A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR: AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK?

Directory of Open Access Journals (Sweden)

Gurudutt S. Joshi

2017-10-01

Full Text Available A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations, revealed Corpus callosum hypoplasia and closely related features with two rare syndromes Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Hemivertebrae, Ear/Eye Anomalies, and Kidney Dysplasia (BRESHECK.

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.

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....

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.

Insulin analogues in pregnancy and specific congenital anomalies

DEFF Research Database (Denmark)

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

2016-01-01

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. We performed a literature search for studies of pregnant...... 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...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....

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

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

Congenital malformations of the external and middle ear: high-resolution CT findings of surgical import

International Nuclear Information System (INIS)

Swartz, J.D.; Faerber, E.N.

1985-01-01

The external auditory canal, middle ear, and bulk of the ossicular chain develop from the first branchial groove, first and second branchial arches, and first pharyngeal pouch. Embryologic development of these structures is complex and only rarely are two anomalies identical. This study includes 11 cases of unilateral external auditory canal atresia and two cases of bilateral atresia. Eight cases (four bilateral) of isolated congenital ossicular anomalies are also included. Emphasis is placed on findings of surgical import. All patients were studied with computed tomography only, because it was believed that the bony and soft-tissue detail achieved is superior to that with conventional multidirectional tomography

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)

Congenital anomalies and normal skeletal variants

International Nuclear Information System (INIS)

Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

1987-01-01

Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

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.

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

2018-04-01

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.

Congenital anomalies of the male urethra

International Nuclear Information System (INIS)

Levin, Terry L.; Han, Bokyung; Little, Brent P.

2007-01-01

The spectrum of congenital anomalies of the male urethra is presented. The embryologic basis of each anomaly, when known, is discussed. Clinical and imaging features of each entity are presented. (orig.)

CT of temporal bone - IV. inner ear

International Nuclear Information System (INIS)

Kwon, Jae Yoon; Sung, Kyu Bo; Youn, Eun Kyoung; Park, Youn Kyeung; Lee, Young Uk

1990-01-01

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)

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

Congenital hand anomalies in Upper Egypt

Directory of Open Access Journals (Sweden)

Tarek Abulezz

2016-01-01

Full Text Available Background: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient's life. Patients and Methods: This is a follow-up study of 64 patients with hand anomalies of variable severity. All patients were presented to Plastic Surgery Department of Sohag University Hospital in a period of 24 months. Results: This study revealed that failure of differentiation and duplication deformities were the most frequent, with polydactyly was the most common anomaly encountered. The mean age of presentation was 6 years and female to male ratio was 1.46:1. Hand anomalies were either isolated, associated with other anomalies or part of a syndrome. Conclusion: Incidence of congenital hand anomalies in Upper Egypt is difficult to be estimated due to social and cultural concepts, lack of education, poor registration and deficient medical survey. Management of hand anomalies should be individualised, carefully planned and started as early as possible to achieve the best outcome.

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

Directory of Open Access Journals (Sweden)

Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

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

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...... studies with pregnancies exposed to newer AEDs and detailed information on congenital anomalies. The congenital anomalies in the studies were classified according to the congenital anomaly subgroups of European Surveillance of Congenital Anomalies (EUROCAT). We compared the prevalence of specific...... and were not supported by other studies. No signals were found for the other newer AEDs, or the information was too limited to provide such a signal. CONCLUSION: In terms of associations between monotherapy with a newer AED in the first trimester of pregnancy and a specific congenital anomaly, the signals...

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.)

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.)

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.

[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.

Congenital anomalies of the spine: radiologic findings

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung Kyu; Kim, Sang Won; Ryu, Kyung Nam [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

2003-04-01

Congenital anomalies of the spine are frequent and variable. Some are restricted to skeletal structures, while others involve combine neural tube defects or are associated with other multi-systemic disorders. Structural spinal anomalies can be classified according to their location: 1) the vertebral body, 2) the articular process, 3) the lamina with spinous process, 4) the pars interarticularis, 5) the facet joint, 6) the pedicle, or 7) other. Because of similarities between these congenital anomalies and (a) secondary changes involving infection or joint disease and (b) deformities resulting from trauma and uncertain tumorous conditions, significant confusion can occur during diagnosis. Moreover, since the anomalies often give rise to both functional impairment and cosmetic problem, appropriate treatment relies crucially on accurate diagnosis. The authors illustrate the pathogenesis and radiologic findings of the relatively common spinal anomalies confined to skeletal structures.

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

How Accurate Is Diagnosis of Congenital Anomalies Made by Family Physicians?

Directory of Open Access Journals (Sweden)

Hossein Mashhadi Abdolahi

2014-12-01

Full Text Available Background: Although family physicians have a key role in clinical management of many diseases and in community health, the accuracy of the diagnosis for congenital anomalies by family physicians still needs more investigations. The aim of this study was to assess the accuracy of family physicians in case detec-tion and diagnosis of congenital anomalies in rural areas, northwest of Iran. Methods: In a community-based study of 22500 children born between 2004 and 2012, all 172 cases of congenital anomalies diagnosed by family physicians were assessed by a qualified pediatrician in 47 health houses in rural areas of Tabriz District, northwest Iran. A group of 531 children was compared as con-trol subjects. Results: The overall sensitivity and specificity of family physicians‟ diagnosis for congenital anomalies were estimated 98% (95% Confidence Interval (CI: 95.9 to 100 and 100% (95% CI: 99.3 to 100, respectively. Sensitivity for diagnosis of congenital heart diseases was 97% (95% CI: 93 to 100, and for genitourinary tract, it was 86% (95% CI: 59 to 100. Specificity was estimated 100% for both groups of heart and genitourinary tract anomalies. Conclusion: The performance of family physicians was found accurate enough in the diagnosis of congenital anomalies. Health care system may consider family physician program as an effective approach to detect and clinical management of congenital anomalies.

[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.

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.

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

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

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.

Neonatal Hairy Ear Pinnae and Gestational Diabetes: Just a Coincidence?

Science.gov (United States)

Valerio, Enrico; Riello, Laura; Chirico, Michela; Semenzato, Rossella; Cutrone, Mario

2015-01-01

A newborn girl of 36 weeks gestation was noted to have several anomalies, including bilateral low ear attachment with ear pinnae hypertrichosis, left preauricular pit, micrognathia, short lingual frenulum, and short neck. Pregnancy history revealed poorly controlled maternal gestational diabetes (GD). Localized hypertrichosis of the ear pinnae may represent a potential marker of GD and thereby alert physicians to suspect other potentially GD-associated conditions such as macrosomia, asphyxia, respiratory distress, hypoglycemia, hypocalcemia, hyperbilirubinemia, polycythemia, hypertrophic cardiomyopathy, and congenital anomalies, particularly those involving the central nervous system. © 2015 Wiley Periodicals, Inc.

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

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...

External ear anomalies and hearing impairment in Noonan Syndrome.

Science.gov (United States)

van Trier, Dorothée C; van Nierop, Josephine; Draaisma, Jos M Th; van der Burgt, Ineke; Kunst, Henricus; Croonen, Ellen A; Admiraal, Ronald J C

2015-06-01

This is the first cohort in which hearing impairment and external ear anomalies in Noonan Syndrome are described extensively. Retrospective analysis of the otorhinolaryngological and clinical genetic data from 97 Noonan Syndrome (NS) patients. Forty-four NS patients were seen by an otorhinolaryngologist for the analysis of hearing impairment. In our cohort 80 of the 97 patients were genetically tested. In 71 of these mutations were found: in 48 patients a mutation in PTPN11, in 10 patients in SOS1, in 5 patients in SHOC2, in 5 patients in RAF1, in 1 patient in MAP2K2, in 1 patient in KRAS and in 1 patient in A2ML1. External ear anomalies were reported in 75 NS patients (77%). In 69 patients the ears were low-set, 28 patients had posteriorly rotated ears, 14 patients showed protruding ears and 18 had thickened helices. Hearing impairment was detected in 34 NS patients. Nine patients had sensorineural hearing impairment, two a permanent conductive hearing impairment, two other patients had mixed hearing impairment and 20 patients had conductive hearing impairment in the past, caused by otitis media with effusion. Their temporary conductive hearing impairment resolved between the ages of 2 and 18 years. Sensorineural hearing impairment varied between mild high-frequency hearing impairment and profound (uni- and bilateral) hearing impairment and was progressive in three patients. Four NS patients received cochlear implants for their severe sensorineural hearing impairment. The cohort is small for genotype-phenotype correlations, but sensorineural hearing impairment, especially the bilateral severe hearing impairment, was only seen in patients with a PTPN11 mutation. NS is characterized by dysmorphic external ear anomalies and both sensorineural and conductive hearing impairment. Audiological examinations are recommended in all patients with Noonan Syndrome. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

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 us...

EUROCAT website data on prenatal detection rates of congenital anomalies

NARCIS (Netherlands)

Garne, Ester; Dolk, Helen; Loane, Maria; Boyd, Patricia A.

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

Congenital anomalies in infants conceived by assisted reproductive techniques.

Science.gov (United States)

Mozafari Kermani, Ramin; Nedaeifard, Leila; Nateghi, Mohammad Reza; Shahzadeh Fazeli, Abolhassan; Ahmadi, Ebrahim; Osia, Mohammad Ali; Jafarzadehpour, Ebrahim; Nouri, Soudabeh

2012-04-01

Many studies show that congenital defects in infants conceived by assisted reproductive techniques (ART) are more than infants of normal conception (NC). The aim of this study is to determine the frequency of congenital anomalies in ART infants from Royan Institute and to compare congenital anomalies between two ART techniques.  In a cross-sectional descriptive study, 400 ART infants from Royan Institute who resided in Tehran were selected by non-random, consecutive sampling. Infants were examined twice (until 9 months of age) by a pediatrician. Infants' congenital anomalies were described by each body system or organ and type of ART. Data were analyzed by SPSS version 16 and Fisher's exact test. The frequency of different organ involvement in the two examinations were: 40 (10%) skin, 25 (6.2%) urogenital system, 21 (5.2%) gastrointestinal tract, 13 (3.2%) visual, and 8 (2%) cardiovascular system. Major congenital defects in infants conceived by in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) were hypospadiasis, inguinal hernia, patent ductus arteriosus plus ventricular septal defect (PDA + VSD), developmental dysplasia of the hip, lacrimal duct stenosis during the first year of life, hydronephrosis and urinary reflux over grade III, undescending testis, ureteropelvic junction stenosis, and torticoli. Two-thirds of ART infants had no defects. A total of 7% of IVF and ICSI infants had one of the major abovementioned congenital anomalies. This rate was higher than NC infants (2%-3%). There was no difference between the ICSI and IVF group.

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, ...

Comparative study of the congenital anomalies before and after Chernobyl disaster

International Nuclear Information System (INIS)

Zaprjanov, Z.; Porjazova, E.; Djambazova, S.; Hubavenska, I.; Velichkova, L.

2005-01-01

The aim of our study was a comparative examination of the congenital anomalies before and directly after the Chernobyl disaster in the early and later periods of time. For the study post mortem material of the Department of general and clinical pathology at the Medical University of Plovdiv was used. Eight hundred seventy eight cases of newborns with congenital anomalies for a 24-year period (1981-2004) were reviewed. The number of the congenital anomalies was compared quantitatively in general and in systems. Equal 5-year intervals of time were compared to a control 5-year period before the Chernobyl accident. The data were statistically processed using different statistical methods. The comparative study of the number of the congenital anomalies did not show a statistically significant increase in relation to the nuclear accident

[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.

Genetically caused congenital anomalies of reproductive system

Directory of Open Access Journals (Sweden)

L. F. Kurilo

2013-01-01

Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

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.

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...... 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....

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

African Journals Online (AJOL)

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 highestfrequency (37.9%), followed in descending order by chromosomal abnormalities (27.2%), circulatory system anomalies (22.3%), central nervous system (CNS) anomalies ...

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

International Nuclear Information System (INIS)

Edamatsu, Hideo; Uechi, Yoko; Honjyo, Shiro; Yamashita, Koichi; Tonami, Hisao.

1997-01-01

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)

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

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...

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...... disparity is a result of the socioeconomic disadvantage most migrants face. Consanguinity has been considered as another cause for the increased stillbirth risk and the high risk of congenital anomaly observed in many migrant groups. Utilization and quality of care during pregnancy and childbirth...

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.

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

Prevalence of Congenital Anomalies in Iran: A Systematic Review and Meta-analysis

Directory of Open Access Journals (Sweden)

Salman Daliri

2018-05-01

Full Text Available Background: Congenital anomaly is a disturbance in fetal growth and development during pregnancy and is one of the main causes of morbidity and mortality in the first year of life. In addition, this anomaly causes a large waste of heath care resources. We aimed to determine the prevalence and proportion rates of different congenital anomalies in Iran via a systematic review and meta-analysis.Methods: The present study was performed to estimate the prevalence and proportion rates of different anomalies in Iran via a systematic review and meta-analysis. Therefore, all the studies performed in Iran between 2000 and 2016 were evaluated. For this purpose, Medlib, Scopus, Web of Science, PubMed, Cochrane Library, Science Direct, Google Scholar, Irandoc, Magiran, IranMedex, and SID databases were searched by two different expert individuals independently. For the qualification survey of the papers, the Strengthening the Reporting of Observational Studies in Epidemiology checklist was applied. Then, the extracted data were entered into STATA (ver.11.1 and analysed using statistical tests of stability and random effects models in meta-regression, a tool used in meta-analysis. The 95% confidence intervals were calculated by I-square models. Meta regression was introduced to explore the heterogeneities among studies.Results: Overall, 36 papers with a total sample size of 909,961 neonates were analysed. The total prevalence rate for congenital anomalies was 18/1000 live births, 23.2/1000 and 18/1000 for boys and girls, respectively. Moreover, 55.8% of all congenital anomalies pertained to boys. The greatest prevalence and proportion rates of congenital anomalies belonged to musculoskeletal disorders followed by urogenital anomalies (9.3/1000 [34%] and 5.7/1000 [20%], respectively, and the lowest figures belonged to chromosomal and respiratory system anomalies (0.8/1000 [6%] and 0.3/1000 [2%], respectively.Conclusion: According to the findings of this meta

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

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 ...

A unique anomaly of the ear: Oculo-auriculo-vertebral spectrum or an isolated disruption?

NARCIS (Netherlands)

Theunissen, Eleonoor A. R.; Hoogslag, Isabella C. M.; van Spronsen, Erik; Oostra, Roelof J.; Ebbens, Fenna A.

2017-01-01

We present a rare case of a neonate with an isolated congenital condition of his right ear involving the outer ear, middle ear, eustachian tube, and the facial nerve, with an external opening into the skull that connects to the oropharynx. Taking this bizarre aspect of the exterior lesion and the

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.

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 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.

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)

Anteverted internal auditory canal as an inner ear anomaly in patients with craniofacial microsomia.

Science.gov (United States)

L'Heureux-Lebeau, Bénédicte; Saliba, Issam

2014-09-01

Craniofacial microsomia involves structure of the first and second branchial arches. A wide range of ear anomalies, affecting external, middle and inner ear, has been described in association with this condition. We report three cases of anteverted internal auditory canal in patients presenting craniofacial microsomia. This unique internal auditory canal orientation was found on high-resolution computed tomography of the temporal bones. This internal auditory canal anomaly is yet unreported in craniofacial anomalies. Copyright © 2014. Published by Elsevier Ireland Ltd.

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.

Does the visibility of a congenital anomaly affect maternal-infant attachment levels?

Science.gov (United States)

Boztepe, Handan; Ay, Ayşe; Kerimoğlu Yıldız, Gizem; Çınar, Sevil

2016-10-01

To determine whether congenital anomaly visibility affects maternal-infant attachment levels. The study population consisted of mothers who had infants with cleft lip/palate or congenital heart anomalies who were receiving treatment in a university hospital. The data were collected using the Structured Questionnaire Form and the Maternal Attachment Inventory. Statistically significant differences in maternal-infant attachment levels were observed between infants with cleft lips/palates and healthy infants and between infants with congenital heart anomalies and healthy infants. It is important to apply appropriate nursing interventions for these mothers during the postpartum period. © 2016, Wiley Periodicals, Inc.

FastStats: Birth Defects or Congenital Anomalies

Science.gov (United States)

... this? Submit What's this? Submit Button NCHS Home Birth Defects or Congenital Anomalies Recommend on Facebook Tweet ... 4,825 Infant deaths per 100,000 live births: 121.3 Cause of infant death rank: 1 ...

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

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.

Corpuscular radiation and congenital anomalies

International Nuclear Information System (INIS)

Sato, Shinji; Yajima, Akira

1983-01-01

Many explorations have been done by our antecessors to find out about the congenital anomalies which might be caused by X-ray or γ-ray and experimental teratological researches have also been done, with some results. However, there have been less systematic studies on corpuscular radiation. Neutron ray is a radioactive ray no electrically-charged equally as photon (X-ray, γ-ray). With an equal dosage of it as photon's, its localized energy is high so that it is different in RBE, OER, etc. In heavy charged particle (proton ray, He ion, Ne ion, π-meson ray), there is the characteristic that the energy increases at around the deepest spot within the range rather than at the point of injection into a system, which is called Bragg peak. The type and energy of this radiation reflected in the uniqueness in energy distribution, in ionization density and in LET makes it the most important radioactive biological parameter. At this paper, we shall review the types of radioactive rays and discuss the congenital anomalies (teratogenecity) including the experimental results obtained by application of our proton ray. (author)

Seasonality of Congenital Anomalies in Europe

NARCIS (Netherlands)

Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Mullaney, Carmel; Queisser-Luft, Annette; Rankin, Judith; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Yevtushok, Lyubov

BackgroundThis 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 to

Seasonality of congenital anomalies in Europe

DEFF Research Database (Denmark)

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

2014-01-01

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 relatio...

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

[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.

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.

Possibilities of fast track surgery principles in the treatment of congenital urological anomalies

Directory of Open Access Journals (Sweden)

Bižić Marta R.

2012-01-01

Full Text Available Introduction. Urogenital congenital anomalies are among the most common congenital anomalies and very frequent pathology in paediatric urology. Health care systems strive to shorten the duration and reduce the costs of hospitalization, while maintaining treatment effectiveness. Objective. To evaluate the duration of hospital stay of surgically treated patients with congenital urogenital anomalies and estimate the possibility of using fast track surgery principles in paediatric urology in the local settings of a developing country. Methods. Retrospective non-randomized study included 552 patients who had been surgically treated at the Urology Department of the University Children’s Hospital, during 2010. In line with their congenital anomalies, all patients were classified in one of four groups: I - upper urinary tract anomalies (252 patients; II - genital anomalies (164 patients; III - testicular anomalies (76 patients and IV - associated anomalies (60 patients. We analyzed the total duration of stay as well as preand post-operative stay in the hospital. Results. The average duration of hospitalization was 4.7±4.0 days. Patients with testicular anomalies stayed for the shortest period (2.3±1.9 days (p<0.01 and patients with associated anomalies stayed in the hospital the longest (6.5±4.7 days (p<0.01. Conclusion. Modern methods of surgical treatment allow reduction of hospitalization, financial savings to the healthcare system and greater comfort for patients. Our results showed that this is also possible to apply in our environment.

Congenital Duplex Gallbladder Anomaly Presenting as Gangrenous ...

African Journals Online (AJOL)

Valued eMachines Customer

A 43 year old female patient, Mrs. M.S, presented with a three week history of .... they develop gangrenous calculus cholecystitis as they may simulate a liver abscess ... Congenital anomalies of the gallbladder and anatomical variations of their ...

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).

Trends in congenital anomalies in Europe from 1980 to 2012

DEFF Research Database (Denmark)

Morris, Joan K.; Springett, Anna L.; Greenlees, Ruth

2018-01-01

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...... 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...

Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly

DEFF Research Database (Denmark)

Boyle, B; McConkey, R; Garne, E

2013-01-01

To assess the public health consequences of the rise in multiple births with respect to congenital anomalies.......To assess the public health consequences of the rise in multiple births with respect to congenital anomalies....

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...... 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...... of Congenital Anomalies (EUROCAT) CA registries. The linkage was evaluated by looking at linkage rate, characteristics of linked and non-linked cases, first trimester exposure rates for six groups of medicines according to the prescription data and information on medication use registered in the CA databases...

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

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)

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.

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.

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

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

Maternal life event stress and congenital anomalies.

Science.gov (United States)

Carmichael, S L; Shaw, G M

2000-01-01

We used data from a population-based case-control study to explore the relation between certain life events during the periconceptional period and several types of congenital anomalies. We ascertained cases from pregnancies ending in 1987-1989 and randomly selected controls from eligible liveborn infants. In telephone interviews, women reported deaths of anyone close to them. They also reported job losses or separations/divorces, for themselves or anyone close to them. Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with conotruncal heart defects, neural tube defects, and isolated cleft lip with or without palate. These associations tended to be restricted to women who were not obese and women with less than or equal to a high school education. This study suggests that women who experience stressful life events around the time of conception or early gestation may be at increased risk of delivering infants with certain congenital anomalies.

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

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.

Oculoauriculovertebral spectrum with radial anomaly in child.

Science.gov (United States)

Taksande, Amar; Vilhekar, Krishna

2013-01-01

Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

Oculoauriculovertebral spectrum with radial anomaly in child

Directory of Open Access Journals (Sweden)

Amar Taksande

2013-01-01

Full Text Available Oculoauriculovertebral spectrum (OAVS or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

[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.

Diagnosis of hearing impairment by high resolution CT scanning of inner ear anomalies

International Nuclear Information System (INIS)

Murata, Kiyotaka; Isono, Michio; Ohta, Fumihiko

1988-01-01

High resolution CT scanning of the temporal bone in our clinic has provided a more detailed radiological classification of inner ear anomalies than before. The statistical analysis of inner ear malformations based on the theory of quantification II has produced discriminant equations for the measurable diagnosis of hearing impairment and development of the inner ear. This analysis may make it possible to diagnose total and partial deafness on ipsi- and contralateral sides. (author)

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

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......, and whether any increase was greater during the 2009 pandemic than during other seasons. METHODS: We performed an ecologic time series analysis based on 26,967 pregnancies with nonchromosomal congenital anomaly conceived from January 2007 to March 2011, reported by 15 EUROCAT registries. Analysis...... and tricuspid atresia and stenosis during pandemic influenza season 2009, but not during 2007-2011 influenza seasons. For congenital anomalies, where there was no prior hypothesis, the prevalence of tetralogy of Fallot was strongly reduced during influenza seasons. CONCLUSIONS: Our data do not suggest...

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

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.)

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.

Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt.

Science.gov (United States)

Ali, Ahmed Ali Abdelrahim

2018-01-01

Median cleft deformities of the lower lip and mandible are very rare congenital anomalies. Our patient had median cleft of the lower lip, mandible, and the chin with tongue duplication, ankyloglossia, and cleft strap muscles with 2 neck contracture bands. This anomaly was associated with congenital heart disease transposition of great vessels, large ventricular septal defect, and severe pulmonary stenosis. Early repair was done at 6 months to improve feeding.

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

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

BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. Despite known associations between different anomalies, current surveillance methods examine trends within each subgroup separately. We aimed to evaluate whether hierarchical statistical methods that c...

Congenital anomalies in children exposed to antithyroid drugs in-utero: a meta-analysis of cohort studies.

Directory of Open Access Journals (Sweden)

Huixia Li

Full Text Available Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs. However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero.Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs and confidence intervals (CIs for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I2 tests.Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU, methimazole/carbimazole (MMI/CMZ, and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42, 1.64 (95%CI: 1.39-1.92, and 1.83 (95%CI: 1.30-2.56 for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively.The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly.

Congenital Anomalies in Children Exposed to Antithyroid Drugs In-Utero: A Meta-Analysis of Cohort Studies

Science.gov (United States)

Luo, Jiayou; Zeng, Rong; Feng, Na; Zhu, Na; Feng, Qi

2015-01-01

Background Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs). However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero. Methods Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs) and confidence intervals (CIs) for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I 2 tests. Results Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU), methimazole/carbimazole (MMI/CMZ), and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42), 1.64 (95%CI: 1.39-1.92), and 1.83 (95%CI: 1.30-2.56) for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively. Conclusions The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly. PMID:25974033

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

Partial duplication of head--a rare congenital anomaly.

Science.gov (United States)

Hemachandran, Manikkapurath; Radotra, Bishan Dass

2004-10-01

Duplication of notochord results in rare congenital anomalies like double headed monsters, with or without trunk/limb duplication, depending upon the extent of notochordal abnormality. Here we describe the morphological abnormalities in a case of partial duplication of cranial structures with fusion of the two. Autopsy findings suggest that the bifurcation of the neural tube took place around 4th to 6th week of gestation. There are only few reports in English literature describing the autopsy findings of such an anomaly, which is termed as Diprosopus triophthalmus in the modern literature.

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.

Interventional treatment of common congenital heart diseases: the common view of Chinese medical experts. Part Five-transcatheter intervention for the treatment of compound congenital cardiac anomalies

International Nuclear Information System (INIS)

Committee on Congenital Heart Diseases, Internal Medicine Branch of Cadiovascular Diseases of China Physicians' Association

2011-01-01

Compound congenital cardiac anomalies refer to two or more congenital cardiovascular defects coexisting in the same patient. Transcatheter intervention for compound congenital cardiac anomalies has got satisfactory results in recent years. However, the percutaneous closure procedure used for compound congenital cardiac defects does not mean the simple addition of single interventional technique. Clinically, it needs more specialist expertise to deal with such complex defects. This chapter will briefly describe the pathophysiology and clinical features of the following compound congenital cardiac anomalies: the ventricular septal defect (VSD) with coexistence of atrial septal defect (ASD), patent ductus arteriosus (PDA) or pulmonary valve stenosis (PS), the ASD coexistence of PDA, PS or mitral stenosis (Lutembacher's syndrome), and coarctation of aorta compound with PDA. The indications and contraindications, the therapeutic principles, the matters needing attention, the postoperative management, the judgment of curative effect, etc. of using transcatheter for the treatment of such compound anomalies will also be discussed. (authors)

Interventional treatment of common congenital heart diseases: the common view of Chinese medical experts. Part Five-transcatheter intervention for the treatment of compound congenital cardiac anomalies

Energy Technology Data Exchange (ETDEWEB)

Committee on Congenital Heart Diseases, Internal Medicine Branch of Cadiovascular Diseases of China Physicians' Association

2011-05-15

Compound congenital cardiac anomalies refer to two or more congenital cardiovascular defects coexisting in the same patient. Transcatheter intervention for compound congenital cardiac anomalies has got satisfactory results in recent years. However, the percutaneous closure procedure used for compound congenital cardiac defects does not mean the simple addition of single interventional technique. Clinically, it needs more specialist expertise to deal with such complex defects. This chapter will briefly describe the pathophysiology and clinical features of the following compound congenital cardiac anomalies: the ventricular septal defect (VSD) with coexistence of atrial septal defect (ASD), patent ductus arteriosus (PDA) or pulmonary valve stenosis (PS), the ASD coexistence of PDA, PS or mitral stenosis (Lutembacher's syndrome), and coarctation of aorta compound with PDA. The indications and contraindications, the therapeutic principles, the matters needing attention, the postoperative management, the judgment of curative effect, etc. of using transcatheter for the treatment of such compound anomalies will also be discussed. (authors)

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.

[Congenital anomalies of cerebral artery and intracranial aneurysm].

Science.gov (United States)

Nakajima, K; Ito, Z; Hen, R; Uemura, K; Matsuoka, S

1976-02-01

It is well known that congenital anomalies such as polycystic kidney, aortic coarctation, Marfan syndrome, Ehler-Danlos syndrome are apt to be complicated by intracranial aneurysms. In this report we attempt to reveal the relation and incidence between cerebrovascular anomalies and intracranial aneurysms. The etiology of aneurysms has been discussed, too. 12 cases of persistent trigeminl artery, 2 cases of persistent hypoglossal artery and 11 cases of fenestration were obtained from 3841 patients who were angiographically examined in our clinic for 5 years. The incidence is 0.31%, 0.05% and 0.29%, respectively. Persistent trigeminal arteries were complicated by 2 cases of intracranial aneurysms and one case of arterivenous malformations (AVM), persistent hypoglossal arteries were complicated by one case of aneurysm, and fenestrations were complicated by 2 cases of aneurysms and one case of AVM. One case of congenital agenesis of right internal carotid artery was obtained which was complicated by aneurysm of anterior communicating artery. Totally, 8 cases of aneurysms and AVM were obtained from 26 cases of cerebrovascular anomalies (incidence 30.8%). On the other hand, thalamic or caudate hemorrhage revealed the highest incidence of complication of intracranial aneurysms among intracerebral hematomas (10.7%). Compared with the incidence of aneurysms between cerebro vascular anomalies (30.8%) and thalamic or caudate hemorrhage (10.7%), the difference is statistically signigicant (P less than 0.05). The cause of intracranial aneurysm has not yet been clarified. But it is well accepted that the defect of tunica media vasorum is most responsible factor as to the occurrence of intracranial aneurysms. We concluded that the genetic error of cerebral vessels including defect of media caused intracranial aneurysms, and this result was supported from the evidence that cerebrovascular anomalies showed statistically high incidence of complication of intracranial aneurysms.

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

African Journals Online (AJOL)

hypospadias the commonest urogenital anomalies (Table VI). The incidence of cleft lip/palate was only 0,23 per 1 000. Iivebirths (Table V). The integumentary conditions seen included congenital ichthyosis, epidermolysis bullosa, both disorders of. Mendelian inheritance, an unclassifiable bullous dermatitis and a naevus.

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.)

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

International Nuclear Information System (INIS)

Dong, Su-Zhen; Zhu, Ming

2015-01-01

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.)

Impact of parental ages and other characteristics at childbearing on congenital anomalies: Results for the Czech Republic, 2000-2007

Directory of Open Access Journals (Sweden)

Jitka Rychtarikova

2013-01-01

Full Text Available BACKGROUND If the impact of maternal age at childbearing on congenital anomalies is well-known for the occurrence of Down syndrome, less is known concerning its effects on other major anomalies. Information is even scarcer for the possible effects of other maternal characteristics and of age of the father. OBJECTIVE We present new results on the associations between parental ages and other maternal characteristics, on the one hand, and congenital anomalies, on the other hand, using data linkage between three Czech registries on mother, newborn, and malformations, for the period 2000-2007. METHODS As the variables are in categorical format, binary logistic regression is used in order to investigate the relationship between presence/absence of a congenital anomaly, for each of the eleven types of anomalies considered, and the set of predictors. RESULTS This research confirms the impact of a higher age of the mother on Down syndrome and on other chromosomal anomalies. Paternal age is not associated with chromosomal anomalies and, in this Czech population, has a rather slight effect on some of the congenital anomalies examined. Another finding of the present study is the possible role of various other maternal characteristics on congenital malformations. CONCLUSIONS Based on a large data set, this study concludes that both parental ages can be associated with congenital anomalies of the child, and that maternal characteristics other than age have also to be considered. COMMENTS Risk factors can be tentatively proposed if they are based on a plausible and suitably tested explanatory mechanism. Unfortunately, in the majority of individual cases of congenital anomaly, the cause of the condition is still unknown and suspected to be an interaction of multiple environmental and genetic factors.

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

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

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 anomal...

Congenital anomalies: 15 years of experience in a level III hospital

Directory of Open Access Journals (Sweden)

Carolina Félix

2017-01-01

Full Text Available Background: Congenital anomalies (CAs are a leading cause of fetal and infant mortality and morbidity worldwide. They may be identified prenatally, at the moment of birth or later in life.Purpose: To describe the cases of CAs registered over the last 15 years at a level III hospital, comparing individuals who were detected through prenatal (preN diagnosis with those detected through postnatal (postN diagnosis.Methods: All records were collected from the Registo Nacional de Anomalias Congénitas (RENAC online platform between 1st January 2000 to 31st December 2014, in a level III hospital, where cases of CAs were notified voluntarily (n = 1,222. We tested differences for selected variables between the years in study. A multivariate analysis was performed to identify potential factors associated to preN diagnosis.Results: We observed a total of 1,510 anomalies, being 493 (40.3% circulatory, 252 (20.6% chromosomal, 187 (15.3% musculoskeletal, 138 (11.3% digestive, 133 (10.9% urinary, 117 (9.6% nervous, 37 (3.0% respiratory, 35 (2.9% genital, 25 (2% anomalies of the eye, ear, face and neck, 20 (1.6% cleft lip/cleft palate and 73 (6.0% others. Time of diagnosis was known for all subjects: 770 (63.0% were diagnosed prenatally and 452 (37.0% were diagnosed at birth or during the first month of life. We found statistically significant differences between groups for several variables. Assisted reproduction techniques (p = 0.023, maternal medications during the first trimester of pregnancy (p = 0.004 and the number of anomalies per individual (p ≤ 0.001 had a statistically significant impact on receiving preN diagnosis.Conclusion: Our data confirm the importance of both RENAC national database and preN diagnosis in improving perinatal healthcare. However, in order to determine the national prevalence of CAs and understand any involved factors, it is desirable to enhance the notification in the whole country, facilitating the adjustment of national

Congenital anomalies of the spine and spinal cord

International Nuclear Information System (INIS)

Altman, N.R.; McLone, D.G.; Naidich, T.P.; Zimmerman, R.A.; Raybaud, C.A.

1991-01-01

In the spine, the most common congenital lesions presenting to medical attention are the diverse forms of spinal dysraphism and the diverse forms of caudal spinal anomalies. Most commonly, these conditions are discovered at birth or in early childhood. Less commonly, they first present to medical attention in adulthood. Widespread use of magnetic resonance imaging (MRI) is expected to reduce the incidence of delayed diagnosis of the dysraphisms and the other spinal malformations. This paper addresses the most common forms of dysraphism and the most common caudal spinal anomalies. It provides an overview of embryology for orientation and then groups the anomalies in terms of the specific derangements of embryology that are believed to give rise to the anomalies. It is hoped that this approach will provide greater understanding of these lesions and better long-term retention of information about them. A conceptual framework of embryology and pathogenesis may eliminate the need for rote memorization; certainly it is a more satisfying approach intellectually

From diagnosis to birth: parents' experience when expecting a child with congenital anomaly.

Science.gov (United States)

Askelsdóttir, Björk; Conroy, Sherrill; Rempel, Gwen

2008-12-01

Of 350,000 Canadian children born each year, 2% to 3% will have a serious congenital anomaly. Because of recent ultrasound diagnostic improvements and increased frequency of prenatal scans, many anomalies are determined prenatally, with more parents receiving disturbing, unanticipated news of an anomaly. This article highlights the experiences, concerns, and healthcare needs of parents who receive a prenatal diagnosis of congenital anomaly during routine ultrasound and choose to continue with the pregnancy. Examples from parent interviews describing their experience complement the sparse literature dealing with this phenomenon. Parents describe their experience from antenatal diagnosis and preparation for the child's birth and subsequent admission to the neonatal intensive care unit. Attention is paid to how neonatal nurses can positively influence this process by attending to parents' feelings or moods. The conclusion includes recommendations for neonatal nursing care for these vulnerable parents.

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

BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010. METHODS: EUROCAT implemented a computer algorithm f...

MR imaging features of the congenital uterine anomalies

International Nuclear Information System (INIS)

Hamcan, S.; Akgun, V.; Battal, B.; Kocaoglu, M.

2012-01-01

Full text: Introduction: Congenital uterine anomalies are common and usually asymptomatic. The agenesis, malfusion or deficient resorption of the Mullerian canals during embryogenesis may lead to these anomalies. Although ultrasonography (US) is the first step imaging technique in assessment of the uterine pathologies, it can be insufficient in differentiation of them. Magnetic resonance (MR) imaging is an adequate imaging technique in depicting pelvic anatomy and different types of uterine anomalies. Objectives and tasks: In this article, we aimed to present imaging features of the uterine anomalies. Material and methods: Pelvic MR scans of the cases who were referred to our radiology department for suspicious uterine anomaly were evaluated retrospectively. Results: We determined uniconuate uterus (type II), uterus didelphys (type III), bicornuate uterus (type IV), uterine septum (type V) and arcuate uterus (type VI) anomalies according to ASRM (American Society of Reproductive Medicine) classification. Conclusion: In cases with such pathologies leading to obstruction, dysmenorrhea or palpable pelvic mass in the puberty are the main clinical presentations. In cases without obstruction, infertility or multiple abortions can be encountered in reproductive ages. The identification of the subtype of the uterine anomalies is important for the preoperative planning of the management. MR that has multiplanar imaging capability and high soft tissue resolution is a non-invasive and the most important imaging modality for the detection and classification of the uterine anomalies

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

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

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.

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

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.

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

African Journals Online (AJOL)

A. Bhat

2016-07-18

Jul 18, 2016 ... borns' birth weight and gestational age, the maternal age, parity and infertility treatment, ... has shown birth prevalence of congenital anomalies to vary sig- ... leading cause of fetal death, as well as of childhood and adult mor- ... Neonates ... dent factors predictive of reproductive disorders, with a p value.

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

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.

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

Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers : A EUROmediCAT Study

NARCIS (Netherlands)

de Jonge, Linda; Garne, Ester; Gini, Rosa; Jordan, Susan E.; Klungsoyr, Kari; Loane, Maria; Neville, Amanda J.; Pierini, Anna; Puccini, Aurora; Thayer, Daniel S.; Tucker, David; Hansen, Anne Vinkel; Bakker, Marian K.

2015-01-01

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 databases. Linkage of

[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.

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

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.

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.

Hypospadiac Duplication of Anterior Urethra-a Rare Congenital Anomaly.

Science.gov (United States)

Goyal, Bhawana; Gupta, Suresh; Goyal, Parag

2017-02-01

Duplication of the urethra is a complex and rarely seen congenital anomaly with three anatomic variants: epispadiac (dorsal), hypospadiac (ventral), and Y-type. We report here a case of hypospadiac duplication of anterior urethra with dorsal blind ending urethra in a 9-year-old boy who presented with complaint of passing urine from the ventral aspect of penis.

First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma.

Science.gov (United States)

Abdollahi Fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

2014-10-01

First branchial cleft anomalies manifest with duplication of the external auditory canal. 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. It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear.

Congenital renal anomalies in cloacal exstrophy: Is there a difference?

Science.gov (United States)

Suson, K D; Inouye, B; Carl, A; Gearhart, J P

2016-08-01

Cloacal exstrophy (CE) is the most severe manifestation of the epispadias-exstrophy spectrum. Previous studies have indicated an increased rate of renal anomalies in children with classic bladder exstrophy (CBE). Given the increased severity of the CE defect, it was hypothesized that there would be an even greater incidence among these children. The primary objective was to characterize renal anatomy in CE patients. Two secondary objectives were to compare these renal anatomic findings in male and female patients, and female patients with and without Müllerian anomalies. An Institutional Review Board-approved retrospective review of 75 patients from an institutional exstrophy database. Data points included: age at analysis, sex, and renal and Müllerian anatomy. Abnormal renal anatomy was defined as a solitary kidney, malrotation, renal ectopia, congenital cysts, duplication, and/or proven obstruction. Abnormal Müllerian anatomy was defined as uterine or vaginal duplication, obstruction, and/or absence. The Summary Table presents demographic data and renal anomalies. Males were more likely to have renal anomalies. Müllerian anomalies were present in 65.7% of female patients. Girls with abnormal Müllerian anatomy were 10 times more likely to have renal anomalies than those with normal Müllerian anatomy (95% CI 1.1-91.4, P = 0.027). Patients with CE had a much higher rate of renal anomalies than that reported for CBE. Males and females with Müllerian anomalies were at greater risk than females with normal uterine structures. Mesonephric and Müllerian duct interaction is required for uterine structures to develop normally. It has been proposed that women with both Müllerian and renal anomalies be classified separately from other uterine malformations on an embryonic basis. In these patients, an absent or dysfunctional mesonephric duct has been implicated as potentially causal. This provided an embryonic explanation for uterine anomalies in female CE patients

Computer based extraction of phenoptypic features of human congenital anomalies from the digital literature with natural language processing techniques.

Science.gov (United States)

Karakülah, Gökhan; Dicle, Oğuz; Koşaner, Ozgün; Suner, Aslı; Birant, Çağdaş Can; Berber, Tolga; Canbek, Sezin

2014-01-01

The lack of laboratory tests for the diagnosis of most of the congenital anomalies renders the physical examination of the case crucial for the diagnosis of the anomaly; and the cases in the diagnostic phase are mostly being evaluated in the light of the literature knowledge. In this respect, for accurate diagnosis, ,it is of great importance to provide the decision maker with decision support by presenting the literature knowledge about a particular case. Here, we demonstrated a methodology for automated scanning and determining of the phenotypic features from the case reports related to congenital anomalies in the literature with text and natural language processing methods, and we created a framework of an information source for a potential diagnostic decision support system for congenital anomalies.

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

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.)

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.

Coronary artery anomalies and clinically important anatomy in patients with congenital heart disease: multislice CT findings

International Nuclear Information System (INIS)

Goo, Hyun Woo; Seo, Dong-Man; Yun, Tae-Jin; Park, Jeong-Jun; Park, In-Sook; Ko, Jae Kon; Kim, Young Hwee

2009-01-01

In patients with congenital heart disease, coronary artery anomalies are common and have different clinical importance from individuals with structurally normal hearts. Visibility of the coronary arteries by CT has markedly improved due to high temporal resolution and ECG-synchronized data acquisition. In this article we describe current multislice CT techniques for coronary artery imaging and illustrate coronary artery anomalies and clinically important coronary artery anatomy from the point of view of congenital heart disease. (orig.)

Coronary artery anomalies and clinically important anatomy in patients with congenital heart disease: multislice CT findings

Energy Technology Data Exchange (ETDEWEB)

Goo, Hyun Woo [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea); Seo, Dong-Man; Yun, Tae-Jin; Park, Jeong-Jun [University of Ulsan College of Medicine, Department of Pediatric Cardiac Surgery, Asan Medical Center, Seoul (Korea); Park, In-Sook; Ko, Jae Kon; Kim, Young Hwee [University of Ulsan College of Medicine, Department of Pediatric Cardiology, Asan Medical Center, Seoul (Korea)

2009-03-15

In patients with congenital heart disease, coronary artery anomalies are common and have different clinical importance from individuals with structurally normal hearts. Visibility of the coronary arteries by CT has markedly improved due to high temporal resolution and ECG-synchronized data acquisition. In this article we describe current multislice CT techniques for coronary artery imaging and illustrate coronary artery anomalies and clinically important coronary artery anatomy from the point of view of congenital heart disease. (orig.)

First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

Science.gov (United States)

Abdollahi fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

2014-01-01

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. PMID:25320705

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.

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

African Journals Online (AJOL)

Tella Sunitha

2016-05-14

May 14, 2016 ... genital malformations cannot be linked to a specific cause. BOH implies ... results were interpreted on the basis of Immune Status Ratio. (ISR) index ... lar System disorders [atrial and ventricular septal defects, pericardial .... Family H/o congenital anomalies/mental retardation/genetic diseases. Yes. 36(10).

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...

Use of asthma medication during pregnancy and risk of specific congenital anomalies

DEFF Research Database (Denmark)

Garne, Ester; Hansen, Anne Vinkel; Morris, Joan

2015-01-01

BACKGROUND: Pregnant women with asthma need to take medication during pregnancy. OBJECTIVE: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy. METHODS: We performed a population-bas...

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

DEFF Research Database (Denmark)

Wemakor, A.; Casson, K.; Garne, E.

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...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy......% confidence intervals (CI) were calculated adjusted for registry. Results SSRI use in first trimester pregnancy was associated with CHD overall (OR 1.38, 95 % CI 1.05-1.82, n=109); and with severe CHDs (OR 1.56, 95 % CI 1.03-2.38, n=29). Specific associations between SSRI and Tetralogy of Fallot (OR 3.36, 95...

Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

Science.gov (United States)

Nef, Samuel; Neuhaus, Thomas J; Spartà, Giuseppina; Weitz, Marcus; Buder, Kathrin; Wisser, Josef; Gobet, Rita; Willi, Ulrich; Laube, Guido F

2016-05-01

Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function. The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome. • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney

Low-set ears and pinna abnormalities

Science.gov (United States)

Low-set ears; Microtia; "Lop" ear; Pinna abnormalities; Genetic defect - pinna; Congenital defect - pinna ... conditions: Abnormal folds or location of the pinna Low-set ears No opening to the ear canal ...

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.

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.

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.

Horseshoe lung with multiple congenital anomalies

International Nuclear Information System (INIS)

Hawass, N.D.; Badawi, M.G.; Fatani, J.A.; Meshari, A.A.; Edrees, Y.B.

1987-01-01

A detailed radiologic and anatomic study of a 20-week old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed. (orig.)

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.

Experience of diagnosis of congenital arterial anomaly in a child with bronchial obstruction: clinical case and summary

Directory of Open Access Journals (Sweden)

L.V. Besh

2017-08-01

Full Text Available Congenital anomalies of the aortic arch are a large group of cardiovascular anomalies. Some of them are isolated; others are associated with congenital heart defects or genetic syndromes. There can be different clinical manifestations of these anomalies — from silent forms (accidentally discovered in the examination to a critical circulatory disturbance, requiring surgical intervention in the first hours after the birth of the baby. The article describes clinical search of double aortic arch in a child and successful surgical treatment of this anomaly. This congenital defect of the aorta usually causes the greatest compression of airways compared to other vascular abnormalities. Double aortic arch develops due to absence of involution of distal IV right aortic arch. As a result, two IV arches keep on developing and join together in the left-sided descending thoracic aorta, thus surrounding the trachea and esophagus. Smaller of the two arches is often subjected to atresia, but it is still connected to the descending aorta, creating a complete vascular ring. As a double aortic arch pressures on the trachea and esophagus, it can cause airway obstruction and dysphagia in a patient. Therapeutic tactic depends on the intensity of symptoms, presence of concomitant anomalies or diseases, and many additional factors, which are analyzed and considered within the council of physicians of different specialties.

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

2014-02-05

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.

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.

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.

Extra Lobes of Liver and Congenital Anomalies of Diaphragm in Children

Directory of Open Access Journals (Sweden)

I.P. Zhurylo

2014-09-01

Full Text Available The literature data on hepatic congenital anomalies in children are summarized in this article. Three clinical observations of transposition of extra lobe of the liver (ELL into the thoracic cavity in children were analyzed. The true diaphragmatic hernia was found in all cases. Clinical manifestations of this disease depend on the severity of the compression of mediastinum organs. Indications for surgical correction were determined individually. ELL move into the abdominal cavity, excision of the hernia sac and alloplasty of the diaphragmatic defect were performed for one patient. Possible mechanisms for the formation of these complex congenital malformations were discussed based on the comparison of clinical data with the stages of embryogenesis liver, diaphragm and heart.

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....

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

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

MRI in the assessment of congenital vaginal anomalies

International Nuclear Information System (INIS)

Humphries, P.D.; Simpson, J.C.; Creighton, S.M.; Hall-Craggs, M.A.

2008-01-01

Aim: To assess accuracy of magnetic resonance imaging (MRI) for the delineation of morphological abnormalities of the vagina in patients with congenital anomalies of the genito-urinary tract. Materials and methods: Fifty-one patients (median age 19 years; range 12-40 years) were studied. All were consecutively referred for MRI to assess genital tract anatomy, between 1996 and 2004, from a clinic specializing in congenital abnormalities of the urogenital tract. All patients were assessed clinically and underwent MRI. Images were reviewed retrospectively by an experienced radiologist. Where there was discordance between clinical and radiological findings a consensus diagnosis was achieved by the gynaecologists and radiologists reviewing all of the clinical and radiological evidence together, including assessment of vaginal length. Results: The clinical data were incomplete for five women and the images non-diagnostic in two cases; consequently, 44 of 51 women had complete datasets and could be evaluated. Vaginas were abnormal in 30 of the 44 patients. There was discordance between the clinical and imaging findings at the initial review in three of the 44 cases (6.8%). After consensus review, and with the inclusion of measurement of the vaginal length on MRI, the MRI and clinical findings were concordant in all cases. The initial discordance was due to two vaginal dimples not being appreciated on MRI and one case in which presence of vaginal tissue proximal to a mid-segment obstruction was not appreciated clinically. Conclusion: MRI is an accurate method of imaging vaginal anomalies. However, to achieve reliable results the radiologist requires details of previous surgery and the vaginal length must be measured

MRI in the assessment of congenital vaginal anomalies

Energy Technology Data Exchange (ETDEWEB)

Humphries, P.D. [Department of Radiology, University College Hospital, London (United Kingdom); Simpson, J.C.; Creighton, S.M. [Department of Obstetrics and Gynaecology, University College Hospital, London (United Kingdom); Hall-Craggs, M.A. [Department of Radiology, University College Hospital, London (United Kingdom)], E-mail: margaret.hall-craggs@uclh.nhs.uk

2008-04-15

Aim: To assess accuracy of magnetic resonance imaging (MRI) for the delineation of morphological abnormalities of the vagina in patients with congenital anomalies of the genito-urinary tract. Materials and methods: Fifty-one patients (median age 19 years; range 12-40 years) were studied. All were consecutively referred for MRI to assess genital tract anatomy, between 1996 and 2004, from a clinic specializing in congenital abnormalities of the urogenital tract. All patients were assessed clinically and underwent MRI. Images were reviewed retrospectively by an experienced radiologist. Where there was discordance between clinical and radiological findings a consensus diagnosis was achieved by the gynaecologists and radiologists reviewing all of the clinical and radiological evidence together, including assessment of vaginal length. Results: The clinical data were incomplete for five women and the images non-diagnostic in two cases; consequently, 44 of 51 women had complete datasets and could be evaluated. Vaginas were abnormal in 30 of the 44 patients. There was discordance between the clinical and imaging findings at the initial review in three of the 44 cases (6.8%). After consensus review, and with the inclusion of measurement of the vaginal length on MRI, the MRI and clinical findings were concordant in all cases. The initial discordance was due to two vaginal dimples not being appreciated on MRI and one case in which presence of vaginal tissue proximal to a mid-segment obstruction was not appreciated clinically. Conclusion: MRI is an accurate method of imaging vaginal anomalies. However, to achieve reliable results the radiologist requires details of previous surgery and the vaginal length must be measured.

Impact of congenital anomalies and treatment location on the outcomes of infants hospitalized with herpes simplex virus (HSV).

Science.gov (United States)

Lorch, Scott A; Millman, Andrea M; Shah, Samir S

2010-03-01

Herpes simplex virus (HSV) is a rare but costly reason for hospitalization in infants under 60 days of age. The impact of coexisting comorbid conditions and treatment location on hospital outcome is poorly understood. Determine patient and hospital factors associated with poor outcomes or death in infants hospitalized with HSV. : Retrospective cohort study using the 2003 Kids' Inpatient Database (KID). U.S. hospitals. Infants under 60 days of age with a diagnosis of HSV. Treatment at different types of hospitals, younger age at admission, and presence of congenital anomalies. Serious complications, in-hospital death. A total of 10% of the 1587 identified HSV hospitalizations had a concurrent congenital anomaly. A total of 267 infants had a serious complication and 50 died. After controlling for clinical and hospital characteristics, concurrent congenital anomalies were associated with higher odds of a serious complication (adjusted odds ratio [OR], 3.34; 95% confidence interval [CI], 2.00-5.56) and higher odds of death (adjusted OR, 4.17; 95% CI, 1.74-10.0). Similar results were found for infants admitted under 7 days of age. Although different hospital types had statistically similar clinical outcomes after controlling for case-mix differences, treatment at a children's hospital was associated with an 18% reduction in length of stay (LOS). Infants with concurrent congenital anomalies infected with HSV were at increased risk for serious complications or death. Health resource use may be improved through identification and adoption of care practiced at children's hospitals.

Scintigraphic evaluation of congenital anomalies of the thyroid gland

International Nuclear Information System (INIS)

Paul, A. K.; Hassan, M.A.; Miah, M.S.R.

2001-01-01

Total 2287 patients who undergone thyroid scintigraphy in Nuclear Medicine Centre, Khulna from January 1998 to December 2000 were retrospectively studied to evaluate the congenital anomalies of the thyroid gland. Scintigraphy showed thyroid anomalies in 11 patients (0.48%). The presenting features and thyroid function tests were analyzed and a detailed study was performed. Of these 11 cases, 7 patients (63.6%) had ectopic thyroid gland and site of ectopic was found to be lingual in 4 cases, sublingual in 2 cases and pre laryngeal in 1 case, 3 patients (27.3%) with hemi agenesis of thyroid and 1 patient (9.1%) with athyreosis. Biochemically 3 cases were hypothyroid of which 2 had ectopic thyroid and 1 with athyreosis. 1 patient was hyperthyroid with hemi agenesis of thyroid and 7 were euthyroid. Females were more affected than males, the ratio being 4.5:1. (authors) 2 tabs. 12 refs

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...

Patent Ductus Arteriosus Associated with Congenital Anomaly of Coronary Artery

OpenAIRE

Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

2013-01-01

We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echoca...

Prenatal screening for congenital anomalies: exploring midwives' perceptions of counseling clients with religious backgrounds.

Science.gov (United States)

Gitsels-van der Wal, Janneke T; Manniën, Judith; Gitsels, Lisanne A; Reinders, Hans S; Verhoeven, Pieternel S; Ghaly, Mohammed M; Klomp, Trudy; Hutton, Eileen K

2014-07-19

In the Netherlands, prenatal screening follows an opting in system and comprises two non-invasive tests: the combined test to screen for trisomy 21 at 12 weeks of gestation and the fetal anomaly scan to detect structural anomalies at 20 weeks. Midwives counsel about prenatal screening tests for congenital anomalies and they are increasingly having to counsel women from religious backgrounds beyond their experience. This study assessed midwives' perceptions and practices regarding taking client's religious backgrounds into account during counseling. As Islam is the commonest non-western religion, we were particularly interested in midwives' knowledge of whether pregnancy termination is allowed in Islam. This exploratory study is part of the DELIVER study, which evaluated primary care midwifery in The Netherlands between September 2009 and January 2011. A questionnaire was sent to all 108 midwives of the twenty practices participating in the study. Of 98 respondents (response rate 92%), 68 (69%) said they took account of the client's religion. The two main reasons for not doing so were that religion was considered irrelevant in the decision-making process and that it should be up to clients to initiate such discussions. Midwives' own religious backgrounds were independent of whether they paid attention to the clients' religious backgrounds. Eighty midwives (82%) said they did not counsel Muslim women differently from other women. Although midwives with relatively many Muslim clients had more knowledge of Islamic attitudes to terminating pregnancy in general than midwives with relatively fewer Muslim clients, the specific knowledge of termination regarding trisomy 21 and other congenital anomalies was limited in both groups. While many midwives took client's religion into account, few knew much about Islamic beliefs on prenatal screening for congenital anomalies. Midwives identified a need for additional education. To meet the needs of the changing client population

Multiple caeco-appendiceal fistulas and diverticulosis: a newly defined congenital anomaly of the appendix-report of the first case.

Science.gov (United States)

Yucel, Ahmet Fikret; Pergel, Ahmet; Kocakusak, Ahmet; Aydin, Ibrahim; Bagci, Pelin; Sahin, Dursun Ali

2011-11-01

Congenital anomalies of the appendix are extremely rare. They are usually found incidentally during operations other than appendectomies. Congenital appendix diverticula are even less frequent. Congenital caeco-appendiceal fistulae have not been reported until today. Herein, we present real diverticula of the appendix with multiple caeco-appendiceal fistulae which, to our knowledge, is the first in the literature.

Decision-making on terminating pregnancy for Muslim Arab women pregnant with fetuses with congenital anomalies: maternal affect and doctor-patient communication.

Science.gov (United States)

Gesser-Edelsburg, Anat; Shahbari, Nour Abed Elhadi

2017-04-04

This study focused on decision-making on terminating pregnancy for Arab Muslim women in Israel who were pregnant with fetuses diagnosed with congenital anomalies. It examined the impact of the doctor-patient interaction on the women's decision, especially in light of social and religious pressures not to terminate under any circumstances. Our goal was to identify perceptions and attitudes of Muslim Arab women who choose to continue their pregnancy following the detection of congenital anomalies in prenatal tests. Specific objectives included (1) To examine the Muslim Arab women's perceptions on genetic testing, and ascertain the reasons for their decision to continue the pregnancy following the detection of a congenital anomaly in the fetus; and (2) To examine risk communication of gynecologists regarding genetic testing and abortions, and regarding the decision of continuing or terminating a pregnancy following detection of a congenital anomaly. The research framework used the constructivist classical qualitative method to understand the experience of women at high risk for congenital anomalies and their experience of how doctors communicate the risk. It showed that the emotional element is no less dominant than religious and social elements. The findings emphasized the disparities between doctors and women regarding emotional involvement (non-directive counselling). The women interviewees (N = 24) felt that this expressed insensitivity. As far as we know, the emotional component has not been raised in previous studies of Muslim women at high risk for congenital defects in their fetus, and therefore comprises a significant contribution of the present study. To mitigate gaps, doctors should take affect into consideration in their communication with patients. It is important for doctors to understand the emotional element in risk communication, both in how they respect women's emotions and in creating an emotional interaction between themselves and the women.

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...... 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). CONCLUSIONS: Residential...... road traffic exposure to noise or air pollution during pregnancy did not seem to pose a risk for development of congenital anomalies....

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.

Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly

Directory of Open Access Journals (Sweden)

Arshad Bhat, MBBS, DMRD

2016-06-01

Full Text Available Three case reports of a rare congenital anomaly “limb-body wall complex” also known as “body stalk syndrome” are presented with prenatal ultrasonographic diagnostic features, immediate after delivery evaluation, and histopathologic analysis.

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.

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. 

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)

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.

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.

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.

Congenital anomalies of the urinary tract.

Science.gov (United States)

Pohl, Hans G; Belman, A Barry

2014-01-01

The upper urinary tract forms as a consequence of the reciprocal inductive signals between the metanephric mesenchyme and ureteric bud. A clue to the timing of events leading to an abnormality of the upper urinary tract can be the presence also of associated anomalies of internal genitalia since separation of these systems occurs at about the 10th week of gestation. Prenatal sonography has facilitated the detection of urological abnormalities presenting with hydronephrosis. Hydronephrosis suggests obstruction, but by itself cannot be equated with it. Instead, further radiographic imaging is required to delineate anatomy and function. Now, moreover, non-surgical management of CAKUT should be considered whenever possible. Despite the widespread use of prenatal screening sonography that usually identifies the majority of congenital anomalies of the urinary tract, many children still present with febrile urinary tract infection (UTI). Regardless of the etiology for the presentation, the goal of management is preservation of renal function through mitigation of the risk for recurrent UTI and/or obstruction. In the past many children underwent surgical repair aimed at normalization of the appearance of the urinary tract. Today, management has evolved such that in most cases surgical reconstruction is performed only after a period of observation - with or without urinary prophylaxis. The opinions presented in this section are not espoused by all pediatric urologists but represent instead the practice that has evolved at Children's National Medical Center (Washington DC) based significantly on information obtained by nuclear renography, in addition to sonography and contrast cystography.

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

Science.gov (United States)

Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

2012-12-01

Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

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

International Nuclear Information System (INIS)

Gerety, E.L.; Hopper, M.A.; Grant, I.

2015-01-01

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.)

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.)

A Study of Maternal Attachment among Mothers of Infants with Congenital Anomalies in Turkey

Science.gov (United States)

Ylmaz, Hatice Bal; Kavlak, Oya; Isler, Aysegul; Liman, Tulin; Van Sell, Sharon L.

2011-01-01

The purpose of this study was to investigate the factors that affect maternal attachment among mothers whose infants were born with congenital anomalies. A questionnaire was used to collect individual sociodemographic data, and the Maternal Attachment Inventory was used to collect information about the emotional attachment of mothers to infants…

Psychological impact of visible differences in patients with congenital craniofacial anomalies.

Science.gov (United States)

Singh, Varun Pratap; Moss, Timothy P

2015-01-01

Patients with craniofacial anomalies often have appearance concerns and related social anxiety which can affect their quality of life. This study assessed the psychological impact of facial and dental appearance in patients with craniofacial anomalies in comparison to a general population control group. The study involved 102 adult patients (51% male) with congenital craniofacial anomalies and 102 controls (49% male). Both groups completed the Nepali version of Derriford Appearance Scale (DAS) and the Psychological Impact of Dental Aesthetic Questionnaire (PIDAQ) in a clinical setting to assess appearance-related distress, avoidance, and anxiety. There was a significant difference between patients and controls on both PIDAQ (mean score for patients 33.25 ± 9.45 while for controls 27.52 ± 5.67, p experienced greater negative psychological impact of living with their appearance (PIDAQ) and more appearance-related distress (DAS) than controls. DAS scores were not associated with gender. There was no association of the place of residence (rural vs. urban) with PIDAQ or DAS59 scores. There is a significant psychological impact of altered facial and dental appearance in patients with craniofacial anomalies compared to controls. There was no effect of locality (rural/urban) on the psychological impact of facial and dental appearance in patients.

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.

Congenital coronary artery anomalies: diagnosis with 64 slice multidetector row computed tomography coronary angiography: A single Centre Study

International Nuclear Information System (INIS)

Srnivasan, K.G.; Gaikward, A.; Kannan, B.R.J.; Ritesh, K.; Ushanandini, K.P.

2008-01-01

Full text: Retrospective review of the congenital coronary artery (CA) anomalies detected by a 64-slice multidetector row computed tomographic (MDCT) angiography. The type of the anomaly, imaging characteristics, clinical relevance and the superiority of the MDCT over conventional coronary angiography are discussed. Multidetector row computed tomographic coronary angiography was carried out by the usual technique with 70 cc of non-ionic contrast agent and retrospective electrocardiogram gating. The volume data obtained were reconstructed in axial plane, along with volume-rendered three-dimensional reconstruction and virtual angioscopy in selected patients. The images were analysed by a radiologist, experienced in cardiac CT, and an experienced cardiologist. A retrospective review of the records was carried out, and subjects with congenital coronary anomalies were included in the study. Between 15 November 2005 and 27 February 2007, 1495 MDCT coronary angiograms were carried out. Eleven of them were found to have coronary anomalies. Five had absent left main CA. Two had interarterial course of the left main CA artery passing in between the right ventricular outflow tract and the root of aorta. In one patient, there was aberrant origin of right CA from the left aortic sinus with subsequent interarterial course and another one had aberrant origin of circumflex artery from the right aortic sinus. One patient each of congenitally absent circumflex artery and atresia of the right CA were found. Sixty-four slice MDCT coronary angiography provided accurate depiction of anomalous vessel origin and course along with the complex anatomical relation with the adjacent structures. CTcan be considered as a first-line imaging method for delineating coronary arterial anomalies.

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.

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.

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

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)

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

Science.gov (United States)

Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

2013-11-01

The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

Imaging of the inner ear

International Nuclear Information System (INIS)

Casselman, J.W.; Bensimon, J.L.

1997-01-01

New computed tomography (CT) and magnetic resonance (MR) techniques allow more detailed anatomic studies of the inner ear. CT is still the best technique to study patients with fractures, congenital malformations and otodystrophies involving the inner ear. During recent years MR imaging has emerged as an excellent method to detect pathology in the internal auditory canal, membranous labyrinth and bony labyrinth and to characterize petrous apex lesions. MR has even proved its value in patients with fractures and congenital malformations making the diagnosis of, for instance, labyrinthine concussion and absence of the vestibulocochlear nerve possible. The diagnosis of acute/chronic labyrinthitis and intralabyrinthine tumors has also became possible. However, MR and CT are often complementary, as is the case in patients with mixed hearing loss, congenital malformations and petrous apex lesions. (orig.) [de

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

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.

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.

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

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

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.

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

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.

The portal vein in children: radiological review of congenital anomalies and acquired abnormalities

Energy Technology Data Exchange (ETDEWEB)

Corness, Jonathan A.G.; McHugh, Kieran; Roebuck, Derek J. [Great Ormond Street Hospital for Children, Department of Radiology, London (United Kingdom); Taylor, Andrew M. [Institute of Child Health, Cardiothoracic Unit, London (United Kingdom)

2006-02-01

A variety of portal vein anomalies that occur in children can be identified by US, CT, MRI and portal venography. Although these abnormalities can also occur in adults, there are certain pathological processes and aberrations within the portal system that are specific to children. Knowledge of the embryology and anatomy of the portal vein is of benefit in the understanding of these anomalies. Identifying deviations from normal portal architecture is important in the work-up for surgery such as liver transplantation, and prior to interventional procedures such as stent placement or embolization. The aim of this paper is to summarize the various types of congenital and acquired portal vein abnormalities that occur in children, describe their radiological features and provide images to demonstrate the differences from normal portal venous anatomy. (orig.)

The portal vein in children: radiological review of congenital anomalies and acquired abnormalities

International Nuclear Information System (INIS)

Corness, Jonathan A.G.; McHugh, Kieran; Roebuck, Derek J.; Taylor, Andrew M.

2006-01-01

A variety of portal vein anomalies that occur in children can be identified by US, CT, MRI and portal venography. Although these abnormalities can also occur in adults, there are certain pathological processes and aberrations within the portal system that are specific to children. Knowledge of the embryology and anatomy of the portal vein is of benefit in the understanding of these anomalies. Identifying deviations from normal portal architecture is important in the work-up for surgery such as liver transplantation, and prior to interventional procedures such as stent placement or embolization. The aim of this paper is to summarize the various types of congenital and acquired portal vein abnormalities that occur in children, describe their radiological features and provide images to demonstrate the differences from normal portal venous anatomy. (orig.)

Generalized smooth muscle hamartoma with multiple congenital anomalies without the "Michelin tire baby" phenotype.

Science.gov (United States)

Janicke, Elise C; Nazareth, Michael R; Rothman, Ilene L

2014-01-01

We report a patient with generalized smooth muscle hamartoma who presented with many of the variety of congenital anomalies that have been reported in babies with multiple symmetric circumferential rings of folded skin known as Michelin tire baby (MTB) syndrome, but our patient did not show the MTB phenotype. This constellation of findings in the absence of the MTB phenotype has not been previously reported. © 2014 Wiley Periodicals, Inc.

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

Science.gov (United States)

Neri, G; Martini-Neri, M E; Katz, B E; Opitz, J M

1984-09-01

We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

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

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.

Comorbid Conditions in Neonates With Congenital Heart Disease.

Science.gov (United States)

Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

2016-08-01

The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

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....

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.

Exploring Risk Perception and Attitudes to Miscarriage and Congenital Anomaly in Rural Western Kenya

OpenAIRE

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

2013-01-01

Background\\ud 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.\\ud \\ud Methods\\ud Ten focus group discussions (FGDs) were undertaken in a rural district in western Kenya in September 2010. The FGDs included separate groups c...

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.

Motor-function and exercise capacity in children with major anatomical congenital anomalies : An evaluation at 5 years of age

NARCIS (Netherlands)

M.H.M. van der Cammen-van Zijp (Monique); S.J. Gischler (Saskia); P. Mazer (Petra); M. van Dijk (Monique); D. Tibboel (Dick); H. IJsselstijn (Hanneke)

2010-01-01

markdownabstract__Background:__ Children with major anatomical congenital anomalies (CA) often need prolonged hospitalization with surgical interventions in the neonatal period and thereafter. Better intensive care treatment has reduced mortality rates, but at the cost of more morbidity. __Aim:__

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

Midline cervical cleft: a rare congenital anomaly.

Science.gov (United States)

Renukaswamy, Gayathri Mandya; Soma, Marlene A; Hartley, Benjamin E J

2009-11-01

A midline cervical cleft (MCC) is a rare congenital anomaly due to failure of fusion of the first and second branchial arches during embryogenesis. It may present as a midline defect of the anterior neck skin with a skin projection or sinus, or as a subcutaneous fibrous cord. This report evaluates the clinical features and surgical management of an MCC. We analyzed a series of 4 patients with an MCC successfully treated at Great Ormond Street Hospital for Children in London. Three male patients and 1 female patient between 4 and 11 months of age were found to have an MCC. Each patient presented with an erythematous, fibrous band of tissue extending between the chin and the suprasternal notch. Treatment comprised surgical excision of the lesion and Z-plasty repair. We present the embryology, common clinical presentation, investigations, differential diagnosis, and histology, along with a literature review, of this uncommon malformation of the anterior neck. An MCC is a differential diagnosis to consider when assessing a child with a midline cervical lesion. Early surgical excision with Z-plasty repair of the soft tissue defect is the treatment of choice to prevent long-term complications.

Vertebral stabilization using positively threaded profile pins and polymethylmethacrylate, with or without laminectomy, for spinal canal stenosis and vertebral instability caused by congenital thoracic vertebral anomalies.

Science.gov (United States)

Aikawa, Takeshi; Kanazono, Shinichi; Yoshigae, Yuki; Sharp, Nicholas J H; Muñana, Karen R

2007-07-01

To describe diagnostic findings, surgical technique, and outcome in dogs with thoracic spinal canal stenosis and vertebral instability secondary to congenital vertebral anomalies. Retrospective clinical study. Dogs (n=9) with thoracic spinal canal stenosis. Medical records (1995-1996; 2000-2006) of 9 dogs with a myelographic diagnosis of spinal canal stenosis and/or vertebral instability secondary to congenital vertebral anomaly that were surgically managed by vertebral stabilization with or without laminectomy were reviewed. Data on pre- and postoperative neurologic status, diagnostic findings, surgical techniques, and outcomes were retrieved. Follow-up evaluations were performed at 1, 2, and 6 months. Long-term outcome was assessed by means of clinical examination or owner telephone interviews. Spinal cord compression was confirmed by myelography, and in 2 dogs, dynamic compression by stress myelography. Eight dogs regained the ability to ambulate postoperatively. One dog with a partial recovery regained voluntary movement but did not become ambulatory. Spinal cord injury secondary to congenital vertebral anomaly may have a good outcome when treated by vertebral stabilization with or without laminectomy. Adequate stabilization of the vertebrae and improved neurologic outcome were achieved in most dogs. Vertebral stabilization using positively threaded profile pins and polymethylmethacrylate with or without laminectomy is an effective treatment for spinal canal stenosis and vertebral instability secondary to congenital thoracic vertebral anomalies.

Estimation of sex from the anthropometric ear measurements of a Sudanese population.

Science.gov (United States)

Ahmed, Altayeb Abdalla; Omer, Nosyba

2015-09-01

The external ear and its prints have multifaceted roles in medico-legal practice, e.g., identification and facial reconstruction. Furthermore, its norms are essential in the diagnosis of congenital anomalies and the design of hearing aids. Body part dimensions vary in different ethnic groups, so the most accurate statistical estimations of biological attributes are developed using population-specific standards. Sudan lacks comprehensive data about ear norms; moreover, there is a universal rarity in assessing the possibility of sex estimation from ear dimensions using robust statistical techniques. Therefore, this study attempts to establish data for normal adult Sudanese Arabs, assessing the existence of asymmetry and developing a population-specific equation for sex estimation. The study sample comprised 200 healthy Sudanese Arab volunteers (100 males and 100 females) in the age range of 18-30years. The physiognomic ear length and width, lobule length and width, and conchal length and width measurements were obtained by direct anthropometry, using a digital sliding caliper. Moreover, indices and asymmetry were assessed. Data were analyzed using basic descriptive statistics and discriminant function analyses employing jackknife validations of classification results. All linear dimensions used were sexually dimorphic except lobular lengths. Some of the variables and indices show asymmetry. Ear dimensions showed cross-validated sex classification accuracy ranging between 60.5% and 72%. Hence, the ear measurements cannot be used as an effective tool in the estimation of sex. However, in the absence of other more reliable means, it still can be considered a supportive trait in sex estimation. Further, asymmetry should be considered in identification from the ear measurements. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Patent ductus arteriosus associated with congenital anomaly of coronary artery.

Science.gov (United States)

Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

2013-11-01

We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echocardiography showed normal left and right ventricular size and systolic function (LVEF = 55%). Main pulmonary artery (PA) and left pulmonary artery (LPA) branch were considerably dilated. Considering normal coronary flow, lack of clinical evidence of myocardial ischemia and echocardiography findings, patient underwent surgical closure of PDA via left thoracotomy and after five days discharged uneventfully.

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

Mortality of children under five and prevalence of newborn congenital anomalies in relation to macroeconomic and socioeconomic factors in Latvia.

Science.gov (United States)

Ebela, Inguna; Zile, Irisa; Zakis, Aleksandrs; Folkmanis, Valdis; Rumba-Rozenfelde, Ingrida

2011-01-01

Mortality of infants and children younger than 5 years is a globally recognized and broad national welfare indicator. Scientific literature has data on the correlation of mortality indicators with macroeconomic indicators. It is important to study the associations between prevalence and mortality indicators and socioeconomic factors, since deaths from congenital anomalies account for approximately 25%-30% of all deaths in infancy. The aim of the study was to analyze the overall trend in mortality of infants and young children aged 0 to 4 years in relation to macroeconomic factors in Latvia and prevalence of congenital anomalies in newborns in relation to socioeconomic factors. The Newborns' Register and Causes of Death Register were used as data sources; data on specific socioeconomic factors were retrieved from the Central Statistics Office. The results of the study show a strong correlation between mortality in children younger than 5 years and gross domestic product, as well as health budget in LVL per capita and the national unemployment level. The average decrease in infant mortality from congenital anomalies in Latvia was found to be 6.8 cases per 100,000 live births. There is a strong correlation between child mortality and socioeconomic situation in the country. There is a need to analyze the data on child mortality in a transnational context on a regular basis and studying the correlations between child mortality indicators and socioeconomic indicators and health care management parameters.

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.

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

Coexistence of bilateral first and second branchial arch anomalies

Science.gov (United States)

Thakur, J S; Shekar, Vidya; Saluja, Manika; Mohindroo, N K

2013-01-01

Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two non-syndromic cases of coexisting bilateral first and second arch anomalies. Developmental anomalies of the branchial apparatus account for 17% of all paediatric cervical masses and are the most common type of congenital cervical mass. They usually present in the paediatric age group. About 96–97% of these anomalies are unilateral. Bilateral presentation is seen in 2–3% having a strong familial association. Congenital syndromes also have been associated with first and second branchial arch anomalies. Thorough clinical examination and investigations should be done to rule out these syndromes. PMID:23580675

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

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

Congenital Abnormalities

Science.gov (United States)

... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

Parental psychological distress and quality of life after a prenatal or postnatal diagnosis of congenital anomaly: a controlled comparison study with parents of healthy infants.

Science.gov (United States)

Fonseca, Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

2012-04-01

Parental early adjustment to a prenatal or postnatal diagnosis of congenital anomaly has been studied mainly within a pathological and deterministic perspective, giving us an inadequate view of the impact of the diagnosis. Adopting a comprehensive approach on parental adjustment, we aimed to characterise the impact of the diagnosis on psychological distress and quality of life, in the early postdiagnosis stage. The effects of gender and the timing of the diagnosis were also examined. In this cross-sectional study, 42 couples with healthy infants and 42 couples whose infants were prenatal or postnatally diagnosed with a congenital anomaly responded to the Brief Symptom Inventory-18 and to the World Health Organization Quality of Life-Brief instrument. In the early postdiagnosis stage, parents whose infants were diagnosed with a congenital anomaly presented higher levels of psychological distress than did the parents of healthy infants (F(2,79) = 6.23, p = .003), although they displayed similar levels of quality of life (F(4,78) = 0.62, p = .647). Mothers reported more adjustment difficulties than fathers in both groups. Receiving the diagnosis in the prenatal period was associated with higher maternal psychological quality of life (Z = -2.00, p = .045). The occurrence of a diagnosis of congenital anomaly during the transition to parenthood adds to an accumulation of stress-inducing events and manifests itself in psychopathological symptoms. Maintaining a positive evaluation of well-being may be understood as a parental resource to deal with the diagnosis. The importance of adopting a comprehensive perspective on parental adjustment is highlighted. Copyright © 2012 Elsevier Inc. All rights reserved.

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.

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

Science.gov (United States)

Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

2015-07-01

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

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

Aim 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...... to CA subtype. Method Data for children born between 1991 and 1999 were linked using electronic matching of cases. All potential matches were checked manually by each centre and verified as true matches. Results A total of 1104 children with CP were born during the study period (663 males, 441 females...

Disease: H01286 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01286 Microtia hearing impairment and cleft palate (MHICP) Microtia is a congenit...al anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing...HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate. Developmental diso

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

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

N-Terminal Pro-B-Type Natriuretic Peptide and Phonocardiography in Differentiating Innocent Cardiac Murmurs from Congenital Cardiac Anomalies in Asymptomatic Puppies

NARCIS (Netherlands)

Marinus, S M; Engelen, H.G.H.; Szatmári, V.

2017-01-01

Background: Differentiating innocent cardiac murmurs from murmurs caused by congenital cardiac anomalies can be challenging with auscultation alone in asymptomatic puppies. Hypothesis: Plasma N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentrations and phonocardiograms recorded by an

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...

Clinical significance of circumportal pancreas, a rare congenital anomaly, in pancreatectomy.

Science.gov (United States)

Ohtsuka, Takao; Mori, Yasuhisa; Ishigami, Kousei; Fujimoto, Takaaki; Miyasaka, Yoshihiro; Nakata, Kohei; Ohuchida, Kenoki; Nagai, Eishi; Oda, Yoshinao; Shimizu, Shuji; Nakamura, Masafumi

2017-08-01

Circumportal pancreas is a rare congenital pancreatic anomaly. The aim of this study was to clarify the clinical characteristics of patients with circumportal pancreases undergoing pancreatectomy. The medical records of 508 patients who underwent pancreatectomy were retrospectively reviewed. The prevalence of circumportal pancreas and related anatomical variations were assessed. Surgical procedures and postoperative outcomes were compared in patients with and without circumportal pancreas. Circumportal pancreas was observed in 9 of the 508 patients (1.7%). In all nine patients, the portal vein was completely encircled by the pancreatic parenchyma above the level of the splenoportal junction, and the main pancreatic duct ran dorsal to the portal vein. The rate of variant hepatic artery did not differ significantly in patients with and without circumportal pancreas. Pancreatic fistula developed more frequently in patients with than without circumportal pancreas (44% vs. 14%, p = 0.03), but other clinical parameters did not differ significantly in these two groups. Despite being rare, circumportal pancreas may increase the risk of postoperative pancreatic fistula in patients undergoing pancreatectomy. However, a prospective, large-cohort study is necessary to determine the real incidence of relevant anatomical variations and the definitive clinical significance of this rare anomaly. Copyright © 2016 Elsevier Inc. All rights reserved.

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.

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.

Congenital oval or round window anomaly with or without abnormal facial nerve course: surgical results for 15 ears.

NARCIS (Netherlands)

Thomeer, H.G.; Kunst, H.P.; Verbist, B.M.; Cremers, C.W.R.J.

2012-01-01

OBJECTIVES: To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. STUDY DESIGN: Retrospective chart study.

Usefulness of computed tomography hounsfield unit measurement for diagnosis of congenital cholesteatoma

International Nuclear Information System (INIS)

Ahn, Sang Hyuk; Kim, Yong Woo; Baik, Seung Kug; Hwang, Jae Yeon; Lee, Il Woo

2014-01-01

To evaluate the usefulness of Hounsfield unit (HU) measurements for diagnosing of congenital cholesteatoma. A total of 43 patients who underwent surgery due to middle ear cavity lesions were enrolled. Twenty-one patients were confirmed to have congenital cholesteatoma by histopathological results and the other 22 patients were confirmed to have otitis media (OM) by operation. Their computed tomography images were retrospectively reviewed. We measured HU of the soft tissue mass in the middle ear cavity. In addition, we evaluated the largest diameter and location of the mass, the presence of bony erosion in the ear ossicle, and the status of the tympanic membrane in the cholesteatoma group. The mean HU was 37.36 ± 6.11 (range, 27.5-52.5) in the congenital cholesteatoma group and 76.09 ± 8.74 (range, 58.5-96) in the OM group (p < 0.001). The cut-off value was 55.5. The most common location for congenital cholesteatoma was the mesotympanum, and ear ossicle erosion was present in 24%. All patients had an intact tympanic membrane. HU measurement may be useful as an additional indicator to diagnose congenital cholesteatoma.

Usefulness of computed tomography hounsfield unit measurement for diagnosis of congenital cholesteatoma

Energy Technology Data Exchange (ETDEWEB)

Ahn, Sang Hyuk; Kim, Yong Woo; Baik, Seung Kug; Hwang, Jae Yeon; Lee, Il Woo [Medical Research Institute, Pusan National University Yangsan Hospital, College of Medicine, Pusan National University, Yangsan (Korea, Republic of)

2014-02-15

To evaluate the usefulness of Hounsfield unit (HU) measurements for diagnosing of congenital cholesteatoma. A total of 43 patients who underwent surgery due to middle ear cavity lesions were enrolled. Twenty-one patients were confirmed to have congenital cholesteatoma by histopathological results and the other 22 patients were confirmed to have otitis media (OM) by operation. Their computed tomography images were retrospectively reviewed. We measured HU of the soft tissue mass in the middle ear cavity. In addition, we evaluated the largest diameter and location of the mass, the presence of bony erosion in the ear ossicle, and the status of the tympanic membrane in the cholesteatoma group. The mean HU was 37.36 ± 6.11 (range, 27.5-52.5) in the congenital cholesteatoma group and 76.09 ± 8.74 (range, 58.5-96) in the OM group (p < 0.001). The cut-off value was 55.5. The most common location for congenital cholesteatoma was the mesotympanum, and ear ossicle erosion was present in 24%. All patients had an intact tympanic membrane. HU measurement may be useful as an additional indicator to diagnose congenital cholesteatoma.

Maternal age-specific risk of non-chromosomal anomalies

DEFF Research Database (Denmark)

Loane, M; Dolk, H; Morris, J K

2009-01-01

OBJECTIVES: To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. DESIGN AND SETTING: Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.7...

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.

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.)

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.

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.

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

Unusual Congenital Aortic Anomaly with Rare Common Celiamesenteric Trunk Variation: MR Angiography and Digital Substraction Angiography Findings

International Nuclear Information System (INIS)

Tosun, Ozgur; Sanlidilek, Umman; Cetin, Huseyin; Ozdemir, Ozcan; Kurt, Aydin; Sakarya, Mehmet Emin; Tas, Ismet

2007-01-01

Magnetic resonance angiography and digital substraction angiography (DSA) findings in a case with a rare congenital thoracoabdominal aortic hypoplasia and common celiamesenteric trunk variation with occlusion of infrarenal abdominal aorta are described here. To our knowledge, this aortic anomaly has not been previously described in the English literature. DSA is the optimum imaging modality for determination of aortic hypoplasia, associated vascular malformations, collateral vessels, and direction of flow within vessels

Maternal characteristics and birth outcomes of pregnant women who had offspring with congenital ear abnormalities - a population-based case-control study.

Science.gov (United States)

Paput, László; Bánhidy, Ferenc; Czeizel, Andrew E

2011-09-01

To describe the maternal characteristics and birth outcomes of newborn infants affected with isolated ear congenital abnormalities (IECA), mainly isolated anotia/microtia and unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM). Cases with IECA and UMAM were compared with their matched controls and all controls without any defect and malformed controls affected with other defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. The mothers of 354 cases with IECA did not show significant difference in age, but their mean birth order was higher while their socio-economic status based on the maternal employment status was lower compared to the figures of their matched controls. There was a male excess among cases with microtia and mainly with UMAM. The evaluation of birth outcomes of newborns affected with IECA indicated intrauterine fetal growth retardation. Newborn infants with isolated microtia had intrauterine growth retardation and the association of this developmental defect localized for a small region of head with the general fetal development raises interesting theoretical question.

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

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

NARCIS (Netherlands)

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

Malformations associated with congenital diaphragmatic hernia: Impact on survival.

Science.gov (United States)

Bojanić, Katarina; Pritišanac, Ena; Luetić, Tomislav; Vuković, Jurica; Sprung, Juraj; Weingarten, Toby N; Schroeder, Darrell R; Grizelj, Ruža

2015-11-01

Congenital diaphragmatic hernia (CDH) is associated with high mortality. Survival is influenced by the extent of pulmonary hypoplasia and additional congenital defects. The purpose of this study was to assess the association of congenital anomalies and admission capillary carbon dioxide levels (PcCO2), as a measure of extent of pulmonary hypoplasia, on survival in neonates with CDH. This is a retrospective review of neonates with CDH admitted to a tertiary neonatal intensive care unit between 1990 and 2014. Logistic regression was used to assess whether hospital survival was associated with admission PcCO2 or associated anomalies (isolated CDH, CDH with cardiovascular anomalies, and CDH with noncardiac anomalies). The probabilities of survival (POS) score, based on birth weight and 5-min Apgar as defined by the Congenital Diaphragmatic Hernia Study Group were included as a covariate. Of 97 patients, 55 had additional malformations (cardiovascular n=12, noncardiac anomalies n=43). POS was lower in CDH with other anomalies compared to isolated CDH. Survival rate was 61.9%, 53.5% and 41.7% in isolated CDH, CDH with noncardiac anomalies and CDH with cardiovascular anomalies, respectively. After adjusting for POS score the likelihood of survival in CDH groups with additional anomalies was similar to isolated CDH (OR 0.95, 95% CI 0.22-4.15, and 1.10, 0.39-3.08, for CDH with and without cardiovascular anomalies, respectively). After adjusting for POS score, lower PcCO2 levels (OR=1.25 per 5mmHg decrease, P=0.003) were associated with better survival. Neonates with CDH have a high prevalence of congenital malformations. However, after adjusting for POS score the presence of additional anomalies was not associated with survival. The POS score and admission PcCO2 were important prognosticating factors for survival. Copyright © 2015 Elsevier Inc. All rights reserved.

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...

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Science.gov (United States)

van der Ven, Amelie T; Vivante, Asaf; Hildebrandt, Friedhelm

2018-01-01

Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans. Copyright © 2018 by the American Society of Nephrology.

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....

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 �

Congenital heart defects in children with oral clefts

Directory of Open Access Journals (Sweden)

Nahvi H.

2007-09-01

Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

Type II first branchial cleft anomaly.

Science.gov (United States)

Al-Mahdi, Akmam H; Al-Khurri, Luay E; Atto, Ghada Z; Dhaher, Ameer

2013-01-01

First branchial cleft anomaly is a rare disease of the head and neck. It accounts for less than 8% of all branchial abnormalities. It is classified into type I, which is thought to arise from the duplication of the membranous external ear canal and are composed of ectoderm only, and type II that have ectoderm and mesoderm. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. A 9-year-old girl presented to us with fistula in the submandibular region and discharge in the external ear. Under general anesthesia, complete surgical excision of the fistula tract was done through step-ladder approach, and the histopathologic examination confirmed the diagnosis of type II first branchial cleft anomaly.

Unusual extension of the first branchial cleft anomaly.

Science.gov (United States)

Ada, Mehmet; Korkut, Nazim; Güvenç, M Güven; Acioğlu, Engin; Yilmaz, Süleyman; Cevikbaş, Uğur

2006-03-01

First branchial cleft is the only branchial structure that persists as the external ear canal, while all other clefts are resorbed. Incomplete obliteration and the degree of closure cause the varied types of first branchial cleft anomalies. They were classified based on the anatomical and histological features. We present an unusual type of first branchial cleft anomaly involving the external auditory canal, the middle ear and the nasopharynx through the eustachian tube.

Prevalence of dental anomalies in Indian population.

Science.gov (United States)

Patil, Santosh; Doni, Bharati; Kaswan, Sumita; Rahman, Farzan

2013-10-01

Developmental anomalies of the dentition are not infrequently observed by the dental practitioner. The aim of the present study was to determine the prevalence of dental anomalies in the Indian population. A retrospective study of 4133 panoramic radiographs of patients, who attended the Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital between September 2008 to December 2012 was done. The ages of the patients ranged from 13 to 38 years with a mean age of 21.8 years. The orthopantomographs (OPGs) and dental records were examined for any unusual finding such as congenitally missing teeth, impactions, ectopic eruption, supernumerary teeth, odontoma, dilacerations, taurodontism, dens in dente, germination and fusion, among others. 1519 (36.7%) patients had at least one dental anomaly. The congenitally missing teeth 673 (16.3%) had the highest prevalence, followed by impacted teeth 641 (15.5%), supernumerary teeth 51 (1.2%) and microdontia 41 (1.0%). Other anomalies were found at lower prevalence ranging from transposition 7 (0.1%) to ectopic eruption 30 (0.7%). The most prevalent anomaly in the Indian population was congenitally missing teeth (16.3%), and the second frequent anomaly was impacted teeth (15.5%), whereas, macrodontia, odontoma and transposition were the least frequent anomalies, with a prevalence of 0.2%, 0.2% and 0.1% respectively. While the overall prevalence of these anomalies may be low, the early diagnosis is imperative for the patient management and treatment planning. Key words:Dental anomaly, prevalence, panoramic radiography.

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

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.

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

The Association of Ambient Air Pollution and Traffic Exposures With Selected Congenital Anomalies in the San Joaquin Valley of California

Science.gov (United States)

Padula, Amy M.; Tager, Ira B.; Carmichael, Suzan L.; Hammond, S. Katharine; Lurmann, Frederick; Shaw, Gary M.

2013-01-01

Congenital anomalies are a leading cause of infant mortality and are important contributors to subsequent morbidity. Studies suggest associations between environmental contaminants and some anomalies, although evidence is limited. We aimed to investigate whether ambient air pollutant and traffic exposures in early gestation contribute to the risk of selected congenital anomalies in the San Joaquin Valley of California, 1997–2006. Seven exposures and 5 outcomes were included for a total of 35 investigated associations. We observed increased odds of neural tube defects when comparing the highest with the lowest quartile of exposure for several pollutants after adjusting for maternal race/ethnicity, education, and multivitamin use. The adjusted odds ratio for neural tube defects among those with the highest carbon monoxide exposure was 1.9 (95% confidence interval: 1.1, 3.2) compared with those with the lowest exposure, and there was a monotonic exposure-response across quartiles. The highest quartile of nitrogen oxide exposure was associated with neural tube defects (adjusted odds ratio = 1.8, 95% confidence interval: 1.1, 2.8). The adjusted odds ratio for the highest quartile of nitrogen dioxide exposure was 1.7 (95% confidence interval: 1.1, 2.7). Ozone was associated with decreased odds of neural tube defects. Our results extend the limited body of evidence regarding air pollution exposure and adverse birth outcomes. PMID:23538941

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.

Pediatric tinnitus: Incidence of imaging anomalies and the impact of hearing loss.

Science.gov (United States)

Kerr, Rhorie; Kang, Elise; Hopkins, Brandon; Anne, Samantha

2017-12-01

Guidelines exist for evaluation and management of tinnitus in adults; however lack of evidence in children limits applicability of these guidelines to pediatric patients. Objective of this study is to determine the incidence of inner ear anomalies detected on imaging studies within the pediatric population with tinnitus and evaluate if presence of hearing loss increases the rate of detection of anomalies in comparison to normal hearing patients. Retrospective review of all children with diagnosis of tinnitus from 2010 to 2015 ;at a tertiary care academic center. 102 pediatric patients with tinnitus were identified. Overall, 53 patients had imaging studies with 6 abnormal findings (11.3%). 51/102 patients had hearing loss of which 33 had imaging studies demonstrating 6 inner ear anomalies detected. This is an incidence of 18.2% for inner ear anomalies identified in patients with hearing loss (95% confidence interval (CI) of 7.0-35.5%). 4 of these 6 inner ear anomalies detected were vestibular aqueduct abnormalities. The other two anomalies were cochlear hypoplasia and bilateral semicircular canal dysmorphism. 51 patients had no hearing loss and of these patients, 20 had imaging studies with no inner ear abnormalities detected. There was no statistical difference in incidence of abnormal imaging findings in patients with and without hearing loss (Fisher's exact test, p ;= ;0.072.) CONCLUSION: There is a high incidence of anomalies detected in imaging studies done in pediatric patients with tinnitus, especially in the presence of hearing loss. Copyright © 2017 Elsevier B.V. All rights reserved.

Detection of ossicular chain abnormalities using CT imaging. Comparison of axial and virtual middle ear endoscopic imaging

International Nuclear Information System (INIS)

Sakata, Motomichi; Kamagata, Masaki; Harada, Kuniaki; Shirase, Ryuji; Oomoto, Hidechika; Himi, Tetsuo

2000-01-01

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 z =0.967, SD=0.022) was not significantly better than that of axial imaging (A 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)

Epidemiology of congenital diaphragmatic hernia in Europe

DEFF Research Database (Denmark)

McGivern, Mark R.; Best, Kate E.; Rankin, Judith

2015-01-01

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...

Common dental anomalies in cleft lip and palate patients.

Science.gov (United States)

Haque, Sanjida; Alam, Mohammad Khursheed

2015-01-01

Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies.

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.)

Horseshoe lung with multiple congenital anomalies. Case report and review of the literature

Energy Technology Data Exchange (ETDEWEB)

Hawass, N.D.; Badawi, M.G.; Fatani, J.A.; Meshari, A.A.; Edrees, Y.B.

A detailed radiologic and anatomic study of a 20-week old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed.

Electron beam CT diagnosis of congenital unilateral absence of pulmonary artery

International Nuclear Information System (INIS)

Zhou Yuan; Dai Ruping; Cao Cheng; Zhang Gejun; Jing Baolian

2003-01-01

Objective: To evaluate the clinical value of electron beam CT (EBCT) in diagnosing congenital unilateral absence of pulmonary artery (UAPA). Methods: Patients with clinically suspected pulmonary artery disease or primary pulmonary hypertension underwent EBCT scanning. EBCT confirmed the diagnosis of UAPA in 11 patients, who were also evaluated with echocardiography and chest roentgenography. Cardioangiography and nuclear ventilation-perfusion scan were performed in some patients for a comparative study. Results: 4 female adults had UAPA with out associated congenital anomaly. 3 male children with coexisting complex congenital abnormality had unilateral absence of the left pulmonary artery and 4 patients coexisted other simple cardiovascular anomaly. EBCT scanning simultaneously displayed topographic pattern of both unilateral absence of pulmonary artery and coexisting congenital cardiovascular anomaly, as well as lung diseases. Conclusion: UAPA diagnosed in childhood usually has unilateral absence of the left pulmonary artery and associated congenital cardiovascular anomaly, while UAPA diagnosed in adult usually has UAPA on the right side without associated congenital anomaly. EBCT is one of the optimal imaging techniques in diagnosing UAPA and it greatly increases the diagnostic efficacy than echocardiography dose. Both EBCT and cardioangiography have their own advantages, however, EBCT, as a noninvasive method, should be complementary and not exclusive

Splenic Anomalies of Shape, Size, and Location: Pictorial Essay

Directory of Open Access Journals (Sweden)

Adalet Elcin Yildiz

2013-01-01

Full Text Available Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen are lobulations, notches, and clefts; the fusion and location anomalies of spleen are accessory spleen, splenopancreatic fusion, and wandering spleen; polysplenia can be associated with a syndrome. Splenosis and small spleen are acquired anomalies which are caused by trauma and sickle cell disease, respectively. These anomalies can be detected easily by using different imaging modalities including ultrasonography, computed tomography, magnetic resonance imaging, and also Tc-99m scintigraphy. In this pictorial essay, we review the imaging findings of these anomalies which can cause diagnostic pitfalls and be interpreted as pathologic processes.

Ex Vivo Reconstruction and Autotransplantation for Hilar Renal Artery Aneurysms in Patients with Congenital Anomalies.

Science.gov (United States)

Adeyemi, Jaiyeola; Johnson, Jacob; Rits, Yevgeniy; Akingba, A George; Rubin, Jeffrey

2018-02-01

Renal artery aneurysms (RAAs) are an uncommon finding but are more often associated with other congenital disorders. The complex (hilar) RAAs constitute a subset of RAAs that present a therapeutic dilemma for the vascular surgeon because of their anatomic location. This dilemma worsens when hilar RAAs occur with a solitary kidney where organ preservation is vital. Ex vivo reconstruction with autotransplantation is especially suitable for hilar RAAs, even when they are associated with a solitary kidney. We report 2 of such cases of RAAs with a solitary kidney in patients with pertinent congenital anomalies. In 1 case, the hilar RAA was associated with a significant accessory renal artery, whereas in the other case, the hilar RAA was associated with a significant connective tissue disorder. Ex vivo reconstruction and autotransplantation was successful in both cases; however, treatment modalities had to be adapted to the patient's unique conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

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.

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

Adaptation to the Birth of a Child with a Congenital Anomaly: A Prospective Longitudinal Study of Maternal Well-Being and Psychological Distress

Science.gov (United States)

Nes, Ragnhild B.; Røysamb, Espen; Hauge, Lars J.; Kornstad, Tom; Landolt, Markus A.; Irgens, Lorentz M.; Eskedal, Leif; Kristensen, Petter; Vollrath, Margarete E.

2014-01-01

This study explores the stability and change in maternal life satisfaction and psychological distress following the birth of a child with a congenital anomaly using 5 assessments from the Norwegian Mother and Child Cohort Study collected from Pregnancy Week 17 to 36 months postpartum. Participating mothers were divided into those having infants…

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.

A holistic approach to CAKUT (Congenital Anomalies of the Kidney and Urinary Tract

Directory of Open Access Journals (Sweden)

Giuseppe Masnata

2016-02-01

Full Text Available The urinary tract malformations, today called CAKUT (Congenital Anomalies of the Kidney and Urinary Tract, include a range of morphological and/or functional abnormalities of the kidney and urinary tract diseases, apart from being the main cause of renal failure in children. The frequency of these birth defects is around 2% of pregnancies and many genetic syndromes may include CAKUT: about 500 of them have been described. The CAKUT concern localized alterations at different levels of the urinary system: hydronephrosis, vesicoureteral reflux, duplex collecting system, megaureter, kidney dysplasia. In the approach to the child with CAKUT it is important to identify a population at risk, distinguishing between CAKUT with and without clinical significance, applying a tailored approach to the individual patient, avoiding unnecessary investigations and treatments.

Congenital heart defects in Williams syndrome.

Science.gov (United States)

Yuan, Shi-Min

2017-01-01

Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

SLC26A4 mutations are associated with a specific inner ear malformation.

Science.gov (United States)

Fitoz, Suat; Sennaroğlu, Levent; Incesulu, Armağan; Cengiz, Filiz Başak; Koç, Yasemin; Tekin, Mustafa

2007-03-01

Inner ear anomalies have been reported in approximately 30% of children with early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia. We aimed to characterize the inner ear anomalies associated with SLC26A4 mutations. The SLC26A4 gene has been screened for mutations in 16 subjects from 14 unrelated Turkish families with a variety of inner ear anomalies ranging from Michel aplasia to incomplete partition-II and EVA. None of the patients was diagnosed to have a recognizable genetic syndrome. Additional four patients with Pendred syndrome from three families were included. Only one patient with EVA was found to have a heterozygous mutation (c.1586delT) in SLC26A4. All patients with Pendred syndrome had homozygous mutations and were noted to have either EVA or EVA associated with incomplete partition-II on the computed tomography of the temporal bone. SLC26A4 mutations are not associated with a large spectrum of inner ear anomalies. They, instead, result in a specific morphological appearance consistent with EVA or incomplete partition-II.

MR findings of congenital anorectal malformation

Energy Technology Data Exchange (ETDEWEB)

Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

1995-05-15

To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

MR findings of congenital anorectal malformation

International Nuclear Information System (INIS)

Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo

1995-01-01

To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation

Analysis of Renal Anomalies in VACTERL Association

OpenAIRE

Cunningham, Bridget K.; Khromykh, Alina; Martinez, Ariel F.; Carney, Tyler; Hadley, Donald W.; Solomon, Benjamin D.

2014-01-01

VACTERL association refers to a combination of congenital anomalies that can include: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula with esophageal atresia, Renal anomalies (typically structural renal anomalies), and Limb anomalies. We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least 3 component features of VACTERL and who had ab...

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

MR imaging of congenital heart disease

International Nuclear Information System (INIS)

Kersting-Sommerhoff, B.A.; Diethelm, L.; Teitel, D.F.; Sommerhoff, C.P.; Higgins, C.B.

1988-01-01

Sensitivity and specificity of MR imaging for the evaluation of congenital heart disease was assessed in 51 patients (31 male and 20 female, aged 3-69 years), with a total of 115 congenital heart lesions. The true diagnosis was established by angiocardiography, catheterization, or surgery. Sensitivity at a specificity level of 90% was determined by means of receiver operating characteristic curves for great vessel relationships (100%), thoracic aorta anomalies (94%), atrial (91%) and ventricular (100%) septal defects, visceroatrial situs (100%), loop (100%), right ventricular outflow obstructions (95%), aortic valve (52%), mitral valve (62%), and tricuspid valve (76%). Spin-echo MR imaging is a reliable method for the noninvasive evaluation of congenital heart disease but is limited in the assessment of some valvular anomalies

Pathogenesis of developmental anomalies of the central nervous system induced by congenital cytomegalovirus infection.

Science.gov (United States)

Kawasaki, Hideya; Kosugi, Isao; Meguro, Shiori; Iwashita, Toshihide

2017-02-01

In humans, the herpes virus family member cytomegalovirus (CMV) is the most prevalent mediator of intrauterine infection-induced congenital defect. Central nervous system (CNS) dysfunction is a distinguishing symptom of CMV infection, and characterized by ventriculoencephalitis and microglial nodular encephalitis. Reports on the initial distribution of CMV particles and its receptors on the blood brain barrier (BBB) are rare. Nevertheless, several factors are suggested to affect CMV etiology. Viral particle size is the primary factor in determining the pattern of CNS infections, followed by the expression of integrin β1 in endothelial cells, pericytes, meninges, choroid plexus, and neural stem progenitor cells (NSPCs), which are the primary targets of CMV infection. After initial infection, CMV disrupts BBB structural integrity to facilitate the spread of viral particles into parenchyma. Then, the initial meningitis and vasculitis eventually reaches NSPC-dense areas such as ventricular zone and subventricular zone, where viral infection inhibits NSPC proliferation and differentiation and results in neuronal cell loss. These cellular events clinically manifest as brain malformations such as a microcephaly. The purpose of this review is to clearly delineate the pathophysiological basis of congenital CNS anomalies caused by CMV. © 2017 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

Focal skin defect, limb anomalies and microphthalmia.

NARCIS (Netherlands)

Jackson, K.E.; Andersson, H.C.

2004-01-01

We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.

Science.gov (United States)

Solomon, Benjamin D; Raam, Manu S; Pineda-Alvarez, Daniel E

2011-06-01

The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.

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.

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.

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.

Classification and Current Management of Inner Ear Malformations

Directory of Open Access Journals (Sweden)

Levent Sennaroğlu

2017-10-01

Full Text Available Morphologically congenital sensorineural hearing loss can be investigated under two categories. Majority of the congenital hearing loss (80% are membranous malformations. Here the pathology involves inner ear hair cells. There is no gross bony abnormality and therefore, in these cases, high resolution computerized tomography and MRI of the temporal bone reveal normal findings. Remaining 20% have various malformations involving the bony labyrinth and therefore, can be radiologically demonstrated by CT and MRI. The latter group involves surgical challenges as well as problems in decision making. Some cases may be managed by hearing aid, some need cochlear implantation while some cases are candidates for an auditory brainstem implantation. During cochlear implantation, there may be facial nerve abnormalities, cerebrospinal fluid leakage, electrode misplacement or difficulty in finding the cochlea itself. During the surgery for inner ear malformations, surgeon must be ready to modify the surgical approach or choose special electrodes for surgery. In the present review article inner ear malformations are classified according to the differences observed in the cochlea. Hearing and language outcome after various implantation methods is closely related to the status of cochlear nerve and a practical classification of the cochlear nerve deficiency is also provided

Congenital malformations in paediatric and neurosurgical practices ...

African Journals Online (AJOL)

Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report) ... Open Access DOWNLOAD FULL TEXT ... 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.

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 ...

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.)

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.

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.

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)

Congenital bronchobiliary fistula: MRI appearance

International Nuclear Information System (INIS)

Hourigan, Jon S.; Carr, Michael G.; Burton, Edward M.; Ledbetter, Joel C.

2004-01-01

Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences. (orig.)

Morning glory disc anomaly: A case report | Saraswat | Nigerian ...

African Journals Online (AJOL)

Morning glory disc anomaly: A case report. Neeraj K. Saraswat, Ravi Ranjan, Dipendra Shukla, Sushil Ojha. Abstract. A rare case of congenital anomaly of the optic disc is presented to draw attention to the occurrence of this anomaly in rural India. The typical case presented with excavated, enlarged colobomatous optic ...

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Science.gov (United States)

Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

2016-01-01

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

Congenital abnormalities of the posterior fossa.

Science.gov (United States)

Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

2015-01-01

The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. RSNA, 2015

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

Science.gov (United States)

Sridhar, K.

2009-01-01

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. PMID:19884674

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.

Novel syndrome with conductive hearing loss and congenital glaucoma in three generations.

Science.gov (United States)

Takeuchi, Kazuhiko; Kitano, Masako; Sakaida, Hiroshi; Masuda, Sawako

2017-08-01

The objective of this paper was to describe the clinical and otological findings in multiple members of a family with congenital glaucoma, cardiac anomaly, and conductive hearing loss due to ossicular chain anomalies. We performed a retrospective review of the medical charts and otological materials of multiple members of the same family. Congenital glaucoma and hearing loss were inherited by the proband and her daughter, son, and mother, suggesting autosomal dominant inheritance. The son and daughter also showed atrial septal defects. Exploratory tympanotomies revealed anomalies of the long process of the incus in the proband and her daughter, and tympanoplasty improved hearing loss in both patients. This represents the first description of coexisting congenital glaucoma and conductive hearing loss due to ossicular chain anomalies in multiple members of a single family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

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.

Bicornuate-Septate Uterus: A New Congenital Uterine Anomaly

Directory of Open Access Journals (Sweden)

Babak Dabir-Ashrafi

2008-08-01

Full Text Available Bicornuate uterus is class IV and septate uterus is class Vin uterine anomaly classification.Bicornuate uterus is almost always treated by laparotomy and metroplasty. But the treatment of choice for septate uterus is hysteroscopic metroplasty. Bicornuate- septate uterus which is described in this paper is a new class of uterine anomaly(between class IV & V. The advantages of hysteroscopic metroplasty to laparotomy and metroplasty have been proven previously.It is important to know if the uterine anomaly is pure bicornuate or bicornuate-septate. In the latter case, we suggest the first line of operation should be hysteroscopic metroplasty.

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

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.

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

Reconstruction of partially amputated external ear with costal cartilage graft: case report.

Science.gov (United States)

Brunelli, A; Bottini, D J; Cervelli, V; Cervelli, G; Grimaldi, M

2004-06-01

Many causes are responsible for secondary anomalies of the outer ear, such as: car accidents, sport- or work-related accidents, assaults, bites from animals or humans, benign or malignant tumours, burns and the effects of surgical interventions of the ear (plastic surgery on the ear or attempts at correction of primary malformations of the ear). The anatomical complexity of the ear makes its reconstruction particularly complicated with post-operative results that are often disappointing. The Authors describe their experience in the reconstruction of a partially amputated outer ear following a dog bite. The therapeutic protocol required various surgical stages. Initially, a cutaneous expander was applied at the level of the mastoid in order to ensure a sufficient quantity of local skin. The second stage was to remove cartilage from the ribs, followed by construction of a cartilaginous model of the ear and its insertion into the subcutaneous mastoid region after removal of the cutaneous expander and any residual ear cartilage. The last stage was to separate the neo-formed outer ear from the mastoid skin with the insertion of a cartilage graft to the posterior region of the reconstructed ear. This graft was covered by the occipital fascia rotated at 180 degrees and by a skin graft removed from the pubis. The postoperative result was satisfactory with recuperation of a good aesthetic appearance of the ear. Aim of the present report is to describe the surgical technique employed in the reconstruction of secondary anomalies of the ear and to highlight errors committed during this procedure. These considerations have allowed us to stress some fundamental elements in the reconstruction of the ear. In particular, the watershed was the awareness that we had to create a cartilaginous model that respected, as far as possible, the anatomy of the outer ear with all its ridges, trenches and cavities. This as well as ensuring a sufficient quantity of local skin in order to cover

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: ...

MR imaging of anorectal malformations and associated anomalies

International Nuclear Information System (INIS)

Nievelstein, R.A.J.; Valk, J.; Vos, A.

1998-01-01

Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

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

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention t...

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.

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

Prevalence of dental anomalies in the permanent dentition of children with Down syndrome.

Science.gov (United States)

Sekerci, Ahmet Ercan; Cantekin, Kenan; Aydinbelge, Mustafa; Ucar, Faruk İzzet

2014-01-01

The purpose of this study was to evaluate the prevalence of various congenital dental anomalies in the permanent dentition of Turkish children with Down syndrome. The sample consisted of 216 diagnostic records of children diagnosed with Down syndrome. All subjects had a clinical examination as well as radiographs and photographs taken. Anomalies in the permanent dentition were documented. There was a high incidence of dental anomalies, the most frequent being taurodontism (81 percent), rotation (28 percent), hypodontia (26 percent), tooth impaction (18 percent), ectopic eruption (14 percent), microdontia (13 percent), and hyperdontia (9 percent). Differences in prevalence of congenitally missing teeth, structural anomalies, and positional anomalies reached a statistically significant level regarding gender (Panomalies affecting the permanent dentition, and, in most cases, individuals presented with more than one anomaly.

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.

Anthropometric growth study of the ear in a Chinese population.

Science.gov (United States)

Zhao, Shichun; Li, Dianguo; Liu, Zhenzhong; Wang, Yibiao; Liu, Lei; Jiang, Duyin; Pan, Bo

2018-04-01

A large number of anthropometric studies of the auricle have been reported in different nations, but little data were available in the Chinese population. The aim of this study was to analyze growth changes in the ear by measuring the width and length of ears in a Chinese population. A total of 480 participants were enrolled and classified into 1-, 3-, 5-, 7-, 9-, 12-, 14-, and 18-year groups (half were boys and half were girls in each group). Ear length, ear width, body weight, and body length were measured and recorded; ear index was calculated according to ear length and ear width. The growth of auricle and differences between genders were analyzed. Growth of ear in relation to body height and weight and the degree of emphasis on the length and width of the auricle were also analyzed. Ear length and width increased with age. Ear length achieved its mature size in both 14-year-old males and females. Ear width reached its mature size in males at 7 years and in females at 5 years. Different trends of ear index were shown between males and females. People in this population paid more attention to the length than the width of the auricle. The data indicated that ear development followed increase in age. There were gender and ethnic difference in the development of ear. These results may have potential implications for the diagnosis of congenital malformations, syndromes, and planning of ear reconstruction surgery. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Are Patients with Spontaneous CSF Otorrhea and Superior Canal Dehiscence Congenitally Predisposed to Their Disorders?

Science.gov (United States)

Stevens, Shawn M; Hock, Kiefer; Samy, Ravi N; Pensak, Myles L

2018-04-01

Objectives (1) Compare lateral skull base (LSB) height/thickness in patients with spontaneous cerebrospinal fluid otorrhea (CSF), superior canal dehiscence (SCD), acoustic neuromas (AN), and otosclerosis (OTO). (2) Perform correlations between age, body mass index (BMI), sex, and LSB height/thickness. Study Design Case series with chart review. Setting Tertiary referral center. Subjects and Methods Patients with CSF, SCD, AN, and OTO diagnosed from 2006 to 2016 were included if they had high-definition temporal bone computed tomography (CT) and absence of trauma, radiation, chronic ear disease, and/or congenital anomaly. CT-based measurements included LSB height/thickness and pneumatization rates overlaying the external auditory canal (EAC), tegmen tympani (TgT), perigeniculate region (PG), and internal auditory canal (IAC). LSB height/thickness, age, sex, and BMI were statistically correlated. In total, 256 patients and 493 ears (109 CSF, 115 SCD, 269 AN/OTO) were measured. Results Patients with CSF had significantly higher BMIs than the other groups ( P CSF and SCD had similar radiographic LSB phenotypes at most measured locations. Both groups exhibited a significantly lower LSB height compared to the AN and OTO groups (mean, 3.9-4.2 mm vs 4.9-5.6 mm; P CSF and SCD also demonstrated significantly lower pneumatization rates, as low as 17% to 23% overlaying the PG and IAC ( P CSF and SCD exhibit similar radiographic LSB phenotypes. Age, sex, and BMI do not significantly correlate with LSB height/thickness. These data support the theory that CSF and SCD arise via similar congenital pathoetiologic mechanisms.

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.

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.

[Mondini dysplasia: recurrent bacterial meningitis in adolescence].

Science.gov (United States)

Vargas-Dĭaz, J; Garófalo-Gómez, N; Rodríguez, U; Parra, M; Barroso-García, E; Novoa-López, L; Rojas-Massipe, E; Sardiñas-Hernández, N L

Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenitally deaf patients. We report the case of an adolescent with a history of being unable to hear in one ear who, from the age of 10 years, began to suffer repeated bacterial meningoencephalitis with microbiological recovery of Streptococcus pneumoniae on three occasions. The type of germ recovered in the cerebrospinal fluid (CSF) and the history of congenital deafness that was detected when the patient was 3 years old were the diagnostic clues to the possible anomaly of the inner ear with a CSF fistula. The clinically proven CSF rhinorrhea contributed to the diagnosis of an ear anomaly with a fistula. Computerised axial tomography and magnetic resonance studies of the petrous portion of the temporal bone revealed the malformation that was later found and closed during the surgical intervention on the affected ear. The clinical absence of rhinorrhea, a year's progression without new infections after operating on the patient and post-surgery imaging studies were all proof that the fistula had closed. Mondini dysplasia with CSF fistula must be included as a possible diagnosis when faced with a patient with recurrent bacterial meningoencephalitis. Imaging studies, especially magnetic resonance, enable the clinician to check the diagnosis and the CSF fistula can be closed with ear surgery.

First branchial cleft anomaly, a case for misdiagnosis.

Science.gov (United States)

Lanisnik, Bostjan; Didanovic, Vojko; Cizmarevic, Bogdan

2004-01-01

First branchial cleft anomaly is a rare condition that is often misdiagnosed and falsely mistreated before complete and definitive surgical treatment. Its origin is uncertain and the presence of ectodermal and sometimes also mesodermal elements has led some authors to the conclusion that it represents buried nests of cells forming the first branchial cleft and the underlying mesoderm. First branchial cleft anomaly can be presented as a cystic lesion, fistula or sinus extending towards the membranous external ear canal. The sinus tract runs through the parotid gland in close association with the facial nerve. There is no imaging method capable of identifying a first branchial cleft anomaly with certainty. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.

TERMINATION OF PREGNANCY FOR FETAL ANOMALIES – ANALYSIS OF CASES OVER A 4-YEAR PERIOD

Directory of Open Access Journals (Sweden)

Miha Lučovnik

2018-02-01

Full Text Available Background: The consequence of prenatal detection of fetuses with congenital anomalies is induced ter- mination of pregnancy (TOP. The analysis of the indications for TOP and the agreements between prenatal and pathohistological findings is required to assess the quality of work and the appropriateness of diagnostic procedures. Methods: This retrospective analysis involved the indications for TOP performed for congenital fetal anomalies between January 2005 and March 2009. The TOP cases were divided into two groups: the early (up to 22 week, abortion and the late (≥ 22 weeks 0/7, delivery termina- tion group. With regard to the agreement between prenatal and pathohistological postmor- tem findings, 3 groups were created: complete agreement, agreement with additional data provided by pathohistological analysis, disagreement of findings. Results: Of the 220 cases of TOP for congenital anomalies, 180 (82 % were abortion cases and 40 (18 % were labour cases. In both groups, the most frequent causes for TOP were fetal structural abnormalities that were not due to chromosomal anomalies (102 (57 % in the abortion group and 38 (95 % in the delivery group. The percentage of chromosomal/monogenic anomalies was statistically significantly higher in the abortion (43 % than in the labour group (only 5 % (p < 0.001. Pathohistological examination was performed in 172 cases. In 126 (73 % cases the agreement between prenatal ultrasound and pathohistological find- ings was complete and in 37 (22 % pathohistological findings provided additional data on congenital anomalies that did not change the prenatally made diagnosis and would not affect the management of pregnancy. In none of the cases did pathohistological findings reject the prenatally made diagnosis. Conclusions: Fetal structural anomalies are frequent cause of TOP. Pathohistological examination of the fetus confirmed the prenatal diagnosis in all the cases, whereas in one fourth of the cases it

[Diagnosis and treatment of congenital fourth branchial anomaly].

Science.gov (United States)

Chen, Liang-si; Zhang, Si-yi; Luo, Xiao-ning; Song, Xin-han; Zhan, Jian-dong; Chen, Shao-hua; Lu, Zhong-ming

2010-10-01

To discuss the anatomic features, clinical presentations, diagnosis, differentiations and treatments of congenital fourth branchial anomaly(CFBA). The clinical data of 8 patients with CFBA were retrospectively analyzed. Of the 8 patients aging from 27 to 300 months (median age: 114 months), 4 male and 4 female; 3 untreated previously and 5 recurrent. All lesions, including 1 cyst, 3 sinus (with internal opening) and 4 fistula, located in the left necks. Three patients presented acute suppurative thyroiditis, 4 deep neck abscesses, and 1 neck lump. Preoperative examinations included barium esophagogram, direct laryngoscopy, ultrasonography, CT, MRI, and so on. The principles of managements were adequate drainage, infection control during acute period and radical surgery during quiescent period. Classic surgical approach consisted of complete excision of branchial lesions, dissection of recurrent laryngeal nerve and partial thyroidectomy. Selective neck dissection was applied in recurrent cases to extirpate branchial lesions, scarrings and inflammatory granuloma. Postoperatively, 1 case was with local incision infection which healed by wound care; 1 case was with temporary vocal cord paralysis which completely recovered 1 month after operation. No recurrence was found in all of 8 cases with follow-up of 13 to 42 months (median: 21 months). CFBA relates closely anatomically with recurrent laryngeal nerve and thyroid grand. The barium esophagogram and direct laryngoscopy are the most useful diagnostic tools. CT and MRI are all beneficial to the diagnosis of CFBA. The treatment key to CFBA is the complete excision of lesion during a quiescent period after inflammatory control, together with the dissection of recurrent laryngeal nerve, partial thyroidectomy and partial resection of lamina of thyroid cartilage (if necessary), which all can decrease the risk of complications and recurrence. For recurrent cases, selective neck dissection is a safe and effective surgical

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

OpenAIRE

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

The fourth branchial complex anomaly: a rare clinical entity.

Science.gov (United States)

Patel, Alpen B; Hinni, Michael L

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

Prevention and management of vascular complications in middle ear and cochlear implant surgery.

Science.gov (United States)

Di Lella, Filippo; Falcioni, Maurizio; Piccinini, Silvia; Iaccarino, Ilaria; Bacciu, Andrea; Pasanisi, Enrico; Cerasti, Davide; Vincenti, Vincenzo

2017-11-01

The objective of this study is to illustrate prevention strategies and management of vascular complications from the jugular bulb (JB) and internal carotid artery (ICA) during middle ear surgery or cochlear implantation. The study design is retrospective case series. The setting is tertiary referral university hospital. Patients were included if presented pre- or intraoperative evidence of high-risk anatomical anomalies of ICA or JB during middle ear or cochlear implant surgery, intraoperative vascular injury, or revision surgery after the previous iatrogenic vascular lesions. The main outcome measures are surgical outcomes and complications rate. Ten subjects were identified: three underwent cochlear implant surgery and seven underwent middle ear surgery. Among the cochlear implant patients, two presented with anomalies of the JB impeding access to the cochlear lumen and one underwent revision surgery for incorrect positioning of the array in the carotid canal. Subtotal petrosectomy was performed in all cases. Anomalies of the JB were preoperatively identified in two patients with attic and external auditory canal cholesteatoma, respectively. In a patient, a high and dehiscent JB was found during myringoplasty, while another underwent revision surgery after iatrogenic injury of the JB. A dehiscent ICA complicated middle ear effusion in one case, while in another case, a carotid aneurysm determined a cholesterol granuloma. Rupture of a pseudoaneurysm of the ICA occurred in a child during second-stage surgery and required permanent balloon occlusion without neurological complications. Knowledge of normal anatomy and its variants and preoperative imaging are the basis for prevention of vascular complications during middle ear or cochlear implant surgery.

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

Science.gov (United States)

Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

2015-10-01

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.

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.

Fourth Branchial Anomaly Presenting with a Lateral Neck Mass in a Neonate

OpenAIRE

Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Kim, Hyun-Young; Park, Kwi-Won

2014-01-01

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

Fourth branchial anomaly presenting with a lateral neck mass in a neonate.

Science.gov (United States)

Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Kim, Hyun-Young; Park, Kwi-Won

2014-01-01

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

[Neonatal tumours and congenital malformations].

Science.gov (United States)

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Three-dimensional computed tomography in the assessment of congenital scoliosis

International Nuclear Information System (INIS)

Bush, C.H.; Kalen, V.

1999-01-01

Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

Open-type congenital cholesteatoma: differential diagnosis for conductive hearing loss with a normal tympanic membrane.

Science.gov (United States)

Kim, Se-Hyung; Cho, Yang-Sun; Chu, Ho-Suk; Jang, Jeon-Yeob; Chung, Won-Ho; Hong, Sung Hwa

2012-06-01

In patients with progressive conductive hearing loss and a normal tympanic membrane (TM), and with soft tissue density in the middle ear cavity (MEC) on temporal bone computed tomography (TBCT) scan, open-type congenital cholesteatoma (OCC) should be highly suspected and a proper surgical plan that includes mastoid exploration and second-stage operation is required. The clinical presentation of OCC is very similar to congenital ossicular anomaly (COA) presenting with a conductive hearing loss with intact TM. Therefore, it is challenging to make a correct preoperative diagnosis in patients with OCC. We evaluated the clinical characteristics of OCC compared with those of COA to find diagnostic clues useful in diagnosis of OCC. The medical records of 12 patients with surgically proven OCC and 14 patients with surgically proven COA were reviewed for demographic data, otologic history, preoperative TBCT findings, intraoperative findings, and pre- and postoperative audiologic data. There was no difference between OCC and COA based on demographic data, preoperative hearing, and ossicular status on TBCT. However, the presence of progressive hearing loss, soft tissue density in the MEC on TBCT scan, and the need for mastoid surgery and second-stage operation were significantly more frequent in OCC patients.

Lung bud anomalies: Radiologic findings in 30 patients

International Nuclear Information System (INIS)

Son, Kyung Myung; Yang, Hae Ryoun; Jeon, Jeong Su; Kim, Ok Hwa; Kim, Choon Yul; Bahk, Yong Whee

1990-01-01

Bronchogenic cyst, pulmonary sequestration, congenital cystic adenomatoid malformation and congenital lobar emphysema are four major congenital cystic pulmonary diseases that represent a spectrum of closely related anomalies arising at early stage of embryonic lung bud maturation. Most of them present with recurrent pulmonary infections or chest pain since childhood and usually the diagnosis is made at this age. Sometimes the lesions are silent and found at adult age. We retrospectively analyzed the pain chest radiograms of 30 patients with a lung bud anomaly. The diagnosis was established by surgery and biopsy, but bronchography, computed tomography and ultrasonography aided in the diagnosis, seventeen bronchogenic cysts, 8 pulmonary sequestrations, 2 congenital cystic adenomatoid malformations, 2 congenital lobar emphysema and 1 congenital bronchial stenosis are included in this study. Nine out of 13 intrapulmonary bronchogenic cysts involved the lower lobes: thin-walled cysts with or without air-fluid level were the characteristic chest roentgenographic finding. However, mediastinal bronchogenic cysts showed well-marginated mass. The pulmonary sequestration showed similar cysts mass with or without air-fluid levels in five out of eight patients, but the cyst wall was not so sharply defined as in the bronchogenic cyst. In two patients of congenital cystic adenomatoid malformation, a large thin-walled cyst with air fluid level was noted and differentiation from intrapulmonary bronchogenic cyst was difficult both by chest roentgenogram and computed tomography. Two patients of congenital lobar emphysema and one patient of bronchial stenosis showed unilateral hyperlucent lung without discrete cystic mass formation

Study on the progression of congenital scoliosis and the experimental production of the congenital scoliosis induced by /sup 60/Co irradiation in rats

Energy Technology Data Exchange (ETDEWEB)

Noda, Y [Tokushima Univ. (Japan). School of Medicine

1977-08-01

In order to clarify the pathological mechanism of the development of congenital spinal deformities, seventy six cases with congenital spinal deformity were analysed clinically, and vertebral anomalies were produced experimentally in rats of the Wistar strain by giving /sup 60/Co irradiation (200 R) to the mother in the ninth, tenth and eleventh days of the pregnancy. The congenital vertebral anomalies were classified embryologically into the following eight groups, (1) Wedge vertebra, (2) Fused wedge vertebra, (3) Hemivertebra, (4) Fused hemivertebra, (5) Unilateral segmental failure, (6) Bilateral segmental failure, (7) Butterfly vertebra and (8) Mixed type. Out of these anomalies, the unilateral segmental failure and the imbalanced multiple hemivertebrae and wedge vertebrae proved to show a marked development of the scoliotic deformities. Vertebral anomalies were confirmed in 26 of the 101 newborn infants whose mothers were treated with /sup 60/Co irradiation in the 10th or 11th day of the pregnancy. The vertebral anomalies were either unilateral segmental failure or butterfly vertebrae located mostly at the lower thoracic, lumbar or sacral spine. A scoliotic deformity of the spine developed during the rapid growth of the body in all rats with unilateral segmental failure. From the histological examinations, it was revealed that the asymmetrical potency of the growth in the malformed vertebra was a factor causing the spinal deformities.

Congenital hairy polyp of the oropharynx presenting as an esophageal mass in a neonate, a case report and literature review.

Science.gov (United States)

Richter, Amy; Mysore, Krupa; Schady, Deb; Chandy, Binoy

2016-01-01

To review the literature of congenital hairy polyps and describe the clinical presentation, operative management, and histologic findings of a congenital hairy polyp arising from the palatopharyngeus muscle in a neonate with recurrent choking episodes. Chart review of a 2-month-old male referred to a tertiary care pediatric hospital. We present a case of a 2-month-old male who presented to the emergency room with recurrent episodes of choking and vomiting. The patient was previously healthy with no prior medical or neonatal history. The parents noted a small fleshy mass in the patient's oropharynx that he would chew on and swallow after several minutes. However, on physical exam, there was no evidence of oropharyngeal mass. The patient did not have respiratory distress. Imaging revealed a 22×7×11mm oblong, fatty mass in the lower cervical and upper thoracic esophagus with a thin stalk extending proximally to the upper collapsed esophagus. Intraoperative recorded laryngoscopy revealed a pedunculated soft palate mass attached to the right superior palatopharyngeus muscle. Histopathology revealed ectodermal and mesodermal elements in a polypoid structure lined by keratinizing squamous epithelium with adnexal structures and central mature adipose tissue, consistent with congenital hairy polyp resembling an accessory tragus of the ear and branchial anomaly. At 6-week follow up, the patient was doing well and gaining weight appropriately with no further choking episodes. There was no evidence of velopharyngeal dysfunction on follow up exam. The surgical site was completely healed and there was no evidence of recurrence. Congenital hairy polyps of the naso- and oropharynx are rare but may present as airway or esophageal masses, causing respiratory distress or choking episodes in a pediatric patient. The pathologic findings of keratinizing squamous epithelium, adnexal structures, adipose and cartilage tissues resemble congenital accessory tragus and may be considered a

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.

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

Science.gov (United States)

Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

2018-02-01

Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

Directory of Open Access Journals (Sweden)

Alpen B. Patel

2011-01-01

Full Text Available Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

Etiology and prevalence rate of bilateral sensorineural hearing impairment in children born in Kobe city over a 10 year period

International Nuclear Information System (INIS)

Yoshioka, Mieko; Naito, Yashushi

2008-01-01

The study was carried out on children born over a 10 year period from 1997 to 2006 in Kobe city and referred to our center for specialist audiological assessment. A total of 107 cases had a bilateral sensorineural hearing impairment averaging 25 dB or over in the better hearing ear during the study period. To ascertain causes of sensorineural hearing impairment, full medical histories were obtained with detailed family history relevant to hearing impairment and perinatal course for adverse etiological factors. The children were investigated for possible congenital infection and chromosomal anomalies. Children with positive family history of deafness in parents or siblings constituted 11.2% of cases (genetic group). Other etiological groups showed the following distribution: syndromal group 5.6%; inner ear anomalies 5.6%; perinatal group 13.1%; congenital infection 11.2%; chromosomal anomalies 16.8%; multiple congenital anomalies 5.6%; causes unknown 30.9%. The high incidence of causes unknown indicates that steps should be taken to yield a diagnosis. The total number of children born in Kobe city was 117,896 during the period from 1997 to 2005, which gave a prevalence rate of hearing impairment of 0.87/1,000 births. Newborn hearing screening identified many children earlier and also provide the opportunity to finetune the evaluation. (author)

Coronary artery anomalies in adults: imaging at dual source CT coronary angiography

International Nuclear Information System (INIS)

Laspas, Fotios; Roussakis, Arkadios; Mourmouris, Christos; Kritikos, Nikolaos; Efthimiadou, Roxani; Andreou, John

2013-01-01

Congenital abnormalities of the coronary arteries have an incidence of 1%, and most of these are benign. However, a small number are associated with myocardial ischaemia and sudden death. Various imaging modalities are available for coronary artery assessment. Recently, multi-detector CT has emerged as an accurate diagnostic tool for defining coronary artery anomalies. The purpose of this pictorial essay is to review the dual source CT appearance of congenital anomalies of the coronary arteries in adults.

The role of MRI in suspected inner ear malformations

International Nuclear Information System (INIS)

Koesling, S.; Juettemann, S.; Amaya, B.; Rasinski, C.; Bloching, M.; Koenig, E.

2003-01-01

Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.) [de

Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.

Science.gov (United States)

Melzer, Jonathan M; Eliason, Michael; Conley, George S

2016-04-01

Waardenburg syndrome is a known autosomal dominant cause of congenital hearing loss. It is characterized by a distinctive phenotypic appearance and often involves sensorineural hearing loss. Temporal bone abnormalities and inner ear dysmorphisms have been described in association with the disease. However, middle ear abnormalities as causes of conductive hearing loss are not typically seen in Waardenburg syndrome. We discuss a case of an 8-year-old female who meets diagnostic criteria for Waardenburg syndrome type 3 and who presented with a bilateral conductive hearing loss associated with congenital stapes fixation. We discuss management strategy in this previously unreported phenotype. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

The prevalence of dental anomalies in the Western region of saudi arabia.

Science.gov (United States)

Afify, Ahmed R; Zawawi, Khalid H

2012-01-01

Objective. The aim of this cross-sectional study was to investigate the prevalence of dental anomalies that could be a cause of malocclusion in the western region of Saudi Arabia. Materials and Methods. A retrospective study of 878 digital orthopantomograms (OPGs) taken of patients, age ranging between 12 and 30 years, who presented to treatment at the Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia between 2002 and 2011. The OPGs and dental records were reviewed for congenitally missing teeth, supernumerary teeth, impactions, ectopic eruption, transposition, germination, fusion, dilacerations, taurodontism, dens in dent, and any other unusual conditions that can be assessed with OPG. Results. The prevalence of patient that exhibited at least one dental anomaly was 396 (45.1%) patients. The prevalence of congenitally missing teeth was 226 (25.7%), impacted teeth 186 (21.1%), dilacerated teeth 10 (1.1%), supernumerary teeth 3 (0.3%), odontoma 1 (0.1%), and taurodontism was also 1 case (0.1%) of the total radiographs reviewed. Conclusions. Congenitally missing teeth were found to be the most prevalent anomaly (25.7%), and the second frequent anomaly was impacted teeth (21.1%), whereas root dilacerations, supernumerary teeth, and taurodontism were the least frequent anomalies (1.1%, 0.3% and 0.1%, resp.).

Radiological findings of congenital urethral valves

International Nuclear Information System (INIS)

Yeon, Kyung Mo; Kook, Shin Ho

1990-01-01

Congenital urethral valve is the common cause of hydronephrosis in newborn infants and the most common cause of bladder outlet obstruction in male children. We reviewed and analysed radiological findings and associated anomalies of 16 cases of congenital urethral valve which were examined during the period from January 1985 to December 1989. The most frequent age was under one year old (56%). The main symptoms were urinary dribbing (37.5%), weak stream (25%) and urinary frequency and incontinence (25%). Anterior urethral valve (AUV) was 5 cases (31%) and posterior urethral valve (PUV) was 11 cases(69%), in which 10 cases were Type I and one case was Type III. Bladder wall thickening was seen in all cases and its severity was partly correlated with the degree of vesicoureteral reflux (VUR). VUR was observed in 12 cases (75%), and relatively severe in older age group. The degree of VUR was milder in AUV than PUV. Hydronephrosis was more severe in PUV than in anterior one, and its degree was correlated with the severity of VUR. Associated anomalies were ectopic urethral opening (2 cases), PDA (1 case), congenital megacolon (1 case) and patent urachus (1 case) in PUV. So early diagnosis and treatment of congenital urethral valve is essential to the prevention of renal damage

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

LENUS (Irish Health Repository)

Barisic, Ingeborg

2014-01-08

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340\\/355) live born, 0.8% (3\\/355) fetal deaths, 3.4% (12\\/355) terminations of pregnancy for fetal anomaly and 1.5% (5\\/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly\\/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia\\/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs\\/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia\\/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.European Journal of Human Genetics advance online publication, 8 January 2014; doi:10.1038\\/ejhg.2013.287.

Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly.

Science.gov (United States)

Thottam, Prasad John; Bathula, Samba S; Poulik, Janet M; Madgy, David N

2014-01-01

Branchial cleft anomalies make up 30% of all pediatric neck masses, but complete second branchial cleft anomalies are extremely rare. We report an unusual case of a complete second branchial cleft anomaly that presented as a draining neck fistula and a tonsillar cyst in an otherwise healthy 3-month-old girl. At the age of 7 months, the patient had been experiencing feeding difficulties, and there was increasing concern about the risk of persistent infections. At that point, the anomaly was excised in its entirety. Our suspicion that the patient had a complete second branchial cleft anomaly was confirmed by imaging, surgical excision, and histopathologic analysis.

Congenital anomalies, hereditary diseases of the pancreas, acute and chronic pancreatitis

International Nuclear Information System (INIS)

Brambs, Hans-Juergen; Juchems, Markus

2011-01-01

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.)

Congenital double bile duct presenting as recurrent cholangitis in a child

Directory of Open Access Journals (Sweden)

K.D. Chakravarty

2015-12-01

Full Text Available Double common bile duct (DCBD is a rare congenital anomaly. Most of these bile duct anomalies are associated with bile duct stones, anomalous pancreaticobiliary junction (APBJ, pancreatitis and bile duct or gastric cancers. Early detection and treatment is important to avoid long term complications. Surgical resection of the anomalous bile duct and reconstruction of the biliary enteric anastomosis is the treatment of choice. We report a rare case of DCBD anomaly in a girl, who presented with recurrent cholangitis. She had type Va DCBD anomaly. She underwent successful resection of the bile duct and reconstruction of the biliary enteric anastomosis. Preoperative imaging and diagnosis of the congenital biliary anomaly is very important to avoid intraoperative bile duct injury. Review of the literature shows very few cases of type Va DCBD, presenting with either bile duct stones or APBJ.

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.

Prevalence and pattern of congenital malformations among neonates in the neonatal unit of a teaching hospital

International Nuclear Information System (INIS)

Hussain, S.; Sabir, M.; Tarar, S. H.; Mushtaq, R.; Asghar, I.; Chattha, M. N.

2014-01-01

Objective: To determine the prevalence and pattern of congenital malformations among neonates in a teaching hospital. Methods: The prospective hospital-based study was conducted over a period of 18 months in the neonatal unit of Combined Military Hospital, Kharian, from September 2011 to February 2013. All neonates from newborn to 28 days of age admitted to the unit irrespective of their condition comprised the study population. Neonatal examination was done by the Registrar at the time of admission followed by neonatologist/paediatrician. Information regarding gender, weight, gestational age, mode of delivery, consanguinity, maternal age, antenatal visit record and family history were recorded on a predesigned proforma. After clinical examination, if required, relevant investigations like ultrasonography, radiology, echocardiography, laboratory and genetic studies were done to confirm diagnosis. Data was statistically analysed by using SPSS 20. Results: Out of 3,210 total admissions, 226 (7%) neonates were congenitally malformed. Of them, 130 (57.52 %) were male and 96 (42.47 %) females. Among different body systems affected, anomalies related to the central nervous system were 46(20.35%) musculoskeletal 42(18.58%), genitourinary 34 (15.04%), cardiovascular system 30 (13.27%), ear, eye, face, neck 27(11.94%), digestive system 19 (8.40%), syndromes and skin 14 (6.19%) each. Conclusion: Congenital Malformations are not rare in our community and central nervous system is the most commonly affected system. Healthcare managers must stress upon primary prevention in the form of vaccination, nutrition and drugs to decrease preventable share of congenital malformations. (author)

Epidemiological study of congenital heart defects in children and adolescents: analysis of 4,538 cases

Directory of Open Access Journals (Sweden)

Nelson Itiro Miyague

2003-03-01

Full Text Available OBJECTIVE: To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS: We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric hospital from January 1995 to December 1997. All patients with congenital heart defects had their diagnoses confirmed at least on echocardiography. The frequency and prevalence of the anomalies were computed according to the classification of sequential analysis. Age, weight, and sex were compared between the groups of healthy individuals and those with congenital heart defects after distribution according to the age group. RESULTS: Of all the children assessed, 2,017 (44.4% were diagnosed with congenital heart disease, 201 (4.4% with acquired heart disease, 52 (1.2% with arrhythmias, and 2,268 (50% were healthy children. Congenital heart diseases predominated in neonates and infants, corresponding to 71.5% of the cases. Weight and age were significantly lower in children with congenital heart defects. Ventricular septal defect was the most frequent acyanotic anomaly, and tetralogy of Fallot was the most frequent cyanotic anomaly. CONCLUSION: Children with congenital heart defects are mainly referred during the neonatal period and infancy with impairment in gaining weight. Ventricular septal defect is the most frequent heart defect.

Renal anomalies associated with imperforate anus : case reports

International Nuclear Information System (INIS)

Nahar, Nurun; Nisa, Lutfun; Alam, F.; Karim, M.A.

2002-01-01

Four cases of renal anomaly associated with anorectal malformation are illustrated here. The findings highlight the importance of early diagnosis of renal disorders in the pediatric with congenital anomalies in order to prevent irreversible damage to the kidneys. The high sensitivity of radionuclide diagnostic imaging methods in the early diagnosis of renal disorders and evaluation of renal function in children is emphasized.(author)

Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly.

Science.gov (United States)

Wertelecki, W; Dev, V G; Superneau, D W

1985-08-01

Abnormal centromere-chromatid apposition (ACCA) was noted in a patient with Peters' anomaly. Previous reports of ACCA emphasized its association with tetraphocomelia and other congenital malformations (Roberts, SC Phocomelia, Pseudothalidomide Syndromes). This report expands the array of congenital malformations associated with ACCA and emphasizes the diagnostic importance of ocular defects for the ascertainment of additional cases of ACCA and its possible relationship with abnormal cell division.

Congenital extrahepatic portosystemic shunts

Energy Technology Data Exchange (ETDEWEB)

Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

2003-09-01

A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

Congenital extrahepatic portosystemic shunts

International Nuclear Information System (INIS)

Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

2003-01-01

A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

A case of severe congenital kyphoscoliosis secondary to multiple bilateral thoracic pedicle aplasia

International Nuclear Information System (INIS)

Geoffray, Anne; Leloutre, Beatrice; Albertario, Marco; Bechard-Sevette, Nancy; Clement, Jean-Luc

2008-01-01

A 9-month-old boy with congenital kyphoscoliosis secondary to multiple bilateral thoracic pedicle aplasias is presented. This anomaly has rarely been described in the literature. Plain films showed absence of thoracic pedicles bilaterally from T2 to T9, which was better demonstrated on CT multiplanar and 3-D reformatted images. There were no neurological symptoms even though the deformity progressed rapidly. Congenital kyphosis or kyphoscoliosis is often related to spinal anomalies that are located on the anterior aspect of the vertebrae. However, posterior anomalies may also be responsible and should be recognized before neurological complications occur. (orig.)

Rehabilitation with ear prosthesis linked to osseointegrated implants.

Science.gov (United States)

Goiato, Marcelo C; dos Santos, Daniela M; Haddad, Marcela F; Moreno, Amália

2012-06-01

The absence of an ear, which can be the result of a congenital malformation, surgical tumour resection or traumatic injury, is a significant aesthetic problem. Attachment of ear prostheses with adhesives can cause local irritation for the wearer and affect the colour of the prostheses. Use of implants in craniofacial reconstruction can improve the retention and stability of prostheses giving to patient greater comfort and security relative to adhesive attachment. The aim of this report was to present a clinical case of a mutilated patient who was rehabilitated by means of installing an ear prosthesis fixed through osseointegrated implants. The patient had two implants installed in the mastoid region that were linked by a bar, and a clip-type system was used. The ear prosthesis was constructed from medical-use silicone, pigmented to match the patient's skin colour and linked to the retention system. The patient's rehabilitation was satisfactory from both a functional and an aesthetic point of view, making it possible for the patient to return to a normal social life and regain lost self-esteem. © 2012 The Gerodontology Society and John Wiley & Sons A/S.

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.

Basal encephalocele in an adult patient presenting with minor anomalies: a case report

Science.gov (United States)

2014-01-01

Introduction Basal encephalocele is rare in adults. Congenital and acquired cases have been reported with regard to the developmental mechanism, and the pathology has not been elucidated in detail. Case presentation We encountered an adult with basal encephalocele strongly suggesting congenital development because of the presence of minor anomalies: strabismus and ocular hypertelorism. The disease manifested as persistent spontaneous cerebrospinal fluid rhinorrhea and repeated meningitis in a 66-year-old Japanese man. On computed tomography, brain tissue protruded through a part of the ethmoid bone of his right anterior skull base, and it was diagnosed as transethmoidal-type basal encephalocele. Regarding his facial form, the distance between his bilateral eyeballs was large compared to his facial width, and his canthal index (defined as inner to outer inter canthal ratio × 100) was calculated as 38.5, based on which it was judged as ocular hypertelorism. In addition, his right eyeball showed strabismus. A right frontotemporal craniotomy was performed for spontaneous cerebrospinal fluid rhinorrhea, and the defective dura mater region was patched with temporal fascia. Conclusions Mild minor anomalies that require no treatment are overlooked in adults, but the presence of several anomalies increases the possibility of congenital disease. Therefore, it may be necessary to examine minor anomalies in cases of adult basal encephalocele when considering the possibility that the disease may be congenital. PMID:24468320

Congenital Morgagni's hernia in infants and children: a national review

African Journals Online (AJOL)

Background: Congenital Morgagni's hernia (CMH) is rare and has unique features in terms of clinical presentation, high incidence of bilaterality, and associated anomalies. This is a review of all CMH cases reported from Saudi Arabia, highlighting clinical features, associated anomalies, aspects of diagnosis, and ...

[Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina].

Science.gov (United States)

Campaña, Hebe; Pawluk, Mariela S; López Camelo, Jorge S

2010-10-01

The aim of the present work was to estimate the frequency of 27 birth defects in 7 geographical regions of Argentina. Observational, cross-sectional, descriptive design. A sample of 21,844 new born with birth defects was selected, ascertained from 855,220 births, between 1994 and 2007, in 59 hospitals belonging to the ECLAMC network. In order to identify regions of high frequency a Poisson regression was used, adjusted by different hospitals from the same region. The model included a time variable to detect secular trends and 6 dummy variables for 7 predefined geographical regions: Metropolitana (MET); Pampa (PAM); Centro (CEN); Cuyo (CUY); Noroeste (NOA); Nordeste (NEA) and Patagonia (PAT). High frequencies regional analysis showed the following significant results: PAM: severe hypospadias; CEN: spina bifida, microtia, cleft lip with cleft palate, polycystic kidney, postaxial polydactyly and Down syndrome; CUY: postaxial polydactyly; NOA: omphalocele, gastroschisis, cleft lip without cleft palate, cleft lip with cleft palate, anorectal atresia/stenosis, indeterminate sex, preaxial polydactyly and pectoral agenesis; PAT: cleft lip without cleft palate. Out of the 27 congenital anomalies analyzed, fourteen showed a frequency significatively higher in one or more regions.

Congenital maxillary double lip

Directory of Open Access Journals (Sweden)

Dinesh Singh Chauhan

2012-01-01

Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

Congenital pulmonary airway malformation in a 36 year-old female

OpenAIRE

Barreiro, Timothy J.; Henn, Lucas; Ingnam, Sisham; Sypert, Michael

2015-01-01

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation (CCAM), is an inborn abnormality of the lower respiratory system. Most often diagnosed in the perinatal period, these anomalies usually present with tachypnea, cyanosis, and respiratory distress. However, rare cases are asymptomatic and undiagnosed until adulthood.

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.

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.

Parental consanguinity and associated factors in congenital talipes equinovarus.

Science.gov (United States)

Sreenivas, T; Nataraj, A R

2012-03-01

The cause of congenital talipes equinovarus (CTEV) is multifactorial and, consanguinity could be one of the causative factors in its development. The purpose of this study was, to determine the prevalence of parental consanguinity in CTEV and other factors like associated, congenital anomalies, maternal and fetal factors and also the severity of CTEV in these patients. The above factors were studied in 54 patients of less than 1 month of age with parental, consanguinity and 91 feet were evaluated for its severity using Dimeglio classification at the time of presentation. Out of 174 children presented to our department with CTEV, 54 (31%) children were born out, of consanguineous marriage. Thirty seven (68.5%) patients had bilateral CTEV. Twenty five (46.3%), patients had associated congenital anomalies and myelomeningocele being the commonest anomaly, associated. Out of 91 feet 61 (67%) were of grade 4 severity. High grade of severity observed in both idiopathic and non idiopathic CTEV suggests the, probable role of consanguinity as an etiological factor in the development of CTEV especially in our, part of the world. Copyright © 2011 Elsevier Ltd. All rights reserved.

Current management of congenital branchial cleft cysts, sinuses, and fistulae.

Science.gov (United States)

Goff, Christopher J; Allred, Carly; Glade, Robert S

2012-12-01

Branchial anomalies comprise approximately 20% of pediatric congenital head and neck lesions. This study reviews current literature detailing the diagnosis and management of first, second, third and fourth branchial cysts, sinuses and fistulae. Branchial anomalies remain classified as first, second, third and fourth cysts, sinuses and fistulae. Management varies on the basis of classification. The imaging study of choice remains controversial. Computed tomography fistulography likely best demonstrates the complete course of the tract if a cutaneous opening is present. Treatment of all lesions has historically been by complete surgical excision of the entire tract. Studies of less invasive procedures for several anomalies are promising including sclerotherapy and endoscopic excision of second branchial cysts, and endoscopic cauterization or sclerotherapy at the piriform opening for third and fourth branchial sinuses. An increased risk of complications in children less than 8 years is reported in children undergoing open excision of third and fourth branchial anomalies. Branchial anomalies are common congenital pediatric head and neck lesions but are comprised by several diverse anomalies. Treatment must be tailored depending on which branchial arch is involved and whether a cyst mass or sinus/fistula tract is present.

Obstetric outcome of women with uterine anomalies in China.

Science.gov (United States)

Zhang, Yan; Zhao, Yang-yu; Qiao, Jie

2010-02-20

Congenital uterine anomalies are associated with the highest incidence of reproductive failure and obstetric complications. This study aimed to summarize the clinical characteristics and prenatal outcome of pregnancy in women with congenital uterine malformations. This retrospective study evaluated the fertility and obstetric outcome of 116 inpatients with uterine malformations with pregnancy in Peking University Third Hospital from June 1998 to June 2009. A total of 270 randomly selected pregnant women with a previously confirmed normally shaped uterus as a control group. Student's t test and analysis of variance (ANOVA) were used to compare means for normally distributed variables. The analysis was carried out using the SPSS. Among 21 961 deliveries in Peking University Third Hospital, 116 (0.45%) were in women with uterine anomalies. A septate uterus was present in 43 (37.1%) and the uterus didelphys in 28 (24.2%) of the 116 women identified. Bicornuate uterus, arcuate and unicomate uterus were observed in 12 (10.3%), 18 (15.5%) and 15 (12.9%) patients, respectively. Patients with uterine anomalies had significantly higher rates of malpresentation (38.8%), preterm delivery (19.8%), and cesarean section (78.5%) compared with the group of women with a normal uterus. Patients with uterine anomalies had significantly lower mean birth-weight neonates and a significantly higher incidence of small for gestationalage (SGA) neonates; women with uterus didelphys more frequently required infertility treatment than patients with other uterine anomalies (P unicorns (P < 0.05). Women with congenital uterinemal formation usually have higher incidence of complications during pregnancy and delivery. A septate uterus appears to be associated with poorer obstetric outcomes.

Evaluation of CT-scanning of the temporal bone in the diagnosis of ear diseases

International Nuclear Information System (INIS)

Murata, Kiyotaka; Isono, Michio; Nishimae, Tadahide; Tamaki, Katsuhiko; Hosoi, Hiroshi; Ohta, Fumihiko

1983-01-01

CT-scanning of 96 temporal bones was carried out to reveal the extension of cholesteatoma, periossicular drainage, fracture lines, enlarged internal acoustic meatus and anomalies of labyrinthine capsules and ossicles. The clinical aspects of CT-scanning of the temporal bone (CTTB) were as follows: 1) Inner ear anomalies were observed in 17 temporal bones of unilateral deafness, high tone loss from unknown origin and fluctuant hearing loss. CTTB may explain the pathology of deafness from unknown origin. 2) Inner ear anomalies may be classified into more detailed groups than before. 3) The extension of cholesteatoma, localization and size of labyrinthine fistula can be estimated prior to surgery. 4) Cholesteatoma in a mastoidectomy cavity may be detected. 5) The malleus and incus may be visualized, although the stapes can hardly be found. 6) Fracture lines of a temporal bone, destruction of the internal acoustic meatus may be clearly detected. (author)

High risk for major nonlimb anomalies associated with lower-limb deficiency: a population-based study.

Science.gov (United States)

Syvänen, Johanna; Nietosvaara, Yrjänä; Ritvanen, Annukka; Koskimies, Eeva; Kauko, Tommi; Helenius, Ilkka

2014-11-19

The aims of this study were to determine the prevalence of congenital lower-limb reduction defects and associated mortality, to evaluate lower-limb deficiencies by type of reduction, and to identify patterns of associated anomalies. We conducted a population-based study with use of data from the Finnish Register of Congenital Malformations and Care Register for Health Care. All cases of lower-limb deficiency among live births, stillbirths, spontaneous abortions, and terminations of pregnancy due to fetal anomalies from 1993 to 2008 were included. We analyzed medical records and classified lower-limb reduction defects. Associated major anomalies were recorded, and perinatal mortality and infant mortality were calculated. Two hundred and sixty-six cases with lower-limb deficiency were identified, with a total prevalence of 2.8 per 10,000 births, a birth prevalence of 2.2 per 10,000 births, and a live-birth prevalence of 2.1 per 10,000 live births. Terminal transverse limb reductions accounted for 44.7% of the cases; longitudinal reductions, 22.9%; intercalary reductions, 7.9%; multiple reductions, 8.3%; and split-foot malformations, 4.5%. In addition to lower-limb deficiency, 47.7% of the cases had other major anomalies; anomalies of internal organs were noted in 26.3% of the cases, anomalies of the axial skeleton in 13.5% of cases, and central nervous system anomalies in 12.8%. Upper-limb reductions were observed in 32.0% of the cases. The relative risk (RR) for associated major anomalies was 12.54 (95% confidence interval [CI], 11.06 to 14.23) compared with the general figures for major congenital anomalies in Finland. The RR for associated anomalies was higher (1.75; 95% CI, 1.20 to 2.53) for longitudinal preaxial lower-limb deficiencies than for the other types of lower-limb reductions. Perinatal mortality was seventy-eight per 1000 births. All infant deaths were associated with chromosomal abnormalities, other known syndromes, or additional congenital

Surgical management of complete penile duplication accompanied by multiple anomalies.

Science.gov (United States)

Karaca, Irfan; Turk, Erdal; Ucan, A Basak; Yayla, Derya; Itirli, Gulcin; Ercal, Derya

2014-09-01

Diphallus (penile duplication) is very rare and seen once every 5.5 million births. It can be isolated, but is usually accompanied by other congenital anomalies. Previous studies have reported many concurrent anomalies, such as bladder extrophy, cloacal extrophy, duplicated bladder, scrotal abnormalities, hypospadias, separated symphysis pubis, intestinal anomalies and imperforate anus; no penile duplication case accompanied by omphalocele has been reported. We present the surgical management of a patient with multiple anomalies, including complete penile duplication, hypo-gastric omphalocele and extrophic rectal duplication.

You are never too old for a congenital disease!

Directory of Open Access Journals (Sweden)

Mukul Khanna

2013-12-01

Full Text Available Congenital diseases are sometimes overlooked by physicians because of their rarity or because of late onset of symptoms, which may delay treatment plans. This is illustrated in our patient who presented with dysphagia along with chest pain and who was found to have a congenital vascular anomaly, detected in her fifth decade of life.

Characteristics and application of inner ear CT in 20 cases of sensorineural hearing loss in children.

Science.gov (United States)

Huo, Liang; Wang, Hua

2012-12-01

This study shows that a number of children with sensorineural hearing loss (SNHL) have inner ear malformations demonstrated by multi-slice spiral computed tomography (MSCT). MSCT allows a comprehensive assessment of various congenital inner ear malformations through high quality multiplanar reformation (MPR) and can display the site and degree of the malformation three-dimensionally and intuitively. This is very useful for cochlear implantation. To evaluate the feasibility and usability of MSCT in pediatric SNHL with inner ear malformations. Sixty-five patients were diagnosed with SNHL by brainstem auditory evoked response (BAER). Inner ear MSCT scan and coronal MPR reconstruction were performed in all cases. This study demonstrated 20 cases (33 ears) with inner ear malformations, which included 10 ears with cochlear malformations, 7 with vestibular malformations, 5 with semicircular canal malformations, 8 with internal auditory canal (IAC) malformations, and 15 with vestibular malformations. Cochlear malformations included one ear with Michel deformity, two ears with common cavity deformity, one with cochlear aplasia, one with hypoplastic cochlea, two with incomplete partition type I, and three with incomplete partition type II (Mondini deformity).

Congenital Symmastia: A 3-Step Approach

OpenAIRE

Sadaka, Mohamed Saad; Allam, Atef A.

2016-01-01

Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this con...

Congenital Symmastia: A 3-Step Approach

Science.gov (United States)

Allam, Atef A.

2016-01-01

Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition. PMID:28293510

Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism

Directory of Open Access Journals (Sweden)

Giovanni Bianchin

2015-01-01

Full Text Available We describe the novel solution adopted in positioning middle ear implant in a child with bilateral congenital aural atresia and craniofacial dysmorphism that have posed a significant challenge for the safe and correct management of deafness. A five-year-old child, affected by a rare congenital disease (Van Maldergem Syndrome, suffered from conductive hearing loss. Conventional skin-drive bone-conduction device, attached with a steel spring headband, has been applied but auditory restoration was not optimal. The decision made was to position Vibrant Soundbridge, a middle ear implant, with an original surgical application due to hypoplasia of the tympanic cavity. Intubation procedure was complicated due to child craniofacial deformities. Postoperative hearing rehabilitation involved a multidisciplinary team, showing improved social skills and language development.

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.

Congenital megalourethra in 2 weeks old boy associated with Prune-Belly syndrome

Directory of Open Access Journals (Sweden)

Lawal Barau Abdullahi

2015-02-01

Full Text Available The megalourethra is a rare congenital anomaly of the penile urethra. It is characterized by the congenital absence of the corpus spongiosum and/or corpus cavernosum. It is especially common associated with Prune-Belly syndrome, and with upper tract abnormalities. We present a 2 weeks old boy with congenital megalourethra because of its association with the Prune-Belly syndrome.

Contrast-enhanced time-resolved 4D MRA of congenital heart and vessel anomalies: image quality and diagnostic value compared with 3D MRA

Energy Technology Data Exchange (ETDEWEB)

Vogt, Florian M.; Hunold, Peter; Barkhausen, Joerg [University Hospital Schleswig-Holstein, Clinic for Radiology and Nuclear Medicine, Luebeck (Germany); Theysohn, Jens M.; Kinner, Sonja [University Hospital Essen, Department of Diagnostic and Interventional Radiology and Neuroradiology, Essen (Germany); Michna, Dariusz [Elisabeth Hospital, Department of Neonatology, Essen (Germany); Neudorf, Ulrich [University Hospital Essen, Clinic for Pediatrics III, Essen (Germany); Quick, Harald H. [University of Erlangen-Nuernberg, Institute of Medical Physics, Erlangen (Germany)

2013-09-15

To evaluate time-resolved interleaved stochastic trajectories (TWIST) contrast-enhanced 4D magnetic resonance angiography (MRA) and compare it with 3D FLASH MRA in patients with congenital heart and vessel anomalies. Twenty-six patients with congenital heart and vessel anomalies underwent contrast-enhanced MRA with both 3D FLASH and 4D TWIST MRA. Images were subjectively evaluated regarding total image quality, artefacts, diagnostic value and added diagnostic value of 4D dynamic imaging. Quantitative comparison included signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR) and vessel sharpness measurements. Three-dimensional FLASH MRA was judged to be significantly better in terms of image quality (4.0 {+-} 0.6 vs 3.4 {+-} 0.6, P < 0.05) and artefacts (3.8 {+-} 0.4 vs 3.3 {+-} 0.5, P < 0.05); no difference in diagnostic value was found (4.2 {+-} 0.4 vs 4.0 {+-} 0.4); important additional functional information was found in 21/26 patients. SNR and CNR were higher in the pulmonary trunk in 4D TWIST, but slightly higher in the systemic arteries in 3D FLASH. No difference in vessel sharpness delineation was found. Although image quality was inferior compared with 3D FLASH MRA, 4D TWIST MRA yields robust images and added diagnostic value through dynamic acquisition was found. Thus, 4D TWIST MRA is an attractive alternative to 3D FLASH MRA. (orig.)

A Case of Multiple Cardiovascular and Tracheal Anomalies Presented with Wolff-Parkinson-White Syndrome in a Middle-aged Adult.

Science.gov (United States)

Shi, Hyejin; Sohn, Sungmin; Wang, SungHo; Park, Sungrock; Lee, SangKi; Kim, Song Yi; Jeong, Sun Young; Kim, Changhwan

2017-12-01

Congenital cardiovascular anomalies, such as dextrocardia, persistent left superior vena cava (SVC), and pulmonary artery (PA) sling, are rare disorders. These congenital anomalies can occur alone, or coincide with other congenital malformations. In the majority of cases, congenital anomalies are detected early in life by certain signs and symptoms. A 56-year-old man with no previous medical history was admitted due to recurrent wide QRS complex tachycardia with hemodynamic collapse. A chest radiograph showed dextrocardia. After synchronized cardioversion, an electrocardiogram revealed Wolff-Parkinson-White (WPW) syndrome. Persistent left SVC, PA sling, and right tracheal bronchus were also detected by a chest computed tomography (CT) scan. He was diagnosed with paroxysmal supraventricular tachycardia (PSVT) associated with WPW syndrome, and underwent radiofrequency ablation. We reported the first case of situs solitus dextrocardia coexisting with persistent left SVC, PA sling and right tracheal bronchus presented with WPW and PSVT in a middle-aged adult. In patients with a cardiovascular anomaly, clinicians should consider thorough evaluation of possibly combined cardiovascular and airway malformations and cardiac dysrhythmia. © 2017 The Korean Academy of Medical Sciences.

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

C syndrome with skeletal anomalies, mental retardation, eyelid ...

African Journals Online (AJOL)

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot's spots and agenesis of the corpus callosum in an Egyptian child. ... broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect.

Brain lesions in congenital nystagmus as detected by computed tomography

International Nuclear Information System (INIS)

Lo, Chin-Ying

1982-01-01

Computed tomography (CT) was performed in a series of 60 cases with congenital nystagmus. The type of nystagmus was pendular in 20 and jerky in 40 cases. The age ranged from 3 months to 13 years. Abnormal CT findings of the central nervous system were detected in 31 cases (52%). There were 5 major CT findings: midline anomalies, cortical atrophy, ventricular dilatation, brain stem atrophy and low density area. The midline anomalies involved cavum septi pellucidi, cavum Vergae, cavum veli interpositi and partial agenesis of corpus callosum. The abnormal CT findings were more prominent in pendular type than in jerky type. The incidence of congenital nystagmus and positive CT findings were the same in the first and the second birth. There was a history of abnormalities during the prenatal or perinatal period in 28 out of the 60 cases (47%). This feature seemed to play a significant role in the occurrence of congenital nystagmus. The observed organic lesions in the central nervous system by CT would contribute to the elucidation of pathomechanism of congenital nystagmus. (author)

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

African Journals Online (AJOL)

Infants, including abnormal neonates, born on the days when no infants were ... defined as any gross developmental defect apparent on ... Multiple congenital abnormalities. 9. 1,18 ... chromosomal disorders included a trisomy 13, a trisomy 18.

Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

Science.gov (United States)

Brodsky, Michael C; Turan, Kadriye Erkan; Khanna, Cheryl L; Patton, Alice; Kirmani, Salman

2014-08-01

We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis. Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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...... in the Netherlands until 2007. We have analysed data for a 14-year period from the EUROCAT registries to investigate the effect of the introduction of screening for CA on the perinatal mortality rate in the Netherlands and compared the results with those from other European registries. METHODS: We used data from...... of 1.35 per 1000 births in the period 1998-2006 to 1.15 per 1000 births in the period 2007-2011. In the northern Netherlands, it dropped from 1.73 per 1000 births in the period 1998-2006 to 1.00 per 1000 births in the period 2007- 2011. In 2011, the perinatal mortality associated with CA...

Murine CMV-induced hearing loss is associated with inner ear inflammation and loss of spiral ganglia neurons.

Directory of Open Access Journals (Sweden)

Russell D Bradford

2015-04-01

Full Text Available Congenital human cytomegalovirus (HCMV occurs in 0.5-1% of live births and approximately 10% of infected infants develop hearing loss. The mechanism(s of hearing loss remain unknown. We developed a murine model of CMV induced hearing loss in which murine cytomegalovirus (MCMV infection of newborn mice leads to hematogenous spread of virus to the inner ear, induction of inflammatory responses, and hearing loss. Characteristics of the hearing loss described in infants with congenital HCMV infection were observed including, delayed onset, progressive hearing loss, and unilateral hearing loss in this model and, these characteristics were viral inoculum dependent. Viral antigens were present in the inner ear as were CD(3+ mononuclear cells in the spiral ganglion and stria vascularis. Spiral ganglion neuron density was decreased after infection, thus providing a mechanism for hearing loss. The lack of significant inner ear histopathology and persistence of inflammation in cochlea of mice with hearing loss raised the possibility that inflammation was a major component of the mechanism(s of hearing loss in MCMV infected mice.

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.

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...

Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.

NARCIS (Netherlands)

Glueckert, R.; Rask-Andersen, H.; Sergi, C.; Schmutzhard, J.; Mueller, B.; Beckmann, F.; Rittinger, O.; Hoefsloot, L.H.; Schrott-Fischer, A.; Janecke, A.R.

2010-01-01

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)

Regional Variations in the Prevalence of Major Congenital Malformations in Quebec: The Importance of Fetal Growth Environment.

Science.gov (United States)

Zhao, Jin-Ping; Sheehy, Odile; Bérard, Anick

2015-01-01

Congenital anomalies are the consequence of a complex interaction between genetic predisposition and fetal environment. Based on the Congenital Anomalies Surveillance in Canada Report, between 1998 and 2007 the rate of congenital heart defects in Quebec was significantly higher than the Canadian average; no data on the overall prevalence of congenital anomalies for Quebec or data on regional variations in any province are available. To estimate the prevalence of major congenital malformations (MCMs) in all of the 17 administrative regions of Quebec. Using data from the Quebec Pregnancy Cohort, we included infants if they were born between January 1, 1998 and December 31, 2008. MCMs were identified within the infant's first year of life using validated ICD-9 and ICD-10 codes. The rate of MCMs was calculated and stratified on Quebec's administrative regions. Among 152,353 eligible infants, the prevalence of MCMs was 36.6 (all rates were reported as per 1,000 live births). The regions with the highest rate of MCMs were Lanaudière (48.1), Laval (45.8), and Mauricie (45.1). Regions with the lowest rate were Outaouais (13.4), Côte-Nord (19.1), Abitibi-Témiscamingue (27.5), Gaspésie-îles-de-la-Madeleine (27.9), and Saguenay-Lac-Saint-Jean (28.9). Congenital heart defects (10.3) and musculoskeletal anomalies (12.6) were the most common. Laval had the highest rate of heart defects (16.1), and Lanaudière had the highest rate of musculoskeletal anomalies (22.0). The central regions of Quebec had high rate of MCMs, whereas the relatively genetically homogenous peripheral regions of Quebec had lower rate of MCM, suggesting the importance of fetal growth environment in the etiology of MCMs in Quebec.

Atrialised right ventricular myxoma in a patient with Ebstein’s anomaly

Directory of Open Access Journals (Sweden)

T-J John

2018-03-01

Full Text Available Ebstein’s anomaly is a rare entity affecting around 1 in 200,000 live births and accounts for less than 1% of congenital heart diseases. Ebstein’s anomaly with an associated right-sided myxoma is extremely rare, with only one other case report found in the literature. Previous reports have also noted cases of Ebstein’s anomaly associated with left-sided myxomas. We describe a female patient with, to our knowledge, the first case of a histopathologically confirmed right ventricular myxoma in the setting of Ebstein’s anomaly.

Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings.

Science.gov (United States)

Adams, Ashok; Mankad, Kshitij; Offiah, Curtis; Childs, Lucy

2016-02-01

The branchial arches are the embryological precursors of the face, neck and pharynx. Anomalies of the branchial arches are the second most common congenital lesions of the head and neck in children, with second branchial arch anomalies by far the most common. Clinically, these congenital anomalies may present as cysts, sinus tracts, fistulae or cartilaginous remnants with typical clinical and radiological findings. We review the normal embryological development of the branchial arches and the anatomical structures of the head and neck that derive from each arch. The typical clinical and radiological appearances of both common and uncommon branchial arch abnormalities are discussed with an emphasis on branchial cleft anomalies. • Anomalies of the branchial arches usually present as cysts, sinuses or fistulae. • Second branchial arch anomalies account for approximately 95 % of cases. • There are no pathognomonic imaging features so diagnosis depends on a high index of suspicion and knowledge of typical locations. • Persistent cysts, fistulae or recurrent localised infection may be due to branchial arch anomalies. • Surgical excision of the cyst or tract is the most common curative option.

Congenital duodenal diaphragm in eight children

International Nuclear Information System (INIS)

Nawaz, Akhtar; Matta, Hilal; Jacobsz, Alic; Al-Salem, Ahmad H.; Trad, Omar

2004-01-01

Congenital duodenal obstruction (CDO) is common and usually easy to diagnose cause of intestinal obstruction in the newborn, except when the cause of the obstruction is duodenal diaphragm. We describe our experience with eight children who had intrinsic duodenal obstruction secondary to a duodenal diaphragm. The medical record of 22 children with the diagnosis of congenital intrinsic duodenal were reviewed for age, sex, gestation, birth weight, clinical features, associated anomalies, method of diagnosis, treatment and outcome. Operative findings and procedures were obtained from the operative notes. Eight of 22 children (36.4%) had congenital duodenal diaphragm (CDD). In all children, the diagnosis was made from the plain abdominal X-ray, which showed the classic double-bubble appearence, and barium meal, which showed duodenal obstruction. Four patients had associated anomalies, including two with Down's syndrome intraoperatively, five patients were found to have duodenal diaphragm with a central hole, while the other three had complete duodenal diaphragms. Postoperatively, all patients did well. Six required total parenteral nutrition. The 100% survival rate among these children is comparable to that in Western countries, and can be attributed to the lack of major associated abnormalities, good perioperative management, and the availability of total parenteral nutrition. (author)

A histological study of scala communis with radiological implications.

Science.gov (United States)

Makary, Chadi; Shin, Jennifer; Caruso, Paul; Curtin, Hugh; Merchant, Saumil

2010-01-01

Scala communis or interscalar septum (IS) defect is a developmental abnormality of the inner ear characterized by a dehiscence in the partition separating the turns of the cochlea. The goals of the present study were to (1) study this anomaly and describe its characteristics compared to control ears using a histological analysis of temporal bones, (2) discuss radiological implications regarding its diagnosis, and (3) describe its embryological derivation. Out of 1775 temporal bones assessed, 22 specimens were found to have scala communis in cochleae containing all 3 turns (basal, middle and apical). These 22 ears were studied in detail by qualitative and quantitative methods using light microscopy. Scala communis occurred as an isolated inner ear anomaly, or in association with other congenital cochlear and/or vestibular anomalies. The defect occurred most often between the middle and apical turns of the cochlea. Compared to control ears, scala communis ears were found to have a smaller modiolar area (p Scala communis was compatible with normal hearing. Flattening of the interscalar ridge has the potential to improve the diagnosis of scala communis in patients using CT scanning. The anomaly may result from a mesodermal defect such as excessive resorption of mesenchyme during the formation of the scalae, an error in the formation of bone, or both. Copyright © 2010 S. Karger AG, Basel.

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