Nuclear Information System (INIS)

    Tariq, Rukhsana; Kureshi, Shahzad Babar; Siddiqui, Usman T.; Ahmed, Rashid

    2012-01-01

    Objective: Congenital coronary artery anomalies are generally incidental, uncommon and asymptomatic. Some can cause severe potentially life threatening symptoms. The common mode of studying the coronary arteries is Conventional Coronary Angiogram. ECG-gated-multidetector CT is a non invasive modality. The objective of our study was to identify rare congenital coronary artery anomalies and discuss their clinical significance. Material and methods: A total number of 900 MDCT coronary angiograms were carried out at our institution between the period of April 2006 and October 2010. Patients with coronary artery anomaly constituted the subject of study. Results: The incidence of anomalous anatomical origin and course of the coronary arteries in our study was 1.55%. Hemodynamical significance was seen in five patients. 3 cases of single coronary artery originating from right coronary sinus were seen. 1 case of anomalous left coronary artery arising from main pulmonary artery was seen. 4 cases of anomalous RCA arising from left aortic cusp, 6 cases of absent LMCA with separate origin of LAD and LCX were seen. Conclusion: Multidetector row CT is a noninvasive modality in cardiac imaging. It provides superior resolution of coronary tree and its variant. No projectional vascular overlap is seen. Various postprocessing techniques outclass catheter angiography imaging. Definition of ostia and proximal course of the coronary arteries by Multidetector CT is better than catheter angiography.

  13. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies: A European register-based study in 12 European countries

    NARCIS (Netherlands)

    Wemakor, A.; Casson, K.; Garne, E.; Bakker, Marian; Tucker, D.; Khoshnood, B.; Nelen, V.; O'Mahoney, M.; Pierini, A.; Klungsoyr, K.; Gatt, M.; Addor, C.M.; Rissmann, A.; Arriola, L.; Boyle, B.; De Jong-Van Den Berg, L.; Dolk, H.

    2015-01-01

    Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between

  14. Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly.

    Science.gov (United States)

    Al Shamrani, Mohammed; Al Hati, Khitam; Alkatan, Hind; Alharby, Mosa; Jastaneiah, Sabah; Song, Jonathan; Edward, Deepak P

    2016-02-01

    To examine the immunohistochemical alterations in the corneal stroma in Peters anomaly (PA) and congenital glaucoma (CG) compared with age-matched normals and acquired adult corneal scarring (AACS). The clinical features of PA and CG patients who underwent penetrating keratoplasty were recorded. Immunohistochemistry of cornea and control tissue (normal and acquired corneal scars) was performed with antibodies against collagen types I, III, keratan sulfate, lumican, decorin, and smooth muscle actin followed by semiquantitative analysis of immunolabeling. Clinical features in 2 groups were consistent with PA and CG. Microscopy showed thickened stromal collagen bundles in PA (n = 15), CG (n = 11), and AACS (n = 20) compared with normals (n = 18). PA and CG had distinct immunophenotypes compared with controls. Type I collagen labeling was more intense in CG compared with PA (intensity grading (IG) 2.73 vs. 2.07; P corneas and so does PA from AACS. The similarities between CG and AACS suggest that CG scarring has an acquired component.

  15. Congenital anomalies of the inferior vena cava: importance of multiplanar imaging methods: an iconographic essay

    International Nuclear Information System (INIS)

    Viana, Sergio Lopes; Mendonca, Jose Luiz Furtado de; Freitas, Flavia Mendes Oliveira

    2006-01-01

    The inferior vena cava is the result of a complex embryologic process which takes place between 6 and 8 weeks of intra-uterine life. Several variations can occur during this process, and a defective embryogenesis of this vessel may lead to the development of anatomic variants. Although many of these variants are asymptomatic, the radiologist should be aware of them and of the potential medico-legal issues involved, especially in cases in which abdominal surgery or hemodynamic procedures are contemplated. In this paper, the major congenital anomalies involving the inferior vena cava are reviewed under the form of a pictorial essay, highlighting the role of the multiplanar imaging methods (volumetric computed tomography and magnetic resonance imaging) in their diagnosis. Keywords: Congenital variations; Inferior vena cava; Renal veins; Computed tomography; Magnetic resonance imaging. author)

  16. Diagnosis of common congenital heart anomalies in the dog using survey and nonselective contrast radiography

    International Nuclear Information System (INIS)

    Stickle, R.L.; Anderson, L.K.

    1987-01-01

    The most common canine congenital heart anomalies include patient ductus arteriosus, ventricular septal defects, tetralogy of Fallot, pulmonic stenosis, and aortic stenosis. Survey radiography and nonselective (venous) angiography can allow the practicing veterinarian to confirm the diagnosis in many of these patients. Typical radiographic findings using these diagnostic procedures are reviewed. Nonselective angiocardiography is a relatively easy, rapid, and noninvasive procedure which can be performed using conventional equipment. The major disadvantage of this special procedure is that the superimposition of opacified structures can make the identification of some left-to-right shunts difficult. Dilution of contrast medium can occur if a rapid bolus injection is not made

  17. Prevalence and characteristics of coronary artery anomalies in children with congenital heart disease diagnosed with coronary angiography.

    Science.gov (United States)

    Temel, Münevver Tuğba; Coşkun, Mehmet Enes; Başpınar, Osman; Demiryürek, Abdullah Tuncay

    2017-09-01

    Aim of the present study was to determine the prevalence of coronary artery anomalies in children with congenital heart disease. Data of 1138 consecutive patients who were referred for cardiac catheterization and angiography for assessment of coronary anomaly between January 2005 and December 2009 were retrospectively analyzed. Total of 515 patients whose coronary arteries could be examined through left ventricle and aortic root injection were included in the study. Of 515 angiograms with visible coronaries, 42 patients (20 males, 22 females; mean age: 5.3±2.0 years) were found to have final diagnosis of coronary anomaly. Prevalence of coronary artery anomalies was 8.16% in this study. It was determined that 38 (90.4%) were anomalies of origination, 2 (4.8%) were anomalies of intrinsic coronary arterial anatomy, and 2 (4.8%) were anomalies of coronary termination. Most common coronary artery abnormality was anomalous origin of the right coronary artery from the left aortic sinus (16 patients; 38.1%), and the most common congenital heart disease was tetralogy of Fallot (18 patients; 42.9%). Recognizing variability of coronary artery anomalies is critical when considering surgical or interventional therapies in children with congenital heart disease.

  18. Congenital anomalies of the venae cavae: embryological origin, imaging features and report of three new variants

    Energy Technology Data Exchange (ETDEWEB)

    Minniti, S.; Visentini, S.; Procacci, C. [Department of Radiology, University of Verona, Policlinico ' ' GB Rossi' ' , Piazzale LA Scuro, 37134 Verona (Italy)

    2002-08-01

    Due to the complexity of their developmental stages, the venae cavae may undergo a very large number of congenital anomalies. All the possible abnormalities which, to our knowledge, have been observed in the literature are reported, differentiating those of the superior vena cava and the azygos system, those of the inferior vena cava and the complex anomalies that concern the venous system as a whole. Moreover, we present three new variants: a right double inferior vena cava with azygos continuation of the posterior-medial vein; an agenesis of the superior vena cava with drainage through the azygos and hemiazygos veins to the inferior vena cava; and a double inferior vena cava with hemiazygos and azygos continuation of the left one. (orig.)

  19. Congenital Agenesis of the Internal Jugular Vein: An Extremely Rare Anomaly

    Directory of Open Access Journals (Sweden)

    Oguz Kayiran

    2015-01-01

    Full Text Available Vascular anomalies of major venous vessels are rarely seen. Moreover, congenital absence of internal jugular vein is extremely uncommon. In our case, a female patient presented with primary unknown left cervical mass. Cervical ultrasonography demonstrated absence of right internal jugular vein. In addition, computed tomography and dynamic magnetic resonance imaging scans confirmed this diagnosis. Compensatory left internal jugular vein enlargement mimicked sort of cervical mass. Venous magnetic resonance imaging images revealed the absence of right internal jugular vein with compensatory left internal jugular vein dominance. In the literature, the agenesis of IJV was mentioned in a case with concomitant multiple problems. Here, an asymptomatic case is reported with an incident diagnosis. No interventions were planned upon the patient's request. It should be kept in mind that any kind of anomalies can be seen during venous access and neck surgery.

  20. Frequency of different congenital anomalies in prenatally valproic acid treated chick embryos

    International Nuclear Information System (INIS)

    Akhtar, L.; Khan, M.Y.

    2016-01-01

    To determine the frequency of different congenital anomalies in surviving chick embryo on hatching after the prenatal administration of valproic acid by comparing with age-matched controls. Study Design: Experimental study. Place and Duration of Study: Anatomy Department, College of Physicians and Surgeons Pakistan (CPSP) Regional Centre, Islamabad, from February 2010 to February 2011. Material and Methods: Thirty fertilized chicken eggs were injected with valproic acid, incubated and then evaluated for different gross congenital anomalies, on hatching or day 22 of incubation whichever was earlier. Chicks of this group were labeled as experimental group-A. Similarly, another group of thirty fertilized chicken eggs labeled as control group-B, underwent sham treatment using normal saline. The weight and length of alive chicks, the total number of chicks with gross anomalies and the number of different types of gross anomalies in both groups were noted and statistically compared. Results: In control group-B, 28 chicks hatch out on 21 day of hatching with no visible gross deformities. Whereas in experimental group-A, 23 chicks were alive, out of which, 9 chicks were with delayed hatching on 22 days of hatching. The chicks with gross deformities were 8 (p=0.0008) which included: limb abnormalities (i.e. inverted feet) in 6 chicks (p=0.006), eye abnormality (i.e. closed palpebral fissure of both eyes) in 2 chick (p=0.2), 1 chick showed multiple deformities including gastroschisis, closed palpebral fissures and inverted foot (p=0.45). There were behavioral changes in 10 chicks (p=0.0001). There was statistically significant difference in their weights (p=0.03). Conclusion: Prenatal exposure of chick embryos to valproic acid increased the incidence of different gross deformities. (author)

  1. Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies

    Directory of Open Access Journals (Sweden)

    Radoslava Vazharova

    2016-01-01

    Full Text Available Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.. The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS.

  2. Obstructed labour caused by rare congenital anomaly of foetus: managed by foetal abdominal tapping leading to successful vaginal delivery

    OpenAIRE

    Neelam Swaroop; Priya Sharma; Kalpana Kumari; Shikha Seth

    2015-01-01

    Obstructed labour with high maternal morbidity and mortality is still prevalent in the developing world. The common causes of obstructed labour include contracted pelvis, uterine abnormalities, maternal pelvic tumours, foetal malpresentation, and congenital foetal abnormalities like hydrocephalus, polycystic kidneys/hydronephrosis or locked twins. Here we present a case of rare congenital anomaly of foetus, Prune belly syndrome causing obstructed labour in its course and managed by foetal abd...

  3. Computed tomography of common congenital lesions of the temporal bone

    Energy Technology Data Exchange (ETDEWEB)

    Yuen, H.Y. E-mail: drhyyuen@doctors.org.uk; Ahuja, A.T.; Wong, K.T.; Yue, V.; Hasselt, A.C. van

    2003-09-01

    This pictorial review describes the application of high-resolution computed tomography to the investigation and pre-operative work-up of the common lesions of congenital hearing loss, including congenital aural dysplasia, various congenital ossicular anomalies, inner ear dysmorphology, large vestibular aqueduct syndrome, and congenital absence of cochlear nerve and labyrinthitis ossificans from previous infection. The aim is to help radiologists to provide a more accurate diagnosis of underlying aetiology and assist in surgical planning.

  4. Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study.

    Science.gov (United States)

    Postoev, Vitaly A; Grjibovski, Andrej M; Kovalenko, Anton A; Anda, Erik Eik; Nieboer, Evert; Odland, Jon Øyvind

    2016-03-01

    Congenital anomalies of the kidney and the urinary tract (CAKUTs) are relatively common birth defects. The combined prevalence in Europe was 3.3 per 1000 in 2012. The risk factors for these anomalies are not clearly identified. The aims of our study were to calculate the birth prevalences of urinary malformations in Murmansk County during 2006 to 2011 and to investigate related prenatal risk factors. The Murmansk County Birth Registry was the primary source of information and our study included 50,936 singletons in the examination of structure, prevalence and proportional distribution of CAKUTs. The multivariate analyses of risk factors involved 39,322 newborns. The prevalence of CAKUTs was 4.0 per 1000 newborns (95% confidence interval [CI], 3.4-4.5) and did not change during the study period. The most prevalent malformation was congenital hydronephrosis (14.2% of all cases). Diabetes mellitus or gestational diabetes (odds ratio [OR] = 4.77; 95% CI, 1.16-19.65), acute infections while pregnant (OR = 1.83; 95% CI, 1.14-2.94), the use of medication during pregnancy (OR = 2.03; 95% CI, 1.44-2.82), and conception during the summer (OR = 1.75; 95% CI 1.15-2.66) were significantly associated with higher risk of CAKUTs. The overall fourfold enhancement of the occurrence of urinary malformations in Murmansk County for the 2006 to 2011 period showed little annual dependence. During pregnancy, use of medications, infections, pre-existing diabetes mellitus, or gestational diabetes were associated with increased risk of these anomalies, as was conception during summer. Our findings have direct applications in improving prenatal care in Murmansk County and establishing targets for prenatal screening and women's consultations. © 2016 Wiley Periodicals, Inc.

  5. Exploration of spatial patterns of congenital anomalies in Los Angeles County using the vital statistics birth master file.

    Science.gov (United States)

    Rible, Radhika; Aguilar, Efren; Chen, Angela; Bader, Joshua L; Goodyear-Moya, Leslie; Singh, Karen Teekadai; Paulson, Suzanne E; Friedman, Julie; Izadpanah, Nilufar; Pregler, Janet

    2018-03-02

    Research has shown linkages between environmental exposures and population health metrics such as low birth weight and incidence of congenital anomalies. While the exact causal relationship between specific environmental teratogens and suspected corresponding congenital anomalies has largely not been established, spatial analysis of anomaly incidence can identify potential locations of increased risk. This study uses the Vital Statistics Birth Master File to map and analyze the rates of congenital anomalies of births from non-smoking mothers 15-35 years old within Los Angeles County. Hot spot analysis shows that the distribution of congenital anomalies is not randomly distributed throughout the county and identified the Antelope Valley and San Gabriel Foothills as two areas with elevated incidence rates. These results are not explained by potential confounders such as maternal age, race, smoking status, or socioeconomic status and seem to correlate well with the concentration of atmospheric ozone. This approach demonstrates the value of using spatial techniques to inform future research efforts and the need to establish and maintain a comprehensive reproductive health surveillance system.

  6. Congenital anomalies of coronary arteries in complex congenital heart disease: diagnosis and analysis with dual-source CT.

    Science.gov (United States)

    Yu, Fang-fang; Lu, Bin; Gao, Yang; Hou, Zhi-hui; Schoepf, U Joseph; Spearman, James V; Cao, Hui-li; Sun, Ming-li; Jiang, Shi-liang

    2013-01-01

    Congenital heart diseases (CHDs) are sometimes associated with coronary artery anomalies (CAAs). Accurate preoperative evaluation of coronary artery anatomy is essential for successful surgical repair of complex CHD. The aim of this study was to evaluate the incidence of congenital CAAs in patients with complex CHD at dual-source CT. Four hundred seventeen consecutive patients with complex CHD underwent contrast-enhanced cardiac CT angiography. The results were retrospectively analyzed, including the types and incidences of CAAs in various forms of complex CHD. Each patient was analyzed independently by 2 experienced cardiovascular radiologists. Image quality of coronary arteries was assessed on a 5-point scale with 2 or less being nondiagnostic. Thirty-five of 417 studies were nondiagnostic (8.39%). Sixty-three cases of CAA (15.11%) were detected by anomalous ostia and coronary arteries. CAA was involved in 6 of 108 patients with tetralogy of Fallot (5.56%), 18 of 84 patients with double outlet right ventricle (21.43%), 11 of 97 patients with pulmonary artery atresia (11.34%), 7 of 36 patients with transposition of the great arteries (22.22%), 15 of 41 patients with single ventricle (36.59%), 4 of 12 patients with truncus arteriosus/aortopulmonary window (33.33%), and 2 of 39 patients with interruption of the aortic arch/coarctation of the aorta (5.13%). Twenty of these were accompanied with an anomalous coronary course (31.74%). Patients with complex CHD have a higher prevalence of CAAs, which should be considered before surgery. Dual-source CT is an effective technique to visualize and evaluate complex CHD. Copyright © 2013 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

  7. Congenital varitans and anomalies of the pancreas and pancreatic duct: Imaging by magnetic resonance cholangiopancreaticography and multidetector computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Tuerkvatan, Aysel; Yener, Ouzlem [Dept. of Radiology, Tuerkiye Yueksek Ihtisas Hospital, Ankara (Turkmenistan); Erden, Aysel [Dept. of Radiology, Ankara University School of Medicine, Antalya (Turkmenistan); Tuerkoglu, Mehmet Akif [Dept. of General Surgery, Antalya University School of Medicine, Antalya (Turkmenistan)

    2013-12-15

    Though congenital anomalies of the pancreas and pancreatic duct are relatively uncommon and they are often discovered as an incidental finding in asymptomatic patients, some of these anomalies may lead to various clinical symptoms such as recurrent abdominal pain, nausea and vomiting. Recognition of these anomalies is important because these anomalies may be a surgically correctable cause of recurrent pancreatitis or the cause of gastric outlet obstruction. An awareness of these anomalies may help in surgical planning and prevent inadvertent ductal injury. The purpose of this article is to review normal pancreatic embryology, the appearance of ductal anatomic variants and developmental anomalies of the pancreas, with emphasis on magnetic resonance cholangiopancreaticography and multidetector computed tomography.

  8. Congenital varitans and anomalies of the pancreas and pancreatic duct: Imaging by magnetic resonance cholangiopancreaticography and multidetector computed tomography

    International Nuclear Information System (INIS)

    Tuerkvatan, Aysel; Yener, Ouzlem; Erden, Aysel; Tuerkoglu, Mehmet Akif

    2013-01-01

    Though congenital anomalies of the pancreas and pancreatic duct are relatively uncommon and they are often discovered as an incidental finding in asymptomatic patients, some of these anomalies may lead to various clinical symptoms such as recurrent abdominal pain, nausea and vomiting. Recognition of these anomalies is important because these anomalies may be a surgically correctable cause of recurrent pancreatitis or the cause of gastric outlet obstruction. An awareness of these anomalies may help in surgical planning and prevent inadvertent ductal injury. The purpose of this article is to review normal pancreatic embryology, the appearance of ductal anatomic variants and developmental anomalies of the pancreas, with emphasis on magnetic resonance cholangiopancreaticography and multidetector computed tomography.

  9. Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries.

    Science.gov (United States)

    Agopian, A J; Evans, Jane A; Lupo, Philip J

    2018-01-15

    It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs. This article reviews the literature with regard to analytic methods that have been used to evaluate patterns of MCAs, in particular those using birth defect registry data. A popular method for MCA assessment involves a comparison of the observed to expected ratio for a given combination of MCAs, or one of several modified versions of this comparison. Other methods include use of numerical taxonomy or other clustering techniques, multiple regression analysis, and log-linear analysis. Advantages and disadvantages of these approaches, as well as specific applications, were outlined. Despite the availability of multiple analytic approaches, relatively few MCA combinations have been assessed. The availability of large birth defects registries and computing resources that allow for automated, big data strategies for prioritizing MCA patterns may provide for new avenues for better understanding co-occurrence of birth defects. Thus, the selection of an analytic approach may depend on several considerations. Birth Defects Research 110:5-11, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  10. Recurrence risk of congenital anomalies - the impact of paternal, social, and environmental factors

    DEFF Research Database (Denmark)

    Basso, Olga; Olsen, Jørn; Christensen, Kaare

    1999-01-01

    The authors investigated the recurrence risk of congenital anomalies as a function of changes in genetic and environmental factors in single births following the birth of a child with an anomaly. The study is a population-based historical follow-up using the Danish Medical Birth registry, hospital...... with a malformation, 155 of which (1.8%) were similar to the malformation of the older sib or half sib. When the father changed between the two births, the risk of a similar anomaly was significantly reduced (odds ratio (OR) = 0.26, 95% confidence interval (CI) 0.11, 0.65). Higher social status at enrollment...... was associated with a lower recurrence risk (OR = 0.67, 95% CI 0.45, 0.99, for the middle status group and OR = 0.49, 95% CI 0.30, 0.81, for the highest status group), independently of partner change. A rise in social status between the two births was marginally associated with a decline in the recurrence risk...

  11. Frequency of Congenital Anomalies in Newborns and Its Relation to Maternal Health in a Tertiary Care Hospital in Peshawar, Pakistan

    Directory of Open Access Journals (Sweden)

    Adnan Khan

    2015-03-01

    Full Text Available Background: Congenital anomalies are a major cause of perinatal and neonatal deaths, both in low- and high-income countries. They are relatively common worldwide, affecting 3% to 5% of live births. Methods: A cross-sectional study was conducted from January 2014 to June 2014 at the Khyber teaching hospital in Peshawar. Specific patient information was obtained from patient records at the beginning of the study. Those individuals found to have at least one birth defect were approached and their attendants (mothers were interviewed. Information regarding various risk factors was collected. Descriptive analyses were carried out. Results: Out of 1062 deliveries, 2.9% (31 of newborns had various congenital anomalies. Hydrocephalus (22.6%, anencephaly (12.9%, and spina bifida (9.7% were major anomalies. The maternal age ranged from 18 years to 46 years (mean: 30 ± 8. Most of the anomalies (35.5% were present in the 26-30 years age group. Out of 31 babies, 6.4% had multiple anomalies. The preponderance of various congenital anomalies was seen in parity 1 (35.4%; parities 2 to 4 had lower incidences (35.4%. The consanguinity rate was 67.7%; only 32.3% of patients were using folic acid. History of passive smoking was positive in 16.1% of cases. Conclusion: Anencephaly and hydrocephalus were the most prominent anomaly detected; early prenatal diagnosis may be helpful in decreasing mortality by offering early termination. Low intake of folic acid and a high consanguinity rate were the most common associated risk factors for congenital anomalies. These risk factors may be reduced by creating awareness regarding the avoidance of consanguineous marriage and promoting the use of folic acid during pregnancy.

  12. Clinical review of inner ear malformation

    International Nuclear Information System (INIS)

    Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

    2003-01-01

    We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

  13. Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10.

    Science.gov (United States)

    Bedard, Tanya; Lowry, R Brian; Sibbald, Barbara; Thomas, Mary Ann; Innes, A Micheil

    2016-01-01

    The use of array-based comparative genomic hybridization to assess DNA copy number is increasing in many jurisdictions. Such technology identifies more genetic causes of congenital anomalies; however, the clinical significance of some results may be challenging to interpret. A coding strategy to address cases with copy number variants has recently been implemented by the Alberta Congenital Anomalies Surveillance System and is described.

  14. Ehlers-Danlos syndrome type IV : unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

    NARCIS (Netherlands)

    Kroes, HY; Pals, G; van Essen, AJ

    A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an

  15. Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems

    NARCIS (Netherlands)

    Belligni, Elga F.; Hennekam, Raoul C. M.

    2010-01-01

    We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found

  16. Middle Ear Exploration Results in Suspected Otosclerosis Cases Referred to Amir-Almomenin and Golsar Hospitals, Rasht, 2001-2011: Are Ossicular and Footplate Area Anomalies Rare?

    Directory of Open Access Journals (Sweden)

    Shadman Nemati

    2013-06-01

    Full Text Available Introduction: Otosclerosis is a disease of bony labyrinth. Structural changes in the labyrinth often cause ossicular fixation, and thus conductive hearing loss. The purpose of this study was to evaluate middle ear exploration findings and frequency of ossicular and footplate area anomalies in patients with suspected otosclerosis referred to Amiralmomenin and Golsar Hospitals in Rasht, Iran.   Materials and Methods: In 47 patients undergone middle ear exploration in Amiralmomenin and Golsar hospitals from April 2001 to March 2011, the intraoperative findings, and other data were extracted from the medical records of the patients. The data was analyzed using SPSS 17 software.   Results: Frequency of fixation of stapes, malleus, and incus by age and sex in patients undergoing middle ear exploration showed that stapes had been fixed in 39 patients, malleus in 6 patients, and incus in 21 patients. Analysis of data showed that there was no significant association between sex and age with fixation of any of ossicles (P>0/05. Middle ear anomalies were seen in 16 cases (34.0%. Overhanging of facial nerve in 4 cases, thick stapedial crura in 5 cases, and perilymph gusher in 2 cases were the most frequent anomalies.   Conclusion:  This study show that the results of middle ear explorations in our patients in the north of Iran is somehow different from the typical otosclerotic cases, although the frequency of ossicular anomalies is better to be evaluated and compared in different areas of Iran, and other countries. 

  17. Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi Arabia

    International Nuclear Information System (INIS)

    Salih, Mustafa A.; Al-Jarallah, Ahmed A.; Kentab, Amal Y.; Murshid, Waleed R.; Zahraa, Jihad N.; Abdel-Gader, Abdel-Galil M.; Alorainy, Ibrahim A.; Hassan, Hamdy H.; Tjan, G. T.

    2006-01-01

    To explore the role of and report congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children. Children with stroke were evaluated at the Division of Pediatric Neurology (Dpn), or were seen as inpatients in the Pediatric Wards at King Khalid University Hospital (KKUH), Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Stroke work-up for each suspected case included hemostatic assays, serological, biochemical and neurophysiological tests. Neuroimaging modalities included routine skill x-rays, CT, MRI, magnetic resonance angiography (MRA) and conventional cerebral angiography. Of 104 children with stroke, congenital and genetic cerebrovascular anomalies were the underlying risk factor in 7 (6.7%). The patients were evaluated at the DPN at a mean age of 66 months (range = 8 months to 11 years, median = 6 years); and they had stroke at a mean age of 48 months (range = 2 months to 10 years, median = 8 months). Four patients had stroke in association with neurocutaneous syndromes. Two had Sturge-Weber syndrome (SWS), one had Klippel-Trenaunay syndrome associated with SWS, and the fourth had neurofibromatosis type 1. Two patients had intracranial hemorrhage secondary to ruptured aneurysm. A girl (aged 9 years and 4 months) had left posterior cerebral artery aneurysm. She was diagnosed to have autosomal dominant polycystic kidney disease following renal ultrasonography. She died 5 months later despite surgical intervention (clipping of aneurysm). The second child was an 8-months-old boy who presented with subarachnoid and intraventricular hemorrhage (IVH) following ruptured anterior communicating artery aneurysm. He recovered with no residual symptoms following successful clipping of the aneurysm. Arteriovenous malformation (AVM) caused IVH in a 7-year-old boy who reported to hospital 5 hours

  18. Presence of vascular anomalies with congenital hemihypertrophy and Wilms tumor: an evidence-based evaluation.

    Science.gov (United States)

    Kundu, Roopal V; Frieden, Ilona J

    2003-01-01

    Congenital hemihypertrophy is an uncommon condition of unknown etiology characterized by unilateral overgrowth of part or all of one side of the body. Hemihypertrophy is known to be associated with certain childhood tumors, most notably Wilms tumor (or nephroblastoma), and for this reason infants with hemihypertrophy are often followed with serial abdominal ultrasounds. Klippel-Trénaunay syndrome (KTS) is the triad of port-wine stain, venous varicosities, and soft tissue and/or bony hypertrophy. Children with KTS typically have localized rather than generalized hemihypertrophy, but occasionally the hypertrophy is more extensive than the vascular anomaly itself. Information is lacking about whether hemihypertrophy in this setting can also be a risk factor for Wilms tumor. We systematically reviewed the medical literature to determine whether well-documented cases of Wilms tumor in the setting of both hemihypertrophy and vascular anomalies have been described, and if found, whether the association was sufficiently frequent that routine screening for Wilms tumor in this setting should be recommended. A review of case reports and case series in the pediatric population was undertaken using specific inclusion and exclusion criteria. We found 4 of 58 subjects with hemihypertrophy and Wilms tumor had a reported vascular anomaly, but in only one case was a clear-cut diagnosis of KTS confirmed. The relationship of the other three vascular anomalies reported was of uncertain significance. In conclusion, our review suggests that the risk of Wilms tumor in the setting of localized soft-tissue hypertrophy in conjunction with a vascular malformation is quite low. More extensive hemihypertrophy extending to body sites remote from the vascular malformation itself could have a higher risk of Wilms tumor, although the magnitude of this risk is uncertain. Our findings suggest that routine serial abdominal ultrasounds in patients with vascular malformations in association with

  19. Effect of Maternal Diabetes on the Embryo, Fetus, and Children: Congenital Anomalies, Genetic and Epigenetic Changes and Developmental Outcomes

    Czech Academy of Sciences Publication Activity Database

    Ornoy, A.; Reece, E.A.; Pavlínková, Gabriela; Kappen, C.; Miller, R.K.

    2015-01-01

    Roč. 105, č. 1 (2015), s. 53-72 ISSN 1542-975X R&D Projects: GA MŠk(CZ) ED1.1.00/02.0109 Institutional research plan: CEZ:AV0Z50520701 Keywords : PGDM * GDM * congenital anomalies Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.120, year: 2015

  20. Cerebral monitoring during neonatal surgery for non-cardiac congenital anomalies: a first step to improve outcome?

    NARCIS (Netherlands)

    Stolwijk, L.J.

    2017-01-01

    Monitoring the newborn brain during surgery Cerebral monitoring in newborns, who require surgery in the first month of life, is important to protect the brain. The newborn brain is vulnerable during neonatal surgery. Newborn babies with a congenital anomaly requiring surgery in the first month of

  1. Paper 4 : EUROCAT Statistical Monitoring: Identification and Investigation of Ten Year Trends of Congenital Anomalies in Europe

    NARCIS (Netherlands)

    Loane, Maria; Dolk, Helen; Kelly, Alan; Teljeur, Conor; Greenlees, Ruth; Densem, James

    BACKGROUND: As part of EUROCAT's surveillance of congenital anomalies in Europe, a statistical monitoring system has been developed to detect recent clusters or long-term (10 year) time trends. The purpose of this article is to describe the system for the identification and investigation of 10-year

  2. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    NARCIS (Netherlands)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A.; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the

  3. Limb defects associated with major congenital anomalies : Clinical and epidemiological study from the international clearinghouse for birth defects monitoring systems

    NARCIS (Netherlands)

    Rosano, A; Botto, LD; Olney, RS; Khoury, MJ; Ritvanen, A; Goujard, J; Stoll, C; Cocchi, G; Merlob, P; Mutchinick, O; Cornel, MC; Castilla, EE; Martinez-Frias, ML; Zampino, G; Erickson, JD; Mastroiacovo, P

    2000-01-01

    Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring, me pooled data from II birth defect registries that are part of the International Clearinghouse

  4. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube

    NARCIS (Netherlands)

    Oostra, R. J.; Baljet, B.; Hennekam, R. C.

    1998-01-01

    The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies.

  5. Antenatal counselling for congenital anomaly tests: an exploratory video-observational study about client-midwife communication

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Gitsels-van der Wal, J.T.; Spelten, E.R.; Kuiper, F.; Pereboom, M.T.; Dulmen, S. van

    2015-01-01

    OBJECTIVE: antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client-midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions.

  6. Antenatal counselling for congenital anomaly tests: An exploratory video-observational study about client-midwife communication

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Gitsels–van der Wal, J.T.; Spelten, E.R.; Kuiper, F.; Pereboom, M.T.R.; van Dulmen, S.

    2015-01-01

    Objective: antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client-midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions.

  7. Antenatal counselling for congenital anomaly tests: an exploratory video-observational study about client-midwife communication.

    NARCIS (Netherlands)

    Martin, L.; Hutton, E.K.; Gitsels-van der Wal, J.T.; Spelten, E.R.; Kuiper, F.; Pereboom, M.T.R.; Dulmen, S. van

    2015-01-01

    Objective: antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client–midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions.

  8. Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract : A case-control study

    NARCIS (Netherlands)

    Groen In 't Woud, Sander; Renkema, Kirsten Y; Schreuder, Michiel F; Wijers, Charlotte H W; van der Zanden, Loes F M; Knoers, Nine V A M; Feitz, Wout F J; Bongers, Ernie M H F; Roeleveld, Nel; van Rooij, Iris A L M

    2016-01-01

    BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of birth defects with a variety of genetic and nongenetic factors suspected of involvement in the etiology. However, little is known about risk factors in specific CAKUT phenotypes. Therefore, we

  9. Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study

    NARCIS (Netherlands)

    Groen In 't Woud, S.; Renkema, K.Y.; Schreuder, M.F.; Wijers, C.H.W.; Zanden, L.F.M. van der; Knoers, N.V.A.M.; Feitz, W.F.; Bongers, E.M.; Roeleveld, N.; Rooij, I.A. van

    2016-01-01

    BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of birth defects with a variety of genetic and nongenetic factors suspected of involvement in the etiology. However, little is known about risk factors in specific CAKUT phenotypes. Therefore, we

  10. Anaesthetic Management of A Child with Multiple Congenital Anomalies Scheduled for Cataract Extraction

    Directory of Open Access Journals (Sweden)

    Kalpana Kulkarni

    2009-01-01

    Full Text Available In infants& children variety of conditions and syndromes are associated with difficult Airway. Anaesthetic management becomes a challenge if it remains unrecognized until induction and sometimes results in disaster, leading to oropharyngeal trauma, laryngeal oedema, cardiovascular& neurological complications. A 4-month-old child with multiple congenital anomalies was posted for cataract extraction for early and better development of vision. He had history of post birth respiratory distress, difficulty in feeding, breath holding with delayed mile stones. He was treated as for Juvenile asthma. This child was induced with inhalation anaesthesia. There was difficulty in laryngoscopic intubation and could pass much smaller size of the tube than predicted. He developed post operative stridor and desaturation. The problems which we faced during the anaesthetic management and during postoperative period are discussed with this case.

  11. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

    Science.gov (United States)

    Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog. © 2014 British Small Animal Veterinary Association.

  12. Impact of a child with congenital anomalies on parents (ICCAP questionnaire; a psychometric analysis

    Directory of Open Access Journals (Sweden)

    van Dijk Monique

    2008-11-01

    Full Text Available Abstract Background The objective of this study was to validate the Impact of a Child with Congenital Anomalies on Parents (ICCAP questionnaire. ICCAP was newly designed to assess the impact of giving birth to a child with severe anatomical congenital anomalies (CA on parental quality of life as a result of early stress. Methods At 6 weeks and 6 months after birth, mothers and fathers of 100 children with severe CA were asked to complete the ICCAP questionnaire and the SF36. The ICCAP questionnaire measures six domains: contact with caregivers, social network, partner relationship, state of mind, child acceptance, and fears and anxiety. Reliability (i.e. internal consistency and test-retest and validity were tested and the ICCAP was compared to the SF-36. Results Confirmatory factor analysis resulted in 6 six a priori constructed subscales covering different psychological and social domains of parental quality of life as a result of early stress. Reliability estimates (congeneric approach ranged from .49 to .92. Positive correlations with SF-36 scales ranging from .34 to .77 confirmed congruent validity. Correlations between ICCAP subscales and children's biographic characteristics, primary CA, and medical care as well as parental biographic and demographic variables ranged from -.23 to .58 and thus indicated known-group validity of the instrument. Over time both mothers and fathers showed changes on subscales (Cohen's d varied from .07 to .49, while the test-retest reliability estimates varied from .42 to .91. Conclusion The ICCAP is a reliable and valid instrument for clinical practice. It enables early signaling of parental quality of life as a result of early stress, and thus early intervention.

  13. Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies.

    Science.gov (United States)

    Li, Ru; Fu, Fang; Zhang, Yong-Ling; Li, Dong-Zhi; Liao, Can

    2014-12-01

    The objective of this study was to characterize the genetic abnormalities in two fetuses with congenital anomalies in prenatal screening. The mother of Fetus 1 was 26 years old and had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound and magnetic resonance imaging (MRI) at 28 weeks of gestation showed mild ventriculomegaly, microcephaly, and agenesis of the corpus callosum. The mother of Fetus 2 was 25 years old and also had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 32 weeks of gestation showed the presence of hyperechogenic and enlarged kidneys with multicystic renal dysplasia bilaterally and a persistent left superior vena cava (PLSVC). Both pregnant women underwent cord blood samplings because of the abnormal imaging results. Karyotype analysis revealed normal results in the two fetuses. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the cord blood and parental blood samples. Ultimately, the pregnancies were both terminated. CMA detected a 1.56-Mb duplication at 17q12 in Fetus 1 and a 1.93-Mb deletion of 17q12 in Fetus 2. Both the duplicated and deleted regions included the HNF1B and LHX1 genes. Neither the duplication nor deletion was inherited from the parents. This study is the first to report the prenatal diagnosis of a 17q12 duplication syndrome. Our results further confirmed that genes in this region, including HNF1B and LHX1, are essential for normal brain and kidney development, and also indicated some genes that may be associated with the cardiovascular abnormality. Combined with imaging examination, the use of CMA will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies. Copyright © 2014. Published by Elsevier B.V.

  14. CT of temporal bone - IV. inner ear

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Jae Yoon; Sung, Kyu Bo; Youn, Eun Kyoung; Park, Youn Kyeung; Lee, Young Uk [Koryo general Hospital, Seoul (Korea, Republic of)

    1990-07-15

    Temporal bone CT was done in 697 patients from April 1985 to October 1989. The abnormal findings were seen in 453 patients, which were chronic otitis media in 355 patients, fracture in 49 patients and congenital anomaly in 44 patients, etc. The abnormal findings of inner ear were observed on 46 patients. The results were summarized as follows : 1. The incidence of inner ear involvement by chronic otitis media was 7.3% (26/355 : labyrinthine fistula in 17 patients, labyrinthitis ossificans in 9 patients). Labyrinthine fistula was most commonly located on lateral semicircular canal (15/17, 88.2%). 2. Fusion of vestibule with lateral semicircular canal and formation of common cavity was demonstrated incidentally in 5 patients (0.7% of total number of temporal bone CT), and bilateral in 3 patients. 3. The incidence of inner ear anomaly in congenital ear anomaly was 11.4% (5/44). All cases were bilateral and three patients showed associated middle ear anomaly. 4. The incidence of involvement of bony labyrinth in temporal bone fracture was 10.2% (5/49). Labyrinthine fracture was seen all patients of transverse(3) and mixed fracture(1). In longitudinal fracture, labyrinthine fracture was seen in 2.2% (1/45). 5. Others were traumatic labyrinthitis ossificans(1), intracanalicular acoustic neuroma(3) and facial nerve neuroma(1)

  15. Maternal obesity is associated with congenital anomalies of the kidney and urinary tract in offspring.

    Science.gov (United States)

    Macumber, Ian; Schwartz, Stephen; Leca, Nicolae

    2017-04-01

    Congenital abnormalities of the kidney and urinary tract (CAKUT) are diagnosed in up to 1 % of pregnancies and account for 20-30 % of the abnormalities identified in the prenatal period. In previous studies, maternal obesity has been associated with congenital malformations in offspring. Our aim was to evaluate the association between maternal obesity [body mass index (BMI) ≥ 30 kg/m 2 ] and CAKUT in offspring. We conducted a population-based, case-control study using linked birth-hospital discharge records from Washington State, 2003-2012. We identified 3093 CAKUT cases using International Classification of Diseases, Ninth Revision (ICD-9) codes. Controls were defined as births without any ICD-9 codes denoting congenital malformations, matched to cases by year of birth in an approximate 4:1 ratio. Compared to controls, mothers giving birth to infants with CAKUT were more likely to be obese [odds ratio (OR) 1.24, 95 % confidence interval (CI) 1.11-1.38]. We found a significant positive trend between odds of CAKUT in offspring and increasing severity of obesity (score test for trend of odds p < 0.001). This association remained significant in offspring with isolated CAKUT (OR 1.19, 95 % CI 1.06-1.35) and upper urinary tract anomalies (OR 1.26, 95 % CI 1.13-1.41). Maternal overweight (BMI 25-29.9 kg/m 2 ) was not associated with CAKUT in offspring. Our results demonstrate a positive association between maternal obesity and CAKUT in offspring, as well as between obesity severity and the odds of CAKUT in offspring. These findings provide additional evidence for the public health importance of obesity, particularly as a potentially modifiable risk factor.

  16. Patterns of first-year survival among infants with selected congenital anomalies in Texas, 1995-1997.

    Science.gov (United States)

    Nembhard, W N; Waller, D K; Sever, L E; Canfield, M A

    2001-11-01

    Few registry-based studies have investigated survival among infants with congenital anomalies. We conducted a registry-based study to examine patterns and probability of survival during the first year of life among infants with selected congenital anomalies. Data from the Texas Birth Defects Monitoring Division were merged with linked birth-infant death files for 2,774 infants born January 1, 1995 to December 31, 1997, with at least 1 of 23 common anomalies. Deaths before the first birthday were assessed from infant death files. Kaplan-Meier was used to estimate first-year survival; first-year survival was assessed for specific anomalies and by the number of life-threatening anomalies. Overall, 80.8% of infants with these 23 anomalies survived the first year of life. We observed the highest survival rates for infants with gastroschisis (92.9%, 95% CI = 86.8, 96.3), trisomy 21 (92.3%, 95% CI = 89.5, 94.4) or cleft lip with or without cleft palate (87.6%, 95% CI = 84.0, 90.5). Infants with intermediate survival rates included those with microcephaly (79.7%; 95% CI = 73.6, 84.6), tetralogy of Fallot (75.0%; 95% CI = 65.5, 82.2), or with diaphragmatic hernia (72.8%; 95% CI = 61.8, 81.2). As expected, all infants with anencephaly and almost all infants with trisomy 13 or trisomy 18 died during the first year of life. First-year survival declined as the number of co-occurring life-threatening anomalies increased. Overall, first-year survival for infants with congenital anomalies was high. Additional population-based studies are needed to quantify improvements in first-year survival. Copyright 2001 Wiley-Liss, Inc.

  17. Exposure to air pollution and noise from road traffic and risk of congenital anomalies in the Danish National Birth Cohort

    DEFF Research Database (Denmark)

    Pedersen, Marie; Garne, Ester; Hansen-Nord, Nete

    2017-01-01

    Background: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. Methods: Among 84,218 liveborn singletons (1997–2002) from the Danish...... National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO2) and noise from road traffic (Lden) burden during fetal life was modeled. Outcome and covariate data were derived...... from registries, hospital records and questionnaires. Odds ratios (ORs) for eleven major anomaly groups associated with road traffic pollution during first trimester were estimated using logistic regression with generalized estimating equation (GEE) approach. Results: Most of the associations tested...

  18. Perinatal outcomes of polyhydramnios without associated congenital fetal anomalies after the gestational age of 20 weeks.

    Science.gov (United States)

    Chen, Kuang-Chao; Liou, Jui-Der; Hung, Tai-Ho; Kuo, Dong-Ming; Hsu, Jenn-Jeih; Hsieh, Ching-Chang; Hsieh, Tsang-Tang

    2005-04-01

    Polyhydramnios carries a high rate of complications during pregnancy and adverse perinatal outcomes. We could find no studies of this condition in a large Asian population. The aim of this investigation was to evaluate the risks of adverse perinatal outcomes in a large study population with polyhydramnios without associated fetal anomalies after the gestational age of 20 weeks in Taiwan. We retrospectively reviewed the computerized records of women who had babies without associated fetal anomalies after the gestational age of 20 weeks at Chang Gung Memorial Hospital from July 1990 to December 2001. Possible confounding factors that could affect the occurrence of polyhydramnios were analyzed. We then investigated the relative risks of these events to adverse perinatal outcome by adjusting the variants. Significantly higher incidences of preeclampsia, placental abruption, placenta accreta, past history of fetal death or preterm delivery, multiple pregnancy, bodyweight gain > or = 20kg during pregnancy and primiparity were noted in patients with polyhydramnios than in patients without this condition. The presence of polyhydramnios significantly increased the rate of preterm delivery, low birth weight or very low birth weight, low one- and five-minute Apgar scores, fetal death, large for gestational age babies, meconium-stained amniotic fluid, Cesarean section, fetal distress in labor, NICU transfer and neonatal death. Polyhydramnios carried a higher incidence of adverse perinatal outcomes, such as low Apgar scores, fetal death, fetal distress in labor, NICU transfer and neonatal death, despite exclusion of congenital anomalies from the study population. Detailed antepartum fetal well-being surveillance, intensive intrapartum monitoring and further attention postpartum are warranted in patients with this condition.

  19. The rate of congenital anomalies as a healthy index component in the pediatric population of a region

    Directory of Open Access Journals (Sweden)

    N. V. Polunina

    2014-01-01

    Full Text Available According to the data of Russian and international statistical offices, the rate of congenital malformations is on the rise This rate differs in the regions of one country; for instance, in Russia it ranges from 11,99 per 1,000 children in the Kursk Region and 12,27 in Ryazan to 40,03 in Chuvashia and 43,17 in North Ossetia. The paper gives the results of studying the rate of congenital malformations in the Republic of Sakha (Yakutia, which have indicated an increase in its morbidity in the Promyshnennyi and Vilyui group of areas versus other areas where the population is mainly employed in agriculture. It also shows the pattern of congenital anomalies in the Republic. The prevalence of congenital malformations affects infant mortality rates and it is one of the major factors of disability in the pediatric population.

  20. Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging.

    Science.gov (United States)

    Trenga, Anthony P; Singla, Anuj; Feger, Mark A; Abel, Mark F

    2016-08-01

    Congenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases. All patients aged ≤13 years (n = 75) presenting to the pediatric spine clinic from 2003-2013 with congenital bony spinal deformity and both radiographs and MRI were analyzed retrospectively for bone and neural pathology. Chi-squared analysis was used to compare groups for categorical dependent variables. Independent t tests were used for continuous dependent variables. Significance was set at p formation had a higher incidence of cord anomalies (73 %) than failures of formation (50 %) or segmentation (45 %) alone (p = 0.065). Deformities in the sacrococcygeal area had the highest rate of spinal cord anomalies (13 of 15 patients, 87 %). In 35 cases (47 %), MRI revealed additional bony anomalies that were not seen on the radiographs. As the number of bony malformations increased, we found a higher incidence of cord anomalies. Clinicians should have increased suspicion of spinal cord pathology in the presence of mixed failures of segmentation and formation.

  1. Treacher-Collins syndrome. Management of major and minor anomalies of the ear.

    Science.gov (United States)

    Marres, H A; Cremers, C W; Marres, E H

    1995-01-01

    12 patients suffering from a Treacher-Collins syndrome, or mandibulo-facial dysostosis, were operated on in the Nijmegen University Hospital between 1960 and 1990. An early diagnosis is generally reached when there is a congenital atresia of the auditory canal. Auditory rehabilitation with a conventional prosthesis of the bone or a BAHA is preferable to surgical reconstruction. In minor cases, deafness must be screened as early as possible, with a bone hearing aid prosthesis. Surgical exploration can be performed at best as the age of 10, but the chances of success are less than those of other functional reconstructions because of the associated malformation.

  2. Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity.

    Science.gov (United States)

    Graham, J M; Phelps, P D; Michaels, L

    2000-01-01

    The objective of this review is to analyze aspects of congenital malformation of the ear in relation to cochlear implantation in children. Having briefly described the in utero development of the ear and the classification of types of external, middle and inner ear malformation, five practical aspects of these malformations are discussed. It seems likely that the combination of bilateral profound sensorineural deafness with bilateral microtia severe enough to make a surgical approach to the cochlea difficult will be extremely uncommon. No such cases have been reported, although Klippel-Feil deformity seems the syndrome most likely to produce this set of circumstances. Abnormalities in the intratympanic course of the facial nerve have been associated with cochlear malformation, emphasizing the benefit of intra-operative facial nerve monitoring, and a technique suggested for safely avoiding an abnormally placed nerve. Fistulae of cerebrospinal fluid (CSF) and perilymph can complicate surgery and are relatively common in common cavity and Mondini malformations. Strategies for facilitating surgery in the presence of 'gushers', for measuring the pressure of a gusher and for placement of the cochlear implant electrode array are reviewed, with reports of fluctuating levels of electric current when implants lie in dysplastic cochleas. The relationship of implant performance to VIIIth nerve tissue in malformed cochleas is discussed, with a description of the histological findings in a common cavity cochlea. Techniques for identifying the absence of the cochlear nerve are reviewed. Stimulation of the facial nerve by cochlear implants has been described in cases of congenital malformation of the labyrinth but is relatively uncommon. Case reports of the benefit received by implanted children with congenital cochlear malformation have appeared since 1988. Most cases reported have not yet been followed for long enough to establish a clear picture of the outcome following

  3. Trends in the prevalences of congenital anomalies and age at motherhood in a southern European region: a population-based study

    Science.gov (United States)

    Cambra, K; Ibañez, B; Urzelai, D; Portillo, I; Montoya, I; Esnaola, S; Cirarda, F B

    2014-01-01

    Objectives To estimate the prevalences of the main groups of congenital anomalies and to assess their trend over time. Design Population-based study of prevalences. Setting The Basque Country, Spain. Participants All births and all congenital anomalies diagnosed prenatally, at birth or during the first year of age, in all hospitals of the country, from 1999 to 2008. Main outcomes measures Total diagnosed prevalences and prevalences at birth of all chromosomal and non-chromosomal anomalies, Down's syndrome, anomalies of the nervous system, urinary, limbs, digestive system and congenital heart defects. Results Mean age (SD) of women at childbirth and the proportion of them over 35 years of age shifted from 32.1 (4.5) years, with 18.3% in 1999–2001, to 32.3 (4.7) years, with 23.9% in 2006–2008. Between 1999 and 2008, 991 cases of chromosomal anomalies and 3090 of non-chromosomal anomalies were diagnosed, which yields, respectively, total prevalences of 5.2‰ and of 16.2‰. Among chromosomal anomalies, Down's syndrome is the most frequent (2.9‰). With marginal statistical significance, the results point at an increasing trend in total diagnosed chromosomal anomalies, but a decreasing one in prevalences at birth. Among non-chromosomal congenital anomalies, congenital heart defects are the most frequent (5.2‰) one. Rates of all non-chromosomal, urinary and limb anomalies grew during the study period, whereas those of congenital heart defects and anomalies of the digestive system did not change significantly. Conclusions In the Basque Country, rates of chromosomal anomalies are higher than the overall estimated prevalence in European countries, and continue to increase slightly, which may be related to the rise in maternal age. Rates of non-chromosomal anomalies are within the European frequent range of values, and the increases observed need to be checked in the following years. PMID:24589823

  4. Effects of Air Pollution on the Risk of Congenital Anomalies: A Systematic Review and Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Esther Kai-Chieh Chen

    2014-07-01

    Full Text Available Congenital anomalies are the main causes of preterm and neonatal mortality and morbidity. We investigated the association between congenital anomalies and mothers’ exposure to air pollution during pregnancy by combining risk estimates for a variety of air pollutants (SO2, NO2, PM10, PM2.5, CO and O3 and anomaly defect outcomes. Seventeen articles were included in the systematic review and thirteen studies were taken into account in the meta-analysis. Combined estimated were calculated separately according to whether the exposure metric was continuous or categorical. Only one significant combination was; NO2 concentrations were significantly associated with coarctation of the aorta (OR = 1.20 per 10 ppb, 95% CI, (1.02, 1.41. This finding could stem from strong heterogeneity in study designs. Improved exposure assessment methods, in particular more accurate spatial measurements or modeling, standardized definition of cases and of better control of confounders are highly recommended for future congenital anomalies research in this area.

  5. Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.

    Science.gov (United States)

    Belligni, Elga F; Hennekam, Raoul C M

    2010-01-01

    We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in addition a partial cutaneous syndactyly between the third and fourth fingers, an increased distance between second and third finger, and a decreased smell. We have not been unable to find other patients described in literature with the same combination of features, and suggest this to represent a hitherto unrecognizable entity. Pattern of inheritance is likely to be autosomal dominant. Copyright 2010 Elsevier Masson SAS. All rights reserved.

  6. Cochlear implantation in the Mondini inner ear malformation.

    Science.gov (United States)

    Miyamoto, R T; Robbins, A J; Myres, W A; Pope, M L

    1986-07-01

    We report the case of a profoundly deaf 4-year-old boy with congenital deafness as a result of Mondini's dysplasia. The Mondini inner ear malformation is the result of arrested labyrinthine development during embryogenesis and is characterized by both bony and membranous anomalies of the inner ear. The dysplastic cochlear anatomy does not preclude successful cochlear implantation, and electrical threshold measurements are similar to those recorded in pediatric subjects deafened as a result of other causes.

  7. Anomalies.

    Science.gov (United States)

    Online-Offline, 1999

    1999-01-01

    This theme issue on anomalies includes Web sites, CD-ROMs and software, videos, books, and additional resources for elementary and junior high school students. Pertinent activities are suggested, and sidebars discuss UFOs, animal anomalies, and anomalies from nature; and resources covering unexplained phenonmenas like crop circles, Easter Island,…

  8. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

    OpenAIRE

    Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Bar?y, Tuva; Holmgren, Asbj?rn; Stray-Pedersen, Asbj?rg; Bryceson, Yenan T.; Str?mme, Petter; Frengen, Eirik; Misceo, Doriana

    2016-01-01

    Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers w...

  9. No increased risk of major congenital anomalies or adverse pregnancy or neonatal outcomes following letrozole use in assisted reproductive technology.

    Science.gov (United States)

    Tatsumi, T; Jwa, S C; Kuwahara, A; Irahara, M; Kubota, T; Saito, H

    2017-01-01

    Does letrozole use increase the risk of major congenital anomalies and adverse pregnancy and neonatal outcomes in fresh, single-embryo transfer? Letrozole significantly decreases the risk of miscarriage and does not increase the risk of major congenital anomalies or adverse pregnancy or neonatal outcomes compared with natural cycles in patients undergoing ART. Letrozole is the most commonly used aromatase inhibitor for mild ovarian stimulation in ART. However, its safety in terms of pregnancy and neonatal outcomes is unclear. This retrospective cohort study used data from the Japanese national ART registry from 2011 to 2013. A total of 3136 natural cycles and 792 letrozole-induced cycles associated with fresh, single-embryo transfer and resulting in a clinical pregnancy were included in the analysis. The main pregnancy outcomes were miscarriage, ectopic pregnancy and still birth, and the neonatal outcomes were preterm delivery, low birth weight, small/large for gestational age and major congenital anomalies. Terminated pregnancies were included in the analysis of major congenital anomalies. Odds ratios (ORs) and 95% CIs were calculated using multivariate logistic regression analysis adjusted for maternal age and calendar year. The risk of miscarriage was significantly lower in women administered letrozole (adjusted OR [aOR], 0.37, 95% CI, 0.30-0.47, P women undergoing ART. Letrozole may thus be a safe option for mild ovarian stimulation. None. Not applicable. © The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  10. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    OpenAIRE

    Miller, David T.; Adam, Margaret P.; Aradhya, Swaroop; Biesecker, Leslie G.; Brothman, Arthur R.; Carter, Nigel P.; Church, Deanna M.; Crolla, John A.; Eichler, Evan E.; Epstein, Charles J.; Faucett, W. Andrew; Feuk, Lars; Friedman, Jan M.; Hamosh, Ada; Jackson, Laird

    2010-01-01

    Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, incl...

  11. Congenital keratoglobus with multiple cardiac anomalies: a case presentation and literature review.

    Science.gov (United States)

    Ozer, Pinar A; Yalniz-Akkaya, Zuleyha

    2015-07-01

    Keratoglobus is a rare condition of bilateral corneal ectasia, which results in high myopia, irregular astigmatism, scarring, and rarely spontaneous globe rupture. Globoid protrusion of a clear, diffusely thin cornea is the pathology. The congenital form has been associated with blue sclera in which there is a systemic connective tissue disorder with abnormal collagen synthesis like Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. Some concomitant abnormalities reported with kertoglobus include joint hypermobility, dental and skeletal abnormalities, osteal fragility, and deafness. Acquired forms have been reported to be associated with vernal keratoconjunctivitis and thyroid ophthalmopathy. We report the case of a 16-year-old boy with keratoglobus who presented with a history of photophobia and a low vision in both eyes since birth. He has been followed up by our pediatric cardiology department due to multiple cardiac anomalies. He had hypermobility of large joints, easy bruising, thin and hyperextensible skin with visible veins, which were also described in his elder brother. We aimed to discuss the etiology and the association of keratoglobus with some systemic abnormalities caused by collogen tissue disturbance, and make a brief review about the recent literature concerning the management of keratoglobus patients.

  12. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism.

    Science.gov (United States)

    Léger, Juliane; Marinovic, Daniella; Garel, Catherine; Bonaïti-Pellié, Catherine; Polak, Michel; Czernichow, Paul

    2002-02-01

    Congenital hypothyroidism (CH) is most frequently caused by thyroid developmental abnormalities and it has recently been seen to have a familial component. The aim of this study was to investigate whether thyroid developmental abnormalities exist in first degree relatives of CH children with thyroid dysgenesis, an anomaly which, when present, is sometimes asymptomatic. Thyroid ultrasonography and function were evaluated among first degree relatives (n = 241) of 84 isolated CH children with thyroid dysgenesis. The results were compared with those of an unselected control population (n = 217). In 19 individuals (7.9% of cases) belonging to 18 families (21.4%), 21 cases of thyroid developmental abnormalities were detected, whereas only 2 subjects (0.9%) were affected in controls (P abnormalities included thyroglossal duct cysts (n = 14), additional thyroid tissue with presence of a pyramidal lobe (n = 3), thyroid hemiagenesis (n = 3), and ectopic thyroid tissue (n = 1). All of these subjects showed normal thyroid function and belonged to nuclear families of CH children with athyreosis (n = 8), ectopic thyroid tissue (n = 9), or hemiagenesis (n = 1). A segregation analysis led to the conclusion that thyroid developmental abnormalities are compatible with an autosomal dominant mode of inheritance with a low penetrance estimated at 21% for asymptomatic thyroid developmental abnormalities and a probability of less than 7% of developing CH for a carrier of the susceptibility allele. In conclusion, these observations support the hypothesis of a common genetic component of the disorder with heterogeneous phenotypes.

  13. Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?

    Directory of Open Access Journals (Sweden)

    Ihor V. Yosypiv

    2012-01-01

    Full Text Available Congenital anomalies of the kidney and urinary tract (CAKUTs occur in 3–6 per 1000 live births, account for the most cases of pediatric end-stage kidney disease (ESKD, and predispose an individual to hypertension and cardiovascular disease throughout life. Although CAKUTs are a part of many known syndromes, only few single-candidate causative genes have been implicated so far in nonsyndromic cases of human CAKUT. Evidence from mouse models supports the hypothesis that non-syndromic human CAKUT may be caused by single-gene defects. Because increasing numbers of children with CAKUT are surviving to adulthood, better understanding of the molecular pathogenesis of CAKUT, development of new strategies aiming at prevention of CAKUT, preservation of renal function, and avoidance of associated cardiovascular morbidity are needed. In this paper, we will focus on the knowledge derived from the study of syndromic and non-syndromic forms of CAKUT in humans and mouse mutants to discuss the role of genetic, epigenetic, and in utero environmental factors in the pathogenesis of non-syndromic forms of CAKUT in children with particular emphasis on the genetic contributions to CAKUT.

  14. A community-based survey of visible congenital anomalies in rural Tamil Nadu

    Directory of Open Access Journals (Sweden)

    Sridhar K

    2009-10-01

    Full Text Available An extensive community-based survey of visible congenital defects covering 12.8 million children in rural Tamil Nadu state was conducted during the years 2004-05. A door-to-door survey was done utilizing the existing health care delivery system. More than 10,000 village health nurses were involved to collect the data. All children between the ages of 0 and 15 years were seen. The children with defects were seen by a medical officer and diagnosis was made as per chart. A total of 1.30% of children were born with some visible anomalies. The male:female ratio was 1.3:1. There was a family history in 9% and consanguinity in 32%. More than 5% mothers had taken some medication in the first trimester of pregnancy out of which anti-convulsants were 3.4%. Facial clefts showed a lower incidence of 1 in 1976 live births with peak incidence between March and June. Cleft palate alone showed a higher percentage (30% than other studies.

  15. Study of the Radial Peripapillary Capillary Network in Congenital Optic Disc Anomalies With Optical Coherence Tomography Angiography.

    Science.gov (United States)

    Cennamo, Gilda; Rossi, Claudia; Ruggiero, Pasquale; de Crecchio, Giuseppe; Cennamo, Giovanni

    2017-04-01

    To evaluate the radial peripapillary capillary network with optical coherence tomography angiography (angio-OCT) in morning glory syndrome (MGS), optic disc colobomas, and optic disc pits, and to explore possible correlations between the neural vascular structure and the pathogenesis of congenital optic disc anomalies. Prospective observational comparative case series. Fifteen eyes of 15 patients with congenital optic disc anomalies were enrolled in this study. All patients underwent angio-OCT. The scans were centered on optic discs. The mean age at presentation was 33 years (range: 19-50 years). Congenital optic disc anomalies were identified in all 15 eyes. Three eyes had the characteristic funduscopic signs of MGS, and angio-OCT scans of the peripapillary retina revealed a dense microvascular network. Optic disc colobomas were found in 5 eyes, and the characteristic funduscopic signs of optic pits were found in 7 eyes. Angio-OCT showed the absence of a radial peripapillary microvascular network in these 12 eyes. The finding that angio-OCT scans confirmed the presence of a peripapillary microvascular network only in MGS cases supports the hypothesis that a primary neuroectodermal abnormality and a secondary mesenchymal abnormality leads to MGS. Angio-OCT is a safe, rapid imaging technique that could shed light on the pathogenesis of rare diseases of the optic disc. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population

    DEFF Research Database (Denmark)

    Crijns, Hubertina J M J; Jentink, Janneke; Garne, Ester

    2011-01-01

    To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-α (TNF-α) antagonist and the general population.......To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-α (TNF-α) antagonist and the general population....

  17. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  18. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  19. A Population-Based Case-Control Study of Drinking-Water Nitrate and Congenital Anomalies Using Geographic Information Systems (GIS) to Develop Individual-Level Exposure Estimates

    Science.gov (United States)

    Holtby, Caitlin E.; Guernsey, Judith R.; Allen, Alexander C.; VanLeeuwen, John A.; Allen, Victoria M.; Gordon, Robert J.

    2014-01-01

    Animal studies and epidemiological evidence suggest an association between prenatal exposure to drinking water with elevated nitrate (NO3-N) concentrations and incidence of congenital anomalies. This study used Geographic Information Systems (GIS) to derive individual-level prenatal drinking-water nitrate exposure estimates from measured nitrate concentrations from 140 temporally monitored private wells and 6 municipal water supplies. Cases of major congenital anomalies in Kings County, Nova Scotia, Canada, between 1988 and 2006 were selected from province-wide population-based perinatal surveillance databases and matched to controls from the same databases. Unconditional multivariable logistic regression was performed to test for an association between drinking-water nitrate exposure and congenital anomalies after adjusting for clinically relevant risk factors. Employing all nitrate data there was a trend toward increased risk of congenital anomalies for increased nitrate exposure levels though this was not statistically significant. After stratification of the data by conception before or after folic acid supplementation, an increased risk of congenital anomalies for nitrate exposure of 1.5–5.56 mg/L (2.44; 1.05–5.66) and a trend toward increased risk for >5.56 mg/L (2.25; 0.92–5.52) was found. Though the study is likely underpowered, these results suggest that drinking-water nitrate exposure may contribute to increased risk of congenital anomalies at levels below the current Canadian maximum allowable concentration. PMID:24503976

  20. Congenital malformations of the inner ear and the vestibulocochlear nerve in children with sensorineural hearing loss: evaluation with CT and MRI.

    Science.gov (United States)

    Westerhof, J P; Rademaker, J; Weber, B P; Becker, H

    2001-01-01

    The purpose of this work was to study the diagnostic value of CT and MRI in children with sensorineural hearing loss and to analyze anatomic abnormalities of the inner ear and the vestibulocochlear nerve in this patient group. We evaluated 42 inner ears in 21 children with congenital deafness who had congenital inner ear malformations and who were candidates for cochlear implants. All patients were studied with high resolution MR and helical CT examinations. The MR study included a T2-weighted 3D fast SE sequence. We describe and tabulate the anatomic abnormalities. Special attention was given to abnormalities of the vestibulocochlear nerve. The field of view in the plane according to the length axis of the internal auditory canal (IAC) was 4 cm. Additional continuous parasagittal reformations perpendicular to the length axis of the IAC were studied with a field of view of 3 cm. CT and MRI allowed accurate identification of malformations of the inner ear in children with congenital deafness. We identified 99 malformations, with a majority of patients demonstrating multiple abnormalities. Common imaging findings were Mondini abnormality and Mondini variants (12/42) and fusion of the lateral or superior semicircular canal with the vestibule (12/42). MRI demonstrated in 9 of 21 patients a rudimentary or absent vestibulocochlear nerve in the auditory canal. CT and MRI are important modalities to analyze the inner ear in children who are candidates for cochlear implants. MRI with an extremely small field of view should be used to study possible abnormalities of the vestibulocochlear nerves. This may alter clinical care and allow cochlear implant placement in patients whose electrodiagnostic studies suggest that the implant should not be performed. The detailed analysis of abnormalities of the inner ear might establish prognostic factors.

  1. Presence of accessory penis, colonic duplication and several other congenital anomalies in a child: a very rare association.

    Science.gov (United States)

    Chatterjee, Sayan; Mondal, Prabodh Chandra; Pandey, Shashi Bhushan; Achar, Arun

    2014-10-01

    An accessory penis is a very rare anomaly. Only five cases have been reported thus far to our knowledge. We present the case of a child aged 2 years and 10 months who had a penis-like structure (containing phallus and glans) attached to the right buttock. Associated anomalies were a non-communicating type of colonic duplication, a paramedian stenosed anal opening, a horse-shoe kidney, posterior urethral valves, scoliosis of the lumbo-sacral spine, polydactyly and equino-varus deformity of the right foot. As far as we can tell, this is the first report of an accessory penis associated with colonic duplication and other congenital anomalies. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  2. [Cochlear implant in patients with congenital malformation of the inner ear].

    Science.gov (United States)

    Wan, Liang-cai; Guo, Meng-he; Qian, Yu-hong; Liu, Shuang-xiu; Zhang, Hong-zheng; Chen, Shuai-jun; Chen, Hao; Gong, Jian

    2009-10-01

    To summarize the clinical experience with multi-channel cochlear implantation in patients with inner ear malformations and evaluate and the outcomes of speech rehabilitation. A retrospective study was conducted in 295 patients receiving cochlear implantation from 1998 to 2007, including 25 patients with large vestibular aqueduct syndrome (LVAS), 9 with Modini malformation, and 5 with common cavity deformity. All the patients received the Nucleus24 cochlear implants. In LVAS cases, 4 had Nucleus 24R (ST) implants, 8 had Contuor implants, 10 had Contuor Advance, and the remaining cases used Nucleus24(M) straight-electrode implants. Severe gusher appeared in 3 cases of LVAS, and perilymph fluctuation were seen in other 15 cases. Four patients with Mondini malformation and 2 with common cavity malformation also experienced severe gusher, but the electrodes were inserted smoothly in all the patients without postoperative facial paralysis or cerebrospinal fluid leakage. The hearing threshold in these patients was similar to that in patients with normal cochlear structure. After speech rehabilitation for over 6 months, the abilities of speech discrimination and spoken language improved in all the cases in comparison with the preoperative lingual functions. Multi-channel cochlear implantation can be performed in patients with inner ear malformation, but should not be attempted in patients with poor cochlear and cochlear nerve development. A comprehensive pre-operative radiographic and audiological evaluation is essential.

  3. Exposure to metals and congenital anomalies: A biomonitoring study of pregnant Bedouin-Arab women

    Energy Technology Data Exchange (ETDEWEB)

    Karakis, Isabella [Environmental Epidemiology Department, Ministry of Health, Jerusalem (Israel); Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Department of Public Health, The Ashkelon Academic College, Ashkelon (Israel); Landau, Daniella [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Department of Neonatology, Soroka University Medical Center, Beer-Sheva (Israel); Yitshak-Sade, Maayan [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Clinical Research Center, Soroka University Medical Center, Beer-Sheva (Israel); Hershkovitz, Reli [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Ultrasound Unit, Department of Obstetrics and Gynecology, Soroka University Medical Center, Beer-Sheva (Israel); Rotenberg, Michal [Laboratory of Clinical Toxicology and Pharmacology, Sheba Medical Center, Tel-Hashomer (Israel); Sarov, Batia [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Grotto, Itamar [Environmental Epidemiology Department, Ministry of Health, Jerusalem (Israel); Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel); Public Health Services, Ministry of Health, Jerusalem (Israel); Novack, Lena, E-mail: novack@bgu.ac.il [Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva (Israel)

    2015-06-01

    Background: The Bedouin-Arab population in Israel comprises a low socio-economic society in transition. Smoking among males and consanguineous marriages are frequent. A previous study showed elevated rates of major malformations within groups from this population residing near an industrial park, where high ambient values of arsenic (As) and nickel (Ni) were detected, compared to groups living in remote localities. Objectives: We estimated the extent of exposure to metals in pregnant Bedouin-Arab women in relation to congenital malformations. Methods: We collected maternal urine samples from 140 Bedouin women who gave birth in a local hospital. Patient medical history, type of marriage (consanguineous or non-consanguineous), and parental exposure history were collected by interview and medical records. Results: Aluminum (Al) was detected in 37 women (26.4%), cadmium (Cd) in 2 (1.4%), As in 10 (7.1%), and Ni in 1 woman (0.7%). The detected rate of Cd exposure was low, though more than 92% of the fathers reported smoking. Concentrations of Al were higher for women residing within 10 km of the local industrial park (Prevalence Ratio (PR) = 1.12, p-value = 0.012) or who reported using a wood burning stove (PR = 1.37, p-value = 0.011) and cooking over an open fire (PR = 1.16, p-value = 0.076). Exposure to Al was adversely associated with minor anomalies (OR = 3.8, p-value = 0.046) after adjusting for history of abortions (OR = 6.1, p-value = 0.007). Fetuses prenatally exposed to As were born prematurely (p-value = 0.001) and at lower weights (pv = 0.023). Conclusions: The study population of pregnant women is exposed to high levels of metals mainly of household origin. Our findings may be generalized to similar populations in developing countries. - Highlights: • Almost a third of the pregnant women had a detectable metal in their urine. • Aluminum and Arsenic were the most prevalent metals in urine. • The study investigates pregnant women exposed to a hazardous

  4. Exposure to metals and congenital anomalies: A biomonitoring study of pregnant Bedouin-Arab women

    International Nuclear Information System (INIS)

    Background: The Bedouin-Arab population in Israel comprises a low socio-economic society in transition. Smoking among males and consanguineous marriages are frequent. A previous study showed elevated rates of major malformations within groups from this population residing near an industrial park, where high ambient values of arsenic (As) and nickel (Ni) were detected, compared to groups living in remote localities. Objectives: We estimated the extent of exposure to metals in pregnant Bedouin-Arab women in relation to congenital malformations. Methods: We collected maternal urine samples from 140 Bedouin women who gave birth in a local hospital. Patient medical history, type of marriage (consanguineous or non-consanguineous), and parental exposure history were collected by interview and medical records. Results: Aluminum (Al) was detected in 37 women (26.4%), cadmium (Cd) in 2 (1.4%), As in 10 (7.1%), and Ni in 1 woman (0.7%). The detected rate of Cd exposure was low, though more than 92% of the fathers reported smoking. Concentrations of Al were higher for women residing within 10 km of the local industrial park (Prevalence Ratio (PR) = 1.12, p-value = 0.012) or who reported using a wood burning stove (PR = 1.37, p-value = 0.011) and cooking over an open fire (PR = 1.16, p-value = 0.076). Exposure to Al was adversely associated with minor anomalies (OR = 3.8, p-value = 0.046) after adjusting for history of abortions (OR = 6.1, p-value = 0.007). Fetuses prenatally exposed to As were born prematurely (p-value = 0.001) and at lower weights (pv = 0.023). Conclusions: The study population of pregnant women is exposed to high levels of metals mainly of household origin. Our findings may be generalized to similar populations in developing countries. - Highlights: • Almost a third of the pregnant women had a detectable metal in their urine. • Aluminum and Arsenic were the most prevalent metals in urine. • The study investigates pregnant women exposed to a hazardous

  5. Congenital coronary artery anomalies: a bridge from embryology to anatomy and pathophysiology--a position statement of the development, anatomy, and pathology ESC Working Group

    NARCIS (Netherlands)

    Pérez-Pomares, José María; de la Pompa, José Luis; Franco, Diego; Henderson, Deborah; Ho, Siew Yen; Houyel, Lucile; Kelly, Robert G.; Sedmera, David; Sheppard, Mary; Sperling, Silke; Thiene, Gaetano; van den Hoff, Maurice; Basso, Cristina

    2016-01-01

    Congenital coronary artery anomalies are of major significance in clinical cardiology and cardiac surgery due to their association with myocardial ischaemia and sudden death. Such anomalies are detectable by imaging modalities and, according to various definitions, their prevalence ranges from 0.21

  6. Deviant early pregnancy maternal triglyceride levels and increased risk of congenital anomalies: a prospective community-based cohort study.

    Science.gov (United States)

    Nederlof, M; de Walle, H E K; van Poppel, M N M; Vrijkotte, T G M; Gademan, M G J

    2015-08-01

    The maternal lipid profile could be of importance in congenital anomaly development. This study therefore investigates whether the maternal lipid profile during early pregnancy is associated with major nonsyndromic congenital anomalies (MNCA). Prospective community-based cohort study. Amsterdam Born Children and their Development (ABCD) study. A cohort of 3074 pregnant women recruited in 2003-2004 and their offspring. Non-fasting blood samples from pregnant women participating in the ABCD-study (median 12.9 weeks of gestation) were analysed for triglycerides (TG), cholesterol (TC), free fatty acids (FFA), apolipoprotein B (ApoB), and apolipoprotein A1 (ApoA) (n = 3074). The perinatal outcome (MNCA) was obtained from the Youth Health Care Registration and two questionnaires. Adjustment was made for ethnicity. MNCA prevalence. The prevalence of MNCA was 2.2% (n = 68: 20 cardiovascular, 25 bone and muscle, and 23 other single anomalies). A nonlinear association was found between maternal TG levels and MNCA prevalence. With a lower or higher level of maternal TG, the estimated probability increased: a TG level of 0.73 mmol/l (5th percentile), of 1.28 mmol/l (50th percentile), and of 2.35 mmol/l (95th percentile) corresponded with an estimated probability of 3.6, 2.1, and 2.9%, respectively. Unadjusted subgroup analyses showed that the U-shaped association was most prominent for cardiovascular congenital anomalies. Other lipids were not associated with MNCA. Both low and high maternal TG levels during early pregnancy were associated with an increased risk of MNCA in offspring. This suggests that an attempt should be made to normalise TG levels before or during early pregnancy; however, replication of our results is necessary before clinical practice recommendations can be made. © 2015 Royal College of Obstetricians and Gynaecologists.

  7. Targeted preventive care may be needed for adults with congenital spine anomalies.

    Science.gov (United States)

    Wilson, Richard; Lewis, Steven A; Dicianno, Brad E

    2011-08-01

    To compare hospitalizations caused by spina bifida-sensitive conditions, ambulatory care-sensitive conditions in adults with spina bifida and in the general population, our aim was to provide information about whether preventive health efforts already underway in the hospitalized general population are adequate for preventive care in spina bifida and congenital spine anomalies. Retrospective secondary data analysis. Records of hospitalized individuals who were 18 years of age and older. Comparison between individuals hospitalized with spina bifida and the general population using data from the California State Inpatient Database from the Healthcare Cost and Utilization Project for 2004 of adults. Prevalence of spina bifida-sensitive conditions and ambulatory care-sensitive conditions as reason for hospitalization and 30-day readmission. As compared with the general population, persons with spina bifida who were hospitalized in 2004 had a significantly greater number of hospitalizations, number of hospitalizations associated with both spina bifida-sensitive conditions and ambulatory care-sensitive conditions, and number of 30-day readmissions. Stratification by age shows that the admissions for spina bifida sensitive conditions were greater in persons with spina bifida than in the general population for all age groups. In contrast, only in the youngest age group did those with spina bifida experience greater hospitalizations for ambulatory care-sensitive conditions. This study provides further evidence that persons with spina bifida have hospitalizations that are beyond what the general population experiences. These conditions may be potentially preventable with appropriate ambulatory care. This group also had a greater risk for readmission within 30 days of discharge from their last hospitalization. More research is needed on the efficacy of programs aimed at prevention of these conditions. Copyright © 2011 American Academy of Physical Medicine and Rehabilitation

  8. Anaesthesia in Congenital Facial Anomalies in a Rural Set up of a Developing Country

    Directory of Open Access Journals (Sweden)

    Debasish Saha

    2015-01-01

    Full Text Available Background: India has an estimated backlog of 1000000 cleft patients. A total of 35000 new cleft patients are born each year. With the capacity to operate on approximately 50000 patients each year only 15000 patients from the national backlog can be operated upon each year if capability is not augmented. Objectives: To reach the population at large we meticulously planned an out-reach programme and operated on patients even in rural set ups with lack of modern facilities. We operated on patients at sub divisional centres, where apparatus for providing sevoflurane was not available. Institutional Ethical clearance was taken before conduction of the study. Patients who required prolonged surgery were taken to the tertiary centre. Working ventilators were also not available at peripheral centres. Materials and Methods: This interventional study was carried in a time span of four years on nineteen hundred and nine patients, after taking approval from the Institutional Ethical Committee. Patients were screened and some were operated at rural centers and others at a tertiary care centre. Patients who could not afford to come to the tertiary care centre were operated at different rural centers. Informed consent was taken. Results: There were 1909 patients with Congenital Facial Anomalies (CFA over four years period out of which 918 patients were of either unilateral or bilateral cleft lip. They were successfully operated at rural health centers with limited facilities. This could reduce the total load of surgeries for CFA at tertiary care hospital ensuring safe surgeries for all with CFA for all age groups and both genders.No mortality was recorded and post operative complications consisted of nausea and vomiting, three had delayed recovery and one had laryngospasm. Conclusion: Outreach programmes can increase the efficacy of Smile Train Project and effective screening of patients before surgery can result in fruitful outcomes even in a rural set up

  9. [Drugs use in pregnancy in the Valencia Region and the risk of congenital anomalies].

    Science.gov (United States)

    Cavero-Carbonell, Clara; Gimeno-Martos, Silvia; Páramo-Rodríguez, Lucía; Rabanaque-Hernández, María José; Martos-Jiménez, Carmen; Zurriaga, Óscar

    2017-09-01

    Despite the potential risks of drug use during pregnancy, consumption has increased in recent decades. To identify the risk of congenital anomalies (CA) associated with the use of drugs in primary care in pregnant women residents in the Valencia Region. A case-control study, considering a case as a less than one year old live birth in 2009-2010, diagnosed with a CA and resident in the Valencia Region, obtained from the CA population-based registry. Controls were selected from the Metabolic Disease Registry, and the drugs prescribed and dispensed from the Integral Management of Pharmaceutical Services. Crude odds ratio (OR) was calculated with its 95% confidence intervals and adjusted OR was calculated using logistic regression. A total of 1,913 cases and 3,826 controls were identified. The most frequently used drug groups were those acting on the musculoskeletal, nervous and respiratory systems, on the blood and blood forming organs, and anti-infection drugs. The most common drugs used were ibuprofen, dexketoprofen, paracetamol, amoxicillin, ferrous sulphate, and a combination of folic acid. A significantly increased risk of CA was identified for drugs acting on the musculoskeletal system (adjusted OR 1.14 [95% confidence interval 1.02-1.28]). A significantly decreased risk was observed for drugs acting on the blood and blood forming organs (adjusted OR 0.87 [95% confidence interval 0.78-0.98]). Associations between drugs and CA in pregnant women resident in the Valencia Region have been identified for drugs that act as risk factors of CA, and for drugs that act as protective factors of CA. Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study

    Directory of Open Access Journals (Sweden)

    Garavelli Livia

    2009-02-01

    Full Text Available Abstract Background Waste incineration releases into the environment toxic substances having a teratogenic potential, but little epidemiologic evidence is available on this topic. We aimed at examining the relation between exposure to the emissions from a municipal solid waste incinerator and risk of birth defects in a northern Italy community, using Geographical Information System (GIS data to estimate exposure and a population-based case-control study design. By modelling the incinerator emissions, we defined in the GIS three areas of increasing exposure according to predicted dioxins concentrations. We mapped the 228 births and induced abortions with diagnosis of congenital anomalies observed during the 1998–2006 period, together with a corresponding series of control births matched for year and hospital of birth/abortion as well as maternal age, using maternal address in the first three months of pregnancy to geocode cases and controls. Results Among women residing in the areas with medium and high exposure, prevalence of anomalies in the offspring was substantially comparable to that observed in the control population, nor dose-response relations for any of the major categories of birth defects emerged. Furthermore, odds ratio for congenital anomalies did not decrease during a prolonged shut-down period of the plant. Conclusion Overall, these findings do not lend support to the hypothesis that the environmental contamination occurring around an incineration plant such as that examined in this study may induce major teratogenic effects.

  11. Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

    Science.gov (United States)

    2018-03-21

    Congenital Fibrosis of Extraocular Muscles; Duane Retraction Syndrome; Duane Radial Ray Syndrome; Mobius Syndrome; Brown Syndrome; Marcus Gunn Syndrome; Strabismus Congenital; Horizontal Gaze Palsy; Horizontal Gaze Palsy With Progressive Scoliosis; Facial Palsy; Facial Paresis, Hereditary, Congenital; Third Nerve Palsy; Fourth Nerve Palsy; Sixth Nerve Palsy; Synkinesis; Ocular Motility Disorders; Levator-Medial Rectus Synkinesis; Athabaskan Brainstem Dysgenesis; Tongue Paralysis; Ninth Nerve Disorder; Fifth Nerve Palsy; Seventh Nerve Palsy; Eleventh Nerve Disorder; Twelfth Nerve Disorder; Vagus Nerve Paralysis; Moebius Sequence

  12. Prognosis and Risk Factors for Congenital Airway Anomalies in Children with Congenital Heart Disease: A Nationwide Population-Based Study in Taiwan.

    Directory of Open Access Journals (Sweden)

    Yu-Sheng Lee

    Full Text Available The mortality risk associated with congenital airway anomalies (CAA in children with congenital heart disease (CHD is unclear. This study aimed to investigate the factors associated with CAA, and the associated mortality risk, among children with CHD.This nationwide, population-based study evaluated 39,652 children with CHD aged 0-5 years between 2000 and 2011, using the Taiwan National Health Insurance Research Database (NHIRD. We performed descriptive, logistic regression, Kaplan-Meier, and Cox regression analyses of the data.Among the children with CHD, 1,591 (4.0% had concomitant CAA. Children with CHD had an increased likelihood of CAA if they were boys (odds ratio [OR], 1.48; 95% confidence interval [CI], 1.33-1.64, infants (OR, 5.42; 95%CI, 4.06-7.24, or had a congenital musculoskeletal anomaly (OR, 3.19; 95%CI, 2.67-3.81, and were typically identified 0-3 years after CHD diagnosis (OR, 1.33; 95%CI 1.17-1.51. The mortality risk was increased in children with CHD and CAA (crude hazard ratio [HR], 2.05; 95%CI, 1.77-2.37, even after adjusting for confounders (adjusted HR, 1.76; 95%CI, 1.51-2.04. Mortality risk also changed by age and sex (adjusted HR and 95%CI are quoted: neonates, infants, and toddlers and preschool children, 1.67 (1.40-2.00, 1.93 (1.47-2.55, and 4.77 (1.39-16.44, respectively; and boys and girls, 1.62 (1.32-1.98 and 2.01 (1.61-2.50, respectively.The mortality risk is significantly increased among children with CHD and comorbid CAA. Clinicians should actively seek CAA during the follow-up of children with CHD.

  13. Antenatal counselling for congenital anomaly tests: an exploratory video-observational study about client-midwife communication.

    Science.gov (United States)

    Martin, Linda; Hutton, Eileen K; Gitsels-van der Wal, Janneke T; Spelten, Evelien R; Kuiper, Fleur; Pereboom, Monique T R; van Dulmen, Sandra

    2015-01-01

    antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client-midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions. However, little is known about how these functions are fulfilled in daily practice. This study aims to describe the relative expression of the antenatal counselling functions; to describe the ratio of client versus midwife conversational contribution and to get insight into clients' characteristics, which are associated with midwives' expressions of the functions of antenatal counselling. exploratory video-observational study. 269 videotaped antenatal counselling sessions for congenital anomaly tests provided by 20 midwives within six Dutch practices. we used an adapted version of the Roter Interaction Analysis System to code the client-midwife communication. Multilevel linear regression analyses were used to analyse associations between clients' characteristics and midwives' expressions of antenatal counselling in practice. most utterances made during counselling were coded as HE (41%); a quarter as DMS (23%) and 36% as CMR. Midwives contributed the most to the HE compared to clients or their partners (91% versus 9%) and less to the DMS function of counselling (61% versus 39%). Multilevel analyses showed an independent association between parity and shorter duration of antenatal counselling; (β=-3.01; pcounselling of multipara was less compared to nulliparous. antenatal counselling for congenital anomaly tests by midwives is focused on giving HE compared to DMS. The relatively low contribution of clients during DMS might indicate poor DMS given by midwives. Counselling of multipara was significantly shorter than counselling of nulliparous; multiparae received less HE as well as DMS compared to nulliparous women. our findings should encourage midwives to reflect on the process of

  14. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Debangshu Ghosh

    2015-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

  15. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    DEFF Research Database (Denmark)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

    2012-01-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...... currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.246....

  16. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

    Directory of Open Access Journals (Sweden)

    Nadia Skauli

    2016-11-01

    Full Text Available Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3, characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

  17. Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?

    NARCIS (Netherlands)

    Hennekam, R. C.; Goldschmeding, R.

    1998-01-01

    We describe a newborn with complete absence of ossification of the ribs, extreme micrognathia, absence of external ear canals and the inner ears, and diminished mobility in the upper extremities. It is suggested that this represents an unusually severe expression of the cerebro-costo-mandibular

  18. Human syndromes with congenital patellar anomalies and the underlying gene defects.

    NARCIS (Netherlands)

    Bongers, E.M.H.F.; Kampen, A. van; Bokhoven, J.H.L.M. van; Knoers, N.V.A.M.

    2005-01-01

    Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso-ventral patterning, cartilage and

  19. Congenital Complete Tracheal Ring in a Neonate: A Case Report

    Directory of Open Access Journals (Sweden)

    Esra ARUN ÖZER

    2017-09-01

    Full Text Available Abnormalities of the upper airway tract lead to congenital high airway obstruction and may complicate neonatal airway management in the delivery room. Congenital complete tracheal rings are a rare and unusual tracheal anomaly, usually presenting in the neonate or infant as respiratory distress. The clinical presentation can vary from almost asymptomatic patients to near-fatal airway obstruction. It may exist as an isolated entity, or in association with other congenital malformations, in particular, cardiac anomalies along with vascular rings and pulmonary slings. Other associated anomalies have also been reported, for example, chromosomal anomalies, malformation of other parts of the respiratory tract, esophagus and skeletal systems. Here, we report an extreme case of VACTERL/TACRD association presented with congenital complete tracheal ring, encephalocele, bilateral radial agenesis with absent thumbs, equinovalgus deformity on right foot, low-set ears and micrognathia.

  20. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

    Science.gov (United States)

    Kletke, S; Batmanabane, V; Dai, T; Vincent, A; Li, S; Gordon, K A; Papsin, B C; Cushing, S L; Héon, E

    2017-07-01

    The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having USH. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was performed to determine the ocular phenotype. All the cases had undergone ocular examination and electroretinogram (ERG). Patients with an abnormal ERG underwent genetic testing for USH. We found an underlying ocular abnormality in 81.81% (27/33) of cases; of which 75% had refractive errors, and 50% of those patients showed visual improvement with refractive correction. A total of 14 cases (42.42%; 14/33) had generalized rod-cone dysfunction on ERG suggestive of Usher syndrome type 1, confirmed by mutational analysis. This work shows that adding vestibular impairment as a criterion for requesting an eye exam and adding the ERG to detect USH increases the chances of detecting ocular anomalies, when compared with previous literature focusing only on congenital SNHL. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Long-term outcomes of a transmastoid lateral semicircular canal approach to congenital CSF otorrhea in children associated with recurrent meningitis and severe inner ear malformation.

    Science.gov (United States)

    Wang, Jie; Li, Yongxin; Chen, Shubin; Hao, Xinping

    2016-08-01

    To investigate the long-term effectiveness of transmastoid lateral semicircular canal approach (TMLSCCA) to repair cerebrospinal fluid (CSF) leakage in children associated with recurrent meningitis and severe congenital inner malformation. A retrospective study was conducted in a university hospital, academic medical center. Fifteen children with recurrent meningitis, secondary to severe congenital inner ear malformation, were included in the study. All of them had CSF associated otorrhea and treated using TLSCCA to repair CSF otorrhea by packing the vestibule with muscle and fascia. Observation of the status of postoperative CSF leakage, recurrence of meningitis and complication were conducted. None of the cases had recurrent meningitis and CSF leakage after their TLSCCA procedure in the follow-up period of 1-8.5 years. One case presented with transient facial nerve paralysis and completely recovered 3 months later. TLSCCA for CSF otorrhea in children with recurrent meningitis secondary to congenital inner ear malformation is an alternative approach that offers some advantages. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  2. Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

    Directory of Open Access Journals (Sweden)

    Hoogeboom A Jeannette M

    2010-07-01

    Full Text Available Abstract Background Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. Results We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18 chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. Conclusions We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11.

  3. Uranium and other contaminants in hair from the parents of children with congenital anomalies in Fallujah, Iraq

    Directory of Open Access Journals (Sweden)

    Hamdan Malak

    2011-09-01

    Full Text Available Abstract Background Recent reports have drawn attention to increases in congenital birth anomalies and cancer in Fallujah Iraq blamed on teratogenic, genetic and genomic stress thought to result from depleted Uranium contamination following the battles in the town in 2004. Contamination of the parents of the children and of the environment by Uranium and other elements was investigated using Inductively Coupled Plasma Mass Spectrometry. Hair samples from 25 fathers and mothers of children diagnosed with congenital anomalies were analysed for Uranium and 51 other elements. Mean ages of the parents was: fathers 29.6 (SD 6.2; mothers: 27.3 (SD 6.8. For a sub-group of 6 women, long locks of hair were analysed for Uranium along the length of the hair to obtain information about historic exposures. Samples of soil and water were also analysed and Uranium isotope ratios determined. Results Levels of Ca, Mg, Co, Fe, Mn, V, Zn, Sr, Al, Ba, Bi, Ga, Pb, Hg, Pd and U (for mothers only were significantly higher than published mean levels in an uncontaminated population in Sweden. In high excess were Ca, Mg, Sr, Al, Bi and Hg. Of these only Hg can be considered as a possible cause of congenital anomaly. Mean levels for Uranium were 0.16 ppm (SD: 0.11 range 0.02 to 0.4, higher in mothers (0.18 ppm SD 0.09 than fathers (0.11 ppm; SD 0.13. The highly unusual non-normal Fallujah distribution mean was significantly higher than literature results for a control population Southern Israel (0.062 ppm and a non-parametric test (Mann Whitney-Wilcoxon gave p = 0.016 for this comparison of the distribution. Mean levels in Fallujah were also much higher than the mean of measurements reported from Japan, Brazil, Sweden and Slovenia (0.04 ppm SD 0.02. Soil samples show low concentrations with a mean of 0.76 ppm (SD 0.42 and range 0.1-1.5 ppm; (N = 18. However it may be consistent with levels in drinking water (2.28 μgL-1 which had similar levels to water from wells (2.72

  4. Gastric serosal tear due to congenital pyloric atresia: A rare anomaly ...

    African Journals Online (AJOL)

    Congenital pyloric atresia (CPA) is a very rare malformation with unknown aetiology. It has has numerous complications including gastric perforation, aspiration pneumonia. Gastric perforations in newborns occur by three mechanisms: trauma, ischaemia, or spontaneous. Here, we report a newborn with CPA presenting with ...

  5. Exploring risk perception and attitudes to miscarriage and congenital anomaly in rural Western Kenya

    NARCIS (Netherlands)

    Dellicour, Stephanie; Desai, Meghna; Mason, Linda; Odidi, Beatrice; Aol, George; Phillips-Howard, Penelope A.; Laserson, Kayla F.; ter Kuile, Feiko O.

    2013-01-01

    Understanding the socio-cultural context and perceptions of adverse pregnancy outcomes is important for informing the best approaches for public health programs. This article describes the perceptions, beliefs and health-seeking behaviours of women from rural western Kenya regarding congenital

  6. Anesthetic dilemma in planning bilateral cataract surgery for an infant associated with congenital cardiac anomaly

    Directory of Open Access Journals (Sweden)

    Devalina Goswami

    2015-01-01

    Full Text Available In a patient with tetralogy of Fallot (TOF and pulmonary atresia, treating the cardiac problem or the associated congenital illness is always a challenge. We describe the challenges and successful initial management of bilateral cataract to prevent visual loss in an infant with TOF with pulmonary atresia.

  7. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies

    DEFF Research Database (Denmark)

    Wemakor, Anthony; Casson, Karen; Garne, Ester

    2015-01-01

    Evidence of an association between early pregnancy exposure to selective serotonin reuptake inhibitors (SSRI) and congenital heart defects (CHD) has contributed to recommendations to weigh benefits and risks carefully. The objective of this study was to determine the specificity of association be...

  8. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias

    NARCIS (Netherlands)

    Oostra, R. J.; Baljet, B.; Dijkstra, P. F.; Hennekam, R. C.

    1998-01-01

    The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than five thousand specimens of human and animal anatomy, embryology, pathology, and congenital

  9. The importance of social media for patients and families affected by congenital anomalies: A Facebook cross-sectional analysis and user survey.

    Science.gov (United States)

    Jacobs, Robyn; Boyd, Leanne; Brennan, Kirsty; Sinha, C K; Giuliani, Stefano

    2016-11-01

    We aimed to define characteristics and needs of Facebook users in relation to congenital anomalies. Cross-sectional analysis of Facebook related to four congenital anomalies: anorectal malformation (ARM), congenital diaphragmatic hernia (CDH), congenital heart disease (CHD) and hypospadias/epispadias (HS/ES). A keyword search was performed to identify relevant Groups/Pages. An anonymous survey was posted to obtain quantitative/qualitative data on users and their healthcare needs. 54 Groups and 24 Pages were identified (ARM: 10 Groups; CDH: 9 Groups, 7 Pages; CHD: 32 Groups, 17 Pages; HS/ES: 3 Groups), with 16,191 Group members and 48,766 Page likes. 868/1103 (79%) of respondents were parents. Male:female ratio was 1:10.9. 65% of the users were 26-40years old. Common reasons for joining these Groups/Pages included: seeking support, education, making friends, and providing support to others. 932/1103 (84%) would like healthcare professionals (HCPs) to actively participate in their Group. 31% of the respondents felt that they did not receive enough support from their healthcare system. 97% of the respondents would like to join a Group linked to their primary hospital. Facebook Groups/Pages related to congenital anomalies are highly populated and active. There is a need for HCPs and policy makers to better understand and participate in social media to support families and improve patient care. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Radiological imaging of congenital hand anomalies - a 6-year single-centre experience and what the hand surgeons want to know

    Energy Technology Data Exchange (ETDEWEB)

    Gerety, E.L.; Hopper, M.A. [Cambridge University Hospitals NHS Foundation Trust, Department of Radiology, Cambridge (United Kingdom); Grant, I. [Cambridge University Hospitals NHS Foundation Trust, Department of Plastic Surgery, Cambridge (United Kingdom)

    2014-12-19

    Congenital hand anomalies present a rare but important physical and emotional challenge for children and parents. Radiological imaging is important for accurate diagnosis, to aid decision making and to monitor changes in the growing hand. The goal of any treatment is to help the child achieve his/her maximum potential, to provide a useful hand with attention to cosmesis. We investigated the range of congenital hand anomalies imaged in a tertiary referral centre. We examined the timing of imaging and the key clinical questions. The radiology imaging system was searched retrospectively for radiographs of congenital hand anomalies over a 6-year period. The images were reviewed and patient demographics, diagnosis and other imaging recorded. Over 6 years, 85 patients had imaging. Twenty-three patients had bilateral problems and 11 had recognised syndromes. The most common abnormalities imaged were duplicated thumbs (28 %), followed by syndactyly (18 %). Children were first imaged as early as 1 day old, with the median age of initial imaging 12 months. Thumb duplication and syndactyly are the most common conditions for which radiographs are requested at our hospital, although overall syndactyly is considered the most common congenital hand anomaly. For a variety of reasons, children are often imaged very early, before review by the Specialist in Children's Hand Surgery (despite surgery being unlikely before 1 year of age.) We discuss the classification systems and specific issues that hand surgeons want to know from the radiologists. (orig.)

  11. Revisiting Sports Precautions in Children With Solitary Kidneys and Congenital Anomalies of the Kidney and Urinary Tract.

    Science.gov (United States)

    Papagiannopoulos, Dimitri; Gong, Edward

    2017-03-01

    This review article explores sports and recreational precautions in children with solitary kidneys. In 2001, the American Academy of Pediatrics published recommendations for activity in children with medical conditions. Those with solitary kidneys were graded a "qualified yes": no restriction in noncontact sports, and individual assessment for limited-contact, contact, and collision sports. Recent trauma data suggest that classification according to the degree of contact is inaccurate. We propose an updated, data-driven classification of sports or recreation according to the risk of high-grade renal trauma or loss of renal unit. Given the paucity of literature on the topic and lack of consensus, children with congenital renal anomalies should exercise caution in both sports and recreation. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Chorda tympani nerve dysfunction associated with congenital microtia.

    Science.gov (United States)

    Takano, Kenichi; Takahashi, Nozomi; Ogasawara, Noriko; Yotsuyanagi, Takatoshi; Himi, Tetsuo

    2017-07-01

    This is the first report to investigate the correlation between ear anomalies related to the development of specific ear structures and chorda tympani dysfunction (CTD) in congenital microtia. CTD is not always consistent with the severity of the ear anomaly or the presence of facial nerve paralysis (FNP). To investigate the relationship between the severity of ear anomalies and CTD as well as FNP in congenital microtia. A retrospective assessment was performed for all patients with microtia over the period 2010-2016. All ears were graded based on the severity of ear deformity using the Jahrsdoerfer system, based on findings on computed tomography of the temporal bone. Electrogustometry (EGM) was performed to evaluate CTD. The group included 110 male and 62 female patients. The right ear was the most commonly affected (right 106, left 47). Eighteen patients (10.5%) had abnormal EGM thresholds. The mean (± SD) Jahrsdoerfer scores in the without CTD and positive for CTD groups were 6.53 ± 0.32 and 7.06 ± 0.37, respectively. In terms of sub-total points, there was no significant correlation between anatomic structure and CTD. There was no significant correlation between CTD and the presence of FNP.

  13. The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance: a descriptive study.

    Science.gov (United States)

    Meijer, Willemijn M; Cornel, Martina C; Dolk, Helen; de Walle, Hermien E K; Armstrong, Nicola C; de Jong-van den Berg, Lolkje T W

    2006-09-01

    European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe surveying more than 1 million births per year, or 25% of the births in the European Union. This paper describes the potential of the EUROCAT collaboration for pharmacoepidemiology and drug safety surveillance. The 34 full members and 6 associate members of the EUROCAT network were sent a questionnaire about their data sources on drug exposure and on drug coding. Available data on drug exposure during the first trimester available in the central EUROCAT database for the years 1996-2000 was summarised for 15 out of 25 responding full members. Of the 40 registries, 29 returned questionnaires (25 full and 4 associate members). Four of these registries do not collect data on maternal drug use. Of the full members, 15 registries use the EUROCAT drug code, 4 use the international ATC drug code, 3 registries use another coding system and 7 use a combination of these coding systems. Obstetric records are the most frequently used sources of drug information for the registries, followed by interviews with the mother. Only one registry uses pharmacy data. Percentages of cases with drug exposure (excluding vitamins/minerals) varied from 4.4% to 26.0% among different registries. The categories of drugs recorded varied widely between registries. Practices vary widely between registries regarding recording drug exposure information. EUROCAT has the potential to be an effective collaborative framework to contribute to post-marketing drug surveillance in relation to teratogenic effects, but work is needed to implement ATC drug coding more widely, and to diversify the sources of information used to determine drug exposure in each registry.

  14. Fibrous incudostapedial joint in congenital aural atresia.

    Science.gov (United States)

    Balaker, Ashley E; Roberson, Joseph B; Goldsztein, Hernan

    2014-04-01

    (1) Determine the prevalence of a non-bony or fibrous incudostapedial (IS) joint in the setting of congenital aural atresia. (2) Assess this anomaly's impact on surgical management and associated hearing outcomes. Retrospective chart review. Subspecialty private practice. Operative reports and audiometric data of patients who underwent congenital aural atresia repair by a single surgeon from 2007 to 2011 were reviewed for operative anatomic findings and audiometric outcomes. Two hundred twenty-eight operations on 206 ears were performed. Median age was 5 years old. Fifty-five (26.7%) of these ears had a fibrous IS joint. The severity of this anomaly was graded as mild in 23 ears, moderate in 20 ears, and severe in 12 ears. Mean postoperative pure tone air conduction (PTA2) in the severely fibrous group was 51 compared to 46 in the moderate group (P = .03) and 41 in the mild group (P = .006). Patients with a fibrous IS joint who underwent successful ossicular chain reconstruction (OCR) had a mean postoperative PTA2 of 30, which was a significantly better outcome than in patients with moderately or severely fibrous IS joints who did not have OCR (P atresia. The severity of this anomaly has important implications for postoperative hearing results. These findings suggest that ossicular chain reconstruction should be performed in moderately or severely fibrous cases.

  15. Anaesthetic management of a child with "cor-triatriatum" and multiple ventricular septal defects - A rare congenital anomaly

    Directory of Open Access Journals (Sweden)

    Sriram Sabade

    2010-01-01

    Full Text Available Cor-triatriatum is a rare congenital cardiac anomaly. It accounts for 0.1% of congenital heart diseases. Its association with multiple ventricular septal defects (VSD is even rarer. A five-month-old baby was admitted with respiratory distress and failure to thrive. Clinical examination revealed diastolic murmur over mitral area. Chest X-ray showed cardiomegaly. Haematological and biochemical investigations were within normal limits. Electrocardiogram showed left atrial enlargement. 2D echo showed double-chambered left atrium (cor-triatriatum, atrial septal defect (ASD and muscular VSD with moderate pulmonary arterial hypertension. The child was treated with 100% oxygen, diuretics and digoxin and was stabilized medically. We used balanced anaesthetic technique using oxygen, air, isoflurane, fentanyl, midazolam and vecuronium. Patient was operated under cardiopulmonary bypass (CPB with moderate hypothermia. Through right atriotomy abnormal membrane in the left atrium was excised to make one chamber. VSD were closed with Dacron patches and ASD was closed with autologous pericardial patch. Patient tolerated the whole procedure well and was ventilated electively for 12h in the intensive care unit. He was discharged on the 10 th postoperative day.

  16. Tomographic and clinical aspects of the central nervous system anomalies associated to the craniofacial congenital changes; Aspectos tomograficos e clinicos das anomalias estruturais do sistema nervoso central associadas as alteracoes congenitas do macico facial

    Energy Technology Data Exchange (ETDEWEB)

    Bellucci, Angela Delete

    1994-12-31

    This work proposes to study people presenting craniofacial congenital anomalies, with or without mental disorders, regardless their association to other anomalies in the body middle line, aiming to verify the central nervous system frequency of concurrence with structural anomalies associated, within the clinic and phenotype spectra of that syndromes. (author). 182 refs., 36 figs.

  17. Diagnostic value and clinical problems of MR imaging in congenital anomalies of the central nervous system, 2. Spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Oi, Shizuo; Urui, Seishiro; Asano, Noboru; Masumura, Michio; Shose, Yoshiteru; Matsumoto, Satoshi

    1987-06-01

    Spina bifida and associated congenital anomalies in the central nervous system were evaluated by means of MRI, and the results compared with those obtained by conventional diagnostic procedures. Using the two-dimensional Fourier transform technique, a three-radiofrequency-pulse sequence (inversion recovery: IR 2100/500; spin-echo: SE 2100/40 or 2100/80) was routinely applied. Compared with X-ray CT, MR proved to be more accurate in the detection of the pathoanatomical relation between the lesion and the spinal cord, or that between the spinal dysraphic state and associated intracranial anomalies. MRI was also superior in the anatomical diagnosis of a spinal lipoma, a tethered cord, syringobulbia, syringomyelia, the Chiari anomaly, and so forth. The most considerable disadvantage of MRI in the diagnosis of the spina bifida is the poor information it provides about the bifid spine itself, but this information may be obtained by the use of conventional diagnostic procedures. Also, a regular-conducting MRI system is still insufficient to demonstrate the precise location of the canda equina nerve roots, especially in relation to a lipoma, although the spin-echo MR myelographic technique was helpful in demarcating the major structures, such as the lipoma and the cord. In syringomyelia and syringobulbia, further invasive study in analyzing the fluid dynamics is needed to determine the proper operative procedure. It was emphasized in this study that MRI is an extremely valuable diagnostic tool also in the diagnosis of spinal dysraphism, especially in the detection of a pathoanatomical structure, but can also be expected to be improved so as to make possible finer anatomical analysis and provide a higher quality of information on the fluid dynamics, at least so as to indicate operative procedures without any invasive methods. (J.P.N.).

  18. Selective Serotonin Reuptake Inhibitor (SSRI) Antidepressants in Pregnancy and Congenital Anomalies

    DEFF Research Database (Denmark)

    Jordan, Sue; Morris, Joan K.; Davies, Gareth I.

    2016-01-01

    of LMP, separately and together, odds ratios with 95% confidence intervals (ORs, 95%CI) for all major anomalies were estimated. We also explored: pausing or discontinuing SSRIs preconception, confounding, high dose regimens, and, in Wales, diagnosis of depression. Results were combined in meta....../12962, 3.65% vs. 15829/506,155, 3.13%, OR 1.13, 1.03–1.24). The increased prevalence of all major anomalies combined did not reach statistical significance (3.09% [400/12,962] vs. 2.67% [13,536/506,155] OR 1.09, 0.99–1.21). Adjusting for socio-economic status left ORs largely unchanged. The prevalence...

  19. Diagnosis of ossicular deformities and inner ear anomalies by high resolution CT scanning of the temporal bone

    Energy Technology Data Exchange (ETDEWEB)

    Isono, Michio

    1988-04-01

    A comparative study was undertaken to determine the optimum slice thickness and slice gaps that can define the fine contour and continuity of the ossicles and the inner ear. Horizontal tomography was proved to be contributory enough to obtain the whole ossicular chains and the whole labyrinthine capsule. Comparison of 1.5 mm slice thickness / 1.5 mm slice gaps, 1.0 mm slice thickness / 1.0 mm slice gaps and 1.5 mm slice thickness / 1.0 mm slice gaps revealed that the last condition was optimal for demonstrating the ossicular chains, the first for the inner ear. A significant relationship was found between CT findings and surgical findings of ossicular chains in chronic otitis media and cholesteatoma. Radiological classification of the inner ear malformation, which was obtained by this method, were agenesis of the whole labyrinthine capsule, agenesis of the cochlea, slight protrusion of the cochlear growth, poor cochlear turning, agenesis of all the semicircular canals, anterior semicircular canals (s.c.) without posterior and lateral s.c., anterior s.c. without hypoplasia of posterior s.c. and aplasia of lateral s.c., and smallness of the vestibule. (author) 59 refs.

  20. Diagnosis of ossicular deformities and inner ear anomalies by high resolution CT scanning of the temporal bone

    International Nuclear Information System (INIS)

    Isono, Michio

    1988-01-01

    A comparative study was undertaken to determine the optimum slice thickness and slice gaps that can define the fine contour and continuity of the ossicles and the inner ear. Horizontal tomography was proved to be contributory enough to obtain the whole ossicular chains and the whole labyrinthine capsule. Comparison of 1.5 mm slice thickness / 1.5 mm slice gaps, 1.0 mm slice thickness / 1.0 mm slice gaps and 1.5 mm slice thickness / 1.0 mm slice gaps revealed that the last condition was optimal for demonstrating the ossicular chains, the first for the inner ear. A significant relationship was found between CT findings and surgical findings of ossicular chains in chronic otitis media and cholesteatoma. Radiological classification of the inner ear malformation, which was obtained by this method, were agenesis of the whole labyrinthine capsule, agenesis of the cochlea, slight protrusion of the cochlear growth, poor cochlear turning, agenesis of all the semicircular canals, anterior semicircular canals (s.c.) without posterior and lateral s.c., anterior s.c. without hypoplasia of posterior s.c. and aplasia of lateral s.c., and smallness of the vestibule. (author) 59 refs

  1. Selective Serotonin Reuptake Inhibitor (SSRI) Antidepressants in Pregnancy and Congenital Anomalies: Analysis of Linked Databases in Wales, Norway and Funen, Denmark.

    Science.gov (United States)

    Jordan, Sue; Morris, Joan K; Davies, Gareth I; Tucker, David; Thayer, Daniel S; Luteijn, Johannes M; Morgan, Margery; Garne, Ester; Hansen, Anne V; Klungsøyr, Kari; Engeland, Anders; Boyle, Breidge; Dolk, Helen

    2016-01-01

    Hypothesised associations between in utero exposure to selective serotonin reuptake inhibitors (SSRIs) and congenital anomalies, particularly congenital heart defects (CHD), remain controversial. We investigated the putative teratogenicity of SSRI prescription in the 91 days either side of first day of last menstrual period (LMP). Three population-based EUROCAT congenital anomaly registries- Norway (2004-2010), Wales (2000-2010) and Funen, Denmark (2000-2010)-were linked to the electronic healthcare databases holding prospectively collected prescription information for all pregnancies in the timeframes available. We included 519,117 deliveries, including foetuses terminated for congenital anomalies, with data covering pregnancy and the preceding quarter, including 462,641 with data covering pregnancy and one year either side. For SSRI exposures 91 days either side of LMP, separately and together, odds ratios with 95% confidence intervals (ORs, 95%CI) for all major anomalies were estimated. We also explored: pausing or discontinuing SSRIs preconception, confounding, high dose regimens, and, in Wales, diagnosis of depression. Results were combined in meta-analyses. SSRI prescription 91 days either side of LMP was associated with increased prevalence of severe congenital heart defects (CHD) (as defined by EUROCAT guide 1.3, 2005) (34/12,962 [0.26%] vs. 865/506,155 [0.17%] OR 1.50, 1.06-2.11), and the composite adverse outcome of 'anomaly or stillbirth' (473/12962, 3.65% vs. 15829/506,155, 3.13%, OR 1.13, 1.03-1.24). The increased prevalence of all major anomalies combined did not reach statistical significance (3.09% [400/12,962] vs. 2.67% [13,536/506,155] OR 1.09, 0.99-1.21). Adjusting for socio-economic status left ORs largely unchanged. The prevalence of anomalies and severe CHD was reduced when SSRI prescriptions were stopped or paused preconception, and increased when >1 prescription was recorded, but differences were not statistically significant. The dose

  2. Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction

    International Nuclear Information System (INIS)

    Severino, Mariasavina; Tortora, Domenico; Rossi, Andrea; Pistorio, Angela; Ramenghi, Luca Antonio; Napoli, Flavia; Mancardi, Maria Margherita; Striano, Pasquale; Capra, Valeria

    2016-01-01

    We aimed to describe the clinico-radiological findings of patients with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning. We reviewed the DMJ anatomy of 445 patients with brain malformations. Associated supra/infratentorial abnormalities and clinical findings were noted. Craniocaudal and anteroposterior diameters of midbrain, pons, medulla, vermis, and transverse cerebellar diameter were compared with age-matched controls. Post hoc tests were corrected according to Bonferroni (p B ). Two patterns of DMJ anomaly were identified in 12 patients (7 females, mean age 41 months). Type A was characterized by hypothalamic-mesencephalic fusion on axial plane, with possible midbrain ventral cleft (7 patients). Anteroposterior (p B =.006) and craniocaudal (p B =.027) diameters of the pons, craniocaudal diameter of the vermis (p B =.015), and transverse cerebellar diameter (p B =.011) were smaller than the controls. Corticospinal tract, basal ganglia, and commissural anomalies were also associated. Clinical findings included spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy, and severe developmental delay. Type B was characterized by incomplete thalamic-mesencephalic cleavage on sagittal plane, with parenchymal bands connecting the interthalamic adhesion with the midbrain (five patients). Anteroposterior diameters of midbrain (p B =.002), pons (p B =.0004), and medulla (p B =.002) as well as the vermian anteroposterior (p B =.040) and craniocaudal diameters (p B =.014) were smaller than the controls. These patients were less neurologically impaired, most presenting mild developmental delay. The spectrum of DMJ patterning defects is wide and may be associated with several brain malformations. Infratentorial brain structures should be carefully evaluated to better define the type of associated midbrain-hindbrain anomalies. (orig.)

  3. Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina; Tortora, Domenico; Rossi, Andrea [Istituto Giannina Gaslini, Neuroradiology Unit, Genova (Italy); Pistorio, Angela [Istituto Giannina Gaslini, Epidemiology and Biostatistics Unit, Genoa (Italy); Ramenghi, Luca Antonio [Istituto Giannina Gaslini, Neonatal Intensive Care Unit, Genoa (Italy); Napoli, Flavia [Istituto Giannina Gaslini, Endocrinology Unit, Genoa (Italy); Mancardi, Maria Margherita [Istituto Giannina Gaslini, Neuropsychiatry Unit, Genoa (Italy); Striano, Pasquale [Istituto Giannina Gaslini, Paediatric Neurology and Muscular Diseases Unit, Genoa (Italy); Capra, Valeria [Istituto Giannina Gaslini, Genetic Unit, Genoa (Italy)

    2016-01-15

    We aimed to describe the clinico-radiological findings of patients with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning. We reviewed the DMJ anatomy of 445 patients with brain malformations. Associated supra/infratentorial abnormalities and clinical findings were noted. Craniocaudal and anteroposterior diameters of midbrain, pons, medulla, vermis, and transverse cerebellar diameter were compared with age-matched controls. Post hoc tests were corrected according to Bonferroni (p{sub B}). Two patterns of DMJ anomaly were identified in 12 patients (7 females, mean age 41 months). Type A was characterized by hypothalamic-mesencephalic fusion on axial plane, with possible midbrain ventral cleft (7 patients). Anteroposterior (p{sub B} =.006) and craniocaudal (p{sub B} =.027) diameters of the pons, craniocaudal diameter of the vermis (p{sub B} =.015), and transverse cerebellar diameter (p{sub B} =.011) were smaller than the controls. Corticospinal tract, basal ganglia, and commissural anomalies were also associated. Clinical findings included spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy, and severe developmental delay. Type B was characterized by incomplete thalamic-mesencephalic cleavage on sagittal plane, with parenchymal bands connecting the interthalamic adhesion with the midbrain (five patients). Anteroposterior diameters of midbrain (p{sub B} =.002), pons (p{sub B} =.0004), and medulla (p{sub B} =.002) as well as the vermian anteroposterior (p{sub B} =.040) and craniocaudal diameters (p{sub B} =.014) were smaller than the controls. These patients were less neurologically impaired, most presenting mild developmental delay. The spectrum of DMJ patterning defects is wide and may be associated with several brain malformations. Infratentorial brain structures should be carefully evaluated to better define the type of associated midbrain-hindbrain anomalies. (orig.)

  4. Radiocolloid scintigraphy as an aid to the diagnosis of congenital portacaval anomalies in the dog

    International Nuclear Information System (INIS)

    Hornof, W.J.; Koblik, P.D.; Breznock, E.M.

    1983-01-01

    Five clinically normal dogs and 5 dogs in which portacaval anomalies were diagnosed angiographically were utilized to evaluate differences in the appearance of the radiocolloid liver scan between the 2 groups. The liver was clearly visualized in all dogs, allowing subjective evaluation of size. In the dogs with portacaval shunts, scintigraphy revealed an obviously small liver as well as pulmonary uptake of radiocolloid. The utility of this technique was then tested in a group of dogs with liver disease and was shown to be of value in differentiating dogs with primary portacaval shunts from other types of liver disease

  5. The two domain hypothesis of limb prepattern and its relevance to congenital limb anomalies.

    Science.gov (United States)

    Tao, Hirotaka; Kawakami, Yasuhiko; Hui, Chi-Chung; Hopyan, Sevan

    2017-07-01

    Functional annotation of mutations that cause human limb anomalies is enabled by basic developmental studies. In this study, we focus on the prepatterning stage of limb development and discuss a recent model that proposes anterior and posterior domains of the early limb bud generate two halves of the future skeleton. By comparing phenotypes in humans with those in model organisms, we evaluate whether this prepatterning concept helps to annotate human disease alleles. WIREs Dev Biol 2017, 6:e270. doi: 10.1002/wdev.270 For further resources related to this article, please visit the WIREs website. © 2017 Wiley Periodicals, Inc.

  6. Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies

    DEFF Research Database (Denmark)

    Loane, Maria; Dolk, Helen; Garne, Ester

    2011-01-01

    for fetal anomaly. EUROCAT's policy is to strive for high-quality data, while ensuring consistency and transparency across all member registries. A set of 30 data quality indicators (DQIs) was developed to assess five key elements of data quality: completeness of case ascertainment, accuracy of diagnosis...... for 2004-2008. This information is also available on the EUROCAT website for previous years. The EUROCAT DQIs allow registries to evaluate their performance in relation to other registries and allows appropriate interpretations to be made of the data collected. The DQIs provide direction for improving data...

  7. MDCT angiography of the major congenital anomalies of the extracranial arteries: pictorial review

    International Nuclear Information System (INIS)

    Saade, Charbel; Bourne, Roger; Brennan, Patrick C.; Wilkinson, Mark

    2013-01-01

    Multidetector computed tomographic angiography is becoming the modality of choice for evaluation of the supra-aortic circulation in acute stroke imaging. Variations of the supra-aortic circulation, in particular of the extracranial arteries, are common. This article aims to provide a pictorial description of the variant anatomy of the aortic arch and extracranial arteries. Knowledge of the presence and clinical relevance of normal variants such as anomalies, duplications and embryological persistence plays a clinically relevant role in the diagnosis and management of neurological and surgical conditions, particularly as we enter an era of increasing extracranial intervention.

  8. Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A review of long-term outcomes.

    Science.gov (United States)

    Stone, Peter; Martis, Walston; Crawford, Haemish

    2017-07-20

    To describe the long-term outcomes of children at school age who were thought to have isolated idiopathic congenital talipes equino varus (ICTEV) at birth. A retrospective review of all children attending a regional talipes clinic who had achieved school age. One hundred sixty-three children were followed up. ICTEV was more common in Maori and other Polynesian children and in males. Additional abnormalities were apparent in 30.1% overall, but higher in New Zealand Europeans (43%) than Maori (21%) or other Polynesians (22%). Of the abnormalities, 41% were associated with the central nervous system or with neurodevelopmental delay. Conventional G-band karyotyping, where performed, was not informative. The rate of additional abnormalities was higher than previous reports. This has implications for prenatal counseling and postnatal follow-up as a prenatal diagnosis of ICTEV may subsequently be found to have longer term implications in addition to orthopedic treatments of the clubfeet.

  9. The use of stereolithographic hand held models for evaluation of congenital anomalies of the great arteries.

    Science.gov (United States)

    Vranicar, Mark; Gregory, William; Douglas, William I; Di Sessa, Peter; Di Sessa, Thomas G

    2008-01-01

    Imaging anomalies of the great vessels has traditionally been accomplished using conventional biplane modalities as well as three-dimensional (3D) video displays. Our aim was to review the use of stereolithography to create 3D models to assess coarctation of the aorta and vascular rings. Twelve patients had high-resolution CT scans to evaluate anomalies of the great arteries (coarctation: 9, vascular ring: 3). Ages were 19 days to 29 years and weights were 3.3 to 139 kg. Digital dicom data from each scan were converted by a commercially available software package into a 3D digital image. The area of interest was selected and the image was exported to a 3D stereolithographic printer to create a 3D model. The models were then evaluated and the results compared to catheterization and surgical findings. All models accurately displayed the pathology investigated. All 3 of the vascular ring models correlated with surgical findings (double arch: 2, pulmonary sling: 1). Models of aortic coarctation allowed clear depictions of discrete narrowing as well as arch hypoplasia and tortuosity. Stereolithography can create realistic 3D models that accurately display aortic pathology and add important additional information, which may have implications regarding surgical and transcatheter interventions and may also be useful teaching tools for parents and students.

  10. Congenital pyloric atresia: Early and delayed presentations-A single centre experience of a rare anomaly.

    Science.gov (United States)

    Kajal, Pradeep; Rattan, Kamal Nain; Bhutani, Namita; Yadav, Poonam

    2016-05-01

    Pyloric atresia may occur as an isolated or pure atresia or may be associated with other anomalies like those involving skin, renal or gastrointestinal systems etc. The most frequent association is with junctional epidermolysis bullosa, a rare autosomal recessive disorder affecting the skin and mucosa. We present a prospective evaluation of three patients of pyloric atresia at our institute over last 2 years (2012-2014)-one of them presenting at 5th day of life and the other two at 5 and 6 years of age, respectively. Two of them did not have any other associated anomaly whereas one patient had incidental finding of Meckel's diverticulum at the time of surgery for pyloric atresia plus he had been operated upon for right-sided pelvioureteric junction obstruction at 1 year of age. All patients underwent laparotomy after stabilization. The two patients presenting late had type 1 pyloric atresia with a pyloric membrane having a central hole in both the patients. So, excision of the membrane with Heineke Mikulicz pyloroplasty was done in both of them. The neonate who presented early had type 2 pyloric atresia and underwent Finney's pyloroplasty.

  11. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

    Science.gov (United States)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    2012-05-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

  12. Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies.

    Directory of Open Access Journals (Sweden)

    Aizati N A Daud

    Full Text Available A number of transporter proteins are expressed in the placenta, and they facilitate the placental transfer of drugs. The inhibition of P-glycoprotein (P-gp was previously found to be associated with an increase in the risk of congenital anomalies caused by drug substrates of this transporter. We now explore the role of other placental transporter proteins.A population-based case-referent study was performed using cases with congenital anomalies (N = 5,131 from EUROCAT Northern Netherlands, a registry of congenital anomalies. The referent population (N = 31,055 was selected from the pregnancy IADB.nl, a pharmacy prescription database.Ten placental transporters known to have comparable expression levels in the placenta to that of P-gp, were selected in this study. In total, 147 drugs were identified to be substrates, inhibitors or inducers, of these transporters. Fifty-eight of these drugs were used by at least one mother in our cases or referent population, and 28 were used in both. The highest user rate was observed for the substrates of multidrug resistance-associated protein 1, mainly folic acid (6% of cases, 8% of referents, and breast cancer resistance protein, mainly nitrofurantoin (2.3% of cases, 2.9% of referents. In contrast to P-gp, drug interactions involving substrates of these transporters did not have a significant effect on the risk of congenital anomalies.Some of the drugs which are substrates or inhibitors of placental transporters were commonly used during pregnancy. No significant effect of transporter inhibition was found on fetal drug exposure, possibly due to a limited number of exposures.

  13. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

    Directory of Open Access Journals (Sweden)

    Lely A. Quina

    2012-11-01

    Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. Here we show that dumbo rats and mice exhibit similar neonatal ear and eye phenotypes. In midgestation embryos, dumbo rats show a specific loss of Hmx1 expression in neural-crest-derived craniofacial mesenchyme (CM, whereas Hmx1 is expressed normally in retinal progenitors, sensory ganglia and in CM, which is derived from mesoderm. High-throughput resequencing of 1 Mb of rat chromosome 14 from dmbo/dmbo rats, encompassing the Hmx1 locus, reveals numerous divergences from the rat genomic reference sequence, but no coding changes in Hmx1. Fine genetic mapping narrows the dmbo critical region to an interval of ∼410 kb immediately downstream of the Hmx1 transcription unit. Further sequence analysis of this region reveals a 5777-bp deletion located ∼80 kb downstream in dmbo/dmbo rats that is not apparent in 137 other rat strains. The dmbo deletion region contains a highly conserved domain of ∼500 bp, which is a candidate distal enhancer and which exhibits a similar relationship to Hmx genes in all vertebrate species for which data are available. We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital ear

  14. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

    Science.gov (United States)

    Quina, Lely A.; Kuramoto, Takashi; Luquetti, Daniela V.; Cox, Timothy C.; Serikawa, Tadao; Turner, Eric E.

    2012-01-01

    SUMMARY Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS) in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo) mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. Here we show that dumbo rats and mice exhibit similar neonatal ear and eye phenotypes. In midgestation embryos, dumbo rats show a specific loss of Hmx1 expression in neural-crest-derived craniofacial mesenchyme (CM), whereas Hmx1 is expressed normally in retinal progenitors, sensory ganglia and in CM, which is derived from mesoderm. High-throughput resequencing of 1 Mb of rat chromosome 14 from dmbo/dmbo rats, encompassing the Hmx1 locus, reveals numerous divergences from the rat genomic reference sequence, but no coding changes in Hmx1. Fine genetic mapping narrows the dmbo critical region to an interval of ∼410 kb immediately downstream of the Hmx1 transcription unit. Further sequence analysis of this region reveals a 5777-bp deletion located ∼80 kb downstream in dmbo/dmbo rats that is not apparent in 137 other rat strains. The dmbo deletion region contains a highly conserved domain of ∼500 bp, which is a candidate distal enhancer and which exhibits a similar relationship to Hmx genes in all vertebrate species for which data are available. We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital

  15. Congenital anomalies, hereditary diseases of the pancreas, acute and chronic pancreatitis; Entwicklungsstoerungen, angeborene Erkrankungen des Pankreas, akute und chronische Pankreatitis

    Energy Technology Data Exchange (ETDEWEB)

    Brambs, Hans-Juergen; Juchems, Markus [Universitaetsklinikum Ulm (Germany). Abt. fuer Diagnostische und Interventionelle Radiologie

    2011-06-15

    The most important congenital anomalies include pancreas divisum, annular pancreas and ectopic pancreas. Patients with pancreas divisum may be more susceptible to acute or chronic pancreatitis and patients with an annular pancreas may develop duodenal stenosis. In pancreas divisum the key finding is the visualization of the main duct draining into the duodenum via the small papilla, separated from the common bile duct. Annular pancreas may show as a well defined ring of pancreatic tissue that encircles the duodenum. Ectopic pancreas is usually asymptomatic but may give rise to abdominal complaints and may be confused with submucosal tumors. Acute pancreatitis is classified as mild or severe. In mild forms ultrasound is the imaging modality of choice whereas in severe forms with extensive pancreatic and peripancreatic necroses computed tomography is the favored method. It is crucial to identify signs and criteria that come along with an increased risk of infection of the necroses. MRI plays an inferior role in the assessment of acute pancreatitis. Chronic pancreatitis is a longstanding inflammatory and fibrosing process causing pain and loss of function. Cross-section imaging is particularly in demand for the detection of complications and the differentiation from pancreatic cancer. Autoimmune pancreatitis is a unique form of chronic pancreatitis characterized by lymphoplasmacytic infiltration and fibrosis, and favourable response to corticosteroid treatment. (orig.)

  16. Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

    Science.gov (United States)

    Novo-Filho, Gil M; Montenegro, Marília M; Zanardo, Évelin A; Dutra, Roberta L; Dias, Alexandre T; Piazzon, Flavia B; Costa, Taís V M M; Nascimento, Amom M; Honjo, Rachel S; Kim, Chong A; Kulikowski, Leslie D

    2016-01-01

    The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14.3%), including 8 patients with subtelomeric deletions at 4p/4q (53.3%). Additional genomic changes were observed at 1p36, 2q37.3, 5p15.3, 5q35.3, 8p23.3, 13q11, 14q32.3, 15q11.2, and Xq28/Yq12. This indicates the prevalence of independent deletions at 4p/4q, involving PIGG, TRIML2, and FRG1. Furthermore, we identified 15 genes with changes in copy number that contribute to neurological development and/or function, among them CRMP1, SORCS2, SLC25A4, and HELT. Our results highlight the association of genes with changes in copy number at 4p and 4q subtelomeric regions and the DD phenotype. Cytogenomic characterization of additional cases with distal deletions should help clarifying the role of subtelomeric CNVs in neurological diseases. © 2016 S. Karger AG, Basel.

  17. Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract

    Directory of Open Access Journals (Sweden)

    Geisilaine Soares dos Reis

    2014-01-01

    Full Text Available OBJECTIVE: To determine the frequency of different phenotypes for congenital anomalies of the kidney and urinary tract (CAKUT in a Brazilian sample, and to evaluate the association between the CAKUT phenotypes and the BMP4 gene. METHODS: In this study, 457 Brazilian individuals were analyzed in an attempt to establish the association between the BMP4 gene and the CAKUT diagnosis. A case-control sample was genotyped for three BMP4 gene polymorphisms. RESULTS: Association data was established with CAKUT sample as a whole and with the three most important CAKUT phenotypes: multicystic dysplastic kidney disease (MDK, ureteropelvic junction obstruction (UPJO and vesicoureteral reflux (VUR. When the sample was segregated in these three phenotypes, associations between the BMP4 gene were observed with UPJO and with MDK. Conversely, VUR was not associated to the polymorphisms of the BMP4 gene. CONCLUSIONS: The present data suggest that Brazilian individuals with polymorphisms of the BMP4 gene have a higher risk to develop CAKUT, especially the malformations related to nephrogenesis and initial branching such as MDK and UPJO. Conversely, VUR appeared not to be related to BMP4 gene.

  18. Parents' perceptions of counselling following prenatal diagnosis of congenital anomalies of the kidney and urinary tract: a qualitative study.

    Science.gov (United States)

    Marokakis, Sarah; Kasparian, Nadine A; Kennedy, Sean E

    2017-03-01

    To explore parents' experiences of counselling after prenatal diagnosis of congenital anomalies of the kidney and urinary tract. Parents of a child born between September 2012 and March 2015 with posterior urethral valves (PUV) or multicystic dysplastic kidney (MCDK) completed a semi-structured telephone interview, demographic survey, and the 21-item self-report Depression, Anxiety and Stress Scales questionnaire. Qualitative data were analysed thematically using NVivo10 software. In all, 17 parents (PUV, eight; MCDK, nine) participated (response rate 40%), and most were offered counselling during pregnancy (14/17). Parents described feelings of shock, fear and uncertainty after diagnosis, and desired early information on all aspects of their child's condition. Most participants were satisfied with the information received; however, unmet information needs relating to treatment and prognosis were identified, particularly amongst fathers and parents in the PUV group. Some parents felt relieved after counselling (12/17); however, emotional distress often persisted long after diagnosis. Parents described a need for written and web-based information resources, specialised psychological services, and parent support groups. While parents valued counselling, many continued to report unmet informational and psychological needs. Early counselling addressing topics important to parents and provision of additional resources and support services may improve parents' adjustment to their baby's diagnosis. © 2016 The Authors BJU International © 2016 BJU International Published by John Wiley & Sons Ltd.

  19. Pluripotent stem cells are protected from cytomegalovirus infection at multiple points: implications of a new pathogenesis for congenital anomaly caused by cytomegalovirus.

    Science.gov (United States)

    Kawasaki, Hideya

    2012-09-01

    In humans, the cytomegalovirus (CMV) is the most significant cause of intrauterine infections that cause congenital anomalies. Intrauterine infection with human CMV is thought to be responsible for a variety of abnormalities, including mental retardation, microcephaly, developmental delay, seizure disorders, and cerebral palsy, depending on the timing of the fetal infection, the infectious route, and the virulence of the virus. In addition to the adaptive immune system, the embryo has potential resistance to CMV during early embryogenesis. Embryonic stem (ES) cells are more resistant to CMV than most other cell types, although the mechanism responsible for this resistance is not well understood. ES cells allow approximately 20-fold less murine CMV (MCMV) DNA to enter the nucleus than mouse embryonic fibroblasts (MEFs), and this inhibition occurs in a multistep manner. In situ hybridization showed that ES cell nuclei had significantly less MCMV DNA than MEF nuclei. This finding appears to be supported by the fact that ES cells express less heparan sulfate, β1-integrin, and vimentin and have fewer nuclear pores than differentiated cells such as MEF. This may reduce the ability of MCMV to attach to and enter the cellular membrane, translocate to the nucleus, and cross the nuclear membrane in pluripotent stem cells (ES-induced pluripotent stem cells). This finding may indicate a new pathogenesis for the congenital anomaly caused by CMV. © 2012 The Author. Congenital Anomalies © 2012 Japanese Teratology Society.

  20. Innovación en la reconstrucción del pabellón auricular disgenésico con tejido expandido e implante Innovation in congenital auricular anomaly reconstruction using expanded tissue and prosthetic material

    Directory of Open Access Journals (Sweden)

    P. Iwanyk

    2007-06-01

    Full Text Available En la reconstrucción de un pabellón auricular disgenésico se plantean, básicamente, dos desafíos, reproducir un esqueleto cartilaginoso auricular de forma, tamaño y proyección similar al pabellón auricular normal, y obtener piel suficiente que combine color, textura y grosor semejante a la circundante. Debido a la escasa cantidad de piel útil en esta localización y a la dificultad en el tallado del esqueleto cartilaginoso auricular, iniciamos en 2005 en nuestro Hospital la reconstrucción auricular mediante combinación de tejidos expandidos locales y materiales protésicos, logrando un excelente resultado de apariencia natural.Reconstruction of congenital auricular anomalies includes two essential challenges. The first one is to sculpt an auricular cartilaginous structure that matches the shape, size and projection of a standard ear. The second challenge arises from the scarcity of the usable skin in the area. Because of the difficulty of sculpting a proper cartilage framework and the scarce quantity of skin in the area, in 2005 we began in our hospital auricular reconstruction procedure combining tissue expanders and prosthetic materials achieving a natural appearance and an excellent result.

  1. Mondini dysplasia and congenital cytomegalovirus infection.

    Science.gov (United States)

    Bauman, N M; Kirby-Keyser, L J; Dolan, K D; Wexler, D; Gantz, B J; McCabe, B F; Bale, J F

    1994-01-01

    We report a case of bilateral temporal bone anomalies in a child with symptomatic congenital cytomegalovirus infection and severe, bilateral sensorineural hearing loss identified at 3 months of age. High-resolution temporal bone computed tomography (HRCT) revealed bilateral findings of a short, malformed cochlea lacking an interscalar septum, a short and wide internal auditory canal, and an enlarged vestibular aqueduct, features diagnostic of bilateral Mondini dysplasia. To determine the importance of this observation, we completed HRCT in five additional children between 7 months and 9 years of age who had evidence of symptomatic congenital cytomegalovirus infection. One child with profound sensorineural hearing loss had severe bilateral temporal bone dysplasia with a small cochlea lacking an interscalar septum, an abnormal vestibule, and a large cochlear aqueduct. Of the remaining four children, hearing thresholds ranged from normal to profoundly decreased, but their HRCT scans were normal to visual inspection. When inner ear dimensions of these temporal bones were compared with norms established by Pappas and coworkers, however, seven of the eight ears had short cochleas and narrow lateral semicircular canals, and three ears had short or narrow vestibules. These results indicate that congenital cytomegalovirus infection may cause anomalies or growth disturbances of the temporal bone.

  2. Congenital Malrotation of the Atlas with Unilateral Hypertrophy of the Atlanto-occipital Joint-A Rare Anomaly of the Craniovertebral Junction and Its Management.

    Science.gov (United States)

    Nath, Pratap Chandra; Mishra, Sudhansu Sekhar; Deo, Rama Chandra; Mahanta, Itibrata

    2016-04-01

    Congenital anomalies are commonly encountered in the craniovertebral junction because of its unique embryologic development. The craniovertebral junction usually comprises the occiput, atlas, and axis. However, malrotation of the atlas (C1) in between the occiput (C0) and axis (C2) with Chiari I malformation as well as unilateral hypertrophy of the atlanto-occipital joint and a lateral mass manifesting features of high cervical myelopathy is a rarely reported anomaly. A 22-year-old woman presented to us with high cervical compressive myelopathy. Imaging revealed rotation of the C1 vertebra approximately 20° toward the left side with right atlanto-occipital joint dislocation and hypertrophy. Imaging also revealed hypertrophy of a right lateral mass of C1, Chiari I malformation, and right atlantoaxial dislocation exposing the right C2 superior facet. She underwent a right extreme far lateral approach comprising a right C1 posterior arch excision and medialization of the right vertebral artery with excision of the hypertrophied atlanto-occipital joint extradurally and posteromedial excision of the superior articular facet of C1. The patient's compressive myelopathy features improved postoperatively. We report the successful management of this rare congenital anomaly and review the literature. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Cochleovestibular anomalies in children with cholesteatoma.

    Science.gov (United States)

    Propst, Evan J; Blaser, Susan; Trimble, Keith; James, Adrian; Friedberg, Jacob; Papsin, Blake C

    2008-03-01

    To describe the cochleovestibular apparatus on computed tomography (CT) imaging in patients with cholesteatoma. We asked whether cochleovestibular anomalies coexist in individuals with cholesteatoma. Randomized, controlled, prospective measurement. A database search yielded 145 children with cholesteatoma: 31 met inclusion criteria by not having sensorineural hearing loss, not having an associated syndrome, and having digitally stored temporal bone CT imaging available. Prospective measurement of 31 individuals (62 ears) with unilateral cholesteatoma and 32 normally hearing nonsyndromic controls (64 ears) was performed by a neuroradiologist blinded to the study objective. Twenty-six temporal bone aspects on axial imaging were evaluated (16 measurement, 10 calculated from measurement). The cholesteatoma group had a larger endolymphatic fossa and vestibular aqueduct, and there was a trend for the lateral semicircular canal vestibule to be smaller as compared with controls. Subgroup analysis revealed a gradient in prevalence of these findings being most common in the congenital cholesteatoma group, intermediate in the acquired cholesteatoma group, and least common in controls. There were no differences in measurements between ears with cholesteatoma and contralateral disease-free temporal bones. Children with cholesteatoma have abnormal vestibular anatomy. The gradient in prevalence of these findings may suggest a relationship between congenital and acquired cholesteatoma. These may include a generalized temporal bone anomaly that predisposes to cholesteatoma formation, or a third variable such as genetic mutation may predispose to both anomalous cochleovestibular formation and cholesteatoma.

  4. European recommendations for primary prevention of congenital anomalies: A joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans

    DEFF Research Database (Denmark)

    Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca

    2014-01-01

    . The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations...... exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover...

  5. PTHrP-Related Hypercalcaemia in Infancy and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT

    Directory of Open Access Journals (Sweden)

    Nardeen Kodous

    2015-05-01

    Full Text Available Background: Severe hypercalcaemia is a rare but clinically significant condition in infancy and childhood. Parathyroid hormone-related peptide (PTHrP-mediated hypercalcaemia resulting from a malignancy is rare and only a handful of case reports have outlined its incidence alongside a benign condition. Objectives: To describe the diagnostic workup and management of an infant with hypercalcaemia, renal dysplasia, and elevated PTHrP levels. Design: Case report. Setting: The Victoria Hospital campus of the London Health Sciences Centre in London, Ontario, Canada. Patients: A child with congenital anomalies of the kidneys and urinary tract (CAKUT, stage 2 chronic kidney disease (CKD, and renal dysplasia who presented with severe hypercalcaemia. Measurements: Weight, renal ultrasound, creatinine, cystatin C, eGFR, calcium, urea, bicarbonate, serum sodium, fractional sodium excretion, urine calcium to creatinine ratio, PTH, TSH, Free T4, AM cortisol, HMA, VMA, 25-vitamin D, 1,25 dihydroxy-vitamin D, calcitriol, vitamin A, ACE levels, skull and chest x-rays, alkaline phosphatase, CBC, tumour lysis profile, catecholamine breakdown, whole-body MRI, PTHrP. Methods: Full diagnostic workup and patient management. Patient treated with intravenous hydration, furosemide, calcitonin and CalciLo. Results: PTHrP was elevated and no evidence of a malignancy was found. Treatment consisting of a low-calcium CalciLo diet (in place of breast milk adequately controlled the patient's hypercalcaemia. Hypercalcaemia associated with CAKUT in infancy is not all that uncommon and was reported in 15/99 infants in another study, most of whom had a suppressed PTH similar to that of our patient. PTHrP was not measured in these cases and may have also been elevated. Limitations: The study is limited in that it is a description of a single patient case. Future measurement of PTHrP in similar patients is necessary to confirm our results. Conclusions: The possibility of elevated PTHr

  6. Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

    Science.gov (United States)

    Ali, Mohsin H; Azar, Nathalie F; Aakalu, Vinay; Chau, Felix Y; Abbasian, Javaneh; Setabutr, Pete; Maumenee, Irene H

    2018-04-01

    Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography. In addition, we review the literature on ocular manifestations of Wolf-Hirschhorn syndrome. Microarray analysis revealed an unbalanced translocation between 4p16.3-15.3 and Xp22.33-p22.2. Systemic findings included "Greek warrior helmet" facies, hypotonia, cleft palate, neonatal tooth eruption, talipes equinovarus, bilateral clinodactyly, clitoromegaly, partial agenesis of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects. Ocular findings included normal intraocular pressures and corneal diameters, large-angle exotropia, downward slanting of the palpebral fissures, absent eyelid creases, upper and lower eyelid retraction with shortage of the anterior eyelid lamellae, euryblepharon, lagophthalmos with poor Bell's reflex and exposure keratopathy, hypertelorism, Axenfeld's anomaly, megalopapillae, and cavitary optic disc anomaly. We describe the ocular phenotype of a patient with Wolf-Hirschhorn syndrome, including the rare descriptions and photographs of Axenfeld's anomaly, megalopapilla, and cavitary optic disc anomaly in this condition.

  7. Bilateral sequential cochlear implantation in the congenitally deaf child: evidence to support the concept of a 'critical age' after which the second ear is less likely to provide an adequate level of speech perception on its own.

    Science.gov (United States)

    Graham, John; Vickers, Debi; Eyles, Julie; Brinton, Julie; Al Malky, Ghada; Aleksy, Wanda; Martin, Jane; Henderson, Lise; Mawman, Deborah; Robinson, Philip; Midgley, Elizabeth; Hanvey, Kate; Twomey, Tracey; Johnson, Susan; Vanat, Zebunnisa; Broxholme, Cath; McAnallen, Cecilia; Allen, Agnes; Bray, Monica

    2009-09-01

    This study attempts to answer the question of whether there is a 'critical age' after which a second contralateral cochlear implant is less likely to provide enough speech perception to be of practical use. The study was not designed to predict factors that determine successful binaural implant use, but to see if there was evidence to help determine the latest age at which the second ear can usefully be implanted, should the first side fail and become unusable.Outcome data, in the form of speech perception test results, were collected from 11 cochlear implant programmes in the UK and one centre in Australia. Forty-seven congenitally bilaterally deaf subjects who received bilateral sequential implants were recruited to the study. The study also included four subjects with congenital unilateral profound deafness who had lost all hearing in their only hearing ear and received a cochlear implant in their unilaterally congenitally deaf ear. Of those 34 subjects for whom complete sets of data were available, the majority (72%) of those receiving their second (or unilateral) implant up to the age of 13 years scored 60 per cent or above in the Bamford Kowal Bench (BKB) sentence test, or equivalent. In contrast, of those nine receiving their second or unilateral implant at the age of 15 or above, none achieved adequate levels of speech perception on formal testing: two scored 29 per cent and 30 per cent, respectively, and the rest seven per cent or less.A discriminant function analysis performed on the data suggests that it is unlikely that a second contralateral implant received after the age of 16 to 18 years will, on its own, provide adequate levels of speech perception. As more children receive sequential bilateral cochlear implants and the pool of data enlarges the situation is likely to become clearer.The results provide support for the concept of a 'critical age' for implanting the second ear in successful congenitally deaf unilateral cochlear implant users. This

  8. Congenital inferior vena cava anomalies: a review of findings at multidetector computed tomography and magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Catherine Yang

    2013-07-01

    Full Text Available Inferior vena cava anomalies are rare, occurring in up to 8.7% of the population, as left renal vein anomalies are considered. The inferior vena cava develops from the sixth to the eighth gestational weeks, originating from three paired embryonic veins, namely the subcardinal, supracardinal and postcardinal veins. This complex ontogenesis of the inferior vena cava, with multiple anastomoses between the pairs of embryonic veins, leads to a number of anatomic variations in the venous return from the abdomen and lower limbs. Some of such variations have significant clinical and surgical implications related to other cardiovascular anomalies and in some cases associated with venous thrombosis of lower limbs, particularly in young adults. The authors reviewed images of ten patients with inferior vena cava anomalies, three of them with deep venous thrombosis. The authors highlight the major findings of inferior vena cava anomalies at multidetector computed tomography and magnetic resonance imaging, correlating them the embryonic development and demonstrating the main alternative pathways for venous drainage. The knowledge on the inferior vena cava anomalies is critical in the assessment of abdominal images to avoid misdiagnosis and to indicate the possibility of associated anomalies, besides clinical and surgical implications.

  9. Congenital inferior vena cava anomalies: a review of findings at multidetector computed tomography and magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Catherine; Trad, Clovis Simao [Central de Diagnostico Ribeirao Preto (CEDIRP), SP (Brazil); Trad, Henrique Simao, E-mail: hstrad@terra.com.br [Central de Diagnostico Ribeirao Preto (CEDIRP), SP (Brazil); Universidade de Sao Paulo (HC-FMRPUSP), Ribeirao Preto, SP (Brazil). Fac. de Medicina. Hospital das Clinicas; Mendonca, Silvana Machado [Clinica de Diagnostico por Imagem (CDPI), Rio de Janeiro, RJ (Brazil)

    2013-06-15

    Inferior vena cava anomalies are rare, occurring in up to 8.7% of the population, as left renal vein anomalies are considered. The inferior vena cava develops from the sixth to the eighth gestational weeks, originating from three paired embryonic veins, namely the subcardinal, supracardinal and postcardinal veins. This complex ontogenesis of the inferior vena cava, with multiple anastomoses between the pairs of embryonic veins, leads to a number of anatomic variations in the venous return from the abdomen and lower limbs. Some of such variations have significant clinical and surgical implications related to other cardiovascular anomalies and in some cases associated with venous thrombosis of lower limbs, particularly in young adults. The authors reviewed images of ten patients with inferior vena cava anomalies, three of them with deep venous thrombosis. The authors highlight the major findings of inferior vena cava anomalies at multidetector computed tomography and magnetic resonance imaging, correlating them the embryonic development and demonstrating the main alternative pathways for venous drainage. The knowledge on the inferior vena cava anomalies is critical in the assessment of abdominal images to avoid misdiagnosis and to indicate the possibility of associated anomalies, besides clinical and surgical implications. (author)

  10. Congenital inferior vena cava anomalies: a review of findings at multidetector computed tomography and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Yang, Catherine; Trad, Clovis Simao; Trad, Henrique Simao

    2013-01-01

    Inferior vena cava anomalies are rare, occurring in up to 8.7% of the population, as left renal vein anomalies are considered. The inferior vena cava develops from the sixth to the eighth gestational weeks, originating from three paired embryonic veins, namely the subcardinal, supracardinal and postcardinal veins. This complex ontogenesis of the inferior vena cava, with multiple anastomoses between the pairs of embryonic veins, leads to a number of anatomic variations in the venous return from the abdomen and lower limbs. Some of such variations have significant clinical and surgical implications related to other cardiovascular anomalies and in some cases associated with venous thrombosis of lower limbs, particularly in young adults. The authors reviewed images of ten patients with inferior vena cava anomalies, three of them with deep venous thrombosis. The authors highlight the major findings of inferior vena cava anomalies at multidetector computed tomography and magnetic resonance imaging, correlating them the embryonic development and demonstrating the main alternative pathways for venous drainage. The knowledge on the inferior vena cava anomalies is critical in the assessment of abdominal images to avoid misdiagnosis and to indicate the possibility of associated anomalies, besides clinical and surgical implications. (author)

  11. Visualization of normal and abnormal inner ear with volume rendering technique using multislice spiral CT

    International Nuclear Information System (INIS)

    Ma Hui; Han Ping; Liang Bo; Lei Ziqiao; Liu Fang; Tian Zhiliang

    2006-01-01

    Objective: To evaluate the ability of the volume rendering technique to display the normal and abnormal inner ear structures. Methods: Forty normal earand 61 abnormal inner ears (40 congenital inner ear malformations, 7 labyrinthitis ossificans, and 14 inner ear erosion caused by cholesteatomas) were examined with a MSCT scanner. Axial imaging were performed using the following parameters: 120 kV, 100 mAs, 0.75 mm slice thickness, a pitch factor of 1. The axial images of interested ears were reconstructed with 0.1 mm reconstruction increment and a FOV of 50 mm. The 3D reconstructions were done with volume rendering technique on the workstation. Results: In the subjects without ear disorders a high quality 3D visualization of the inner ear could be achieved. In the patients with inner ear' disorders all inner ear malformations could be clearly displayed on 3D images as follows: (1) Michel deformity (one ear): There was complete absence of all cochlear and vestibular structures. (2) common cavity deformity (3 ears): The cochlea and vestibule were represented by a cystic cavity and couldn't be differentiated from each other. (3)incomplete partition type I (3 ears): The cochlea lacked the entire modiolus and cribriform area, resulting in a cystic appearance. (4) incomplete partition type II (Mondini deformity) (5 ears): The cochlea consisted of 1.5 turns, in which the middle and apical turns coalesced to form a cystic apex. (5) vestibular and semicircular canal malformations (14 ears): Cochlea was normal, vestibule dilated, semicircular canals were absent, hypoplastic or enlarged. (6) dilated vestibular aqueduct (14 ears): The vestibular aqueduct was bell-mouthed. In 7 patients with labyrinthifis ossificans, 3D images failed to clearly show the completeinner ears in 4 ears because of too high ossifications in the membranous labyrinth. In the other 3 ears volume rendering could display the thin cochlea basal turn and the intermittent semicircular canals. In the patients

  12. Your Ears

    Science.gov (United States)

    ... Outer Ear: Catch the Wave The Middle Ear: Good Vibrations The Inner Ear: Nerve Signals Start Here Day or Night, Ears Keep You Upright Three Cheers for the Ears! en español Tus oídos Did you hear something? Maybe the sound you heard was as quiet as your cat licking her paws. Or maybe it was loud, ...

  13. Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

    Science.gov (United States)

    Uwineza, Annette; Caberg, Jean-Hubert; Hitayezu, Janvier; Hellin, Anne Cecile; Jamar, Mauricette; Dideberg, Vinciane; Rusingiza, Emmanuel K; Bours, Vincent; Mutesa, Leon

    2014-07-12

    Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent's 180 K microarray platform. Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.

  14. Congenital inferior vena cava anomalies: a review of findings at multidetector computed tomography and magnetic resonance imaging

    OpenAIRE

    Yang, Catherine; Trad, Henrique Simão; Mendonça, Silvana Machado; Trad, Clovis Simão

    2013-01-01

    Inferior vena cava anomalies are rare, occurring in up to 8.7% of the population, as left renal vein anomalies are considered. The inferior vena cava develops from the sixth to the eighth gestational weeks, originating from three paired embryonic veins, namely the subcardinal, supracardinal and postcardinal veins. This complex ontogenesis of the inferior vena cava, with multiple anastomoses between the pairs of embryonic veins, leads to a number of anatomic variations in the venous return fro...

  15. Prevalence of Congenital Coronary Artery Anomalies and Variants in 2697 Consecutive Patients Using 64-Detector Row Coronary CTAngiography

    International Nuclear Information System (INIS)

    Shabestari, Abbas Arjmand; Akhlaghpoor, Shahram; Tayebivaljozi, Reza; Fattahi Masrour, Farzaneh

    2012-01-01

    Coronary artery anomalies are not common, but could be very serious. This study determines the frequency of coronary anomalies and normal variants by multi-detector-row computed tomography (MDCT). The results of cardiac MDCT study in 2697 consecutive patients were analyzed retrospectively. Acquisition was performed by a 64-detector row CT machine. Imaging results were assessed by experienced radiologists. Myocardial bridging was by far the most frequent coronary variant (n = 576, 21.3%). Eighty-three subjects (3.1%) showed other coronary anomalies and variants. Anomalies of origination and course of the left main coronary artery (LMCA) were detected in 1.09% of the subjects. The frequency of these anomalies in the right coronary artery (RCA), left circumflex artery (LCx), left anterior descending artery (LAD), posterior descending artery (PDA) and obtuse marginal (OM) artery were 1.24%, 0.33%, 0.1%, 0.07% and 0.03%, respectively. The single coronary pattern was seen in 0.18% and coronary fistulas in 0.07%. Based on the fact that coronary CT-angiography using MDCT can display different coronary anomalies, this study shows similar results to other reports on the subject. Future advances in the performance of CT machines will further improve the quality of CT-based cardiac imaging

  16. Tracheobronchial Branching Anomalies

    International Nuclear Information System (INIS)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick; Park, A Young

    2010-01-01

    There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

  17. Tracheobronchial Branching Anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick [Soonchunhyang University, Cheonan Hospital, Cheonan (Korea, Republic of); Park, A Young [Soonchunhyang University College of Medicine, Asan (Korea, Republic of)

    2010-04-15

    There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

  18. Strategies to achieve sustainability and quality in birth defects registries: the experience of the National Registry of Congenital Anomalies of Argentina.

    Science.gov (United States)

    Groisman, Boris; Bidondo, Maria Paz; Gili, Juan Antonio; Barbero, Pablo; Liascovich, Rosa

    2013-01-01

    In many low-and middle-income countries, birth defects are not considered a public health priority and are perceived by the medical community as rare, unpreventable events. In this context, a registry of birth defects should address not only the collection, analysis, and dissemination of information but also contribute to local interventions like prevention, diagnosis, and treatment. We describe the National Registry of Congenital Anomalies of Argentina (RENAC) in terms of case definition, data collection, quality assurance, and data sending, coding, analysis, and information dissemination and we present the strategies used to ensure its sustainability. We emphasize strategies for motivating the people collecting data, such as training activities, participation in research projects, returning the processed data, making useful clinical information available, giving non-monetary rewards, and linking cases to genetic services.

  19. Communication outcomes following cochlear implantation in a child with cystic cochleovestibular anomaly

    OpenAIRE

    Banumathy, N.; Panda, Naresh

    2016-01-01

    Cochlear implantation is one of the best amongst the various management options available for children and adults with severe to profound sensorineural hearing loss. Inner ear and internal auditory canal (IAC) malformations accounts to approximately 25% of congenital sensorineural hearing loss in children. The primary goal of this report was to evaluate the communication outcomes after cochlear implantation in a child with cystic cochleovestibular anomaly (CCVA). The child was evaluated throu...

  20. The frequency and spectrum of congenital anomalies in natural family planning users in South America: no increase in a case-control study. NFP-ECLAMC Group. Natural Family Planning. Latin-American Collaborative Study of Congenital Malformations.

    Science.gov (United States)

    Castilla, E E; Lopez-Camelo, J S; da Graça Dutra, M; Queenan, J T; Simpson, J L

    1997-12-01

    Users of natural family planning (NFP) practice periodic abstinence, leading many to reason that such couples should show increased anomalies in offspring as a result of fertilization involving aging gametes. In an effort to complement our NFP cohort study, we currently conducted a case-control study in the same region (South America) in which the largest number of cases have been recruited for our cohort NFP study. During 1992-94, 5324 case-control pairs of mothers were interviewed during the immediate postpartum period in 18 maternity hospitals participating in the Latin-American Collaborative Study of Congenital Malformations: ECLAMC (Spanish acronym for Latin-American Collaborative Study of Congenital Malformations). Natural family planning (NFP) usage was recorded in 6% of mothers in the ECLAMC sample studied (n = 10,648). Overall, no significant differences in frequency of NFP usage were observed between malformed cases (349/5324 = 6.6%) and normal controls (303/5324 = 5.7%) (chi 2 = 3.3; df = 1; p > 0.05). No significant differences in sex ratios were observed between children of NFP user and non-user mothers. Of special interest is the lack of association between NFP and Down syndrome, the sentinel phenotype for the hypothesis of delayed fertilization (aging gametes).

  1. Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

    Science.gov (United States)

    2014-01-01

    Background Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. Methods Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent’s 180 K microarray platform. Results Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. Conclusion This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries. PMID:25016475

  2. Does maternal exposure to benzene and PM10 during pregnancy increase the risk of congenital anomalies? A population-based case-control study

    Science.gov (United States)

    Vinceti, Marco; Malagoli, Carlotta; Malavolti, Marcella; Cherubini, Andrea; Maffeis, Giuseppe; Rodolfi, Rossella; Heck, Julia E.; Astolfi, Gianni; Calzolari, Elisa; Nicolini, Fausto

    2015-01-01

    A few studies have suggested an association between maternal exposure to ambient air pollution from vehicular traffic and risk of congenital anomalies in the offspring, but epidemiologic evidence is neither strong nor entirely consistent. In a population-based case-control study in a Northern Italy community encompassing 228 cases of birth defects and 228 referent newborns, we investigated if maternal exposure to PM10 and benzene from vehicular traffic during early pregnancy, as estimated through a dispersion model, was associated with excess teratogenic risk. In conditional logistic regression analysis, and with adjustment for the other pollutant, we found that higher exposure to PM10 but not benzene was associated with increased risk of birth defects overall. Anomaly categories showing the strongest dose-response relation with PM10 exposure were musculoskeletal and chromosomal abnormalities but not cardiovascular defects, with Down syndrome being among the specific abnormalities showing the strongest association, though risk estimates particularly for the less frequent defects were statistically very unstable. Further adjustment in the regression model for potential confounders did not considerably alter the results. All the associations were stronger for average levels of PM10 than for their maximal level. Findings of this study give some support for an excess teratogenic risk following maternal exposure during pregnancy to PM10, but not benzene. Such association appears to be limited to some birth defect categories. PMID:26410719

  3. Ear Infection (Middle Ear)

    Science.gov (United States)

    ... back of the nose believed to play a role in immune system activity. This function may make them particularly vulnerable to infection, inflammation and swelling. Because adenoids are near the ... likely to play a role in ear infections in children because children have ...

  4. Swimmer's Ear

    Science.gov (United States)

    ... Body Mind Sexual Health Food & Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying Safe Videos for Educators Search English Español Swimmer's Ear KidsHealth / ... español Otitis del nadador What Is Swimmer's Ear? Swimmer's ear is an infection of the ear canal . If you stick your ...

  5. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  6. Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro (Tokyo Univ. (Japan). Faculty of Medicine); Matsumura, Kiichiro

    1993-12-01

    Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author).

  7. Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

    International Nuclear Information System (INIS)

    Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro; Matsumura, Kiichiro.

    1993-01-01

    Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author)

  8. Congenital Anomalies in Children of Mothers Taking Antiepileptic Drugs with and without Periconceptional High Dose Folic Acid Use: A Population-Based Cohort Study.

    Directory of Open Access Journals (Sweden)

    Lu Ban

    Full Text Available Antenatal antiepileptic drug (AED use has been found to be associated with increased major congenital anomaly (CA risks. However whether such AED-associated risks were different according to periconceptional high dose (5mg daily folic acid supplementation is still unclear.We included 258,591 singleton live-born children of mothers aged 15-44 years in 1990-2013 from The Health Improvement Network, a large UK primary care database. We identified all major CAs according to the European Surveillance of Congenital Anomalies classification. Absolute risks and adjusted odds ratios (aOR were calculated comparing children of mothers prescribed AEDs to those without such prescriptions, stratified by folic acid prescriptions around the time of conception (one month before conception to two months post-conception.CA risk was 476/10,000 in children of mothers with first trimester AEDs compared with 269/10,000 in those without AEDs equating to an aOR of 1.82, 95% confidence interval 1.30-2.56. The highest system-specific risks were for heart anomalies (198/10,000 and 79/10,000 respectively, aOR 2.49,1.47-4.21. Sodium valproate and lamotrigine were both associated with increased risks of any CA (aOR 2.63,1.46-4.74 and aOR 2.01,1.12-3.59 respectively and system-specific risks. Stratification by folic acid supplementation did not show marked reductions in AED-associated risks (e.g. for CAs overall aOR 1.75, 1.01-3.03 in the high dose folic acid group and 1.94, 95%CI 1.21-3.13 in the low dose or no folic acid group; however, the majority of mothers taking AEDs only initiated high dose folic acid from the second month of pregnancy.Children of mothers with AEDs in the first trimester of pregnancy have a 2-fold increased risk of major CA compared to those unexposed. We found no evidence that prescribed high dose folic acid supplementation reduced such AED-associated risks. Although statistical power was limited, prescribing of folic acid too late for it to be

  9. The role of religion in decision-making on antenatal screening of congenital anomalies: a qualitative study amongst Muslim Turkish origin immigrants.

    Science.gov (United States)

    Gitsels-van der Wal, Janneke T; Manniën, Judith; Ghaly, Mohammed M; Verhoeven, Pieternel S; Hutton, Eileen K; Reinders, Hans S

    2014-03-01

    to explore what role religious beliefs of pregnant Muslim women play in their decision-making on antenatal screening, particularly regarding congenital abnormalities and termination, and whether their interpretations of the religious doctrines correspond to the main sources of Islam. qualitative pilot study using in-depth interviews with pregnant Muslim women. one midwifery practice in a medium-sized city near Amsterdam participated in the study. 10 pregnant Muslim women of Turkish origin who live in a high density immigrant area and who attended primary midwives for antenatal care were included in the study. to explore the role of religion in decision-making on antenatal screening tests, a topic list was constructed, including four subjects: being a (practising) Muslim, the view on unborn life, the view on disabled life and the view on termination. To analyse the interviews, open and axial coding based on the Grounded Theory was used and descriptive and analytical themes were identified and interpreted. all 10 interviewees stated that their faith played a role in their decision-making on antenatal screening, specific to the combined test. They did not consider congenital anomalies as a problem and did not consider termination to be an option in case of a disabled fetus. However, the Islamic jurisprudence considers that termination is allowed if the fetus has serious abnormalities, but only before 19 weeks plus one day of gestation. religious convictions play a role regarding antenatal screening in pregnant Muslim women of Turkish origin. The interviewees did not consider a termination in case of an affected child. Women were unaware that within Islamic tradition there is the possibility of termination if a fetus has serious anomalies. Incomplete knowledge of religious doctrines may be influencing both decisions of antenatal screening and diagnostic tests uptake and of terminating a pregnancy for fetuses with serious anomalies. counsellors should be aware of the

  10. Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children.

    Science.gov (United States)

    He, Huan; Sun, Feifei; Ren, Weidong; Wang, Yonghuai; Xu, Shu

    2016-10-01

    Unilateral lung agenesis, a rare congenital deformity, is secondary to abnormal embryonic development, leading to a shift of the mediastinum and remaining lung. In our case reports, we describe the diagnostic courses of two pediatric patients with unilateral lung agenesis admitted to our hospital in 2014. We present and compare the findings in transthoracic echocardiography with that in CT. Echocardiography played a pivotal role in revealing pulmonary deformities and leading to the diagnosis. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:514-517, 2016. © 2016 Wiley Periodicals, Inc.

  11. Preoperative evaluation of the congenital aural atresia on computed tomography; an analysis of the severity of the deformity of the middle ear and mastoid

    Energy Technology Data Exchange (ETDEWEB)

    Tasar, Mustafa [Gulhane Medical School, Department of Radiology, Etlik-Ankara (Turkey)]. E-mail: tasarmus@yahoo.com; Yetiser, Sertac [Gulhane Medical School, Department of ORL and HNS (Turkey); Yildirim, Duzgun [Gulhane Medical School, Department of Radiology, Etlik-Ankara (Turkey); Bozlar, Ugur [Gulhane Medical School, Department of Radiology, Etlik-Ankara (Turkey); Tasar, M. Aysin [Ankara Hospital, Department of Pediatrics (Turkey); Saglam, Mutlu [Gulhane Medical School, Department of Radiology, Etlik-Ankara (Turkey); Ugurel, M. Sahin [Gulhane Medical School, Department of Radiology, Etlik-Ankara (Turkey); Battal, Bilal [Gulhane Medical School, Department of Radiology, Etlik-Ankara (Turkey); Ucoz, Taner [Gulhane Medical School, Department of Radiology, Etlik-Ankara (Turkey)

    2007-04-15

    Objective: To compare the development of temporal bone in normal and atretic ears and to assess some radiological landmarks that could be important in the hearing restoration interventions in such patients. Material and methods: Thirty-five patients with 40 atretic external ears were evaluated with temporal bone CT and compared to a control group of 40 normal ears retrospectively. Using comparable slice levels in all patients, the course and the caliper of the facial canal, the surface area of the incus and malleus, the level of mastoid aeration, the location and anteroposterior diameters of the jugular bulb and sigmoid sinus, the direction and the caliber of the tympanic bony part of the Eustachian tube, area of the middle ear cavity, distance from facial nerve to incudomalleolar joint, to the vestibule and to the jugular bulb were included in the assessment. Non-parametric and parametric statistical tests were used for comparison. Results: In atretic ears middle ear sectional area was found to be smaller at the equivalent plane as compared to control subjects (mean area index: 19.3 mm{sup 2} versus 47.4 mm{sup 2}). Mastoid aeration was low in general and the ossicles in the atretic ears were hypoplastic (mean ossicular sectional area: 8.3 mm{sup 2} versus 11 mm{sup 2}). The distance from the jugular bulb to the facial nerve was significantly lower (mean: 6.2 mm versus 6.8 mm) (p < 0.05) in the atretic ears. Facial canal caliber, distance from the facial canal to the incudomalleolar joint and distance from the facial canal to the vestibule in the atretic ears (means: 1.49, 2.93 and 1.82, respectively) did not show statistically significant difference from the control subjects (means: 1.44, 2.91 and 1.83, respectively) (p > 0.05 for all). Conclusion: External ear atresia is significantly associated with middle ear and mastoid abnormalities. The ossicles were underdeveloped which always have to be considered during reconstructive surgery. Radiologically, in the

  12. First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

    Directory of Open Access Journals (Sweden)

    shahin abdollahi fakhim

    2014-10-01

    Full Text Available Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal.   Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection.   Conclusion:  It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear.

  13. Is the probability of prenatal diagnosis or termination of pregnancy different for fetuses with congenital anomalies conceived following assisted reproductive techniques? A population-based evaluation of fetuses with congenital heart defects.

    Science.gov (United States)

    Tararbit, K; Lelong, N; Jouannic, J-M; Goffinet, F; Khoshnood, B

    2015-06-01

    To compare the probability of prenatal diagnosis (PND) and termination of pregnancy for fetal anomaly (TOPFA) between fetuses conceived by assisted reproductive techniques (ART) and spontaneously-conceived fetuses with congenital heart defects (CHD). Population-based observational study. Paris and surrounding suburbs. Fetuses with CHD in the Paris registry of congenital malformations and cohort of children with CHD (Epicard). Comparison of ART-conceived and spontaneously conceived fetuses taking into account potential confounders (maternal characteristics, multiplicity and year of birth or TOPFA). Probability and gestational age at PND and TOPFA for ART-conceived versus spontaneously conceived fetuses. The probability of PND (28.1% versus 34.6%, P = 0.077) and TOPFA (36.2% versus 39.2%, P = 0.677) were not statistically different between ART-conceived (n = 171) and spontaneously conceived (n = 4620) fetuses. Estimates were similar after adjustment for potential confounders. Gestational age at PND tended to be earlier for ART fetuses (23.1 versus 24.8 weeks, P = 0.05) but no statistical difference was found after adjustment for confounders. Gestational age at TOPFA was comparable between ART-conceived and spontaneously conceived fetuses. In our population, ART conception was not significantly associated with the probability of PND or TOPFA for CHD. One implication of our results is that live births may be adequate for assessing the overall risk of CHD related to ART. However, total prevalence, in particular of severe CHD, would not be adequately assessed if TOPFA are not included. © 2015 Royal College of Obstetricians and Gynaecologists.

  14. Pierced Ears

    Science.gov (United States)

    ... how they do things is to watch another customer get his or her ears pierced. Without these precautions, you run the risk of getting infected ears. Metal Matters Your first earrings should have gold posts (the ...

  15. Unusual trend in the prevalence of trisomy 13 in mothers aged 35 and older: A population based study of national congenital anomaly data.

    Science.gov (United States)

    Nair, Deepa Balachandran; Tucker, David; Hughes, Rhian; Greenacre, Judith; Morgan, Margery

    2015-07-01

    Trisomy 13 is one of the three autosomal trisomies compatible with viability. It is associated with structural anomalies, learning disability and poor survival. Advanced maternal age is the most frequently suggested risk factor. This is a population based register study to investigate the temporal trends of trisomy 13. Chromosomal trisomies were reviewed by the Welsh Congenital Anomaly Register using data from 1998-2012. All pregnancy outcomes were included. Prevalence rates and trends for all cases and for cases with mothers aged below 35 years and those aged 35 years and older were plotted for trisomy 13, 18 and 21. Possible risk factors contributing to the trend in older mothers were compared in the early and late period of the study. There were 124 cases of trisomy 13 over the 15 year period with 55 mothers aged 35 years and older. Overall prevalence was 2.5 per 10,000 total births. A significant declining trend in the prevalence of trisomy 13 in mothers aged 35 and older (χ(2) trend = 4.98, p=0.026) was noted. Rates for younger mothers were lower and remained stable. Prevalence of trisomy 18 and 21 in older mothers remained stable. The unexpected declining trend in trisomy 13 in older mothers could not be explained by the risk factors examined in this study. There have been no other reports of trends in the prevalence of trisomy 13 in older mothers in recent years. There is further need for surveillance of trends in future and in other populations. © 2015 Wiley Periodicals, Inc.

  16. Airplane Ear

    Science.gov (United States)

    ... your flight. If you're prone to severe airplane ear and must fly often, your doctor may surgically place tubes in your eardrums to aid fluid drainage, ventilate your middle ear, and equalize the ... prevent airplane ear These additional tips can help young children ...

  17. Ear Tubes

    Science.gov (United States)

    ... of the ear drum or eustachian tube, Down Syndrome, cleft palate, and barotrauma (injury to the middle ear caused by a reduction of air pressure, ... specialist) may be warranted if you or your child has experienced repeated ... fluid in the middle ear, barotrauma, or have an anatomic abnormality that ...

  18. Prevalence of recurrent urinary tract infection in children with congenital anomalies of the kidney and urinary tract (CAKUT)

    Science.gov (United States)

    Ramayani, O. R.; Eyanoer, P. C.; Ritarwan, K.; Siregar, B.; Siregar, R. S.

    2018-03-01

    Prevalence of congenital abnormalities varies from 3.5% up to 43% in pediatrics.This wide interval is due to limited numbers of research. Limitation of data on recurrent urinary tract infection in CAKUT infants as well as symptoms which resemble other diseases makes it quite a challenge. A study of the prospective cohort was established to analyze the prevalence of recurrent UTI among CAKUT in children at Neonatal and Nephrology Paediatric Department of H.Adam Malik Hospital from 2016 to 2017.Urinalysis and urine culture were used to assess the presence of UTI. The result showed that the prevalence of UTI in CAKUT patients reached 64% in which 52% is the obstructive type and 12% non-obstructive type. Pelvic ureteric junction obstruction is the most common cause. Children with known urinary tract problems such as CAKUT are very prone to developing recurrent UTI. Due to a low survival rate of children with ESKD, new strategies are needed to prevent CAKUT, preserve renal function, and reduce associated cardiovascular morbidity. Meanwhile, children with CAKUT requires a multi-disciplinary and longer follow up.

  19. Selective serotonin reuptake inhibitors and risk of major congenital anomalies for pregnancies in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study.

    Science.gov (United States)

    Nishigori, Hidekazu; Obara, Taku; Nishigori, Toshie; Mizuno, Satoshi; Metoki, Hirohito; Hoshiai, Tetsuro; Watanabe, Zen; Sakurai, Kasumi; Ishikuro, Mami; Tatsuta, Nozomi; Nishijima, Ichiko; Fujiwara, Ikuma; Kuriyama, Shinichi; Arima, Takahiro; Nakai, Kunihiko; Yaegashi, Nobuo

    2017-05-01

    We analyzed data from the Japan Environment and Children's Study (JECS), on the association between selective serotonin reuptake inhibitors (SSRI) use during pregnancy and the risk of developing of major congenital anomalies in Japan. JECS is an ongoing nationwide birth cohort study. The study includes 95 994 single pregnant women and their offspring. Among them, 172 used any SSRI up to the 12 th gestational week. Crude analyses show a significantly increased incidence of upper limb, abdominal, and urogenital abnormalities. In particular, the incidence of microcephaly, hydrencephalus, esophageal atresia, small intestinal atresia, and achondroplasia was significantly higher with than without exposure to these substances. On multivariate analyses, urogenital abnormality was significant (odds ratio 3.227; 95% confidence interval: 1.460-7.134). This Japanese nationwide birth cohort survey clarified that the use of any SSRI until the 12 th gestational week was associated with urogenital abnormality in children. The survey for association with minor classification abnormality needs further examination in Japan. © 2016 Japanese Teratology Society.

  20. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

    Science.gov (United States)

    Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

    2003-11-01

    Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

  1. Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

    Science.gov (United States)

    Brett, Maggie; McPherson, John; Zang, Zhi Jiang; Lai, Angeline; Tan, Ee-Shien; Ng, Ivy; Ong, Lai-Choo; Cham, Breana; Tan, Patrick; Rozen, Steve; Tan, Ene-Choo

    2014-01-01

    Developmental delay and/or intellectual disability (DD/ID) affects 1–3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81–84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322× to 798×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. PMID:24690944

  2. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

    Science.gov (United States)

    Vaher, Ulvi; Nõukas, Margit; Nikopensius, Tiit; Kals, Mart; Annilo, Tarmo; Nelis, Mari; Ounap, Katrin; Reimand, Tiia; Talvik, Inga; Ilves, Pilvi; Piirsoo, Andres; Seppet, Enn; Metspalu, Andres; Talvik, Tiina

    2014-12-01

    Epileptic encephalopathies represent a clinically and genetically heterogeneous group of disorders, majority of which are of unknown etiology. We used whole-exome sequencing of a parent-offspring trio to identify the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at the age of 17 months because of respiratory illness and identified a de novo heterozygous missense mutation (c.3979A>G; p.Ile1327Val) in SCN8A (voltage-gated sodium-channel type VIII alpha subunit) gene. The variant was confirmed in the proband with Sanger sequencing. Because the clinical phenotype associated with SCN8A mutations has previously been identified only in a few patients with or without epileptic seizures, these data together with our results suggest that mutations in SCN8A can lead to early infantile epileptic encephalopathy with a broad phenotypic spectrum. Additional investigations will be worthwhile to determine the prevalence and contribution of SCN8A mutations to epileptic encephalopathies. © The Author(s) 2013.

  3. Imaging of congenital anomalies and variations of the caudal spine and back in neonates and small infants

    Energy Technology Data Exchange (ETDEWEB)

    Schenk, Jens-Peter [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany)]. E-mail: Jens-Peter_Schenk@med.uni-heidelberg.de; Herweh, Christian [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Department of Neuroradiology, University of Heidelberg (Germany); Guenther, Patrick [Department of Pediatric Surgery, University of Heidelberg (Germany); Rohrschneider, Wiltrud [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Zieger, Birgit [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Troeger, Jochen [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany)

    2006-04-15

    Spinal dysraphisms are categorized in open dysraphisms with prominent abnormal nervous tissue above the skinlevel and closed dysraphisms with a skin covered malformation. Especially the occult dysraphisms are marked by suspect skin masses and other dermal anomalies. The purpose of this review is to demonstrate the indications and spectrum of spinal sonography in neonates and infants. In comparison typical dysraphisms are demonstrated in sonography and MR Imaging. We demonstrate the value of ultrasound in comparison to MRI and describe a useful handling of the methods in neonates and infants. The differentiation between the potentially dangerous dimples associated with dermal sinus, which can lead to meningitis and the harmless coccygeal dimple in the cranial gluteal cleft is presented. An inconspicious examination does not need a further imaging, but suspicious results of sonography need an MR imaging dependent of clinical conditions. Neurologically conspicious infants need MR imaging completed by sonography. Great advantages of sonography are the real time examination and the potential to show oscillations of the conus, filum and cauda equina in M-mode-imaging.

  4. Effect of maternal diabetes on the embryo, fetus, and children: congenital anomalies, genetic and epigenetic changes and developmental outcomes.

    Science.gov (United States)

    Ornoy, Asher; Reece, E Albert; Pavlinkova, Gabriela; Kappen, Claudia; Miller, Richard Kermit

    2015-03-01

    Pregestational and gestational diabetes mellitus (PGDM; GDM) are significant health concerns because they are associated with an increased rate of malformations and maternal health complications. We reviewed the data that help us to understand the effects of diabetes in pregnancy. Diabetic embryopathy can affect any developing organ system, but cardiovascular and neural tube defects are among the most frequent anomalies. Other complications include preeclampsia, preterm delivery, fetal growth abnormalities, and perinatal mortality. Neurodevelopmental studies on offspring of mothers with diabetes demonstrated increased rate of Gross and Fine motor abnormalities, of Attention Deficit Hyperactivity Disorder, learning difficulties, and possibly also Autism Spectrum Disorder. The mechanisms underlying the effects of maternal hyperglycemia on the developing fetus may involve increased oxidative stress, hypoxia, apoptosis, and epigenetic changes. Evidence for epigenetic changes are the following: not all progeny are affected and not to the same extent; maternal diet may influence pregnancy outcomes; and maternal diabetes alters embryonic transcriptional profiles and increases the variation between transcriptomic profiles as a result of altered gene regulation. Research in animal models has revealed that maternal hyperglycemia is a teratogen, and has helped uncover potential therapeutic targets which, when blocked, can mitigate or ameliorate the negative effects of diabetes on the developing fetus. Tight metabolic control, surveillance, and labor management remain the cornerstone of care for pregnant women with diabetes, but advances in the field indicate that new treatments to protect the mother and baby are not far from becoming clinical realities. © 2015 Wiley Periodicals, Inc.

  5. Congenital aplasia of the semicircular canals.

    Science.gov (United States)

    Satar, Bulent; Mukherji, Suresh K; Telian, Steven A

    2003-05-01

    To describe the underrecognized inner ear malformation characterized by complete aplasia of the labyrinthine semicircular canals associated with a relatively well-formed cochlea, to investigate its relationship with known syndromic forms of hearing loss, and to hypothesize regarding the potential embryopathogenesis of this anomaly. A retrospective case review consisting of cases of sensorineural hearing loss with radiographic evidence demonstrating agenesis of the semicircular canals associated with a cochlea that was either morphologically normal or sufficiently well developed to accommodate the full insertion of a cochlear implant electrode. Cases were identified by computerized tomography findings that identified the anomaly under study. Departments of otolaryngology and radiology in a tertiary referral center, with a large cochlear implant program serving over 800 patients, more than half of whom are children. Fifteen patients with the anomaly under study were identified. Each patient underwent a complete otologic examination, audiometric studies, and high resolution computerized tomography of the temporal bone in axial and coronal planes. The bony morphology of the cochlea, round and oval windows, vestibule, semicircular canals, and vestibular aqueduct, and the course of the facial nerve were examined. Auditory findings and otologic treatment are presented. Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (Coloboma of the eye, congenital Heart defects, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or deafness), 1 met criteria for Noonan's syndrome, and one had features of both these syndromes. Although the cochlea was present in all cases, the cochlear morphology was usually abnormal in the CHARGE association patients. Of the 20 ears in the CHARGE subjects, only 3 ears (15%) were seen to have completely normal development of the cochlea in both the basal and upper turns. The others

  6. Middle ear implants

    Directory of Open Access Journals (Sweden)

    K S Gangadhara Somayaji

    2013-01-01

    Full Text Available Hearing loss is becoming more common in the society living in cities with lot of background noise around, and frequent use of gadgets like mobile phones, MP3s, and IPods are adding to the problem. The loss may involve the conductive or perceptive pathway. Majority of the patients with conductive hearing loss will revert back to normal hearing levels with medical and/or surgical treatment. However, in sensorineural hearing loss, many factors are involved in the management. Though traditionally hearing aids in various forms are the most commonly used modality in managing these patients, there are some drawbacks associated with them. Implantable middle ear amplifiers represent the most recent breakthrough in the management of hearing loss. Middle ear implants are surgically implanted electronic devices that aim to correct hearing loss by stimulating the ossicular chain or middle ear. Of late, they are also being used in the management of congenital conductive hearing loss and certain cases of chronic otitis media with residual hearing loss. The article aims to provide general information about the technology, indications and contraindications, selection of candidates, available systems, and advantages of middle ear implants. (MEI

  7. Computed tomography and magnetic resonance imaging of pathologic conditions of the middle ear

    International Nuclear Information System (INIS)

    Maroldi, R.; Farina, D.; Palvarini, L.; Marconi, A.; Gadola, E.; Menni, K.; Battaglia, G.

    2001-01-01

    Computed tomography (CT) is an excellent technique for demonstrating even small abnormalities of the thin and complex bony structures of the middle ear. For this reason, it is the modality of choice in the study of conductive hearing loss (CHL). However, not every patient complaining of CHL requires a CT study. In fact, established indications encompass complex conditions, such as the complications of acute and chronic otomastoiditis, the postoperative ear in chronic otomastoiditis or in the localization of prosthetic devices, and the assessment of congenital or vascular anomalies. Particularly, the precise extent of bone erosion associated with cholesteatoma is correctly demonstrated by high resolution CT. Conversely, although fistulization through the tegmen tympani or the posterior wall of temporal bone is usually detectable by CT, the actual involvement of meninges and veins are better assessed by magnetic resonance (MR). MR is also indicated when complicated inflammatory lesions are suspected to extend into the inner ear or towards the sigmoid sinus or jugular vein. Neoplasms arising from or extending into the middle ear require the use of both techniques as their combined data provide essential information. Most important data for surgical planning concern the destruction of thin bony structures and the relationships of the lesion with the dura and surrounding vessels. DSA and interventional vascular techniques maintain an essential role in the presurgical work-up and embolization of paragangliomas extended into the middle ear

  8. Congenital anomalies of the inferior vena cava: importance of multiplanar imaging methods: an iconographic essay; Anomalias congenitas da veia cava inferior: valor dos metodos multiplanares em seu diagnostico - ensaio iconografico

    Energy Technology Data Exchange (ETDEWEB)

    Viana, Sergio Lopes; Mendonca, Jose Luiz Furtado de; Freitas, Flavia Mendes Oliveira [Clinica Radiologica Vila Rica, Brasilia, DF (Brazil)] (and others). E-mail: radiolog@uol.com.br

    2006-10-15

    The inferior vena cava is the result of a complex embryologic process which takes place between 6 and 8 weeks of intra-uterine life. Several variations can occur during this process, and a defective embryogenesis of this vessel may lead to the development of anatomic variants. Although many of these variants are asymptomatic, the radiologist should be aware of them and of the potential medico-legal issues involved, especially in cases in which abdominal surgery or hemodynamic procedures are contemplated. In this paper, the major congenital anomalies involving the inferior vena cava are reviewed under the form of a pictorial essay, highlighting the role of the multiplanar imaging methods (volumetric computed tomography and magnetic resonance imaging) in their diagnosis. Keywords: Congenital variations; Inferior vena cava; Renal veins; Computed tomography; Magnetic resonance imaging. author)

  9. The experience of mutation rate quantitative evaluation in connection with environmental pollution (based on studies of congenital anomalies in human populations).

    Science.gov (United States)

    Antipenko YeN; Kogut, N N

    1993-10-01

    For 3 years genetic monitoring of congenital anomalies (CA) has been carried out in three Ukrainian towns essentially different in the level of air pollution: the most polluted, Mariupol (M.); medium polluted, Zaporozhye (Z.); and relatively clean, Simpheropol (S.). In this work we present the results of this study. Eighteen CAs being used in the International Clearinghouse program were registered during the first year of life. For each case of CA an individual questionnaire was filled in. It included practically all known causes of malformations. Similar questionnaires were filled in for cases of normal birth outcome. The estimation of newborns of control groups was made according to a score of 9-10 on the Apgar scale. The questionnaires were completed by physicians in all maternity hospitals and children's clinics and based on the information obtained from mothers. Multiple malformations, dominant and X-linked CA in M. were 2.6-3.1 times more frequent than in S. The frequency of new mutations was 0.45-0.95 and 0.17-0.47 per 10(3) births respectively. No differences in multifactorial and recessive CA were noted. The mathematical method (so-called statusmetrical analysis) was used to indirectly determine the part of CAs of unknown etiology (probably of mutation origin) in the total number of CAs. Their quota in Z. and M. was 1.2-1.5 times more than in S. The advantage of statusmetrical analysis lies in the absence of any restrictions connected with a large number of parameters which describe the object's status. It makes it possible to analyze tens, even hundreds of factors (along with the increased number of parameters the reliability of the conclusions increases) and range them in accordance with their validity. Genetic consequences of chemical pollution were estimated in biological equivalents Röntgen (BER). In M. they were equal to the effect of irradiation at doses of 180-300 BER (230 BER, central estimate) over 30 years. In the polluted towns (M. and Z.) the

  10. Ear Problems

    Science.gov (United States)

    ... Infants and Children Chest Pain, Acute Chest Pain, Chronic Cold and Flu Cough Diarrhea Ear Problems Elimination Problems Elimination Problems in Infants and Children Eye Problems Facial Swelling Feeding Problems in Infants ...

  11. Ear examination

    Science.gov (United States)

    ... to the side, or the child's head may rest against an adult's chest. Older children and adults may sit with the head tilted toward the shoulder opposite the ear being examined. The provider will ...

  12. Congenital anomalies of the esophagus

    OpenAIRE

    Clóvis Duarte Costa

    2007-01-01

    A embriogênese comum do esôfago e da traquéia permite explicar a maioria das malformações congênitas destes dois órgãos. As anomalias congênitas do esôfago, assim como as do trato gastrointestinal superior, podem se manifestar durante o período neonatal, ou mais tarde e, até mesmo, na idade adulta. As anomalias congênitas que afetam o esôfago são: atresia, fístulas, membranas, estenose, duplicações e anéis vasculares.

  13. Our Experience of Treating Wide Spectrum of External Ear Canal Atresia of Different Etiologies in Pediatric Patients.

    Science.gov (United States)

    Bhavana, Kranti

    2017-09-01

    External auditory canal atresia (EACA) is a common otologic condition. Etiology can vary from congenital to acquired causes. It causes considerable difficulty to the patient. Bilateral ear canal atresia in children can lead to speech delays due to hearing impairment caused by this condition. Though easily diagnosed it is one of the most difficult conditions to treat. Acquired conditions can affect any age group. Restenosis following treatment is very common. This article focuses on the treatment of EACA due to different etiologies and emphasizes on special points of surgical treatment and follow up. Five cases of external auditory canal atresia was treated between 2014 and 2016. Two of them were congenital cases and three were acquired. One congenital atresia patient had pinna abnormalities in the form of one sided anotia and other side microtia. Another patient of congenital ear canal atresia had congenital cholesteatoma. Acquired atresia was due to osteoma, external trauma and surgical trauma following a condylectomy surgery. All the patients were treated surgically. A wide meatoplasty with split thickness skin graft lining the canal/cavity was done to avoid restenosis. Merocel wicks were used in all cases. Removal of localized granulations on follow up helped keep the canal patent especially in congenital EACA. All patients had significant hearing improvement following surgery. Child with bilateral atresia and pinna anomaly has now achieved normal hearing and speech milestones. She does not use any hearing aid. None of the patients developed restenosis of their reconstructed ear canal. One of the patient developed granulations around the meatoplasty edges which was cauterized using silver nitrate. External auditory canal atresia surgery is a difficult surgery keeping in view the distorted anatomy and the propensity of restenosis of the newly constructed ear canal. Hearing restoration in the operated ear is all the more challenging. Meticulous planning with close

  14. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

    Science.gov (United States)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K

    2015-12-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls. © 2015 Wiley Periodicals, Inc.

  15. Congenital abnormality of the inner ear and internal auditory canal in a patient with deep sensorineural hearing loss: A case report

    International Nuclear Information System (INIS)

    Rivera, Diego; Saab, Said; Cordoba, Claudia; Montes, Guillermo; Barreto, Tatiana

    2010-01-01

    CT and MRI are complementary studies that have proven to be the best radiological tools in screening of children with unilateral or bilateral sensorineural hearing loss. Only about a 20% of the patients with congenital sensor neural hearing loss have manifestations in images. Due to the fact that most of these manifestations initiate in the bone, the CT is the first line of image study. MRI is indicated in the evaluation of suspected agenesis, neuropathy, aplasia or hypoplasia of the vestibulocochlear nerve, often associated with this type of hearing loss. We present a case of a 6 year old patient with deep bilateral sensor neural hearing loss, with radiological studies to determine a potential candidate for a cochlear or auditory brainstem implant as hearing rehabilitation.

  16. CT of the ear in Pendred syndrome.

    Science.gov (United States)

    Goldfeld, Moshe; Glaser, Benjamin; Nassir, Elias; Gomori, John Moshe; Hazani, Elitsur; Bishara, Nassir

    2005-05-01

    To prospectively determine the structural anomalies of the inner ear by using thin-section computed tomography (CT) in an extended family with Pendred syndrome. Ethics committee approved the study, and informed consent was obtained from every patient or from parents of patients under legal age. Twelve patients (three females and nine males aged 7-47 years) with Pendred syndrome (all from the same ethnic isolate and with the same mutation in the PDS gene) were evaluated for inner-ear malformation at thin-section CT. Both ears were evaluated. Presence or absence of interscalar septum between upper and middle turns of the cochlea was evaluated, and vestibule and vestibular aqueduct were examined for enlargement. Modiolus was determined to be present or absent (modiolar deficiency). CT scans were evaluated in consensus by two radiologists (M.G., J.M.G.). All patients had inner ear malformation on both sides. Modiolus was absent and vestibule was enlarged on both sides in all 12 patients. Interscalar septum was absent in 18 (75%) of 24 ears. In eight patients, interscalar septum was absent in both ears, whereas in two patients, it was absent on only one side. Aqueduct was enlarged in 20 (80%) of 24 ears. In nine patients, both ears had enlarged aqueducts, while in two patients, only one side was abnormal. Inner ear malformation is an invariable finding in Pendred syndrome. Modiolus deficiency and vestibular enlargement were the most consistent anomalies in this population with Pendred syndrome. (c) RSNA, 2005.

  17. Echocardiography in Ebstein's anomaly

    NARCIS (Netherlands)

    W.J. Gussenhoven (Wilhelmina Johanna)

    1984-01-01

    textabstractIn this thesis the value of echocardiography is evaluated for the diagnosis of Ebstein's anomaly of the tricuspid valve. This congenital heart defect, first described in 1866 by Wilhelm Ebstein, is characterized by an apical displacement of the septal and inferior tricuspid valve

  18. Dealing with Ebstein's anomaly

    NARCIS (Netherlands)

    Geerdink, L.M.; Kapusta, L.

    2014-01-01

    Ebstein's anomaly is a complex congenital disorder of the tricuspid valve. Presentation in neonatal life and (early) childhood is common. Disease severity and clinical features vary widely and require a patient-tailored treatment. In this review, we describe the natural history of children and

  19. Mozart ear: diagnosis, treatment, and literature review.

    Science.gov (United States)

    Yamashita, Ken; Yotsuyanagi, Takatoshi; Saito, Tamotsu; Isogai, Noritaka; Mori, Hiromasa; Itani, Yoshihito

    2011-11-01

    Mozart ear is a congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. It is said to be uncommon, and because no one has yet fully described neither the disease nor the treatment, the concept of Mozart ear has not been unified. This report describes a case of a 13-year-old girl presented with an unusual congenital deformity which showed the features of Mozart ear. It is an extremely rare deformity that only about 4 clinical cases have been reported in medical literature thereby a treatment method has not been fully discussed. For surgical correction of our cases, we excised deformed conchal cartilage, turned it over, regrafted, and maintained a cosmetically positive result. We also reviewed and described the origin, current concept, and treatment method of Mozart ear.

  20. Ear Infections

    Science.gov (United States)

    ... can cause your child’s eardrum to rupture or pop, leaving a hole in the ear. The initial pop hurts, but actually relieves the pressure and pain. ... turns up the volume of the TV or music, is not responding to softer sounds or is ...

  1. Pregnancy outcome and Ebstein's anomaly.

    OpenAIRE

    Donnelly, J E; Brown, J M; Radford, D J

    1991-01-01

    BACKGROUND--Ebstein's anomaly is an uncommon congenital cardiac abnormality that may be associated with cyanosis and arrhythmias. For those female patients with the anomaly who survive to adult life there is little information available about pregnancy, maternal complications, and fetal outcome. This study was designed to address this issue so that these patients can receive appropriate advice and management. METHODS AND RESULTS--Forty two pregnancies in 12 women with Ebstein's anomaly were s...

  2. Cosmetic ear surgery

    Science.gov (United States)

    Otoplasty; Ear pinning; Ear surgery - cosmetic; Ear reshaping; Pinnaplasty ... Cosmetic ear surgery may be done in the surgeon's office, an outpatient clinic, or a hospital. It can be performed under ...

  3. Estudo da morbidade e da mortalidade perinatal em maternidades: III - Anomalias congênitas em nascidos vivos A study of perinatal morbidity and mortality in maternity hospitals: III - Congenital anomalies in live briths

    Directory of Open Access Journals (Sweden)

    José Maria Pacheco de Souza

    1987-02-01

    Full Text Available Realizou-se estudo das anomalias congênitas encontradas em recém-nascidos vivos, em nove maternidades, durante o ano de 1981-1982. O material é parte de uma pesquisa desenvolvida em sete maternidade do Estado de São Paulo, uma do Rio de Janeiro e uma de Florianópolis, Santa Catarina (Brasil, no período de agosto de 1981 a julho de 1982, quando foram coletados dados sobre todos os nascimentos ocorridos nesses nove serviços. As anomalias congênitas foram definidas como as descritas no XIV.° capítulo da Classificação Internacional de Doenças - 1975, 9ª Revisão, tendo sido utilizada essa classificação para codificá-las. Na análise estatística foram utilizados o X² (com um grau de liberdade, o teste de inclinação para proporções ("Trend test" e a técnica de Berkson para a verificação da hipótese de aderência à distribuição de Poisson. Em 12.782 recém-nascidos vivos, 286 (2,24% apresentavam algum tipo de anomalia congênita, tendo havido 26 (0,20% crianças com duas anomalias, 9 (0,07% com três e duas (0,02 apresentando quatro tipos de malformações congênitas. As deformidades osteomusculares congênitas (código 754 da CID foram as mais freqüentes (19%;segue-se as outras anomalias congênitas do coração (746 com uma freqüência de 14,1%. Ao se analisar a prevalência dessas malformações pela idade da mãe nota-se que há um aumento da prevalência à medida que a idade avança, apenas para Sindrome de Down (758.Congenital anomalies in live births in nine maternities in the period 1981-1982 were studied. This was one aspect of a research project carried out in seven maternities in the State of S.Paulo, one in Rio de Janeiro and another in Florianópolis (Brazil, from which data on all births occurring between August 1981 and July 1982 were obtained. Congenital anomalies were classified according to the XIVth chapter of the CID-1975 - 9thRevision. Chi square for associations and for trend and Berkson

  4. The role of religion in decision-making on antenatal screening of congenital anomalies: A qualitative study amongst Muslim Turkish origin immigrants

    NARCIS (Netherlands)

    Gitsels, J.T.; Manniën, J.; Ghaly, M.M.; Verhoeven, P.S.; Hutton, E.K.; Reinders, J.S.

    2014-01-01

    Objective: to explore what role religious beliefs of pregnant Muslim women play in their decision-making on antenatal screening, particularly regarding congenital abnormalities and termination, and whether their interpretations of the religious doctrines correspond to the main sources of Islam.

  5. Exposure to misoprostol and hormones during pregnancy and risk of congenital anomalies Exposição ao misoprostol e hormônios durante a gravidez e risco de anomalia congênita

    Directory of Open Access Journals (Sweden)

    Tatiane da Silva Dal Pizzol

    2008-06-01

    Full Text Available This study evaluated the association between use of misoprostol and other drugs to induce menstruation, and congenital anomalies. A sample of 4,856 pregnant women 20 years and older were enrolled consecutively in prenatal services in the Unified National Health System, in six Brazilian State capitals. Data on socio-demographics and use of medicines were obtained using an interview from the 21st to 28th week of pregnancy. Other data, including information on delivery and diagnosis of congenital anomalies by the attending neonatal physician were obtained from patient charts. Potential confounders were adjusted by logistic regression. Use of drugs to induce menstruation was reported by 707 women (14.6%, of whom 120 (17% reported use of misoprostol. After adjusting for the study center, a positive association was observed between misoprostol and congenital anomalies (OR = 2.64; 95%CI: 1.03-6.75; a positive association was also observed for sex hormones (OR = 2.24; 95%CI: 1.06-4.74. The results suggest that the use of misoprostol or sex hormones during pregnancy increases the risk of congenital anomalies.Este estudo avalia a associação do uso do misoprostol e de outros produtos utilizados para induzir a menstruação com anomalia congênita. Foram arroladas consecutivamente 4.856 mulheres com vinte anos de idade ou mais, procedentes de serviços de pré-natal do Sistema Único de Saúde em seis capitais brasileiras. Dados sócio-demográficos e o uso de medicamentos foram obtidos por meio de entrevista, entre a 21ª e a 28ª semanas de gestação. Outros dados, incluindo informações sobre o parto e o diagnóstico de anomalia congênita, realizado pelo médico que assistiu o recém-nascido, foram obtidos no prontuário. Potenciais confundidores foram ajustados por meio de regressão logística. O uso de produtos para induzir a menstruação foi relatado por 707 gestantes (14,6%, das quais 120 (17% referiram-se ao misoprostol. Após ajustamento

  6. Congenital malformations in paediatric and neurosurgical practices ...

    African Journals Online (AJOL)

    Methodology: We retrospectively studied all children presenting over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria. Clinical data abstracted and analyzed include age, type of congenital anomaly, management, ...

  7. Dental Anomalies: An Update

    Directory of Open Access Journals (Sweden)

    Fatemeh Jahanimoghadam

    2016-01-01

    Full Text Available Dental anomalies are usual congenital malformation that can happen either as isolated findings or as a part of a syndrome. Developmental anomalies influencing the morphology exists in both deciduous and permanent dentition and shows different forms such as gemination, fusion, concrescence, dilaceration, dens evaginatus (DE, enamel pearls, taurodontism or peg-shaped laterals. All These anomalies have clinical significance concerning aesthetics, malocclusion and more necessary preparing of the development of dental decays and oral diseases. Through a search in PubMed, Google, Scopus and Medline, a total of eighty original research papers during 1928-2016 were found with the keywords such as dental anomaly, syndrome, tooth and hypodontia. One hundred review titles were identified, eighty reviews were retrieved that were finally included as being relevant and of sufficient quality. In this review, dental anomalies including gemination, fusion, concrescence, dilaceration, dens invaginatus, DE, taurodontism, enamel pearls, fluorosis, peg-shaped laterals, dentinal dysplasia, regional odontodysplasia and hypodontia are discussed. Diagnosing dental abnormality needs a thorough evaluation of the patient, involving a medical, dental, familial and clinical history. Clinical examination and radiographic evaluation and in some of the cases, specific laboratory tests are also needed. Developmental dental anomalies require careful examination and treatment planning. Where one anomaly is present, clinicians should suspect that other anomalies may also be present. Moreover, careful clinical and radiographical examination is required. Furthermore, more complex cases need multidisciplinary planning and treatment.

  8. Congenital coronary artery anomalies: a bridge from embryology to anatomy and pathophysiology—a position statement of the development, anatomy, and pathology ESC Working Group

    Czech Academy of Sciences Publication Activity Database

    Pérez-Pomares, J. M.; de la Pompa, J. L.; Franco, D.; Henderson, D.; Ho, S. Y.; Houyel, L.; Kelly, R. G.; Sedmera, David; Sheppard, M.; Sperling, S.; Thiene, G.; van den Hoff, M.; Basso, C.

    2016-01-01

    Roč. 109, č. 2 (2016), s. 204-216 ISSN 0008-6363 R&D Projects: GA ČR(CZ) GAP302/11/1308; GA ČR(CZ) GA13-12412S Institutional support: RVO:67985823 Keywords : coronary arteries * embryology * congenital heart disease * pathology * anatomy Subject RIV: FA - Cardiovascular Disease s incl. Cardiotharic Surgery Impact factor: 5.878, year: 2016

  9. Congenital Anomalies Associated with Trisomy 18 or Trisomy 13 : A Registry-Based Study in 16 European Countries, 2000-2011

    NARCIS (Netherlands)

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K.

    2015-01-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and

  10. Pattern of Congenital Musculoskeletal Abnormalities in South West ...

    African Journals Online (AJOL)

    Eighty one were males while 42 were females with a M:F= 2:1 Congenital talipes equinovarus(CTEV) deformity was the most common congenital musculoskeletal anomaly in 64(52.0%) patients. Others were Polydactyly 16 (13.0%) and syndactyly 11(8.9%). Other common congenital orthopaedic anomalies encountered ...

  11. Congenital anterior penile isolated urethrocutaneous fistula: A case ...

    African Journals Online (AJOL)

    Urethrocutaneous fistula is a common complication after hypospadias repair. If congenital, it is usually associated with other genitourinary and gastrointestinal anomalies. Isolated congenital urethral fistula is a very rare anomaly. We present a 4-year old circumcised boy with this unusual anomaly. Etiology, embryology, and ...

  12. AN UNUSUAL CASE OF CONGENITAL ANOMALY OF THE HEART. UN CASO POCO COMÚN DE ANOMALÍA CONGÉNITA DEL CORAZÓN

    Directory of Open Access Journals (Sweden)

    Chalapathi A.V.Rao

    2011-03-01

    Full Text Available The increasing use of invasive diagnostic and interventional procedures in cardiovascular diseases makes it important that the type and frequency of vascular variations are well documented and understood. Congenital heart defects are among the most common of all birth defects. They can be thought of being common or complex lesions. In most cases of complex congenital heart defects surgical intervention is required in order to sustain life. Surgeons and Physicians need to be informed of the various forms of congenital heart diseases in order to be able to manage such conditions. We report an unusual case found on autopsy of a 28 days old male East Indian neonate, who had single atrial and single ventricular chambers of the heart, which were connected by common atrio-ventricular orifice. This congenital heart defect has to be documented. Such cases are usually incompatible with life.La creciente utilización de diagnósticos invasivos y procedimientos de intervención en enfermedades cardiovasculares han enfatizado la importancia de entender y documentar mejor el tipo y la frecuencia de las variaciones vasculares. Los defectos del corazón se encuentran entre las anomalías congénitas más comunes. Estas pueden ser simples o complejas. En la mayoría de las anomalías congénitas del corazón se requiere intervención quirúrgica para garantizar la vida. Los médicos y cirujanos deben ser educados sobre las distintas formas de enfermedades congénitas del corazón para facilitarles su manejo. En este artículo reportamos un caso de un recién nacido de 28 días de raza india al cual se le detectó, durante la autopsia, una anomalía muy poco frecuente. Esta consistía en la presencia de una sola aurícula y un sólo ventrículo comunicados por un sólo orificio aurículo-ventricular. Casos como este son incom-patibles con la vida.

  13. Ear infection - chronic

    Science.gov (United States)

    Middle ear infection - chronic; Otitis media - chronic; Chronic otitis media; Chronic ear infection ... blocked, fluid can build up. When this happens, infection can occur. A chronic ear infection develops when ...

  14. Ear infection - acute

    Science.gov (United States)

    ... Family history of ear infections Not being breastfed Pacifier use Recent ear infection Recent illness of any ... lead to fewer ear infections. DO NOT use pacifiers. Breastfeed -- this makes a child much less prone ...

  15. TOTAL EAR RECONSTRUCTION WITH MONOBLOCK CARTILAGE AND TEMPOROPARIETAL FASCIA

    Directory of Open Access Journals (Sweden)

    Rajendra Prasad

    2015-09-01

    Full Text Available BACKGROUND : Microtia is a congenital ear deformity with incidence of 1:6000. Anotia can be of traumatic origin also. It is one of the greatest challenges to the plastic surgeon to the reconstruct the ear from autologus material . Various developments have occurred in the ear reconstruction from the era of Tanzer. It can be done in a single stage or multiple stages. Single stage ear reconstruction require technical precision, avoids multiple admission of the patient. MATERIAL AND M ETHOD : Between 2007 to 2013 six cases of total ear reconstruction was done in two stage method using autologus coastal cartilage in the department of M.K.C.G medical college by a single surgeon. In the first stage lobule rotation, fabrication of the cartil aginous framework and its implantation were performed. In the second stage elevation of the auricle and formation of tragus was done. All of them underwent stage 1 procedure among them 2 had not turned up for staged 2 procedure. RESULT S: 4 were females and 2 were male. 4 had congenital microtia and two were traumatic amputation of the ear. All had unilateral microtia. The follow up was done for up to 1 year. CONCLUSION: One patient had lost follow up.5 patient had unacceptable ear. Though it is impossible t o reconstruct ear that appear exactly the same as opposite ear , the new ears which were made of correct size and in normal position

  16. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    SUMMARY. A l0-year-old girl with facial anomalies, mental retardation, peripheral lymphoedema, convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new congenital ...

  17. Detection of ossicular chain abnormalities using CT imaging. Comparison of axial and virtual middle ear endoscopic imaging

    Energy Technology Data Exchange (ETDEWEB)

    Sakata, Motomichi; Kamagata, Masaki; Harada, Kuniaki; Shirase, Ryuji; Oomoto, Hidechika [Sapporo Medical Univ. (Japan). Hospital; Himi, Tetsuo

    2000-06-01

    The purpose of this study was to evaluate the usefulness of axial and three-dimensional imaging (virtual endoscopy) with helical CT for the detection of ossicular chain abnormalities. In 15 patients who had traumatic ossicular dislocation, disruption, and congenital ossicular defect and anomaly, axial helical CT scanning of the temporal bone was performed with GE HSA. Axial and three-dimensional imaging was carried out in normal ears (15 ears) and abnormal ears (10 ears), for the detection of ossicular chain abnormalities. Diagnostic accuracy was evaluated by receiver-operating-characteristic (ROC) curve analysis using a continuous reporting scale. Furthermore, ROC testing was done to determine the sensitivity, specificity, and accuracy of the detection of ossicular chain abnormalities. Diagnostic accuracy in the detection of ossicular chain abnormalities with three-dimensional imaging (A{sub z}=0.967, SD=0.022) was not significantly better than that of axial imaging (A{sub z}=0.930, SD=0.046); however, the interobserver standard deviation was better for three-dimensional imaging. Three-dimensional imaging resulted in an increase in true positive cases and a decrease in false negatives. Three-dimensional imaging also showed higher sensitivity and accuracy. In the evaluation of ossicular chain abnormalities, three-dimensional imaging (virtual endoscopy) is useful and provides additional information. Three-dimensional imaging may have an important role in diagnostic procedures and/or preoperative evaluation in otology. (author)

  18. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  19. Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

    Directory of Open Access Journals (Sweden)

    Fernando Cristo

    2017-12-01

    Full Text Available A human iPSC line was generated from exfoliated renal epithelial (ERE cells of a patient affected with Congenital Heart Disease (CHD and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.

  20. Diagnosis of ossicular chain in the middle ear by high-resolution CT

    Energy Technology Data Exchange (ETDEWEB)

    Fuse, Takeo (Hanamaki-Kosei Hospital, Iwate (Japan)); Aoyagi, Masaru; Koike, Yoshio; Sugai, Yukio

    1992-02-01

    This study was conducted to assess the usefulness and limitation of high-resolution CT for evaluating the condition of ossicular chain in the middle ear. Preoperative CT findings of the ossicular chain were compared with the operative findings of ossicles in 26 patients with chronic otitis media or congenital ossicular anomaly who underwent tympanoplasty. Total defect of head of the malleus, body of the incus and long process of the incus were completely detected by high-resolution CT. But the reliability in detecting the defect of handle of the malleus and superstructure of the stapes were 33.3% and 60%, respectively. Defect of the I-S joint (1 case) and partial defect of stapes crus (2 cases) could not be diagnosed correctly in the preoperative estimation. Although these findings demonstrate the limitations of high-resolution CT in the diagnosis of ossicular chain, it will be diminished by the advanced space resolution of CT in the future. (author).

  1. Play it by Ear

    DEFF Research Database (Denmark)

    Kammersgaard, Nikolaj Peter Iversen; Kvist, Søren Helstrup; Thaysen, Jesper

    2014-01-01

    The first antenna for ear-to-ear communication with a standard Bluetooth chip has the potential to improve hearing aid technology.......The first antenna for ear-to-ear communication with a standard Bluetooth chip has the potential to improve hearing aid technology....

  2. Maternal age-specific risk of non-chromosomal anomalies

    NARCIS (Netherlands)

    Loane, M.; Dolk, H.; Morris, Joan K.

    To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004.

  3. [Central nervous system abnormalities related to congenital fibrosis of extraocular muscles].

    Science.gov (United States)

    Moguel-Ancheita, Silvia; Rodríguez-Garcidueñas, Wendolyn

    2009-01-01

    We undertook this study to describe central nervous system (CNS) abnormalities associated with congenital cranial dysinnervation disorders (CCDD). This was a retrospective, observational, transversal and descriptive study including patients with congenital fibrotic strabismus. We analyzed clinical files of patients from 2001 to 2006. Neurological lesions were reported. Restrictive strabismus was demonstrated in all cases. Sixteen patients were included: nine males and seven females. Different neurological lesions were reported: corpus callosum anomalies, severe cortipathy, epilepsy, cavum vergae, nystagmus, occipital subarachnoid cyst, and hydrocephalus. Mental retardation was reported in 56% of patients. Different malformations were reported: genital malformations, trigonocephalus, camptodactyly, mild facial hypoplasia, low set ears, and agenesis of left ear. Blepharoptosis was present in 81% of patients. The most frequent form of strabismus was exotropia (56%), hypotropia in 37.5%, hypertropia 18.7%, "A" pattern 18.7%, and esotropia in 6.25%. Affection was cranial nerve III, 93.75%; cranial nerve VI, 6.25%; cranial nerve VII, 6.25%; and lesion to cranial nerve II in eight cases (50%). We have suggested that failure in early stages of embryology of the CNS can lead to the development of paralytic strabismus and generate secondary fibrotic changes, not only in muscle structures but also in other orbital tissues. That is the reason why we have used the term "congenital fibrotic strabismus" to report cases included in CCDD. We have demonstrated the strong association of mental retardation and neurological alterations. Multidisciplinary rehabilitation is relevant for these patients.

  4. Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

    International Nuclear Information System (INIS)

    Abdel-Gawad, I.I.; Mohammad, M.H.M.

    2000-01-01

    Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9 th , 12 th and 15 th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12 th and 15 th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

  5. Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.

    Science.gov (United States)

    Jaiswal, Sushil Kumar; Kumar, Ashok; Ali, Akhtar; Rai, Amit Kumar

    2015-03-15

    The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400 kb in size). Moreover, 255 kbp intermittent deletion of chromosome 2q13 involving RGPD5, RGPD6, LIMS3, and LIMS3-LOC440895 was also observed. Correlating microarray data with the mosaic karyotype, the marker chromosome was identified as mosaic isochromosome 18p and was found to be 32,600 kbp in size. Baby resembled clinical characteristics of trisomy chromosome 18p, isochromosome 18p and trisomy chromosome 18. The present study suggested that deletion of evolutionarily conserved developmental genes (RGPD5, RGPD and LIMS3) in the 2q13 region might have contributed to more severity in phenotype as compared to so far such reported cases of 18p trisomy's, as these are involved in nuclear-cytoplasm trafficking, signaling for tissue patterning and differentiation. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: Outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome

    Science.gov (United States)

    Silversides, Candice K; Beauchesne, Luc; Bradley, Timothy; Connelly, Michael; Niwa, Koichiro; Mulder, Barbara; Webb, Gary; Colman, Jack; Therrien, Judith

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the management of adults with CHD, there have been significant advances in the field of adult CHD. Therefore, new clinical guidelines have been written by Canadian adult CHD physicians in collaboration with an international panel of experts in the field. Part II of the guidelines includes recommendations for the care of patients with left ventricular outflow tract obstruction and bicuspid aortic valve disease, coarctation of the aorta, right ventricular outflow tract obstruction, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome. Topics addressed include genetics, clinical outcomes, recommended diagnostic workup, surgical and interventional options, treatment of arrhythmias, assessment of pregnancy risk and follow-up requirements. The complete document consists of four manuscripts that are published online in the present issue of The Canadian Journal of Cardiology. The complete document and references can also be found at www.ccs.ca or www.cachnet.org. PMID:20352138

  7. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

    Science.gov (United States)

    Zweier, Christiane; Albrecht, Beate; Mitulla, Beate; Behrens, Rolf; Beese, Maike; Gillessen-Kaesbach, Gabriele; Rott, Hans-Dieter; Rauch, Anita

    2002-03-15

    Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al. [1998: J Med Genet 35: 617-623] is specific for ZFHX1B mutations. In order to address these open questions we analyzed the ZFHX1B gene in five patients, three of whom had "syndromic Hirschsprung disease" two with and one without the facial phenotype described by Mowat et al. [1998], and two of whom had the distinct facial gestalt without Hirschsprung disease. Analyses of microsatellite markers and newly identified SNPs, and/or FISH with BACs from the ZFHX1B region excluded large deletions in all five patients. Direct sequencing demonstrated truncating ZFHX1B mutations in all four patients with the characteristic facial phenotype, but not in the patient with syndromic Hirschsprung disease without the distinct facial appearance. We demonstrate that there is a specific clinical entity with a recognizable facial gestalt, mental retardation and variable MCAs which we propose be called the "Mowat-Wilson syndrome."

  8. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

    Science.gov (United States)

    Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

    2014-12-01

    Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient. © 2014 Wiley Periodicals, Inc.

  9. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

    The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

  10. Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.

    Science.gov (United States)

    Luo, Hong; Xie, Li; Wang, Shou-Zheng; Chen, Jin-Lan; Huang, Can; Wang, Jian; Yang, Jin-Fu; Zhang, Wei-Zhi; Yang, Yi-Feng; Tan, Zhi-Ping

    2012-11-01

    Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital heart defects, ear anomalies and torticollis. To our knowledge, this is the smallest duplication reported to date. Our findings support the notion that increased copy number of CHD7 may underlie the phenotype of the 8q12 duplication. Our study together with previous studies suggest that the 8q12 duplication could be defined as a novel syndrome. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  11. Associated anomalies in cases with esophageal atresia.

    Science.gov (United States)

    Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

    2017-08-01

    Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA. © 2017 Wiley Periodicals, Inc.

  12. Tracheal quadrifurcation associated with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

    2015-08-15

    Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

  13. Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

    Science.gov (United States)

    Guion-Almeida, Maria Leine; Vendramini-Pittoli, Siulan; Passos-Bueno, Maria Rita Santos; Zechi-Ceide, Roseli Maria

    2009-12-01

    We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance.

  14. Ear Infection and Vaccines

    Science.gov (United States)

    ... an ENT Doctor Near You Ear Infection and Vaccines Ear Infection and Vaccines Patient Health Information News ... or may need reinsertion over time. What about vaccines? A vaccine is a preparation administered to stimulate ...

  15. External Otitis (Swimmer's Ear)

    Science.gov (United States)

    ... Abbreviations Weights & Measures ENGLISH View Professional English Deutsch Japanese Espaniol Find information on medical topics, symptoms, drugs, ... A doctor's examination of the ear canal Sometimes culture of a sample from the ear canal The ...

  16. High Type Imperforate Anus Without Associated Anomalies in a ...

    African Journals Online (AJOL)

    Background: The High type imperforate anus is usually associated with congenital anomaly in the other systems or organs. It is rare to have the above type without accompanying anomalies. Aim: To report a case of high imperforate anus without associated anomalies of the other systems or organs in a Nigerian child who ...

  17. Swimmer's Ear (External Otitis)

    Science.gov (United States)

    ... Body Mind Sexual Health Food & Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying Safe Videos for Educators Search English Español ... español Otitis del nadador (otitis externa) What Is Swimmer's Ear? Swimmer's ear is an infection of the ear canal, the tubular opening that ...

  18. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  19. Congenital Absence of Left Circumflex Artery Detected by Computed Tomography Coronary Angiography: A Case Report

    Directory of Open Access Journals (Sweden)

    Keerati Hongsakul

    2012-01-01

    Full Text Available The congenital absence of the left circumflex artery (LCx is a very rare congenital anomaly of coronary arteries, but it is benign. Currently, the best modality for the diagnosis of coronary anomalies is computed tomography coronary angiography (CTCA. We report a case of congenitally absent LCx with an atypical chest pain.

  20. Operative management of congenital talipes equinovarus deformity ...

    African Journals Online (AJOL)

    Background: Congenital talipes equinovarus is the most common congenital anomaly of the foot and ankle. The prevalence of this condition in our environment is not known due to dearth of medical literature on the subject. The aim of this study was to determine the outcome of our operative management of resistant talipes ...

  1. Severe hydrocephalus associated with congenital varicella syndrome

    OpenAIRE

    Mazzella, Massimo; Arioni, Cesare; Bellini, Carlo; Allegri, Anna Elsa Maria; Savioli, Cesarina; Serra, Giovanni

    2003-01-01

    CONGENITAL VARICELLA SYNDROME refers to the spectrum of fetal anomalies associated with maternal varicella zoster virus (VZV) infection during the first trimester of pregnancy. The syndrome is rare and the risk to the fetus uncertain. We describe an unusual case of congenital varicella syndrome in which hydrocephalus was the main consequence and likely represented VZV reactivation in utero.

  2. Congenital malformations prevalent among Egyptian children and ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    Congenital malformations;. Egyptian children;. Risk factors;. Antenatal care;. Consanguinity;. Birth weight. Abstract According to the World Health Organization the term congenital anomaly includes .... is the most popular country in the Middle East and the third ..... multiple systems, as well as Down syndrome, increased with.

  3. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  4. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  5. Congenital Amputation Involving the Hands and Feet: A Case Report

    African Journals Online (AJOL)

    There were forefoot amputations on both lower limbs. Scars were noticed over the amputation stumps with no associated congenital anomaly. Conclusion: Congenital amputation involving all limbs as an isolated entity is a rare condition; the cause of which is probably as a result of congenital amniotic bands. Keywords: ...

  6. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

    textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD

  7. Protocol de diagnòstic prenatal d'anomalies congènites fetals

    OpenAIRE

    2008-01-01

    Protocols clínics; Anomalies congènites fetals; Diagnòstic prenatal; Clinical protocols; Fetal congenital anomalies; Prenatal diagnosis; Protocolos clínicos; Anomalias congénitas fetales; Diagnóstico prenatal

  8. MRI of central nervous system anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Izawa, M.; Oikawa, A.; Matoba, A.

    1987-05-01

    MRI was very useful in the evaluation of congenital anomalies of central nervous system as well as other nervous system disease with three-dimensional spatial resolution. We had experienced MRI of central nervous system anomalies, demonstrated characterisitic findings in each anomaly. MRI is useful to observe the coronal, horizontal and sagittal images of the brain and spinal cord in order to discuss the etiological mechanisms of spinal dysraphysm and its associated anomalies. In case of spina bifida cystica MRI was available to decide operative indication for radical operation and tetherd cord developed from postoperative scar or accompanied intraspinal lesions.

  9. Challenges of congenital malformations: an African perspective

    African Journals Online (AJOL)

    2017-04-02

    Apr 2, 2017 ... anomaly screening program in a Nigerian university hospital: redefining obstetrics practice in a developing African country. Niger Med J 2015;. 56:263. 39 Bouman N. The psychosocial adjustment of children with major congenital abdominal anomalies [PhD thesis]. Rotterdam: Erasmus University; 1999.

  10. Congenital pyloric atresia: clinical features, diagnosis, associated ...

    African Journals Online (AJOL)

    Congenital pyloric atresia: clinical features, diagnosis, associated anomalies, management and outcome. ... Conclusion: CPA is a very rare malformation that can be familial and inherited as an autosomal recessive. It can either occur as an isolated lesion with an excellent prognosis, or be associated with other anomalies.

  11. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  12. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  13. Congenital broncho-oesophageal fistula

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... A case of broncho-oesophageal fistula causing bronchiectasis of the left· lung is reported. Oesophagorespiratory fistulas without atresia of the oesophagus often have an insidious clinical course and most commonly present in adulthood. This rare congenital anomaly should be considered as a cause of ...

  14. Aberrant internal carotid artery in the middle ear

    Energy Technology Data Exchange (ETDEWEB)

    Roh, Keun Tak; Kang, Hyun Koo [Dept. of Radiology, Seoul Veterans Hospital, Seoul (Korea, Republic of)

    2014-10-15

    The knowledge about the aberrant internal carotid artery (ICA) in the middle ear is essential for clinicians, because a misdiagnosis of the aberrant ICA could have serious consequences such as excessive aural bleeding during a middle ear surgery. A 38-year-old woman presented with tinnitus and hearing difficulties of the left ear that had started 5 years ago. During otoscopy, an anteroinferior bluish mass was seen in the tympanic space. Computed tomography and magnetic resonance imaging demonstrated a left-side aberrant ICA with bony dehiscence of the carotid canal in the middle ear and a reduced diameter of the tympanic ICA. Herein we report a case of an aberrant ICA in the middle ear. We also review the literature regarding this important vascular anomaly of the temporal bone which may lead to disastrous surgical complications.

  15. Aberrant internal carotid artery in the middle ear

    International Nuclear Information System (INIS)

    Roh, Keun Tak; Kang, Hyun Koo

    2014-01-01

    The knowledge about the aberrant internal carotid artery (ICA) in the middle ear is essential for clinicians, because a misdiagnosis of the aberrant ICA could have serious consequences such as excessive aural bleeding during a middle ear surgery. A 38-year-old woman presented with tinnitus and hearing difficulties of the left ear that had started 5 years ago. During otoscopy, an anteroinferior bluish mass was seen in the tympanic space. Computed tomography and magnetic resonance imaging demonstrated a left-side aberrant ICA with bony dehiscence of the carotid canal in the middle ear and a reduced diameter of the tympanic ICA. Herein we report a case of an aberrant ICA in the middle ear. We also review the literature regarding this important vascular anomaly of the temporal bone which may lead to disastrous surgical complications.

  16. Congenital skull defect and neurofibroma: without scalp and other abnormalities.

    Science.gov (United States)

    Wang, Jie-Cong; Wei, Liu; Xu, Jia; Liu, Jian-Feng; Gui, Lai

    2012-07-01

    Congenital skull defect is a rare malformation that is usually associated with congenital anomalies of the scalp and comparable lesions in the brain, spinal cord, limbs, and skeletal muscle. Most previously reported cases have described skull defects with aplasia cutis congenita and other congenital abnormalities. Very few patients with skull defects present with an intact scalp or neurofibroma. The authors report an adult patient with a rare congenital skull defect and local neurofibroma.

  17. Middle Ear Infections (For Parents)

    Science.gov (United States)

    ... happen when viruses or bacteria get into the middle ear, the space behind the eardrum. When a child has an ear infection (also called otitis media ), ... down can cause painful pressure changes in the middle ear. Older kids can complain about ear pain, but a younger child might just tug at the ear or be ...

  18. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

    McGivern, Mark R.; Best, Kate E.; Rankin, Judith

    2015-01-01

    reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence......INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

  19. Penile Anomalies in Adolescence

    Directory of Open Access Journals (Sweden)

    Dan Wood

    2011-01-01

    Full Text Available This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as exstrophy/epispadias are discussed, including the psychological outcomes, common problems (such as corporal asymmetry, chordee, and scarring in this group, and surgical assessment for potential surgical candidates. The emergence of new surgical techniques continues to improve outcomes and potentially raises patient expectations. The importance of balanced discussion in conditions such as micropenis, including multidisciplinary support for patients, is important in order to achieve appropriate treatment decisions. Topical treatments may be of value, but in extreme cases, phalloplasty is a valuable option for patients to consider. In buried penis, the importance of careful assessment and, for the majority, a delay in surgery until puberty has completed is emphasised. In hypospadias patients, the variety of surgical procedures has complicated assessment of outcomes. It appears that true surgical success may be difficult to measure as many men who have had earlier operations are not reassessed in either puberty or adult life. There is also a brief discussion of acquired penile anomalies, including causation and treatment of lymphoedema, penile fracture/trauma, and priapism.

  20. 'Outrunning' the running ear

    African Journals Online (AJOL)

    Chantel

    acute purulent otitis media should be considered when evaluating a patient with a running ear.These are listed in Table I. To outrun the running ear all these facts should be kept in mind when evaluating a patient. HISTORY. Some important questions to ask, are: • Family history. • cystic fibrosis. • allergies — nasal, chest and.

  1. External Otitis (Swimmer's Ear)

    Science.gov (United States)

    ... an otoscope for redness, swelling, and pus. Debris removal, antibiotic ear drops, keeping water out of the ear, and pain relievers are ... cleaning it (using cotton-tipped swabs) or getting water or irritants, such as hair spray or hair dye, in the canal often leads to external otitis. ...

  2. "Swimmer's Ear" (Otitis Externa) Prevention

    Science.gov (United States)

    ... drops. Is there a difference between a childhood middle ear infection and swimmer's ear? Yes. Swimmer’s ear ... WASH-related Emergencies & Outbreaks Water, Sanitation, & Environmentally-related Hygiene Get Email Updates To receive email updates about ...

  3. FOETAL ULTRASOUND - NEUROECTODERMAL ANOMALIES IN RURAL PREGNANT WOMEN

    Directory of Open Access Journals (Sweden)

    Mala Venkata

    2016-06-01

    Full Text Available BACKGROUND A prospective clinical study to know the various types of congenital Neuroectodermal Anomalies on obstetric Ultrasound, in rural pregnant women. To reduce the maternal morbidity and mortality by early detection of these Congenital Neuroectodermal Anomalies. To calculate the incidence and prevalence of different types of Congenital Neuroectodermal Anomalies, in these rural pregnant women. To assist the obstetrician in taking decisions regarding the termination or continuation of the pregnancy in relation to the type of malformation and its prognosis. METHODS A prospective clinical study of Congenital Neuroectodermal Anomalies in 22,000 rural pregnant women coming to the Santhiram Medical College, Radiology Department for a routine obstetric scan. 44 cases of neuroectodermal anomalies were detected out of the 22000 cases, within an incidence of 2 per 1000 cases. Approximately 1 in every 500 cases showed an anomaly. RESULTS The most common lesions detected were hydrocephalus, and spina bifida followed by anencephaly. Association of these lesions with consanguinity, previous history of similar anomaly and intake of iron and folic acid tablets was noted. CONCLUSION Ultrasound is an excellent modality for the diagnosis and characterisation of the neuroectodermal anomalies. Its multiplanar imaging property along with real time image visualisation make it an excellent tool for the diagnosis and characterisation of these anomalies

  4. Cake kidney: a rare anomaly of renal fusion

    Directory of Open Access Journals (Sweden)

    Guilherme Lippi Ciantelli

    2012-06-01

    Full Text Available ABSTRACT The cake kidney is a rare congenital anomaly of the urinogenital tract that can be diagnosed at any age. Few more than 20 cases have been described in the literature. The authors describe in this article another case of this rare malformation. Key-words: kidney, congenital abnormalities, rare diseases.

  5. Ear Problems in Swimmers

    Directory of Open Access Journals (Sweden)

    Mao-Che Wang

    2005-08-01

    Full Text Available Acute diffuse otitis externa (swimmer's ear, otomycosis, exostoses, traumatic eardrum perforation, middle ear infection, and barotraumas of the inner ear are common problems in swimmers and people engaged in aqua activities. The most common ear problem in swimmers is acute diffuse otitis externa, with Pseudomonas aeruginosa being the most common pathogen. The symptoms are itching, otalgia, otorrhea, and conductive hearing loss. The treatment includes frequent cleansing of the ear canal, pain control, oral or topical medications, acidification of the ear canal, and control of predisposing factors. Swimming in polluted waters and ear-canal cleaning with cotton-tip applicators should be avoided. Exostoses are usually seen in people who swim in cold water and present with symptoms of accumulated debris, otorrhea and conductive hearing loss. The treatment for exostoses is transmeatal surgical removal of the tumors. Traumatic eardrum perforations may occur during water skiing or scuba diving and present with symptoms of hearing loss, otalgia, otorrhea, tinnitus and vertigo. Tympanoplasty might be needed if the perforations do not heal spontaneously. Patients with chronic otitis media with active drainage should avoid swimming, while patients who have undergone mastoidectomy and who have no cavity problems may swim. For children with ventilation tubes, surface swimming is safe in a clean, chlorinated swimming pool. Sudden sensorineural hearing loss and some degree of vertigo may occur after diving because of rupture of the round or oval window membrane.

  6. Inner ear dysplasia is common in children with Down syndrome (trisomy 21).

    Science.gov (United States)

    Blaser, Susan; Propst, Evan J; Martin, Daniel; Feigenbaum, Annette; James, Adrian L; Shannon, Patrick; Papsin, Blake C

    2006-12-01

    Middle and external ear anomalies are well recognized in Down syndrome (DS, trisomy 21). Inner ear anomalies are much less frequently described. This study reviews inner ear morphology on imaging to determine the prevalence of cochlear and vestibular anomalies in children with DS. The authors conducted a retrospective review of imaging features of (DS) inner ear structures. Fifty-nine sequential patients with DS with imaging of the inner ear were identified by a radiology report text search program. Quantitative biometric assessment of the inner ear was performed on patients with high-resolution computed tomography or magnetic resonance images of the petrous bone. Petrous imaging was performed for evaluation of inflammatory disease or hearing loss. Spinal imaging, which included petrous views, was performed in most cases to exclude C1 to 2 dislocation, a potential complication of DS. Measurements were compared with normative data. Inner ear dysplasia is much more common in DS than previously reported. Inner ear structures are universally hypoplastic. Vestibular malformations are particularly common and a small bony island of the lateral semicircular canal (vestibule into a single cavity, vestibular aqueduct and endolymphatic sac fossa enlargement, cochlear nerve canal hypoplasia, and stenosis or duplication of the internal auditory canal. Stenosis of the external meatus, poor mastoid pneumatization, middle ear and mastoid opacification, and cholesteatoma were common, as expected.

  7. [Developmental venous anomaly (DVA)].

    Science.gov (United States)

    Zimmer, A; Hagen, T; Ahlhelm, F; Viera, J; Reith, W; Schulte-Altedorneburg, G

    2007-10-01

    As congenital anatomic variants of venous drainage, developmental venous anomalies (DVA) represent up to 60% of all cerebral vascular malformations. The prior term "venous angioma" is a misnomer implicating an abnormal vascular structure with an increased bleeding risk. They are often found incidentally and are hardly ever symptomatic. Their morphologic characteristics are dilated vessels in the white matter, which converge on a greater collector vein, forming the typical caput medusae. They drain into the superficial or deep venous system. The frequent association with other, potentially bleeding-prone vascular malformations is clinically relevant, in particular cavernous angioma, which might require therapeutic action. Therefore, coincident vascular lesions need to be actively sought by appropriate additional imaging techniques.

  8. DOWN'S ANOMALY.

    Science.gov (United States)

    PENROSE, L.S.; SMITH, G.F.

    BOTH CLINICAL AND PATHOLOGICAL ASPECTS AND MATHEMATICAL ELABORATIONS OF DOWN'S ANOMALY, KNOWN ALSO AS MONGOLISM, ARE PRESENTED IN THIS REFERENCE MANUAL FOR PROFESSIONAL PERSONNEL. INFORMATION PROVIDED CONCERNS (1) HISTORICAL STUDIES, (2) PHYSICAL SIGNS, (3) BONES AND MUSCLES, (4) MENTAL DEVELOPMENT, (5) DERMATOGLYPHS, (6) HEMATOLOGY, (7)…

  9. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

    Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

  10. Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

    International Nuclear Information System (INIS)

    Li Xin; Li Minglin; Yang Zhiyong

    1997-01-01

    To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

  11. Ear Infections - Multiple Languages

    Science.gov (United States)

    ... Ear Infection in Children - 简体中文 (Chinese, Simplified (Mandarin dialect)) Bilingual PDF Health Information Translations Chinese, Traditional (Cantonese dialect) (繁體中文) Expand Section Middle ...

  12. Ear tube insertion

    Science.gov (United States)

    ... mastoiditis) or the brain, or that damages nearby nerves Injury to the ear after sudden changes in ... does not heal after the tube falls out. Most of the time, these problems DO NOT last long. They also ...

  13. Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

    NARCIS (Netherlands)

    Postma, Alex V.; van Engelen, Klaartje; van de Meerakker, Judith; Rahman, Thahira; Probst, Susanne; Baars, Marieke J. H.; Bauer, Ulrike; Pickardt, Thomas; Sperling, Silke R.; Berger, Felix; Moorman, Antoon F. M.; Mulder, Barbara J. M.; Thierfelder, Ludwig; Keavney, Bernard; Goodship, Judith; Klaassen, Sabine

    2011-01-01

    Background-Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding

  14. Anomalie de développement sexuel : un cas de ...

    African Journals Online (AJOL)

    ... the sexual development XX, rare intersexual state, represents the most frequent affection of the anomalies of the sexual development. The most frequent reason is the congenital hyperplasia of the adrenal. We return in this present work a case of feminine pseudohermaphrodism or anomaly of the sexual development XX.

  15. Acute rheumatic fever in a child with Ebstein anomaly | Otaigbe ...

    African Journals Online (AJOL)

    Background: Ebstein anomaly (atrialisation of the right ventricle ) alone constitutes 0.5 -1% of congenital heart disease and usually presents as an isolated lesion. Association with mitral valve stenosis has been reported previously. We however present a case of Ebstein's anomaly with recurrent acute rheumatic fever (ARF) ...

  16. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  17. Congenital Myopathy

    Science.gov (United States)

    ... results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting ...

  18. Congenital Myasthenia

    Science.gov (United States)

    ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ...

  19. Congenital ganglioglioma.

    Science.gov (United States)

    Karthikeyan, Gengaimuthu; Subburam, Paiyanan; Ravishankar, Soundian Soundian

    2002-03-01

    Congenital neoplasms of brain presenting at birth are extremely uncommon. We report a case of congenital ganglioglioma presenting at birth with hydrocephalus. Ventriculoperitoneal shunt and surgical debulking of the tumour along with histopathological confirmation were done at 6 months of age. On follow-up at 18 months, the child's hydrocephalus is static and his assessed developmental age is 10-12 months.

  20. MR imaging of paediatric uterovaginal anomalies

    International Nuclear Information System (INIS)

    Lang, I.M.; Babyn, P.; Oliver, G.D.

    1999-01-01

    Background. Transabdominal ultrasound (US) has not proved completely reliable in Muellerian duct anomalies. One study has shown it useful in obstructed uterovaginal anomalies. We are unaware of a study that has used endovaginal ultrasound in children to investigate uterovaginal anomalies. Magnetic resonance imaging (MRI) is now gaining wide acceptance in imaging congenital abnormalities of the genital tract. Objective. To identify the problems and potential pitfalls of using MRI to evaluate the female genital tract in paediatric patients. Materials and methods. A retrospective review of the MRI scans of 19 patients, aged 3 months to 19 years (mean 14 years), with uterovaginal anomalies. Results. The uterovaginal anomalies were categorised into three groups: (1) congenital absence of the Muellerian ducts, or the Mayer-Rokitansky-Kuster-Hauser syndrome (n = 7), (2) disorders of vertical fusion (n = 2) and (3) disorders of lateral fusion (n = 10). Conclusions. MRI is a reliable method for evaluating paediatric uterovaginal anomalies, but should be analysed in conjunction with other imaging modalities (US and genitography). Previous surgery makes interpretation more difficult and, if possible, MRI should be carried out prior to any surgery. An accurate MRI examination can be extremely helpful prior to surgery and it is important for the radiologist to have knowledge of how these complex anomalies are managed and what pitfalls to avoid. (orig.)

  1. A study of dental anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Sook; Kim, Jae Duck [Dept. of Oral Radiology, College of Dentistry, Chosun University, Kwangju (Korea, Republic of)

    1993-08-15

    The purpose of this study was to find out the prevalence of dental anomalies in 600 normal persons (male:363, female:237) at age 14 to 39 years, through history taking, oral examination, and radiographic observations of subjects. The obtained results were as follows: 1. The prevalence of individual dental anomalies were as follows; Congenitally missing teeth 7%; supernumerary teeth 1.33%; ectopic eruption 8.50%; transposition 0.33%; rotation 23.67%; microdontia 11.16% (peg lateral is 5.33%; third molar 5.83%); prolonged retention of deciduous teeth 1.33%; crowding 49.83%; and spacing 15.17%. 2. Alterations in numbers of teeth : The most frequently missing teeth were mandibular lateral incisors, followed by mandibular second premolars and maxillary second premolars. In numbers of congenitally missing teeth per person, 52.38% had one missing tooth and 30.95% had two missing teeth. In supernumerary teeth, there was higher rate in male than in female. Most supernumerary teeth were mesiodens of median area in maxilla and the eruption pattern of that teeth generally was unerupted state. 3. In transposition, exchange of position of teeth involved the canine and first premolar. 4. Congenital missing rate of permanent successors in prolonged retention of deciduous teeth was 69.23%. 5. Crowding and spacing had respectively higher rate in mandible and in maxilla.

  2. A study of dental anomalies

    International Nuclear Information System (INIS)

    Yang, Sook; Kim, Jae Duck

    1993-01-01

    The purpose of this study was to find out the prevalence of dental anomalies in 600 normal persons (male:363, female:237) at age 14 to 39 years, through history taking, oral examination, and radiographic observations of subjects. The obtained results were as follows: 1. The prevalence of individual dental anomalies were as follows; Congenitally missing teeth 7%; supernumerary teeth 1.33%; ectopic eruption 8.50%; transposition 0.33%; rotation 23.67%; microdontia 11.16% (peg lateral is 5.33%; third molar 5.83%); prolonged retention of deciduous teeth 1.33%; crowding 49.83%; and spacing 15.17%. 2. Alterations in numbers of teeth : The most frequently missing teeth were mandibular lateral incisors, followed by mandibular second premolars and maxillary second premolars. In numbers of congenitally missing teeth per person, 52.38% had one missing tooth and 30.95% had two missing teeth. In supernumerary teeth, there was higher rate in male than in female. Most supernumerary teeth were mesiodens of median area in maxilla and the eruption pattern of that teeth generally was unerupted state. 3. In transposition, exchange of position of teeth involved the canine and first premolar. 4. Congenital missing rate of permanent successors in prolonged retention of deciduous teeth was 69.23%. 5. Crowding and spacing had respectively higher rate in mandible and in maxilla.

  3. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  4. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion.

    Science.gov (United States)

    Neilan, Edward; Pikman, Yana; Kimonis, Virginia E

    2006-06-01

    We describe the clinical presentation of a boy with Peters anomaly and a cataract of the left eye in association with multiple midline defects. His extraocular developmental abnormalities include cleft lip and palate, cardiac anomalies, an atretic cranial meningocele, as well as malformation of the left ear with chronic otitis media. Genetic analysis revealed a balanced paracentric inversion of chromosome 4, inv(4)(q12q13.3), also present in his asymptomatic father and siblings. His normal stature and cognitive development distinguish this case from the Peters Plus syndrome. The presence of a cranial meningocele represents a new association with Peters anomaly.

  5. Computer-aided virtual surgery for congenital aural atresia.

    Science.gov (United States)

    Smouha, E E; Chen, D; Li, B; Liang, Z

    2001-03-01

    Computer-enhanced three-dimensional (3D) computed tomography (CT) provides accurate spatial representation of the complex surgical anatomy of congenitally atretic ears, and is superior to conventional CT for surgical planning. The surgical repair of congenital aural atresia is challenging. Conventional CT, routinely used for surgical planning, is limited in its ability to represent spatial relationships between important structures. Because of the lack of density differences between bony structures in the ear, 3D CT has thus far been useful for representing surface contour but not internal anatomy. A two-level segmentation scheme was developed to distinguish structures in the temporal bone. 3D CT reconstructions of congenital ears were produced with a high-resolution helical scanner. An interactive tool was used to mark the ossicles and facial nerve. The segmentation scheme was used to color-enhance the ossicles and otic capsule, and render the surrounding bone translucent. "Virtual surgery" was then performed by subtracting a cylindrical volume of bone lateral to the atresia plate. The enhanced 3D CT reconstructions were correlated with intraoperative video recordings. In four congenital ears, computer-enhanced 3D CT was highly predictive of the actual anatomy. Surgery was avoided in two anatomically unfavorable cases. Computer-enhanced 3D CT is a major advance over conventional CT for demonstrating the complex spatial relationships in congenitally atretic ears.

  6. A sign on CT that predicts a hazardous ureteral anomaly

    Directory of Open Access Journals (Sweden)

    E.S. Allam

    2016-01-01

    Conclusion: Anterior deviation of the ureter in its mid-course appears to predict inguinoscrotal herniation of the ureter. This finding is a sensitive predictor and should raise concern for this anomaly in the appropriate clinical setting. It is not entirely specific as morbid obesity and congenital anomalies may result in a similar imaging appearance. We believe that this association has not been reported previously. Awareness of this anomaly can have significant operative implications.

  7. [Associated brachial cleft anomalies in the cat eye syndrome].

    Science.gov (United States)

    Avior, Galit; Derowe, Ari; Fliss, Dan M; Leicear-Trejo, Leonor; Braverman, Itzhak

    2007-02-01

    The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited and represents an inv dup 22 (q11). A two years old female presented to our department with an association of cat eye syndrome with preauricular tags and a first branchial arch anomaly. This article discusses the surgical management and the association between the cat eye syndrome and first branchial cleft anomaly.

  8. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome

    NARCIS (Netherlands)

    Silversides, Candice K.; Kiess, Marla; Beauchesne, Luc; Bradley, Timothy; Connelly, Michael; Niwa, Koichiro; Mulder, Barbara; Webb, Gary; Colman, Jack; Therrien, Judith

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. Since the 2001 Canadian Cardiovascular Society

  9. Congenital hearing loss. Is CT enough?

    African Journals Online (AJOL)

    Mahmoud Agha

    2014-01-24

    Jan 24, 2014 ... a Medical Research Institute, Alexandria University, Egypt b Almana General Hospital, ... Hearing is a complex physiological process, which is mediated through .... Coronal reformat HRCT temporal bone of patient with combined left external and middle ear anomalies with low Jahrsdoerfer score: (A) Atretic ...

  10. Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

    Directory of Open Access Journals (Sweden)

    Diana Bancin

    2015-03-01

    Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

  11. Syngnathia-congenital unilateral bony fusion of the maxilla and mandible

    Directory of Open Access Journals (Sweden)

    G V Ramachandra Reddy

    2008-01-01

    Full Text Available Congenital disorders involving orofacial region represents approximately 20% of all birth defects. Out of these disorders, congenital bony fusion of the maxilla and mandible (syngnathia is rare. Usually syngnathia is associated with other anomalies and syndromes. This case report presents a unilateral fusion of maxilla and mandible with no other anomalies.

  12. Congenital Abnormalities

    Science.gov (United States)

    ... Stages Ages and Stages Prenatal Baby (0-12 mos.) Toddler 1-3yrs. Preschool 3-5yrs Grade School ... Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic material inherited from one generation ...

  13. Tracheomalacia - congenital

    Science.gov (United States)

    ... other congenital abnormalities, such as heart defects, developmental delay, or gastroesophageal reflux. Aspiration pneumonia can occur from ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  14. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  15. Chlorination disinfection by-products in drinking water and congenital anomalies: review and meta-analyses Subprodutos da desinfecção com cloro em água potável e anomalias congênitas: revisão e meta-análise

    Directory of Open Access Journals (Sweden)

    Mark J. Nieuwenhuijsen

    2010-10-01

    Full Text Available This study aims to review epidemiologic evidence of the association between exposure to chlorination disinfection by-products (DBPs and congenital anomalies. All epidemiologic studies that evaluated a relationship between an index of DBP exposure and risk of congenital anomalies were analyzed. For all congenital anomalies combined, the meta-analysis gave a statistically significant excess risk for high versus low exposure to water chlorination or TTHM (17%; 95% CI, 3-34 based on a small number of studies. The meta-analysis also suggested a statistically significant excess risk for ventricular septal defects (58%; 95% CI, 21-107, but based on only three studies, and there was little evidence of an exposure-response relationship. It was observed no statistically significant relationships in the other meta-analyses and little evidence for publication bias, except for urinary tract defects and cleft lip and palate. Although some individual studies have suggested an association between chlorination disinfection by-products and congenital anomalies, meta-analyses of all currently available studies demonstrate little evidence of such association.O objetivo deste estudo é revisar evidências epidemiológicas da associação entre a exposição a subprodutos da desinfecção com cloro (DBPs e anomalias congênitas. Todos os estudos epidemiológicos que avaliaram a relação entre o índice de exposição a DBPs e o risco de anomalias congênitas foram analisados. Para todas as anomalias congênitas combinadas, a meta-análise resultou em um risco de excesso estatisticamente significante para alta versus baixa exposição à cloração da água ou ao TTHM (17%; 95% CI, 3-34 baseado em um pequeno número de estudos. A meta-análise também sugere um excesso de risco estatisticamente significante para defeitos septais ventriculares (58%; 95% CI, 21-107, porém com base em apenas três estudos, nos quais se encontrou pouca evidência na relação exposi

  16. Coronary artery anomalies in Turner Syndrome.

    Science.gov (United States)

    Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H

    Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.

  17. Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.

    Science.gov (United States)

    Glueckert, Rudolf; Rask-Andersen, Helge; Sergi, Consolato; Schmutzhard, Joachim; Mueller, Bert; Beckmann, Felix; Rittinger, Olaf; Hoefsloot, Lies H; Schrott-Fischer, Anneliese; Janecke, Andreas R

    2010-03-01

    CHARGE (Coloboma of the iris or retina, heart defects, atresia of the choanae, retardation of growth and/or development, genital anomalies, ear anomalies) syndrome (OMIM #214800) affects about 1 in 10,000 children and is most often caused by chromodomain helicase DNA-binding protein-7 (CHD7) mutations. Inner ear defects and vestibular abnormalities are particularly common. Specifically, semicircular canal (SCC) hypoplasia/aplasia and the presence of a Mondini malformation can be considered pathognomonic in the context of congenital malformations of the CHARGE syndrome. We obtained a temporal bone (TB) of a patient with CHARGE syndrome who died from bacteremia at 3 months of age. The clinical diagnosis was confirmed in the patient by direct DNA sequencing and the detection of a de novo, truncating CHD7 mutation, c.6169dup (p.R2057fs). We assessed changes of the TB and the degree of neural preservation, which may influence the potential benefit of cochlear implantation. The TB was analyzed using synchrotron radiation-based micro computed tomography, and by light microscopy. The vestibular partition consisted of a rudimentary vestibule with agenesis of the SCCs. The cochlea was hypoplastic with poor or deficient interscaling and shortened (Mondini dysplasia). The organ of Corti had near normal structure and innervation. Modiolus and Rosenthal's canal were hypoplastic with perikarya displaced along the axon bundles into the internal acoustic meatus, which may be explained by the arrest or limited migration and translocation of the cell nuclei into the cochlear tube during development. (c) 2010 Wiley-Liss, Inc.

  18. [Influence of nonindustrial risk factors on congenital abnormalities formation].

    Science.gov (United States)

    Talykova, L V

    2009-01-01

    Congenital abnormalities could result from exposure to occupational hazards. Epidemiologic study of nickel compounds influence on reproductive health in females engaged into nickel purification in Murmansk region enterprises did not reveal increased risk of the anomalies. The study was aimed to define influence of various risk factors connected not to work conditions, but to mother's health, bad habits, age, on congenital abnormalities in newborns.

  19. Evaluation of an Infant with Cholestasis and Congenital Hypopituitarism

    Directory of Open Access Journals (Sweden)

    Wahhaj Beg

    2017-10-01

    Full Text Available We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.

  20. Congenital Heart Diseases in Adults: A Review of Echocardiogram ...

    African Journals Online (AJOL)

    The most common congenital anomalies were ventricular septal defects (VSD) ‑ 31.3%, (36/115), atrial septal defects ‑ 28.7% (33/115) and tetralogy of fallot ‑ 10.4% (12/115). Conclusion: VSD are the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, Nigeria.