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Sample records for congenital anomalies review

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

    PubMed

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

    2016-07-01

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

  2. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

  3. Endometrial cancer with congenital uterine anomalies: three case reports and a literature review.

    PubMed

    Gao, Jinping; Zhang, Jintian; Tian, Wenyan; Teng, Fei; Zhang, Huiying; Zhang, Xuhong; Wang, Yingmei; Xue, Fengxia

    2017-01-24

    Background Uterine malformation is a rare deformity in woman, and only a few cases concerning endometrial cancer arising in patients with congenital uterine anomalies have been reported. Herein, we present three cases of endometrial cancer with different congenital uterine anomalies, and review studies involving congenital uterine anomalies associated with endometrial cancer in the past 25 years, in order to identify similarities and differences in clinicopathologic characteristics and prognosis between endometrial cancer associated with uterine anomalies, and normal uterus.

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

    PubMed

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

    2017-01-01

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

  5. Chlorination Disinfection By-Products in Drinking Water and Congenital Anomalies: Review and Meta-Analyses

    PubMed Central

    Nieuwenhuijsen, Mark J.; Martinez, David; Grellier, James; Bennett, James; Best, Nicky; Iszatt, Nina; Vrijheid, Martine; Toledano, Mireille B.

    2009-01-01

    Objectives The aim of this study was to review epidemiologic evidence, provide summary risk estimates of the association between exposure to chlorination disinfection by-products (DBPs) and congenital anomalies, and provide recommendations for future studies. Data sources and extraction We included all published epidemiologic studies that evaluated a relationship between an index of DBP exposure (treatment, water source, DBP measurements, and both DBP measurements and personal characteristics) and risk of congenital anomalies. When three or more studies examined the same exposure index and congenital anomaly, we conducted a meta-analysis to obtain a summary risk estimate comparing the highest exposure group with the lowest exposure group. When five or more studies examined total trihalomethane (TTHM) exposure and a specific congenital anomaly, we conducted a meta-analysis to obtain exposure–response risk estimates per 10 μg/L TTHM. Data synthesis For all congenital anomalies combined, the meta-analysis gave a statistically significant excess risk for high versus low exposure to water chlorination or TTHM [17%; 95% confidence interval (CI), 3–34] based on a small number of studies. The meta-analysis also suggested a statistically significant excess risk for ventricular septal defects (58%; 95% CI, 21–107), but this was based on only three studies, and there was little evidence of an exposure–response relationship. We observed no statistically significant relationships in the other meta-analyses. We found little evidence for publication bias, except for urinary tract defects and cleft lip and palate. Conclusion Although some individual studies have suggested an association between chlorination disinfection by-products and congenital anomalies, meta-analyses of all currently available studies demonstrate little evidence of such an association. PMID:20019896

  6. Common Congenital Anomalies

    PubMed Central

    Lowry, R. B.

    1985-01-01

    Congenital anomalies account for a substantial proportion of childhood morbidity and mortality. They have become proportionately larger because of the decline of such other categories as infections or birth trauma. Approximately 3% of newborns have a serious handicapping or potentially lethal condition; in longterm studies the frequency is much higher. There is no good evidence to suggest that the rates of congenital anomalies are increasing, although this is a common perception. This article discusses diagnosis and management (especially genetic implications) of heart defects, neural tube defects, orofacial clefting, dislocated hip, clubfoot, and hypospadias. PMID:21274150

  7. Ebstein anomaly: a review.

    PubMed

    Galea, Joseph; Ellul, Sarah; Schembri, Aaron; Schembri-Wismayer, Pierre; Calleja-Agius, Jean

    2014-01-01

    Cardiac congenital abnormalities are a leading cause in neonatal mortality occurring in up to 1 in 200 of live births. Ebstein anomaly, also known as Kassamali anomaly, accounts for 1 percent of all congenital cardiac anomalies. This congenital abnormality involves malformation of the tricuspid valve and of the right ventricle. In this review, the causes of the anomaly are outlined and the pathophysiology is discussed, with a focus on the symptoms, management, and treatments available to date.

  8. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  9. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  10. Congenital pancreatic anomalies, variants, and conditions.

    PubMed

    Alexander, Lauren F

    2012-05-01

    Understanding pancreatic development and the congenital anomalies and variants that result from alterations in normal development allows for better recognition of these anomalies at diagnostic imaging. This article reviews normal pancreatic embryology and anatomy, and the appearance of the more common developmental anomalies and ductal variants, with emphasis on computed tomography and magnetic resonance imaging. Common mimics of masses are also covered.

  11. Insulin analogues in pregnancy and specific congenital anomalies: a literature review.

    PubMed

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

    2016-05-01

    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 included 1286 foetuses of mothers using short-acting insulin analogues with 1089 references of mothers using human insulin and 768 foetuses of mothers using long-acting insulin analogues with 685 references of mothers using long-acting human insulin (Neutral Protamine Hagedorn). The congenital anomaly rate was 4.84% and 4.29% among the foetuses of mothers using lispro and aspart. For glargine and detemir, the congenital anomaly rate was 2.86% and 3.47%, respectively. No studies on the use of insulin glulisine and degludec in pregnancy were found. There was no statistically significant difference in the congenital anomaly rate among foetuses exposed to insulin analogues (lispro, aspart, glargine or detemir) compared with those exposed to human insulin or Neutral Protamine Hagedorn insulin. The total prevalence of congenital anomalies was not increased for foetuses exposed to insulin analogues. The small samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies.

  12. Radionuclide imaging of rare congenital renal fusion anomalies.

    PubMed

    Volkan, Bilge; Ceylan, Emel; Kiratli, Pinar Ozgen

    2003-03-01

    Demonstration of a congenital renal anomaly plays an important role in the treatment of patients with renal infection. These patients are prone to infections because of coexisting urinary tract anomalies such as duplicated ureter, ureter opening anomalies, and urinary stasis. Assessment of renal parenchymal damage resulting from acute or chronic renal infection is the primary indication for radionuclide imaging with Tc-99m DMSA. In addition, this technique allows congenital anomalies to be identified. The authors review congenital renal fusion anomalies identified in children through Tc-99m DMSA imaging. They conclude that Tc-99m DMSA imaging can reveal important diagnostic information about various congenital anomalies, including fusion anomalies.

  13. Congenital basis of posterior fossa anomalies

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    Ozer, Pinar A; Yalniz-Akkaya, Zuleyha

    2015-07-01

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

  15. MR imaging of the female pelvis: current perspectives and review of genital tract congenital anomalies, and benign and malignant diseases.

    PubMed

    Patel, V H; Somers, S

    1997-10-01

    MR imaging continues to be an integral problem-solving modality in the evaluation of congenital anomalies and acquired diseases of the female genital tract organs and provides effective clinical information to the practicing gynecologist in those patients in whom sonography is technically suboptimal or the results are equivocal. This article describes the state-of-the art MR imaging of the female pelvis and addresses its current perspectives in the following sections: (1) technical aspects of MR in imaging the female pelvis, (2) normal pelvic anatomy and variations that are seen on MRI, (3) role of MRI in the diagnosis of congenital uterine and vaginal anomalies, (4) MR imaging approach to diagnose congenital uterine and vaginal anomalies, (5) advantages and limitations of MR in the evaluation of various benign diseases and malignant neoplasms of the female genital tract, (6) a MR staging system and criteria for each gynecologic malignancy, (7) fundamental MR criteria to differentiate benign from malignant tumors and recurrent tumors from fibrosis, and (8) the present cost-effective value of MR in pregnancy and obstetrics. Magnetic resonance (MR) technology continues to be an important problem-solving modality in the evaluation of benign, malignant, and recurrent diseases of the female pelvic organs with the development of new software and improved hardware over the last few years. The main issues addressed in this article are (1) to review the basic and expanded applications of the current state-of-the art MR imaging in the diagnosis and management of various congenital and acquired disorders of the female pelvic organs, (2) to illustrate a simplified clinico-radiologic (MRI) approach to the diagnosis of congenital and acquired pathologies of the pelvic organs, (3) to provide relevant information to the clinicians to make rational choices among the competing imaging modalities, and (4) to outline the future potential of this modality in the pelvis.

  16. Congenital anomalies: hospitalization in a pediatric unit.

    PubMed

    Polita, Naiara Barros; Ferrari, Rosângela Aparecida P; de Moraes, Priscila Santa; Sant'Anna, Flávia Lopes; Tacla, Mauren Teresa G M

    2013-06-01

    To analyze the profile of children with congenital anomalies admitted to a pediatric unit. This is a quantitative and retrospective research. The sample consisted of records of children aged from 0 to 12 years old who were hospitalized in the pediatric unit of the University Hospital of Londrina, Paraná, Southern Brazil, from 2007 to 2009. Data were collected by chart review processed in the Epi-Info® program, and they were submitted to descriptive statistical analysis. There were 282 first admissions of children with congenital anomalies. Of these, 130 (46.0%) required readmission totaling therefore 412 hospitalizations. The mean stay was three days. There was a male predominance, and the age range was from three to seven years old. The most frequent congenital anomalies were in the genital and urinary systems (19.6%), followed by cleft lip and palate (17.3%), and those of the circulatory system (16.2%). There were 269 surgical procedures to correct there anomalies. This study underscores the epidemiological importance of congenital malformations, highlighting the need to prevent and control the triggering factors.

  17. Congenital anomalies in Primorsky region.

    PubMed

    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

  18. Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling

    PubMed Central

    Upasani, Vidyadhar V; Ketwaroo, Pamela Deaver; Estroff, Judy A; Warf, Benjamin C; Emans, John B; Glotzbecker, Michael P

    2016-01-01

    The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician’s ability to counsel expectant parents prenatally. PMID:27458551

  19. Congenital renal anomalies detected in adulthood

    PubMed Central

    Muttarak, M; Sriburi, T

    2012-01-01

    Objective To document the types of congenital renal anomalies detected in adulthood, the clinical presentation and complications of these renal anomalies, and the most useful imaging modality in detecting a renal anomaly. Materials and methods This study was approved by the institutional review board and informed consent was waived. Between January 2007 and January 2011, the clinical data and imaging studies of 28 patients older than 18 years diagnosed with renal anomaly at the authors’ institution were retrospectively reviewed. Renal anomalies in this study included only those with abnormality in position and in form. Results Of these 28 patients, 22 underwent imaging studies and their results constituted the material of this study. Of the 22 patients, 14 had horseshoe kidneys (HSK), four had crossed renal ectopia and four had malrotation. Sixteen patients were men and six were women. The patients ranged in age from 19 to 74 years (mean age 51.1 years). Clinical presentations were abdominal pain (13), fever (13), haematuria (4), palpable mass (2), asymptomatic (2), polyuria (1) dysuria (1), blurred vision (1), and headache with weakness of left extremities (1). Imaging studies included abdominal radiograph (15), intravenous pyelography (IVP) (8), retrograde pyelography (RP) (4), ultrasonography (US) (7), and computed tomography (CT) (9). Associated complications included urinary tract stones (17), urinary tract infection (16), hydronephrosis (12), and tumours (2). Abdominal radiograph suggested renal anomalies in nine out of 15 studies. IVP, RP, US and CT suggested anomalies in all patients who had these studies performed. However, CT was the best imaging modality to evaluate anatomy, function and complications of patients with renal anomalies. Conclusion HSK was the most common renal anomaly, with abdominal pain and fever being the most common presentations. UTI and stones were the most common complications. IVP, RP, US and CT can be used to diagnose renal

  20. Congenital anomalies surveillance in Canada.

    PubMed

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  1. Ectopia cordis: a rare congenital anomaly.

    PubMed

    Gabriel, Abigail; Donnelly, Joseph; Kuc, Alexander; Good, Daniel; Doros, Gabriela; Matusz, Petru; Loukas, Marios

    2014-11-01

    Ectopia cordis (EC) is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. The ectopic heart can be found along a spectrum of anatomical locations, including the cervical, thoracic and abdominal regions and in most cases, it protrudes outside the chest through a split sternum. Although the first case of EC was identified during the early 1600s only 91 cases have been reported since then in the literature. This review will discuss the history and prevalence of EC, its etiology, morphology, presentation and symptoms, complications, diagnosis, treatment and management and prognosis. © 2014 Wiley Periodicals, Inc.

  2. Congenital anomalies associated with hypothyroidism.

    PubMed Central

    Bamforth, J S; Hughes, I; Lazarus, J; John, R

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities. PMID:3729532

  3. Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.

    PubMed

    Roosen, N; De Moor, J

    1984-05-01

    A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed.

  4. Minor congenital anomalies and ataxic cerebral palsy.

    PubMed Central

    Miller, G

    1989-01-01

    The incidence of minor congenital anomalies was examined in 36 patients with ataxic cerebral palsy, in unaffected family members, and in 100 unrelated control subjects. None of the control subjects or family members had more than four anomalies, and 25 of 36 (69%) of the patients had more than four. The distribution of anomalies differed considerably, with 60% of the index cases having seven or more, and 94% of the controls having three or less. The number occurring in the patients was significantly more than in their relatives. Of the 25 patients with more than four anomalies, 16 (64%) had undergone potentially adverse perinatal or early postnatal events. Thus minor congenital anomalies were considerably more frequent in those with ataxic cerebral palsy than in related or unrelated control subjects. These anomalies may be markers of early prenatal factors that contributed to the adverse outcome either directly or by predisposing to perinatal difficulties. PMID:2751330

  5. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

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

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  6. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.

    PubMed

    Sagoo, Gurdeep S; Butterworth, Adam S; Sanderson, Simon; Shaw-Smith, Charles; Higgins, Julian P T; Burton, Hilary

    2009-03-01

    Array-based comparative genomic hybridization is being increasingly used in patients with learning disability (mental retardation) and congenital anomalies. In this article, we update our previous meta-analysis evaluating the diagnostic and false-positive yields of this technology. An updated systematic review and meta-analysis was conducted investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic analyses have proven negative. Nineteen studies (13,926 patients) were included of which 12 studies (13,464 patients) were published since our previous analysis. The overall diagnostic yield of causal abnormalities was 10% (95% confidence interval: 8-12%). The overall number needed to test to identify an extra causal abnormality was 10 (95% confidence interval: 8-13). The overall false-positive yield of noncausal abnormalities was 7% (95% confidence interval: 5-10%). This updated meta-analysis provides new evidence to support the use of array-based comparative genomic hybridization in investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic tests have proven negative. However, given that this technology also identifies false positives at a similar rate to causal variants, caution in clinical practice should be advised.

  7. Congenital hand anomalies in Upper Egypt

    PubMed Central

    Abulezz, Tarek; Talaat, Mohamed; Elsani, Asem; Allam, Karam

    2016-01-01

    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. PMID:27833283

  8. Congenital absence of flexor pollicis longus tendon without associated anomalies of thumb hypoplasia: a case report and review of the literature.

    PubMed

    Demirseren, Mustafa Erol; Afandiyev, Kamran; Durgun, Mustafa; Kilicarslan, Kasim; Yorubulut, Mehmet

    2007-12-01

    In this paper, we report a case of a 14-year-old girl with congenital aplasia of the flexor pollicis longus tendon who had no other associated anomalies of thumb hypoplasia and no trauma history. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in the literature. The diagnosis should be considered if a patient is unable to flex the interphalangeal joint of the thumb. A hypoplastic thumb or an absent interphalangeal joint crease may be a diagnostic feature in such cases. Besides physical examination, we also used direct radiography and magnetic resonance imaging to diagnose this rare congenital anomaly in our patient.

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

    PubMed

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

    2010-09-01

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

  10. Congenital anomalies of kidney and urinary tract.

    PubMed

    Toka, Hakan R; Toka, Okan; Hariri, Ali; Nguyen, Hiep T

    2010-07-01

    Congenital anomalies of the kidney and urinary tract anatomy (CAKUT) are common in children and represent approximately 30% of all prenatally diagnosed malformations. CAKUT is phenotypically variable and can affect the kidney(s) alone and/or the lower urinary tract. The spectrum includes more common anomalies such as vesicoureteral reflux and, rarely, more severe malformations such as bilateral renal agenesis. In young children, congenital anomalies are the leading cause of kidney failure and for kidney transplantation or dialysis. CAKUT can also lead to significant renal problems in adulthood and may present itself with hypertension and/or proteinuria. Congenital renal anomalies can be sporadic or familial, syndromic (also affecting nonrenal or non-urinary tract tissues), or nonsyndromic. Genetic causes have been identified for the syndromic forms and have shed some light into the molecular mechanisms of kidney development in human beings. The genetic causes for the more common nonsyndromic forms of CAKUT are unknown. The role of prenatal interventions and postnatal therapies as well as the benefits of screening affected individuals and their family members are not clear.

  11. Congenital anomalies of the optic nerve

    PubMed Central

    Amador-Patarroyo, Manuel J.; Pérez-Rueda, Mario A.; Tellez, Carlos H.

    2014-01-01

    Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Each entity in this group of optic nerve anomalies has individually become more prevalent as our ability to differentiate between them has improved due to better characterization of cases. Access to better medical technology (e.g., neuroimaging and genetic analysis advances in recent years) has helped to expand our knowledge of these abnormalities. However, visual impairment may not be the only problem in these patients, some of these entities will be related to ophthalmologic, neurologic and systemic features that will help the physician to identify and predict possible outcomes in these patients, which sometimes may be life-threatening. Herein we present helpful hints, associations and management (when plausible) for them. PMID:25859137

  12. The impact of environmental pollution on congenital anomalies.

    PubMed

    Dolk, Helen; Vrijheid, Martine

    2003-01-01

    Major congenital anomalies are diagnosed in 2-4% of births. In this paper we review epidemiological studies that have specifically looked at congenital anomalies as a possible outcome of community exposure to chemical exposures associated with environmental pollution. These include studies of drinking water contaminants (heavy metals and nitrates, chlorinated and aromatic solvents, and chlorination by-products), residence near waste disposal sites and contaminated land, pesticide exposure in agricultural areas, air pollution and industrial pollution sources, food contamination, and disasters involving accidental, negligent or deliberate chemical releases of great magnitude. We conclude that there are relatively few environmental pollution exposures for which we can draw strong conclusions about the potential to cause congenital anomalies and, if so, the chemical constituents implicated, to provide an evidence base for public health and clinical practice. A precautionary approach should be adopted at both community and individual level. In order to prevent congenital anomalies, one must reduce exposure to potential teratogens before pregnancy is recognized (i.e. preconceptionally and in the first few weeks of pregnancy). It is a challenge to develop effective strategies for preconceptional care within the primary care framework. Prenatal service providers and counsellors need to be aware of the uncertainties regarding environmental pollution when addressing parental concerns.

  13. Poland syndrome a rare congenital anomaly.

    PubMed

    Ibrahim, Aliyu; Ramatu, Abdallah; Helen, Akhiwu

    2013-07-01

    Poland syndrome is a rare congenital anomaly classically consisting of unilateral hypoplasia of the sternocostal head of the pectoralis major muscle and ipsilateral brachysyndactyly. It was first described by Alfred Poland in 1840 and may occur with different gravity. Our patient is an eight-year-old Nigerian girl with left-sided anterior chest wall defect with no detectable structural heart abnormality but presented with repeated episodes of syncopal attacks following minor trauma to the anterior chest wall.

  14. Congenital glioblastoma coexisting with vascular developmental anomaly.

    PubMed

    Laure-Kamionowska, Milena; Szymanska, Krystyna; Biekiesinska-Figatowska, Monika; Gierowska-Bogusz, Barbara; Michalak, Elżbieta; Klepacka, Teresa

    2013-01-01

    Congenital central nervous tumours form a unique group of neoplasms. They are different from other tumour groups not only due to the onset time but also to their histopathology, anatomic location, and biologic behaviour. Congenital glioblastoma is one of the rarest types of congenital brain tumours and is uncommon in the prenatal period. We report a rare case of congenital glioblastoma detected prenatally by ultrasound examination and magnetic resonance imaging at 26 gestational weeks. Based on MRI findings and consultation of a team of specialists, pregnancy was terminated at 28 weeks. The newborn presented hydrops foetal. The child died shortly after birth due to cardiorespiratory insufficiency. At autopsy a large tumour with a spongy-like appearance was found. The tumour involved nearly the whole right cerebral hemisphere and led to marked hydrocephalus. In the histological and immunohistochemical examination, the tumour presented features of glioblastoma. Neoplastic cells were immunopositive for GFAP, S-100 protein and negative for neuronal markers. Frequent mitoses and high MIB-1 labelling index were seen in the tumour areas. The coexistence of tumour and vascular developmental anomaly was stated. The conglomerates of numerous, distended, thin-walled foetal-like blood vessels were located beside the tumour tissue, which presented disturbance in differentiation and maturation of the vascular net. Such coexistence of malignant glioma with vascular developmental anomaly is unique.

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

    PubMed

    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.

  16. The comprehensiveness of the ESHRE/ESGE classification of female genital tract congenital anomalies: a systematic review of cases not classified by the AFS system.

    PubMed

    Di Spiezio Sardo, A; Campo, R; Gordts, S; Spinelli, M; Cosimato, C; Tanos, V; Brucker, S; Li, T C; Gergolet, M; De Angelis, C; Gianaroli, L; Grimbizis, G

    2015-05-01

    How comprehensive is the recently published European Society of Human Reproduction and Embryology (ESHRE)/European Society for Gynaecological Endoscopy (ESGE) classification system of female genital anomalies? The ESHRE/ESGE classification provides a comprehensive description and categorization of almost all of the currently known anomalies that could not be classified properly with the American Fertility Society (AFS) system. Until now, the more accepted classification system, namely that of the AFS, is associated with serious limitations in effective categorization of female genital anomalies. Many cases published in the literature could not be properly classified using the AFS system, yet a clear and accurate classification is a prerequisite for treatment. The CONUTA (CONgenital UTerine Anomalies) ESHRE/ESGE group conducted a systematic review of the literature to examine if those types of anomalies that could not be properly classified with the AFS system could be effectively classified with the use of the new ESHRE/ESGE system. An electronic literature search through Medline, Embase and Cochrane library was carried out from January 1988 to January 2014. Three participants independently screened, selected articles of potential interest and finally extracted data from all the included studies. Any disagreement was discussed and resolved after consultation with a fourth reviewer and the results were assessed independently and approved by all members of the CONUTA group. Among the 143 articles assessed in detail, 120 were finally selected reporting 140 cases that could not properly fit into a specific class of the AFS system. Those 140 cases were clustered in 39 different types of anomalies. The congenital anomaly involved a single organ in 12 (30.8%) out of the 39 types of anomalies, while multiple organs and/or segments of Müllerian ducts (complex anomaly) were involved in 27 (69.2%) types. Uterus was the organ most frequently involved (30/39: 76.9%), followed

  17. The comprehensiveness of the ESHRE/ESGE classification of female genital tract congenital anomalies: a systematic review of cases not classified by the AFS system

    PubMed Central

    Di Spiezio Sardo, A.; Campo, R.; Gordts, S.; Spinelli, M.; Cosimato, C.; Tanos, V.; Brucker, S.; Li, T. C.; Gergolet, M.; De Angelis, C.; Gianaroli, L.; Grimbizis, G.

    2015-01-01

    STUDY QUESTION How comprehensive is the recently published European Society of Human Reproduction and Embryology (ESHRE)/European Society for Gynaecological Endoscopy (ESGE) classification system of female genital anomalies? SUMMARY ANSWER The ESHRE/ESGE classification provides a comprehensive description and categorization of almost all of the currently known anomalies that could not be classified properly with the American Fertility Society (AFS) system. WHAT IS KNOWN ALREADY Until now, the more accepted classification system, namely that of the AFS, is associated with serious limitations in effective categorization of female genital anomalies. Many cases published in the literature could not be properly classified using the AFS system, yet a clear and accurate classification is a prerequisite for treatment. STUDY DESIGN, SIZE AND DURATION The CONUTA (CONgenital UTerine Anomalies) ESHRE/ESGE group conducted a systematic review of the literature to examine if those types of anomalies that could not be properly classified with the AFS system could be effectively classified with the use of the new ESHRE/ESGE system. An electronic literature search through Medline, Embase and Cochrane library was carried out from January 1988 to January 2014. Three participants independently screened, selected articles of potential interest and finally extracted data from all the included studies. Any disagreement was discussed and resolved after consultation with a fourth reviewer and the results were assessed independently and approved by all members of the CONUTA group. PARTICIPANTS/MATERIALS, SETTING, METHODS Among the 143 articles assessed in detail, 120 were finally selected reporting 140 cases that could not properly fit into a specific class of the AFS system. Those 140 cases were clustered in 39 different types of anomalies. MAIN RESULTS AND THE ROLE OF CHANCE The congenital anomaly involved a single organ in 12 (30.8%) out of the 39 types of anomalies, while multiple organs

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

    PubMed Central

    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

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

    PubMed Central

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

    2014-01-01

    Background: 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. Materials and Methods: 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. Results: 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. Conclusions: 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. PMID:24987252

  20. Sacral rib: an uncommon congenital anomaly.

    PubMed

    Miyakoshi, Naohisa; Kobayashi, Akira; Hongo, Michio; Shimada, Yoichi

    2015-06-01

    Sacral rib represents an uncommon pathology in which rib-like structures arise from the sacrum. Supernumerary ribs may occur at any level of the spine, but supernumerary ribs in the sacrococcygeal area are extremely rare. To present the case of a patient with sacral rib and to discuss this entity with reference to the literature. A case report and literature review. A 17-year-old girl presented with low back pain and discomfort in bilateral gluteal regions. Radiographs and computed tomography (CT) of the pelvis showed a smooth-surfaced, rod-like bony structure attaching to the sacrum on the left side. The appearance was consistent with sacral rib. The sacrum was hypoplastic and deviated to the right. Magnetic resonance imaging (MRI) showed insertion of the gluteus maximus (GM) onto the coccyx only on the right side. The sacral rib existed beneath the left GM muscle and received a partial insertion from the left GM muscle. No ligamentous continuation between the sacral rib and coccyx was observed. Conservative treatment relieved symptoms, so no surgical intervention was performed. Sacral rib is a rare congenital anomaly for which surgical intervention is usually unnecessary. However, appropriate workups with CT and/or MRI should be considered for women, because sacral rib may cause complications during childbirth. In the literature, sacral/coccygeal rib is sometimes called "pelvic rib." However, sacral/coccygeal rib should be distinguished from pelvic rib, because pelvic rib originating from the ilium is considered to represent a different entity. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Congenital anomalies of the cervical spine.

    PubMed

    Klimo, Paul; Rao, Ganesh; Brockmeyer, Douglas

    2007-07-01

    There are numerous congenital anomalies of the cervical spine. They can be simple and clinically inconsequential to complex with serious neurologic and structural implications. They can occur in isolation or as one of several maldeveloped organs in the patients. Many are discovered incidentally. The more common anomalies seen by pediatric spine surgeons include defects of the anterior or posterior arches of C1, occipital assimilation of the atlas, basilar invagination or impression, os odontoideum, and Klippel-Feil syndrome. Management begins with a detailed history, physical examination, and imaging studies. In general, those lesions that are causing or have caused neurologic injury, chronic pain, or spinal deformity or place the patient at high risk for developing these require treatment.

  2. Prevalence and pathogenesis of congenital anomalies in cerebral palsy

    PubMed Central

    Pharoah, Peter O D

    2007-01-01

    Background It has been hypothesised that cerebral palsy (CP) and other congenital anomalies are attributable to feto–fetal transfusion problems in a monochorionic multiple gestation. Thus more than one organ could be compromised leading to the coexistence of two or more anomalies in a fetus. Such anomalies in a singleton birth may be attributable to early demise of the co‐conceptus as a vanishing twin. Aim To determine whether the coexistence of congenital anomalies and CP is greater than a chance finding by comparing the prevalence of congenital anomalies in children with CP with that in the general population of children. Methods A population‐based register of children with CP born in 1966–1991 in the counties of Merseyside and Cheshire, UK, comprised the index population. Coexisting congenital anomalies were recorded. For comparison the population prevalence of congenital anomalies was obtained from eight congenital malformation registers in the UK. Results Children with CP were found to have highly significant increases in risk for microcephaly, isolated hydrocephaly, congenital anomalies of the eye, congenital cardiac anomalies, cleft lip and/or palate and congenital dislocation of the hips and talipes (p<0.001) and atresias of the oesophagus (p<0.001) and intestines (p<0.01). The relative risks ranged from 3.1 (95% CI 1.9 to 4.8; p<0.001) for congenital malformations of the cardiac septa to 116.09 (95% CI 84.0 to 162.3; p<0.001) for microcephaly. Conclusions Congenital anomalies in children with CP are found much more frequently than expected by chance. A common pathogenic mechanism may account for the coexistence of disparate congenital anomalies. A hypothesis is proposed for such a common pathogenic mechanism. PMID:17428819

  3. [Congenital anomalies of the central nervous system in autopsy specimens].

    PubMed

    Sobaniec-Lotowska, M; Ostapiuk, H; Sulkowski, S; Sobaniec, W; Sulik, M; Famulski, W

    1989-02-01

    On the basis of an analysis of 2398 autopsies of infants aged up to 1 year in 194 cases congenital anomalies of the central nervous system were found (8.1%). Most cases of these anomalies were noted in the group of newborns (85%) and the most frequent anomalies were: myelomeningocele (35.6%), multiple anomalies (20.1%), congenital hydrocephalus (17%), anencephaly (14.4%) and corpus callosum malformations (3.6%). Myelomeningocele, congenital hydrocephalus, anencephaly and true microcephaly were more frequent in girls, while multiple anomalies and corpus callosum malformations were more frequent in boys.

  4. Associated congenital anomalies among cases with Down syndrome.

    PubMed

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

    2015-12-01

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

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

    PubMed

    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.

  6. The association of congenital tracheobronchial stenosis and cardiovascular anomalies.

    PubMed

    Chao, Yen-Chun; Peng, Chun-Chin; Lee, Kuo-Sheng; Lin, Shan-Miao; Chen, Ming-Ren

    2016-04-01

    Congenital tracheobronchial stenosis (CTBS) is a rare disorder characterized by the presence of focal or diffuse complete tracheal or bronchial cartilage rings resulting in a fixed lumen narrowing. The aim of this study was to expose the association of various cardiovascular (CV) anomalies with various types of CTBS. A retrospective review of 58 patients who had bronchoscopically proven CTBS between 1997 and 2011 was conducted. Totally, 48 cases who had received echocardiography, computed tomography and other examinations including cardiac catheterization were enrolled. There were 33 boys and 15 girls, and the median age of diagnosis was 4 months (0-44 months). The image findings of associated CV anomalies were reviewed and analyzed, along with the clinical manifestations and patients' outcome. There were 14 generalized hypoplasia (29.2%), 10 funnel type (20.8%), 15 segmental type (31.3%), and 9 isolated bronchial stenosis cases (18.7%). Among 48 cases of CTBS, 32 patients (66.7%) had various CV anomalies including atrial septal defect (n=9), pulmonary artery sling (n=7), ventricular septal defect (n=7), patent ductus arteriosus (n=6), tetralogy of Fallot (n=3), peripheral pulmonary stenosis (n=3), etc. No significant difference existed in the incidence and types of comorbid CV anomalies among 4 types of CTBS, except that funnel type had significantly higher comorbidity of pulmonary artery sling (50%, p<0.01). Patients with CTBS had high incidence of various associated CV anomalies. Isolated bronchial stenosis had similar high comorbidity of CV anomalies as did the 3 classical categories of congenital tracheal stenosis. The higher comorbidity of pulmonary artery sling in patients with funnel CTBS might be related to its gradual caudal narrowing of the trachea. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. The association of congenital spinal anomalies with imperforate anus.

    PubMed

    Denton, J R

    1982-01-01

    Ninety-four patients with congenital imperforate anus were studied to investigate: (1) the incidence of congenital spinal anomalies; (2) the orthopedic significance of these anomalies; (3) the incidence of other musculoskeletal disorders; and (4) the incidence of anomalies in other organ systems in the anal-spine anomaly group. There was a 38% incidence of spinal anomalies in 94 patients with congenital imperforate anus. Most of these abnormalities were sacral, and there were no related or progressive spinal deformities. The incidence of other musculoskeletal anomalies was much lower than of the spine (only 9% of the total). The triad of caudal regression-imperforate anus, spinal anomalies, and genitourinary tract anomalies-was present in 19 (53%) of the 36 cases, much more than any other combination of major system abnormalities such as the VATER of VACTEL syndromes.

  8. Geographic clusters of congenital anomalies in Argentina.

    PubMed

    Groisman, Boris; Gili, Juan; Giménez, Lucas; Poletta, Fernando; Bidondo, María Paz; Barbero, Pablo; Liascovich, Rosa; López-Camelo, Jorge

    2017-01-01

    Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence. Prenatal diagnosis followed by referral of high-risk pregnancies to high complexity hospitals in a hospital-based surveillance system can create artifactual clusters. We assessed the referral bias by evaluating the prevalence heterogeneity within each cluster. Eight clusters of selected CAs with unusually high birth prevalence were identified: anencephaly, encephalocele, spina bifida, diaphragmatic hernia, talipes equinovarus, omphalocele, Cleft lip with or without cleft palate (CL/P), and Down syndrome. The clusters of Down syndrome and CL/P observed in this study match the previously reported clusters. These findings support local targeted interventions to lower the prevalence of the CAs and/or further research on the cause of each cluster. The clusters of spina bifida, anencephaly, encephalocele, omphalocele, congenital diaphragmatic hernia, and talipes equinovarus may be influenced by prenatal diagnosis and referral to high complexity hospitals.

  9. Congenital anomalies of the urinary tract.

    PubMed

    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.

  10. The anomalies associated with congenital solitary functioning kidney in children.

    PubMed

    Akl, Kamal

    2011-01-01

    The aim of this study was to determine the incidence of associated urological and non-urological anomalies as well as the renal outcome in patients with a congenital solitary func-tioning kidney (CSFK). A retrospective review of 30 consecutive cases of CSFK seen at the pediatric renal service at the Jordan University Hospital between 2004 and 2008 was performed. There were 20 males and 10 females, whose ages ranged from five days to 14 years. In 20 patients (67%), the left kidney was absent. Associated anomalies were detected in 23 (77%) of the 30 patients; urological anomalies accounted for 47% (14/30) and non-urological anomalies were found in 19/30 (53%) patients. The latter included anomalies of the ear, nose and throat (ENT) in 9/30 (30%), musculoskeletal system (one with hypermobile joints) in 8/30 (27%), gastrointestinal (GI) in 7/30 (23%), cardiovascular (CV) in 4/30 (13%) and dermatological with epidermolysis bullosa, endocrine (euthyroid goiter) and gynecological (cervical cyst) in one patient each (3%). Proteinuria was seen in 6/30 (20%) and hypertension in 2/30 (7%) patients. Chronic renal failure (CRF) was seen in 6/30 (20%) patients, of whom three had end-stage renal failure (ESRF). CRF was seen mainly in patients with more than two associated urological anomalies. Idiopathic hyperuricosuria was found in five of the six tested patients (83%). In our study, the most common associated anomalies with CSFK were urological. The presence of more than two associated urological anomalies increased the risk of CRF.

  11. [Congenital anomalies of the inferior vena cava: role of imaging].

    PubMed

    Manfredi, R; Cotroneo, A R; Pirronti, T; Macis, G; Marano, P

    1995-10-01

    In recent years, clinics and radiology of congenital anomalies of the inferior vena cava have increased in importance in planning abdominal surgery, liver or kidney transplantation, or new interventional or diagnostic procedures such as the positioning of inferior vena cava filters to prevent pulmonary embolism, varicocel sclerotherapy and renal venous sampling. In the past, the radiologic assessment of these rare anomalies was performed only with angiography, which remains the most accurate diagnostic method. Today, besides angiography, less invasive examinations can be performed, e.g., US, CT and MRI, with MRA. In the last two years, 5 patients with inferior vena cava anomalies were examined: 3 had double inferior vena cava and 2 azygos continuation. All of them were submitted to US, CT, MRI and MRA and 3 patients underwent also angiography, two of them with double puncture. US can suggest the diagnosis but may be limited by technical factors and in the assessment of the whole inferior vena cava. Enhanced CT can depict anomaly extent, but uses contrast agents and ionizing radiations. Angiography better depicts craniocaudal spread and collateral networks but is an invasive procedure and sometimes needs a double puncture (double inferior vena cava). MRI, with MRA, yields the same information as the other modalities, but without contrast agents or ionizing radiations. The development of velocity encoded sequences will probably make this technique the method of choice in the study of inferior vena cava anomalies. Our study was aimed at reviewing the embryo-genesis of inferior vena cava anomalies and to assess the relative importance of different diagnostic procedures in the diagnosis and staging of these anomalies.

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

    PubMed

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

    2016-09-01

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

  13. FastStats: Birth Defects or Congenital Anomalies

    MedlinePlus

    ... this? Submit What's this? Submit Button NCHS Home Birth Defects or Congenital Anomalies Recommend on Facebook Tweet ... 4,746 Infant deaths per 100,000 live births: 119.0 Cause of infant death rank: 1 ...

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

    PubMed

    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.

  15. Asymmetrical arthrogryposis of the upper extremity associated with congenital spine anomalies.

    PubMed

    Fletcher, Nicholas D; Rathjen, Karl E; Bush, Patricia; Ezaki, Marybeth

    2010-12-01

    The term arthrogryposis is a descriptive term referring to a variety of clinical conditions characterized by multiple joint contractures. The spine may be involved; however, the presence of associated congenital vertebral abnormalities is rare. A retrospective chart review of 6 patients with asymmetric upper extremity joint contractures and concomitant congenital scoliosis of the cervical spine was performed. Six patients with congenital anomalies of the cervical spine and asymmetric contractures of the upper extremities were identified. Clinical findings and radiographic studies were reviewed. Upper extremity involvement was contralateral to the convexity of the spinal curvature in 5 of the 6 cases. Reconstruction of the upper extremity was required in 5 of 6 patients; however, no patient required operative intervention for their congenital cervical scoliosis. Congenital cervical spine anomalies can be associated with asymmetric arthrogryposis of the upper extremities. Physicians who take care of pediatric patients with arthrogryposis should carefully evaluate the cervical spine. Level IV, case series.

  16. Prenatal congenital vertical talus (rocker bottom foot): a marker for multisystem anomalies.

    PubMed

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

    2017-09-06

    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

  17. [Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract].

    PubMed

    Šípek, A; Gregor, V; Horáček, J; Šípek, A; Klaschka, J; Malý, M

    2015-03-01

    Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. The analysis was carried out for the entire Czech Republic, based on the data from 1994 to 2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres and laboratories in the Czech Republic. This study analyzed the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies. More detailed analysis was carried out for the following diagnoses: anencephaly, spina bifida, encephalocoele, congenital hydrocephalus, omphalocoele, gastroschisis, oesophageal atresia and stenosis, anorectal anomalies, and diaphragmatic hernia. Prevalence trends were analysed using Poisson regression. In 2009, a total of 118 348 live births were recorded in the Czech Republic, 60 368 boys and 57 980 girls. Of this total, 4 653, i.e. 2 745 boys and 1 908 girls, were diagnosed with congenital anomalies. In 2007-2009, the total of life births with congenital anomalies ranged between 4.6 and 4.8 thousand per year. The respective ranges in this three-year period were in the order of 2.7 and 2.8 thousand per year for boys and 1.9 thousand per year for girls. The prevalence of postnatally diagnosed anencephaly was minimal, as most cases were diagnosed prenatally, and the data did not vary significantly. The prevalence of postnatally diagnosed cases remained at the same level. The effectiveness of the prenatal diagnosis of spina bifida increased and thus the prevalence of postnatally diagnosed cases decreased. The prevalence of

  18. Vertebral and Intraspinal Anomalies in Indian Population with Congenital Scoliosis: A Study of 119 Consecutive Patients

    PubMed Central

    S, Rajasekaran; G, Balamurali; Shetty, Ajoy

    2016-01-01

    Study Design Retrospective case study by clinical and radiological data analysis. Purpose To analyze different types of vertebral anomalies and the incidence of associated intraspinal anomalies in the Indian population. Overview of Literature This is the largest study of congenital scoliosis and associated intraspinal anomalies in Indian population. Incidence of intraspinal anomaly in this series is 47% which is higher than previous literature. Hemivertebra was the most common anomaly as seen in previous studies. Methods A total of 119 patients with congenital scoliosis who underwent surgery between December 2006 and December 2012 were studied. Data was reviewed with medical records, plain radiographs, and magnetic resonance imaging (MRI) scans. Results Thoracolumbar curve was most common, seen in 43.6% of patients. In addition to scoliotic deformity, kyphosis was seen in 26% of patients. Failure of formation, the most common vertebral anomaly, was seen in 51.2% of patients, failure of segmentation was seen in 19.3% of patients, and there were 29.4% patients having both formation and segmentation anomalies. Hemivertebra was the most common vertebral anomaly seen in 66.3% of patients and for whom 63.2% were in thoracic spine. Intraspinal anomalies were associated with 47% of patients with congenital scoliosis. Tethered cord was the most common intraspinal abnormality and was found in 48.2% patients with intraspinal anomalies. The patients with failure of segmentation and mixed deformities were found to have a significantly higher incidence of intraspinal anomalies (65% and 57%, respectively) than those with failure of formation (34%). Out of 31 patients with kyphotic deformity 29% had intraspinal anomalies, and amongst them tethered cord was the most common anomaly seen in 66% patients. Out of 12 patients with neurocutaneous markers, 83% patients had intraspinal anomaly. Conclusions Intraspinal anomalies were seen in 47% of patients with congenital scoliosis in the

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

    PubMed

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

    2011-09-01

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

  20. Congenital middle ear anomalies: anatomical and functional results of surgery.

    PubMed

    Quesnel, Stéphanie; Benchaa, Tarik; Bernard, Sophie; Martine, François; Viala, Paul; Van Den Abbeele, Thierry; Teissier, Natacha

    2015-01-01

    The aim of this study was to describe the audiometric results following surgery in a consecutive series of pediatric patients with a congenital middle ear disorder. Retrospective chart review was performed for 29 consecutive children who underwent 33 middle ear surgeries for congenital ossicular chain anomaly between 1990 and 2012. Anomalies were classified into four groups according to the Teunissen and Cremers classification. Audiological parameters using four frequency averages (0.5, 1, 2 and 4 kHz) were assessed pre- and postoperatively. Clinical and audiometric follow-up times were, respectively, 49 ± 8 and 35 ± 5 months (mean ± SEM). Fifty-eight percent of all patients achieved an air-bone gap (ABG) ≤20 dB, 62.5% in class I, 50% in class II and 57.9% in class III. The improvement of the mean ABG was 13.6 dB, 19.2 dB for class I, 0.2 dB in class II and 15.4 dB in class III. Overall mean pure-tone averages improved 14.8 dB with 13.9 dB for class I; there was no improvement for class II and 20.2 dB for class III. The sensorineural hearing loss rate was 9%. This pediatric series showed that hearing results depend on type of anomaly. Class I and class III showed better hearing improvement than class II. © 2015 S. Karger AG, Basel.

  1. [Genetics of congenital anomalies of the kidney and urinary tract].

    PubMed

    Zwolińska, Danuta; Polak-Jonkisz, Dorota; Makulska, Irena

    2011-12-15

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

  2. Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials.

    PubMed

    Rasmussen, Sonja A; Hernandez-Diaz, Sonia; Abdul-Rahman, Omar A; Sahin, Leyla; Petrie, Carey R; Keppler-Noreuil, Kim M; Frey, Sharon E; Mason, Robin M; Nesin, Mirjana; Carey, John C

    2014-12-15

    In 2011 and 2012, the Division of Microbiology and Infectious Diseases at the National Institute of Allergy and Infectious Diseases, National Institutes of Health, held a series of meetings to provide guidance to investigators regarding study design of clinical trials of vaccines and antimicrobial medications that enroll pregnant women. Assessment of congenital anomalies among infants born to women enrolled in these trials was recognized as a challenging issue, and a workgroup with expertise in epidemiology, pediatrics, genetics, dysmorphology, clinical trials, and infectious diseases was formed to address this issue. The workgroup considered 3 approaches for congenital anomalies assessment that have been developed for use in other studies: (1) maternal report combined with medical records review, (2) standardized photographic assessment and physical examination by a health professional who has received specific training in congenital anomalies, and (3) standardized physical examination by a trained dysmorphologist (combined with maternal interview and medical records review). The strengths and limitations of these approaches were discussed with regard to their use in clinical trials. None of the approaches was deemed appropriate for use in all clinical trials. Instead, the workgroup acknowledged that decisions regarding the optimal method of assessment of congenital anomalies will likely vary depending on the clinical trial, its setting, and the agent under study; in some cases, a combination of approaches may be appropriate. The workgroup recognized the need for more research on approaches to the assessment of congenital anomalies to better guide investigators in optimal design of clinical trials that enroll pregnant women.

  3. Repair of congenital 'disconnected uterus': a new female genital anomaly?

    PubMed

    Kisu, Iori; Tanaka, Kyoko; Banno, Kouji; Okuda, Shigeo; Aoki, Daisuke

    2015-01-01

    Congenital uterine anomaly is a female genital disorder caused by developmental anomaly of the Müllerian ducts. In this report, we present a case of repair of congenital 'disconnected uterus' between the cervix and the body of the uterus. The case did not correspond to the consensus classifications that have been proposed for congenital uterine anomaly. The patient was a young woman whose chief complaints were not having first menstruation and experiencing monthly severe lower abdominal pain. Magnetic resonance imaging showed that the uterine body was separated from the uterine cervix. Uteroplasty was conducted to anastomose the separated uterus. Periodic menstruation started 1 month after surgery and abdominal pain was improved. Performance of uteroplasty in this case was extremely significant and greatly improved the quality of life of the patient.

  4. Unfused renal ectopia: a rare form of congenital renal anomaly.

    PubMed

    Nursal, Gül Nihal; Büyükdereli, Gülgün

    2005-09-01

    Unfused crossed renal ectopia observed 1 in 75,000 autopsies is a rare congenital anomaly. Typically one kidney is located in the proximity of the other kidney, and the ureter of the anatomically anomalous kidney crosses the midline to insert to the bladder in its normal anatomic position. Although renal function is usually not affected, the condition is generally accompanied by other congenital anomalies. In this case report, static and dynamic scintigraphic images of two patients with unfused crossed renal ectopia are presented. Besides properties of imaging modalities, clinical features are discussed in light of the available literature.

  5. Risk of congenital anomalies in pregnant users of statin drugs

    PubMed Central

    Ofori, Benjamin; Rey, Evelyne; Bérard, Anick

    2007-01-01

    What is already known about this subject Cholesterol is known to be essential for fetal development. Statins, which inhibit cholesterol production, have therefore been considered as potential teratogens and are contraindicated in pregnancy. Data available thus far on the risks of congenital anomalies associated with statin therapy have come from non-analytic postmarketing surveillance studies. Given the increasing use of statins in women of childbearing age, there is a need for a population-based study on the risks of congenital anomalies associated with gestational statin use. What this study adds In this pharmacoepidemiological study, we determined the risk of congenital anomalies in women who filled prescriptions for statins during the first trimester of pregnancy, compared with women who had stopped statins before pregnancy or those who used fibrates during pregnancy. We found no evidence of an increased risk of fetal anomalies among first-trimester statin users, or any discernable pattern of congenital anomalies among live births. However, in the absence of outcome data on nonlive births, conclusions remain uncertain. Aims Evidence from animal studies suggests that statin medications should not be taken during pregnancy. Our aim was to examine the association between the use of statins in early pregnancy and the incidence of congenital anomalies. Methods A population-based pregnancy registry was built. Three study groups were assembled: women prescribed statins in the first trimester (group A), fibrate/nicotinic acid in the first trimester (group B) and statins between 1 year and 1 month before conception, but not during pregnancy (group C). Among live-born infants, we selected as cases infants with any congenital anomaly diagnosed in the first year of life. Controls were defined as infants with no congenital anomalies. The rate of congenital anomalies in the respective groups was calculated. Adjusted odds ratios (OR) and 95% confidence intervals (CI) were

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

    PubMed

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

    2015-11-01

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

  7. [Congenital cataract: general review].

    PubMed

    Roche, O; Beby, F; Orssaud, C; Dupont Monod, S; Dufier, J L

    2006-04-01

    Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

  8. Maternal water consumption during pregnancy and congenital cardiac anomalies

    SciTech Connect

    Shaw, G.M.; Swan, S.H.; Harris, J.A.; Malcoe, L.H. )

    1990-05-01

    This case-control study, conducted in a California county that had a local incident of water contamination in 1981, investigated the relation between a mother's reported consumption of tap water during pregnancy and congenital cardiac anomalies in their offspring born during 1981-1983. Data were obtained from telephone interviews with 145 mothers of children born with a severe cardiac anomaly and 176 mothers of children born without such an anomaly. A positive association between a mother's consumption of home tap water during the first trimester of pregnancy and cardiac anomalies in her infant was unrelated to the incident of water contamination, the mother's race, or her educational level. A negative relation was found between a mother's use of bottled water and cardiac anomalies among the infants. These findings corresponded primarily to births in 1981. These data could not fully distinguish between a potential causal agent in the water and differential reporting of exposure by study subjects.

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

    PubMed

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

    2011-03-01

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

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

    PubMed Central

    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

  11. Hepatic heterotopia in congenital diaphragmatic anomaly

    PubMed Central

    Patel, Ramnik V; Wadhwani, Veena; Wyatt-Ashmead, Josephine; Abel, Robin M

    2013-01-01

    An antenatally diagnosed case of a left congenital diaphragmatic hernia is reported. The diaphragmatic eventration hernia sac consisted of a sheet of ectopic liver tissue in continuity with a hypoplastic left lobe which formed the medial anterior and posterior walls of the hernia is presented. The operative management of this combination of defects has not previously been described in English literature. Embryological considerations, limitations of accurate preoperative diagnosis, technical challenge in the operative repair of the defect and need for drainage is discussed. PMID:24042207

  12. [Perineal Groove: A Rare Congenital Anomaly].

    PubMed

    Barbosa, Manuel; Alves, Nuno; Fontes, Natacha

    2016-10-01

    Perineal groove is a rare congenital anorectal malformation, with incidence yet undetermined. It is almost exclusive to the female newborn and its embryogenic origin remains uncertain. We present a case-report of a newborn girl that was discharged from the nursery without complications. At her first appointment at primary care we noted a wet sulcus connecting the posterior vaginal commissure and the anus. This case report emphasizes the rarity of the perineal groove and the importance of a good quality history and physical examination at primary care.

  13. Congenital anomalies of the uterus, and ultrasound diagnostics.

    PubMed

    Miseljic, Nenad; Izetbegovic, Sebija; Mehmedbasic, Senad; Miseljic, Sanja

    2010-01-01

    Sonographic detection and evaluation of congenital anomalies of the uterus represent an important segment in the additional therapeutic procedure, that is, treatment of patients with congenital anomalies of the uterus. Besides the primary reason that is manifested in the total cure of the patients, the secondary reason represents the decrease of costs of treatment of congenital anomalies of the uterus. Both descriptive and analytical methods were used in this paper. In 1997 Kurjak and Kupesic compared the sensitivity and specificity of transvaginal ultra sound, color Doppler, hysterosonography and three-dimensional ultrasound during diagnosis of the uterus septum. Representation of pathological findings in our paper in comparison to the examined group is: uterus subseptus = 15.38%, double horned uterus = 10.25%. The examined group includes intrauterine abnormalities of the uterus, analyzing, in that process, individual, pathological entities of intrauterine abnormalities. The research is a prospective, target, clinical study. In the examined group, due to the clinical suspicion of intrauterine abnormalities, 78 patients were examined in the following manner: two-dimensional transabdominal and transvaginal black-and-white and color Doppler ultrasound examinations were made and then three-dimensional transabdominal black-and-white and color Doppler ultrasound examinations. This means that in the detection of congenital anomalies of the uterus, the same sonographic techniques were first applied on the conventional and then also on the multidimensional base. Our research showed that three-dimensional technique is a more reliable diagnostic tool than two-dimensional technique. Sensitivity and specificity rate as well as positive predictive value show that this technique is an extraordinary one for assessing the volume, and position of congenital abnormalities.

  14. Traffic-Related Air Pollution and Congenital Anomalies in Barcelona

    PubMed Central

    Nieuwenhuijsen, Mark J.; Salvador, Joaquin; de Nazelle, Audrey; Cirach, Marta; Dadvand, Payam; Beelen, Rob; Hoek, Gerard; Basagaña, Xavier; Vrijheid, Martine

    2014-01-01

    Background: A recent meta-analysis suggested evidence for an effect of exposure to ambient air pollutants on risk of certain congenital heart defects. However, few studies have investigated the effects of traffic-related air pollutants with sufficient spatial accuracy. Objectives: We estimated associations between congenital anomalies and exposure to traffic-related air pollution in Barcelona, Spain. Method: Cases with nonchromosomal anomalies (n = 2,247) and controls (n = 2,991) were selected from the Barcelona congenital anomaly register during 1994–2006. Land use regression models from the European Study of Cohorts for Air Pollution Effects (ESCAPE), were applied to residential addresses at birth to estimate spatial exposure to nitrogen oxides and dioxide (NOx, NO2), particulate matter with diameter ≤ 10 μm (PM10), 10–2.5 μm (PMcoarse), ≤ 2.5 μm (PM2.5), and PM2.5 absorbance. Spatial estimates were adjusted for temporal trends using data from routine monitoring stations for weeks 3–8 of each pregnancy. Logistic regression models were used to calculate odds ratios (ORs) for 18 congenital anomaly groups associated with an interquartile-range (IQR) increase in exposure estimates. Results: In spatial and spatiotemporal exposure models, we estimated statistically significant associations between an IQR increase in NO2 (12.2 μg/m3) and coarctation of the aorta (ORspatiotemporal = 1.15; 95% CI: 1.01, 1.31) and digestive system defects (ORspatiotemporal = 1.11; 95% CI: 1.00, 1.23), and between an IQR increase in PMcoarse (3.6 μg/m3) and abdominal wall defects (ORspatiotemporal = 1.93; 95% CI: 1.37, 2.73). Other statistically significant increased and decreased ORs were estimated based on the spatial model only or the spatiotemporal model only, but not both. Conclusions: Our results overall do not indicate an association between traffic-related air pollution and most groups of congenital anomalies. Findings for coarctation of the aorta are consistent with

  15. Congenital heart anomaly in newborns with congenital diaphragmatic hernia: a single-center experience.

    PubMed

    Ruano, R; Javadian, P; Kailin, J A; Maskatia, S A; Shamshirsaz, A A; Cass, D L; Zamora, I J; Sangi-Haghpeykar, H; Lee, T C; Ayres, N A; Mehollin-Ray, A; Cassady, C I; Fernandes, C; Welty, S; Belfort, M A; Olutoye, O O

    2015-06-01

    To evaluate the impact of the presence of a congenital heart anomaly (CHA) and its potential contribution to morbidity and mortality in infants with congenital diaphragmatic hernia (CDH). In this retrospective cohort study, prenatal and postnatal data of all newborns diagnosed with CDH between January 2004 and December 2012 in a single center were reviewed. Cases were classified into two groups: those with 'isolated' CDH and those with both CDH and CHA. Patients with CHA were further subclassified into those with a major or minor CHA based on the Risk Adjustment for Congenital Heart Surgery-1 (RACHS-1), and the Society of Thoracic Surgeons-European Association for Cardiothoracic Surgery (STS-EACTS) scoring systems. Patients with associated non-cardiac anomalies, including 'syndromic cases', were excluded from the analysis. Primary and secondary outcomes were survival up to 1 year of age and a need for extracorporeal membrane oxygenation (ECMO), respectively. Of the 180 infants with CDH, 41 were excluded because of the presence of non-cardiac associated anomalies, 118 had isolated CDH and 21 had CDH with CHA (16 with minor and five with major CHA). Receiver-operating characteristics curve analysis demonstrated that the best cut-off for survival was when the score for CHA was ≤ 2 for both RACHS-1 (area under the curve (AUC), 0.74 (P = 0.04); sensitivity, 80.0%; specificity, 87.5%) and STS-EACTS (AUC, 0.83 (P = 0.03); sensitivity, 100%; specificity, 87.5%). Survival rate at 1 year was significantly lower in those with CHD and a major CHA (40.0%; P = 0.04) than in those with isolated CDH (77.1%) and those with CDH and a minor CHA (81.3%). We found no significant differences among the groups with regard to the need for ECMO. In general, a milder form of CHA does not appear to have a negative impact on the survival of infants with CDH. However, mortality appears to be significantly higher in infants with CDH and a major form of CHA. The scoring systems

  16. Unusual association of congenital middle ear cholesteatoma and first branchial cleft anomaly: management and embryological concepts.

    PubMed

    Nicollas, R; Tardivet, L; Bourlière-Najean, B; Sudre-Levillain, I; Triglia, J M

    2005-02-01

    To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. Retrospective study and review of the literature Both patients were young girls free of past medical or surgical history. Surgical removal of the first cleft anomaly found in the two cases a fistula routing underneath the facial nerve. Both cholesteatomas were located in the hypotympanum, mesotympanum. In one case, an anatomical link between the two malformations was clearly identified with CT scan. The main embryological theories and classification are reviewed. A connection between Aimi's and Michaels' theories (congenital cholesteatoma) and Work classification might explain the reported clinical association.

  17. Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica.

    PubMed Central

    Wynne-Davies, R

    1975-01-01

    A family survey of 337 patients with congenital vertebral anomalies has been carried out from the Scoliosis Clinics of Edinburgh and the Royal National Orthopaedic Hospital, London. From genetic and epidemiological evidence it is clear that multiple vertebral anomalies (without apparent spina bifida) are aetiologically related to anencephaly and spina bifida cystics, carrying a 5-10% risk to subsequent sibs for any one of these defects. The implications for prenatal diagnosis are discussed. Solitary hemivertebrae and localized anterior defects of the vertebral bodies causing kyphoscoliosis are sporadic (non-familial) in nature, carrying no risk to subsequent sibs. Images PMID:1100836

  18. Congenital absence of preputial foreskin: an extremely uncommon anomaly.

    PubMed

    Garcia-Palacios, Maria; Mendez-Gallart, Roberto; Rodriguez-Barca, Pablo; Estevez-Martinez, Elina; Bautista-Casasnovas, Adolfo

    2013-02-01

    The part of the penile skin that covers the glans penis is named prepuce or foreskin. The embryologic development of the prepuce and urethra is related. Several congenital anomalies of the prepuce have been previously reported, but the absence of the prepuce with a normal development of the urethra is a very rare association. We report a sporadic case with absence of the prepuce and normal urethral development.

  19. Congenital lacrimal fistula: A major review.

    PubMed

    Chaung, Jia Quan; Sundar, Gangadhara; Ali, Mohammad Javed

    2016-08-01

    The purpose of this article is to review and summarize the etiopathogenesis, symptomatology, systemic associations, management, complications and clinical outcomes of congenital lacrimal fistulae. The authors performed an electronic database (PubMed, MEDLINE, EMBASE and Cochrane Library) search of all articles published in English on congenital lacrimal fistulae. Congenital subsets of patients from series of mixed lacrimal fistulae were included in the review. These articles were reviewed along with their relevant cross-references. Data reviewed included demographics, presentations, investigations, management, complications and outcomes. The prevalence of congenital lacrimal fistulae is reported to be around 1 in 2000 live births. They are frequently unilateral, although familial cases tend to be bilateral. Lacrimal and systemic anomalies have been associated with lacrimal fistulae. Exact etiopathogenesis is unknown but mostly believed to be an accessory out budding from the lacrimal drainage system during embryogenesis. Treatment is indicated when significant epiphora or discharge is present and is mostly achieved by various fistulectomy techniques with or without a dacryocystorhinostomy. Congenital lacrimal fistulae are a distinct clinical entity with unique features. Surgical management can be challenging and successful outcomes are usually achieved with widely accepted protocols.

  20. [Treatment strategy for patients with extracardiac structural anomalies and congenital heart disease].

    PubMed

    Murakami, Arata

    2011-07-01

    The surgical treatment of patients with extracardiac structural anomalies and congenital heart disease often carries major risk and remains a challenging field. An appropriate, solid treatment plan should be developed during the early phase with interactive intelligence sharing between a pediatric surgery team and congenital heart surgery team. As the top of the chain of command, the role of a neonatologist is important. This article reviews the history of surgery for congenital heart disease and the progress of the Japan Congenital Cardiovascular Surgery Database. Finally, as an example of a combination of diseases, the clinical course and intelligence sharing during treatment of a patient with biliary atresia requiring living-donor liver transplantation and hypoplastic left heart syndrome is reported. The National Quality Forum provided structural measures, process measures, and outcome measures for congenital heart surgery. Structural measures provided by the National Quality Forum included participation in a preoperative multidisciplinary conference. To improve the outcome of surgical treatment of patients with congenital heart disease and extracardiac structural anomalies, the importance of a preoperative multidisciplinary conference involving not only pediatric surgeons, pediatric cardiologists, and pediatric cardiac surgeons but also neonatologists, anesthesiologists, and nurses cannot be overemphasized.

  1. Renal artery stenosis in association with congenital anomalies of the kidney and urinary tract.

    PubMed

    Kari, Jameela A; Roebuck, Derek J; Tullus, Kjell

    2014-10-01

    To describe 8 cases of renal artery stenosis (RAS) in children with congenital anomalies of the renal tract. We conducted a retrospective chart review of 78 children with RAS who were followed up at Great Ormond Street Hospital, London, United Kingdom between 2003 and 2012. We used an interventional radiology database to identify all patients who had RAS confirmed by digital subtraction angiography and examined all cases of congenital anomaly of the renal tract that had been diagnosed during childhood. We documented the following renal anomalies: multicystic dysplastic kidney (n=2), renal hypoplasia (n=1), congenital solitary kidney with hydronephrosis (n=1), and unilateral vesicoureteric reflux with poorly functioning kidneys (n=2). The anomaly was unknown in 2 cases. Seven children had unilateral nephrectomy at a median age of 2.5 years (range, 0.4-10 years) for various urological abnormalities. All children were confirmed to have RAS after presentation with hypertension at a median age of 10 (3.5-16.2) years. Angioplasty was performed in 7 children, of which 6 achieved control of their blood pressure on reduced medications. We highlight the association between RAS and other renal anomalies, which indicates that they could share a common genetic background.

  2. Congenital anomalies and childhood cancer in Great Britain.

    PubMed Central

    Narod, S A; Hawkins, M M; Robertson, C M; Stiller, C A

    1997-01-01

    The presence of cancer and a congenital anomaly in the same child may be explained in certain cases by an underlying genetic abnormality. The study of these associations may lead to the identification of genes that are important in both processes. We have examined the records of 20,304 children with cancer in Britain, who were entered into the National Registry of Childhood Tumors (NRCT) during 1971-86, for the presence of congenital anomalies. The frequency of anomalies was much higher among children with solid tumors (4.4%) than among those with leukemia or lymphoma (2.6%; P < .0001). The types of cancer with the highest rates of anomalies were Wilms tumor (8.1%), Ewing sarcoma (5.8%), hepatoblastoma (6.4%), and gonadal and germ-cell tumors (6.4%). Cases of spina bifida and abnormalities of the eye, ribs, and spine were more common in children with cancer than among population-based controls. Future studies may be directed toward identifying the developmental pathways and the relevant genes that are involved in the overlap between pediatric cancer and malformation. PMID:9042906

  3. Congenital anomalies and childhood cancer in Great Britain

    SciTech Connect

    Narod, S.A.; Hawkins, M.M.; Robertson, C.M.; Stiller, C.A.

    1997-03-01

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

  4. Maternal zinc deficiency and congenital anomalies in newborns.

    PubMed

    Moghimi, Mahmood; Ashrafzadeh, Sahar; Rassi, Sepehr; Naseh, Ali

    2017-04-01

    Zinc deficiency in pregnant women is common, especially in the third trimester of pregnancy. The available data, however, on the association between zinc deficiency and congenital malformations in the Iranian population are insufficient. The aim of this study was therefore to determine whether maternal serum zinc deficiency is associated with major congenital malformations in newborns. This descriptive, case-control study involved mothers of 80 neonates with congenital anomalies (study group) admitted to the Mofid Children's Hospital, Tehran, Iran. During the same period (2014 and 2015), serum zinc was measured in 80 mothers who had delivered normal newborns without congenital malformations (control group). Mothers with serum zinc deficiency had a more than sevenfold risk of malformations in the fetus compared with mothers with normal serum zinc (OR, 7.013; 95%CI: 2.716-18.110). Newborns with malformation weighing ≤2500 g were associated with lower maternal serum zinc compared with the control group (P = 0.006). There is an association between congenital malformation in newborns and maternal zinc deficiency. © 2016 Japan Pediatric Society.

  5. The Neural Crest in Cardiac Congenital Anomalies

    PubMed Central

    Keyte, Anna; Hutson, Mary Redmond

    2012-01-01

    This review discusses the function of neural crest as they relate to cardiovascular defects. The cardiac neural crest cells are a subpopulation of cranial neural crest discovered nearly 30 years ago by ablation of premigratory neural crest. The cardiac neural crest cells are necessary for normal cardiovascular development. We begin with a description of the crest cells in normal development, including their function in remodeling the pharyngeal arch arteries, outflow tract septation, valvulogenesis, and development of the cardiac conduction system. The cells are also responsible for modulating signaling in the caudal pharynx, including the second heart field. Many of the molecular pathways that are known to influence specification, migration, patterning and final targeting of the cardiac neural crest cells are reviewed. The cardiac neural crest cells play a critical role in the pathogenesis of various human cardiocraniofacial syndromes such as DiGeorge, Velocardiofacial, CHARGE, Fetal Alcohol, Alagille, LEOPARD, and Noonan syndromes, as well as Retinoic Acid Embryopathy. The loss of neural crest cells or their dysfunction may not always directly cause abnormal cardiovascular development, but are involved secondarily because crest cells represent a major component in the complex tissue interactions in the head, pharynx and outflow tract. Thus many of the human syndromes linking defects in the heart, face and brain can be better understood when considered within the context of a single cardiocraniofacial developmental module with the neural crest being a key cell type that interconnects the regions. PMID:22595346

  6. A sonographic approach to prenatal classification of congenital spine anomalies

    PubMed Central

    Robertson, Meiri; Sia, Sock Bee

    2015-01-01

    Abstract Objective: To develop a classification system for congenital spine anomalies detected by prenatal ultrasound. Methods: Data were collected from fetuses with spine abnormalities diagnosed in our institution over a five‐year period between June 2005 and June 2010. The ultrasound images were analysed to determine which features were associated with different congenital spine anomalies. Findings of the prenatal ultrasound images were correlated with other prenatal imaging, post mortem findings, post mortem imaging, neonatal imaging, karyotype, and other genetic workup. Data from published case reports of prenatal diagnosis of rare congenital spine anomalies were analysed to provide a comprehensive work. Results: During the study period, eighteen cases of spine abnormalities were diagnosed in 7819 women. The mean gestational age at diagnosis was 18.8w ± 2.2 SD. While most cases represented open NTD, a spectrum of vertebral abnormalities were diagnosed prenatally. These included hemivertebrae, block vertebrae, cleft or butterfly vertebrae, sacral agenesis, and a lipomeningocele. The most sensitive features for diagnosis of a spine abnormality included flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length. While reported findings at the time of diagnosis were often conservative, retrospective analysis revealed good correlation with radiographic imaging. 3D imaging was found to be a valuable tool in many settings. Conclusions: Analysis of the study findings showed prenatal ultrasound allowed detection of disruption to the normal appearances of the fetal spine. Using the three features of flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length, an algorithm was devised to aid with the diagnosis of spine anomalies for those who perform and report prenatal ultrasound. PMID:28191204

  7. Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

    PubMed Central

    Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover-Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada

    2016-01-01

    Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients’ mutations suggest a genotype–phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy. PMID:26394714

  8. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

    PubMed

    Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover-Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada

    2016-01-01

    Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients' mutations suggest a genotype-phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy. © 2015 Wiley Periodicals, Inc.

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

    PubMed

    Bhide, Prajkta; Gund, Pooja; Kar, Anita

    2016-01-01

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

  10. Association of citalopram with congenital anomalies: A meta-analysis

    PubMed Central

    Kang, Hyun-Hye; Ahn, Ki Hoon; Kwon, Bo Yong; Lee, Eun Hee; Lee, Ji-Sung; Oh, Min-Jeong; Kim, Hai-Joong

    2017-01-01

    Objective The antenatal use of citalopram, a widely prescribed selective serotonin reuptake inhibitor, has been suspected to be associated with congenital, particularly cardiac, anomalies. This study aimed to prove the association between citalopram use and congenital anomalies. Methods We searched the English literature from July 1998 to July 2015, by using the search terms ‘ citalopram’, ‘ pregnancy’, ‘ birth defects’, ‘ congenital anomalies’, and ‘ malformations’ in PubMed, Embase, Web of Science, and the Cochrane Library. Results Eight eligible articles were analyzed including a total of 1,507,896 participants. The odds ratio (OR) of major malformations associated with citalopram use during pregnancy was 1.07 (95% confidence interval [CI], 0.98 to 1.17). Concerning cardiac malformations, the OR for all included studies was 1.31 (95% CI, 0.88 to 1.93). The analysis of cardiac malformations was repeated to reduce heterogeneity after excluding one outlier study (OR, 1.03; 95% CI, 0.84 to 1.26). Conclusion From our data, it can be concluded that citalopram use is not associated with major birth defects. However, physicians should carefully weigh the benefits against the potential risks of citalopram use, and counsel patients accordingly. PMID:28344955

  11. [Congenital anomalies of cerebral artery and intracranial aneurysm].

    PubMed

    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.

  12. Congenital joint laxity and dwarfism: A feed-associated congenital anomaly of beef calves in Canada

    PubMed Central

    Ribble, Carl S.; Janzen, Eugene D.; Proulx, Julien G.

    1989-01-01

    Five feeding trials were performed on three ranches to determine if a distinctive, recurring, congenital anomaly in beef calves was associated with feeding clover or grass silage without supplementation to pregnant cows overwinter. The anomaly, termed congenital joint laxity and dwarfism, was characterized at birth by generalized joint laxity, disproportionate dwarfism, and occasionally, superior brachygnathia. The anomaly had been documented for several consecutive years on these ranches and affected 2-46% of the calf crop. Pregnant cows were divided randomly into feeding groups, and the number of abnormal calves in each group was tabulated. Supplementation of the overwinter grass/clover silage diet with hay (2.5-4.5 kg/head/day) and rolled barley (0.75-1.5 kg/head/day) eliminated the problem. Supplementation of grain, without hay, was not as effective. Varying the proportions of grass and clover in the silage, and the age of the silage, did not alter the teratogenic potency of silage. Vitamin D3 supplementation did not reduce the risk of the condition. The definitive cause of congenital joint laxity and dwarfism was not determined. ImagesFigure 1.Figure 2. PMID:17423291

  13. Congenital anomalies of the inner ear: introducing a new classification of labyrinthine anomalies.

    PubMed

    Suehiro, S; Sando, I

    1979-01-01

    In a literature review of 108 articles a special effort was made to find and classify inner ear anomalies and diseases associated with inner ear anomalies. This study showed the following. Most of the diseases associated with inner ear anomalies are also associated with anomalies in other parts of the body. Hereditary characteristics comprise the most common etiological factor among the diseases associated with inner ear anomalies. Among anomalies observed in the cochlea, the vestibule, and the semicircular canals, anomalies in the cochlea are most frequently associated with various diseases and were observed in 30 of 40 diseases. Anomalies of the vestibule were observed in 25 diseases, and those of the semicircular canals in 18 diseases. Anomalies in both the osseous and the membranous labyrinth were most frequently associated with the diseases studied, as they were observed to occur with 10 of the 43 diseases. In this paper a new classification system for labyrinthine anomalies is introduced, based on this study of the literature.

  14. Multiple congenital genitourinary anomalies in a polled goat.

    PubMed

    King, William W; Young, Melvin E; Fox, M Eugene

    2002-09-01

    A 1-day-old, Toggenburg/Nubian crossbred goat of polled parentage was referred for necropsy because of a large (diameter, 5 cm) bladder-like mass protruding from the perineal midline and difficult urination. Differential diagnoses included cutaneous cyst, ectopic urinary bladder, and urethral diverticulum/dilatation. Several genitourinary aberrations were noted. A second, smaller (diameter, 1 cm), more distal cystic structure was adjacent to an ambiguous prepuce. Testicles were discovered within a constricted, subcutaneous space near the inguinal canals. A rudimentary penis was located dorsal to the penile urethra with no appreciable urethral process. A tiny external urethral orifice was discerned only after liquid was injected into the lumen of the cystic structures, confirming their identity as urethral dilatations. The dilatations were separated by a constricting band of fibrous tissue. No other significant findings were detected. This case illustrates a combination of congenital anomalies including bilateral cryptorchidism with scrotal absence, segmental urethral hypoplasia, and urethral dilatation, most likely associated with the intersex condition seen in polled breeds. The continued production and use of small ruminants as animal models demands the prompt recognition of congenital anomalies. This case also exemplifies the precautions required when breeding goats with polled ancestry.

  15. [Frequency of congenital anomalies in cattle: results from the practice in comparison with literature].

    PubMed

    Bähr, C; Distl, O

    2005-04-01

    The study gives a short survey of the literature of frequently observed congenital anomalies in cattle and refers to data on cases of congenital anomalies registered in a veterinary practice over a period of 8 years and in an AI (artificial insemination) station of the Rinder-Union West (RUW) during 4 years. The frequency of congenital anomalies was estimated at 0.013% in the area of the RUW. In the veterinary practice a frequency of 0.51% was found. The most prevalent anomalies were seen in legs (39% in the veterinary practice and 21% in RUW) followed by congenital anomalies of the spine (9% in the veterinary practice and 17% in RUW). Arthrogryposes were most frequent among the anomalies of the legs with 65% (veterinary practice) and 39% (RUW), respectively, of all cases of registered leg anomalies in the respective area. Umbilical hernia and atresia of segments of the intestinum were seen in 8-30% of all registered cases. The frequency of congenital anomalies differed not significantly among paternal half sib groups. A questionnaire was proposed for the registration of congenital anomalies in progeny tests of AI bulls. A series of photographs showing the most prevalent congenital anomalies is supporting the registration form.

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

    PubMed

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

    2013-09-01

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

  17. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  18. Use of Special Education Services among Children With and without Congenital Gastrointestinal Anomalies

    ERIC Educational Resources Information Center

    Hamrick, Shannon E. G.; Strickland, Matthew J.; Shapira, Stuart K.; Autry, Andrew; Schendel, Diana

    2010-01-01

    Our objective was to evaluate the relationship between congenital gastrointestinal anomalies requiring neonatal surgery and neurodevelopmental outcome. Among the children born in metropolitan Atlanta during 1982-2001 who survived to age 1 year (N = 762,824), we identified children with congenital gastrointestinal anomalies via linkage with the…

  19. Use of Special Education Services among Children With and without Congenital Gastrointestinal Anomalies

    ERIC Educational Resources Information Center

    Hamrick, Shannon E. G.; Strickland, Matthew J.; Shapira, Stuart K.; Autry, Andrew; Schendel, Diana

    2010-01-01

    Our objective was to evaluate the relationship between congenital gastrointestinal anomalies requiring neonatal surgery and neurodevelopmental outcome. Among the children born in metropolitan Atlanta during 1982-2001 who survived to age 1 year (N = 762,824), we identified children with congenital gastrointestinal anomalies via linkage with the…

  20. A study of associated congenital anomalies with biliary atresia

    PubMed Central

    Gupta, Lucky; Bhatnagar, Veereshwar

    2016-01-01

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

  1. Congenital Heart Surgery Nomenclature and Database Project: Ebstein's anomaly and tricuspid valve disease.

    PubMed

    Dearani, J A; Danielson, G K

    2000-04-01

    Ebstein's anomaly is a rare congenital heart defect that is characterized by a spectrum of anatomical abnormalities of the tricuspid valve that also involve the right atrium and right ventricle. The extant nomenclature for Ebstein's anomaly and our approach to the description of the severity of Ebstein's anomaly are reviewed with the objective of establishing a unified reporting system. Although there are common features in Ebstein's anomaly, there is a wide spectrum of pathology with an infinite variety of combinations of severity of the involved structures. An effort was made to develop a classification system that would take into consideration the anatomic abnormalities that help direct the surgical management, particularly in regard to tricuspid valve repair or valve replacement. Isolated congenital tricuspid stenosis and regurgitation are also rare, and a simple classification system is presented. Acquired causes of tricuspid regurgitation and stenosis are more common and are included in the classification system. A comprehensive database set for these malformations is presented so that a comprehensive risk stratification analysis can be performed. A minimum database set is also presented that will allow for data sharing and would lend itself to basic interpretation of trends. Outcome tables relating diagnoses, procedures, and risk factors are presented.

  2. Patent Ductus Arteriosus Associated with Congenital Anomaly of Coronary Artery

    PubMed Central

    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 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. PMID:25478523

  3. Patent ductus arteriosus associated with congenital anomaly of coronary artery.

    PubMed

    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.

  4. RENAC: National Registry of Congenital Anomalies of Argentina.

    PubMed

    Groisman, Boris; Bidondo, María Paz; Barbero, Pablo; Gili, Juan A; Liascovich, Rosa

    2013-12-01

    The National Registry of Congenital Anomalies (Registro Nacional de Anomalías Congénitas, RENAC) is a hospital-based surveillance system for newborn infants with major morphological congenital anomalies (CAs). The objective of this study was to describe the characteristics and operation of the RENAC registry and the prevalence at birth of 56 specifc selected CAs, compared to other registries. The organization of the RENAC registry was initiated in public hospitals with 1000 or more births per year or which are the referral hospitals in a determined health region. Neonatologists are in charge of data collection, and a central coordination department is in charge of encoding, statistical analyses and regular reports. The RENAC registry uses an online forum for data submission and for guidance and interaction regarding the initial management of cases. Between November 1st, 2009 and June 30th, 2012, 98 hospitals were included in the registry, the annual coverage of these hospitals is 65% in the public sector and 35% of births in Argentina. In this period, 294 005 newborn infants were examined, and 5165 cases with major CAs were detected (1.76%; 95% CI: 1.71-1.80). The most frequent CAs were septal heart defects (prevalence per 10 000: 28.6), Down's syndrome (prevalence per 10 000: 19.2), cleft lip +/- palate (prevalence per 10 000: 12), and a set of neural tube defects (prevalence per 10 000: 11.9). The RENAC has reached a high coverage in the public sector and the differences in prevalence with other registries can be related to operational aspects or actual differences, depending on the case. The RENAC deals with the collection, analysis and dissemination of information about CAs in Argentina, and also contributes with local interventions.

  5. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

    PubMed

    Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S; Samocha, Kaitlin E; Karczewski, Konrad J; DePalma, Steven R; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A; Kim, Richard; Bilguvar, Kaya; López-Giráldez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E; Russell, Mark W; Mital, Seema; Newburger, Jane W; Gaynor, J William; Breitbart, Roger E; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J; Kaltman, Jonathan R; Seidman, Jonathan G; Brueckner, Martina; Gelb, Bruce D; Goldmuntz, Elizabeth; Lifton, Richard P; Seidman, Christine E; Chung, Wendy K

    2015-12-04

    Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA but only 2% of patients with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, a regulator of mRNA splicing. Genes mutated in other cohorts examined for NDD were enriched in CHD cases, particularly those with coexisting NDD. These findings reveal shared genetic contributions to CHD, NDD, and CA and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients.

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

    PubMed

    Bartel-Friedrich, Sylva

    2015-12-01

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

  7. Congenital anomalies and termination of pregnancy in Iran.

    PubMed

    Samadirad, Bahram; Khamnian, Zhila; Hosseini, Mohammad Bager; Dastgiri, Saeed

    2012-01-01

    The aim of this study was to document some epidemiological features of termination of pregnancy for birth defects in Iran. We studied 603 pregnant women who were diagnosed/recommended for the termination of pregnancy as having a fetus with some types of birth defect(s). Most women (87.2 percent) had at least one ultrasound examination. The proportion of other screening tests including amniocentesis and genetic tests were 2.8 and 4.6 percent, respectively. Of 603 women, 201 terminated the pregnancy giving a prevalence rate of 33.3 percent (CI 95%: 29.6-37.6). The remaining 402 subjects were unable to get the permission for abortion because of untimely diagnosis/application for termination (20th week of pregnancy and/or later). Forty-eight percent of termination of pregnancies was performed before the 18th week of pregnancy. Neural tube defects, limb deformation, hydrops fetalis, hydrocephaly, and chromosomal anomalies including Down syndrome accounted proportionally for about 65 percent of defects eligible for abortion in the region. Although the rate of termination of pregnancy for birth defects is acceptable at the current situation in the country, more efforts should still be made to convince the community authorities to give more possibility and ease for the termination of pregnancy for congenital anomalies.

  8. Congenital Variants and Anomalies of the Pancreas and Pancreatic Duct: Imaging by Magnetic Resonance Cholangiopancreaticography and Multidetector Computed Tomography

    PubMed Central

    Erden, Ayşe; Türkoğlu, Mehmet Akif; Yener, Özlem

    2013-01-01

    Though congenital anomalies of the pancreas and pancreatic duct are relatively uncommon and they are often discovered as an incidental finding in asymptomatic patients, some of these anomalies may lead to various clinical symptoms such as recurrent abdominal pain, nausea and vomiting. Recognition of these anomalies is important because these anomalies may be a surgically correctable cause of recurrent pancreatitis or the cause of gastric outlet obstruction. An awareness of these anomalies may help in surgical planning and prevent inadvertent ductal injury. The purpose of this article is to review normal pancreatic embryology, the appearance of ductal anatomic variants and developmental anomalies of the pancreas, with emphasis on magnetic resonance cholangiopancreaticography and multidetector computed tomography. PMID:24265565

  9. Congenital parasitic infections: a review.

    PubMed

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

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

    PubMed Central

    Bhide, Prajkta; Gund, Pooja; Kar, Anita

    2016-01-01

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

  11. The OMT Classification of Congenital Anomalies of the Hand and Upper Limb.

    PubMed

    Tonkin, Michael A; Oberg, Kerby C

    2015-10-01

    The Oberg, Manske and Tonkin (OMT) Classification of congenital anomalies of the hand and upper limb uses dysmorphological terminology, placing conditions in one of three groups: Malformations, Deformations and Dysplasias. The main group, Malformations, is further subdivided according to whether the whole of the limb is affected or the hand plate alone, and whether the primary insult involves one of the three axes of limb development and patterning or is non-axial. The common surgical diagnoses, such as thumb duplication and thumb hypoplasia, are then placed within this framework. Recently the International Federation of Societies for Surgery of the Hand Scientific Committee for Congenital Conditions approved the OMT Classification as a timely and appropriate replacement of the previously accepted Swanson Classification. This review charts the development of and modifications to the OMT Classification and its current status.

  12. Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

    PubMed Central

    Konrad, H; Merriam, J C; Jones, I S

    1995-01-01

    PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature since the original description of cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the incidence of associated anomalies. RESULTS: Including this patient, 149 case reports of cryptophthalmos were identified. In two families transmission from parent to child suggests dominant inheritance. None of the five dominant cases had any other anomalies, and all had bilateral complete cryptophthalmos. The incidence of cryptophthalmos in the remaining families is consistent with autosomal recessive inheritance. This group includes patients with bilateral, unilateral, and partial cryptophthalmos. Other anomalies are common, including those of the ear and nose, limbs, genitourinary system, and mouth and palate. Mortality in the perinatal period is associated with renal agenesis, laryngeal atresia, and pulmonary hypoplasia. CONCLUSIONS: Cryptophthalmos is a rare congenital anomaly with two patterns of inheritance. Images FIGURE 1 FIGURE 2 FIGURE 3 FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 8 FIGURE 9 FIGURE 10 FIGURE 11 FIGURE 12 FIGURE 13 PMID:8719680

  13. Chromosomal anomalies in the etiology of anorectal malformations: a review.

    PubMed

    Marcelis, Carlo; de Blaauw, Ivo; Brunner, Han

    2011-11-01

    Anorectal malformation (ARM) is a severe congenital anomaly that can occur either isolated or in association with other congenital abnormalities. It has a heterogeneous etiology with contribution of both genetic and environmental factors, although the etiological factors remain largely unknown. Several chromosomal abnormalities have been described in patients with an ARM. These chromosomal abnormalities could point to specific genes involved in the development of the anorectal canal and associated structures. This paper reviews the chromosomal abnormalities described in ARM and may act as a starting point to identify chromosomal regions containing putative anorectal development genes. Copyright © 2011 Wiley Periodicals, Inc.

  14. The burden of selected congenital anomalies amenable to surgery in low and middle-income regions: cleft lip and palate, congenital heart anomalies and neural tube defects.

    PubMed

    Higashi, Hideki; Barendregt, Jan J; Kassebaum, Nicholas J; Weiser, Thomas G; Bickler, Stephen W; Vos, Theo

    2015-03-01

    To quantify the burden of selected congenital anomalies in low and middle-income countries (LMICs) that could be reduced should surgical programmes cover the entire population with access to quality care. Burden of disease and epidemiological modelling. LMICs from all global regions. All prevalent cases of selected congenital anomalies at birth in 2010. Disability-adjusted life years (DALYs). Surgical programmes for three congenital conditions were analysed: clefts (lip and palate); congenital heart anomalies; and neural tube defects. Data from the Global Burden of Disease 2010 Study were used to estimate the combination of fatal burden that could be addressed by surgical care and the additional long-term non-fatal burden associated with increased survival. Of the estimated 21.6 million DALYs caused by these three conditions in LMICs, 12.4 million DALYs (57%) are potentially addressable by surgical care among the population born with such conditions. Neural tube defects have the largest potential with 76% of burden amenable by surgery, followed by clefts (59%) and congenital heart anomalies (49%). Sub-Saharan Africa and South Asia have the greatest proportion of surgically addressable burden for clefts (68%), North Africa and Middle East for congenital heart anomalies (73%), and South Asia for neural tube defects (81%). There is an important and neglected role surgical programmes can play in reducing the burden of congenital anomalies in LMICs. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  15. Application of magnetic resonance urography in diagnosis of congenital urogenital anomalies in children.

    PubMed

    Payabvash, Seyedmehdi; Kajbafzadeh, Abdol-Mohammad; Saeedi, Parisa; Sadeghi, Zhina; Elmi, Azadeh; Mehdizadeh, Mehrzad

    2008-09-01

    Magnetic resonance urography (MRU) has become a useful adjuvant in evaluating urogenital anomalies. In present study, we evaluated the ability of MRU in diagnosis of different congenital urogenital anomalies when the results of conventional imaging modalities were inconclusive. A total of 90 children were included in this series. The children were evaluated with T2-weighted and contrast-enhanced T1-weighted MRU sequences. The results were compared with findings obtained with ultrasonography, intravenous urography, renal nuclide scan, and voiding cystourethrography. MRU was requested in these children because conventional imaging modalities were equivocal or a co-existing urogenital anomaly was suspected. Only those cases that underwent surgery were included in this study and the surgical findings were set as the reference standard in statistical evaluation. The records of 61 boys with mean (range) age of 2.3 years (2 months-12 years) and 29 girls with mean (range) age of 3.3 years (3 months-12 years) were reviewed. The final diagnosis was ureteropelvic junction obstruction (n = 25), vesicoureteral junction obstruction (n = 16), ureterocele (n = 19), ectopic kidney (n = 11), posterior urethral valve (n = 17), and polycystic kidney (n = 2). The overall sensitivity of MRU, intravenous urography, renal nuclide scan, ultrasonography, and voiding cystourethrography in diagnosis of the aforementioned anomalies were 86, 63, 50, 44, and 41%, respectively. MRU was much more sensitive than other imaging modalities in diagnosis of end-ureteral dilation (100%) and ureterocele (89%). MRU provides a reliable noninvasive technique for imaging of the congenital anomalies in the urinary tract of children with T2-weighted MRU sequences providing unenhanced static-water images of the urinary tract as well as depicting adjacent soft-tissue lesions, and T1-weighted MRU technique imitating conventional intravenous urography. Both MRU sequences can be combined for a comprehensive

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

    PubMed Central

    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

  17. Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.

    PubMed

    Morris, Joan K; Garne, Ester; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Budd, Judith; Dias, Carlos Matias; Gatt, Miriam; Klungsoyr, Kari; Khoshnood, Babak; Latos-Bielenska, Anna; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rounding, Cath; Sipek, Antonin; Stoianova, Sylvia; Tucker, David; de Walle, Hermien; Yevtushok, Lyubov; Loane, Maria; Dolk, Helen

    2014-12-01

    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 significantly more likely to have a cardiac anomaly compared to male babies (47.6% compared with 40.4%, P < 0.001) and significantly less likely to have a non-cardiac anomaly (12.9% compared with 16.7%, P < 0.001). The prevalence of cardiac and non-cardiac congenital anomalies in babies with Down syndrome has remained constant, suggesting that population screening for Down syndrome and subsequent terminations has not influenced the prevalence of specific congenital anomalies in these babies. © 2014 Wiley Periodicals, Inc.

  18. Risk of congenital anomalies in relation to the uptake of trihalomethane from drinking water during pregnancy

    PubMed Central

    Grazuleviciene, Regina; Kapustinskiene, Violeta; Vencloviene, Jone; Buinauskiene, Jurate; Nieuwenhuijsen, Mark J

    2013-01-01

    Objectives Congenital anomalies have been inconsistently associated with maternal crude estimated exposure to drinking water trihalomethane (THM). We investigated the relationship between individual THM uptake during the first trimester of pregnancy and congenital anomalies. Methods We estimated maternal THM uptake for 3074 live births using residential tap water concentrations, drinking water ingestion, showering and bathing, and uptake factors of THM in the blood. Multiple logistic regression was used to investigate the association of THM exposure with congenital anomalies. Results We observed no statistically significant relationships between congenital anomalies and the total THM internal dose. We found little indication of a dose-response relationship for brominated THM and congenital heart anomalies. The relationship was statistically significant for bromodichloromethane (BDCM) (OR=2.16, 95% CI 1.05 to 4.46, highest vs lowest tertile) during the first month of pregnancy. During the first trimester of pregnancy, the probability of developing heart anomalies increased for every 0.1 μg/d increase in the BDCM and for every 0.01 μg/d increase in the internal dibromochloromethane (DBCM) dose (OR 1.70, 95% CI 1.09 to 2.66, and OR 1.25, 95% CI 1.01 to 1.54, respectively). A dose-response relationship was evident for musculoskeletal anomalies and DBCM exposure during the first and second months of pregnancy, while BDCM exposure tended to increase the risk of urogenital anomalies. Conclusions This study shows some evidence for an association between the internal dose of THM and the risk of congenital anomalies. In particular, increased prenatal exposure to brominated THM might increase the risk of congenital heart and musculoskeletal anomalies. PMID:23404756

  19. Risk of congenital anomalies in relation to the uptake of trihalomethane from drinking water during pregnancy.

    PubMed

    Grazuleviciene, Regina; Kapustinskiene, Violeta; Vencloviene, Jone; Buinauskiene, Jurate; Nieuwenhuijsen, Mark J

    2013-04-01

    Congenital anomalies have been inconsistently associated with maternal crude estimated exposure to drinking water trihalomethane (THM). We investigated the relationship between individual THM uptake during the first trimester of pregnancy and congenital anomalies. We estimated maternal THM uptake for 3074 live births using residential tap water concentrations, drinking water ingestion, showering and bathing, and uptake factors of THM in the blood. Multiple logistic regression was used to investigate the association of THM exposure with congenital anomalies. We observed no statistically significant relationships between congenital anomalies and the total THM internal dose. We found little indication of a dose-response relationship for brominated THM and congenital heart anomalies. The relationship was statistically significant for bromodichloromethane (BDCM) (OR=2.16, 95% CI 1.05 to 4.46, highest vs lowest tertile) during the first month of pregnancy. During the first trimester of pregnancy, the probability of developing heart anomalies increased for every 0.1 μg/d increase in the BDCM and for every 0.01 μg/d increase in the internal dibromochloromethane (DBCM) dose (OR 1.70, 95% CI 1.09 to 2.66, and OR 1.25, 95% CI 1.01 to 1.54, respectively). A dose-response relationship was evident for musculoskeletal anomalies and DBCM exposure during the first and second months of pregnancy, while BDCM exposure tended to increase the risk of urogenital anomalies. This study shows some evidence for an association between the internal dose of THM and the risk of congenital anomalies. In particular, increased prenatal exposure to brominated THM might increase the risk of congenital heart and musculoskeletal anomalies.

  20. Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: a national validation study.

    PubMed

    Rozendaal, A M; Luijsterburg, A J M; Ongkosuwito, E M; van den Boogaard, M-J H; de Vries, E; Hovius, S E R; Vermeij-Keers, C

    2012-06-01

    Since 1997, the 15 Dutch cleft palate teams have reported their patients with oral clefts to the national oral cleft registry (NVSCA). During the first visit of the patient to the team - which is usually within the first year of life - the oral cleft and associated congenital anomalies are recorded through a unique recording form by a plastic surgeon/orthodontist/paediatrician. In this study, we evaluated the quality of data on congenital anomalies associated with clefts. We drew a random sample of 250 cases registered in the national database with oral clefts from 1997 through 2003; of these, 13 were excluded. Using two independent reregisters derived from two-phased medical data review, we analysed whether associated anomalies were correctly diagnosed and recorded. The agreement on associated anomalies between the NVSCA and medical data ranged from moderate to poor (kappa 0.59 to 0). Seventy-seven percent of the craniofacial anomalies were underreported in the NVSCA: 30% due to delayed diagnosis and 47% due to deficient recording. Additionally, 80% of the associated anomalies of other organ systems were underreported: 52% due to delayed diagnosis and 28% due to deficient recording. The reporting of final diagnoses was somewhat better; however, 54% were still underreported (24% delayed diagnosis and 30% deficient recording). The rate of overreporting was 1.6% or lower. Congenital anomalies associated with clefts are underreported in the NVSCA because they are under diagnosed and deficiently recorded during the first consultations with the cleft palate teams. Our results emphasise the need for routine and thorough examination of patients with clefts. Team members should be more focussed on co-occurring anomalies, and early genetic counselling seems warranted in most cases. Additionally, our findings underline the need for postnatal follow-up and ongoing registration of associated anomalies; reregistration in the NVSCA at a later age is recommended. Copyright

  1. Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy

    PubMed Central

    Santoro, Michele; Minichilli, Fabrizio; Pierini, Anna; Astolfi, Gianni; Bisceglia, Lucia; Carbone, Pietro; Conti, Susanna; Dardanoni, Gabriella; Iavarone, Ivano; Ricci, Paolo; Scarano, Gioacchino; Bianchi, Fabrizio

    2017-01-01

    The health impact on populations residing in industrially contaminated sites (CSs) is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this study was to estimate the risk of congenital anomalies (CAs) in Italian CSs. Thirteen CSs covered by regional CA registries were investigated in an ecological study. The observed/expected ratios (O/E) with 90% confidence intervals (CI) for the total and specific subgroups of CAs were calculated using the regional areas as references. For the CSs with waste landfills, petrochemicals, and refineries, pooled estimates were calculated. The total number of observed cases of CAs was 7085 out of 288,184 births (prevalence 245.8 per 10,000). For some CSs, excesses for several CA subgroups were observed, in particular for genital and heart defects. The excess of genital CAs observed in Gela (O/E 2.36; 90% CI 1.73–3.15) is consistent with findings from other studies. For CSs including petrochemical and landfills, the pooled risk estimates were 1.10 (90% CI 1.01–1.19) and 1.07 (90% CI 1.02–1.13), respectively. The results are useful in identifying priority areas for analytical investigations and in supporting the promotion of policies for the primary prevention of CAs. The use of short-latency effect indicators is recommended for the health surveillance of the populations residing in CSs. PMID:28287452

  2. Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy.

    PubMed

    Santoro, Michele; Minichilli, Fabrizio; Pierini, Anna; Astolfi, Gianni; Bisceglia, Lucia; Carbone, Pietro; Conti, Susanna; Dardanoni, Gabriella; Iavarone, Ivano; Ricci, Paolo; Scarano, Gioacchino; Bianchi, Fabrizio; Group, RiscRipro Sentieri Working

    2017-03-10

    The health impact on populations residing in industrially contaminated sites (CSs) is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this study was to estimate the risk of congenital anomalies (CAs) in Italian CSs. Thirteen CSs covered by regional CA registries were investigated in an ecological study. The observed/expected ratios (O/E) with 90% confidence intervals (CI) for the total and specific subgroups of CAs were calculated using the regional areas as references. For the CSs with waste landfills, petrochemicals, and refineries, pooled estimates were calculated. The total number of observed cases of CAs was 7085 out of 288,184 births (prevalence 245.8 per 10,000). For some CSs, excesses for several CA subgroups were observed, in particular for genital and heart defects. The excess of genital CAs observed in Gela (O/E 2.36; 90% CI 1.73-3.15) is consistent with findings from other studies. For CSs including petrochemical and landfills, the pooled risk estimates were 1.10 (90% CI 1.01-1.19) and 1.07 (90% CI 1.02-1.13), respectively. The results are useful in identifying priority areas for analytical investigations and in supporting the promotion of policies for the primary prevention of CAs. The use of short-latency effect indicators is recommended for the health surveillance of the populations residing in CSs.

  3. ZIKA VIRUS INFECTION; VERTICAL TRANSMISSION AND FOETAL CONGENITAL ANOMALIES.

    PubMed

    Abbasi, Aziz-un-Nisa

    2016-01-01

    Zika virus (ZIKV) is an arbovirus belonging to flaviviridae family that includes Dengue, West Nile, and Yellow Fever among others. Zika virus was first discovered in 1947 in Zika forest of Uganda. It is a vector borne disease, which has been sporadically reported mostly from Africa, Pacific islands and Southeast Asia since its discovery. ZIKV infection presents as a mild illness with symptoms lasting for several days to a week after the bite of an infected mosquito. Majority of the patients have low grade fever, rash, headaches, joints pain, myalgia, and flu like symptoms. Pregnant women are more vulnerable to ZIKV infection and serious congenital anomalies can occur in foetus through trans-placental transmission. The gestation at which infection is acquired is important. Zika virus infection acquired in early pregnancy poses greater risk. There is no evidence so far about transmission through breast milk. Foetal microcephaly, Gillian Barre syndrome and other neurological and autoimmune syndromes have been reported in areas where Zika outbreaks have occurred. As infection is usually very mild no specific treatment is required. Pregnant women may be advised to take rest, get plenty of fluids. For fever and pain they can take antipyretics like paracetamol. So far no specific drugs or vaccines are available against Zika Virus Infection so prevention is the mainstay against this diseases. As ZIKV infection is a vector borne disease, prevention can be a multi-pronged strategy. These entail vector control interventions, personal protection, environmental sanitation and health education among others.

  4. Role of angiotensin in the congenital anomalies of the kidney and urinary tract in the mouse and the human.

    PubMed

    Yerkes, E; Nishimura, H; Miyazaki, Y; Tsuchida, S; Brock, J W; Ichikawa, I

    1998-09-01

    The role of angiotensin in fluid and electrolyte and blood pressure homeostasis is well known. Recent developments indicate that angiotensin has a profound role not only in the developing urinary tract but also in the response of the urinary tract to specific noxious stimuli. Furthermore, the role of angiotensin II and its receptor has been understood quite poorly with respect to the developing renal unit. Knockout mice for the ATR2 gene show a significant incidence of congenital urinary tract anomalies. The congenital anomalies of the kidney and urinary tract (CAKUT) seen in these mice are very similar to the anomalies observed in humans. This has been supported further by the finding of an abnormality in the genetic sequence in patients with CAKUT. This article reviews experimental laboratory data as well as the potential implications for humans.

  5. Chlorination Disinfection By-Products and Risk of Congenital Anomalies in England and Wales

    PubMed Central

    Nieuwenhuijsen, Mark J.; Toledano, Mireille B.; Bennett, James; Best, Nicky; Hambly, Peter; de Hoogh, Cornelis; Wellesley, Diana; Boyd, Patricia A.; Abramsky, Lenore; Dattani, Nirupa; Fawell, John; Briggs, David; Jarup, Lars; Elliott, Paul

    2008-01-01

    Background Increased risk of various congenital anomalies has been reported to be associated with trihalomethane (THM) exposure in the water supply. Objectives We conducted a registry-based study to determine the relationship between THM concentrations and the risk of congenital anomalies in England and Wales. Methods We obtained congenital anomaly data from the National Congenital Anomalies System, regional registries, and the national terminations registry; THM data were obtained from water companies. Total THM (< 30, 30 to < 60, ≥60 μg/L), total brominated exposure (< 10, 10 to < 20, ≥20 μg/L), and bromoform exposure (< 2, 2 to < 4, ≥4 μg/L) were modeled at the place of residence for the first trimester of pregnancy. We included 2,605,226 live births, stillbirths, and terminations with 22,828 cases of congenital anomalies. Analyses using fixed- and random-effects models were performed for broadly defined groups of anomalies (cleft palate/lip, abdominal wall, major cardiac, neural tube, urinary and respiratory defects), a more restricted set of anomalies with better ascertainment, and for isolated and multiple anomalies. Data were adjusted for sex, maternal age, and socioeconomic status. Results We found no statistically significant trends across exposure categories for either the broadly defined or more restricted sets of anomalies. For the restricted set of anomalies with isolated defects, there were significant (p < 0.05) excess risks in the high-exposure categories of total THMs for ventricular septal defects [odds ratio (OR) = 1.43; 95% confidence interval (CI), 1.00–2.04] and of bromoform for major cardiovascular defects and gastroschisis (OR = 1.18; 95% CI, 1.00–1.39; and OR = 1.38; 95% CI, 1.00–1.92, respectively). Conclusion In this large national study we found little evidence for a relationship between THM concentrations in drinking water and risk of congenital anomalies. PMID:18288321

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

    PubMed Central

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

    2014-01-01

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

  7. Congenital anomaly of combined atlas-odontoid process fusion and bipartite atlas.

    PubMed

    Gil, Jea Ryoung; Kim, Wan Tae; Seo, Min Jeong

    2015-12-01

    Congenital fusion of the atlas with the odontoid process of the axis is a very rare condition caused by a segmental defect of the first cervical somite. Only 9 such cases have been reported in the literature to date. The bipartite atlas, another well-documented rare anomaly, has been observed in only 0.1% of the general population. We describe the first case of a 70-year-old male with both of these complex congenital anomalies.

  8. [Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region].

    PubMed

    Gimeno-Martos, S; Cavero-Carbonell, C; López-Maside, A; Bosch-Sánchez, S; Martos-Jiménez, C; Zurriaga, O

    2016-04-01

    To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011. Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test. A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births. The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  9. [Frequency of congenital anomalies at the Instituto Materno Infantil, Bogota, Colombia].

    PubMed

    García, Herbert; Salguero, Gustavo Andrés; Moreno, Jeffer; Arteaga, Clara; Giraldo, Alejandro

    2003-06-01

    At the Instituto Materno Infantil (IMI) in Bogotá (Colombia), 5,686 births (5,597 live births and 89 stillbirths) were analyzed during two periods: from October, 1997, to April, 1998, and from July to November, 2000 (12 months). Congenital anomalies were detected in 4.4% of live newborn babies and in 7.8% of stillbirths. Major anomalies corresponded to 69% and mild anomalies to 31% (3% and 1.4% of all live births, respectively). The newborn babies with major anomalies, in comparison to the normal controls, had higher mortality at hospital discharge (p = 0.0001), lower average birth weight (p = 0.003), and family history of congenital anomalies (p = 0.0001). The only significant association for mild anomalies was with family history of congenital anomalies (p = 0.0001). The frequency of congenital anomalies was similar to that in other studies, although certain kinds of anomalies showed noticeable frequency differences. This may be a consequence of differences in record keeping or in detection methods.

  10. Impact of maternal body mass index on the antenatal detection of congenital anomalies.

    PubMed

    Best, K E; Tennant, P W G; Bell, R; Rankin, J

    2012-11-01

    To investigate the association between maternal body mass index (BMI) and antenatal ultrasound detection of congenital anomalies. Population-based register study. North of England (UK). All pregnancies (n = 3096) associated with a congenital anomaly notified to the Northern Congenital Abnormality Survey (NorCAS) during 2006-2009. Cases with chromosomal and teratogenic anomalies (n = 611) or without information on antenatal scanning (n = 4) were excluded. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) for antenatal detection according to maternal BMI categories were estimated using logistic regression. For all anomalies combined, cases were defined as 'detected' if any congenital anomaly was suspected antenatally. Organ system-specific anomalies were defined as detected if an anomaly of the correct system was suspected. Antenatal detection of any anomaly occurred in 1146 of 2483 (46.2%) cases with normal karyotype. The odds of detection were significantly decreased in obese (BMI ≥ 30 kg/m(2)) women compared with women of recommended BMI (18.5-24.9 kg/m(2); aOR, 0.77; 95% CI, 0.60-0.99; P = 0.046). Cardiovascular system anomalies were suspected antenatally in 109 of 945 (11.5%) cases. The odds of detecting a cardiovascular anomaly were significantly greater in underweight women (BMI < 18.5 kg/m(2)) than in women of recommended BMI (aOR, 2.95; 95% CI, 1.13-7.70; P = 0.027). There was no association between BMI and detection in any other organ system or between BMI and termination of pregnancy for fetal anomaly. Antenatal ultrasound detection of a congenital anomaly is decreased in obese pregnant women. This has implications for the scanning and counselling of obese women. © 2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG.

  11. Fetus papyraceus: congenital pulmonary anomalies associated with congenital aplasia cutis on the surviving twin.

    PubMed

    Louise, Lagier; Annabel, Maruani; Hubert, Lardy; Isabelle, Gibertini; Gerard, Lorette

    2013-01-01

    Aplasia cutis congenita (ACC) can be associated with fetus papyraceus. We report here the first case of ACC linked to fetus papyraceus with pulmonary anomalies. At birth, the patient presented with skin lesions of the trunk consisting of well-defined, symmetrically distributed, bilateral atrophic ulcerations. Physical examination was otherwise normal. Persistent bronchospasm occurred at the age of 7 months; computed tomography images showed small bilateral pulmonary bullae. At the age of 5 years, skin and pulmonary lesions had not extended. Although the mechanisms of ACC linked to fetus papyraceus are unclear, vascular ischemia is strongly suggested, and could explain the bilateral and symmetric congenital skin and lung aplasia. © 2013 Wiley Periodicals, Inc.

  12. Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly.

    PubMed

    Goldfisher, Rachelle; Bawa, Pritish; Ibrahim, Zachary; Amodio, John

    2015-01-01

    Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features.

  13. Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly

    PubMed Central

    Bawa, Pritish; Ibrahim, Zachary; Amodio, John

    2015-01-01

    Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features. PMID:26078904

  14. Ebstein anomaly review: what's now, what's next?

    PubMed

    Dearani, Joseph A; Mora, Bassem N; Nelson, Timothy J; Haile, Dawit T; O'Leary, Patrick W

    2015-10-01

    Ebstein anomaly accounts for 1% of all congenital heart disease. It is a right ventricular myopathy with failure of tricuspid valve delamination and highly variable tricuspid valve morphology that usually results in severe regurgitation. It is the only congenital heart lesion that has a range of clinical presentations, from the severely symptomatic neonate to an asymptomatic adult. Neonatal operation has high operative mortality, whereas operation performed beyond infancy and into adulthood has low operative mortality. Late survival and quality of life for hospital survivors are excellent for the majority of patients in all age brackets. Atrial tachyarrhythmias are the most common late complication. There have been more techniques of tricuspid repair reported in the literature than any other congenital or acquired cardiac lesion. This is largely due to the infinite anatomic variability encountered with this anomaly. The cone reconstruction of Ebstein anomaly can achieve near anatomic restoration of the tricuspid valve anatomy. Early and intermediate results with these repairs are promising. Reduced right ventricular function continues to be a challenge for some patients, as is the need for reoperation for recurrent tricuspid regurgitation. The purpose of this article is to outline the current standard of care for diagnosis and treatment of Ebstein anomaly and describe innovative strategies to address poor right ventricular function and associated right-sided heart failure.

  15. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies.

    PubMed

    Grimbizis, Grigoris F; Gordts, Stephan; Di Spiezio Sardo, Attilio; Brucker, Sara; De Angelis, Carlo; Gergolet, Marco; Li, Tin-Chiu; Tanos, Vasilios; Brölmann, Hans; Gianaroli, Luca; Campo, Rudi

    2013-08-01

    What classification system is more suitable for the accurate, clear, simple and related to the clinical management categorization of female genital anomalies? The new ESHRE/ESGE classification system of female genital anomalies is presented. Congenital malformations of the female genital tract are common miscellaneous deviations from normal anatomy with health and reproductive consequences. Until now, three systems have been proposed for their categorization but all of them are associated with serious limitations. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE) have established a common Working Group, under the name CONUTA (CONgenital UTerine Anomalies), with the goal of developing a new updated classification system. A scientific committee (SC) has been appointed to run the project, looking also for consensus within the scientists working in the field. The new system is designed and developed based on (i) scientific research through critical review of current proposals and preparation of an initial proposal for discussion between the experts, (ii) consensus measurement among the experts through the use of the DELPHI procedure and (iii) consensus development by the SC, taking into account the results of the DELPHI procedure and the comments of the experts. Almost 90 participants took part in the process of development of the ESHRE/ESGE classification system, contributing with their structured answers and comments. The ESHRE/ESGE classification system is based on anatomy. Anomalies are classified into the following main classes, expressing uterine anatomical deviations deriving from the same embryological origin: U0, normal uterus; U1, dysmorphic uterus; U2, septate uterus; U3, bicorporeal uterus; U4, hemi-uterus; U5, aplastic uterus; U6, for still unclassified cases. Main classes have been divided into sub-classes expressing anatomical varieties with clinical significance. Cervical and

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

    PubMed

    Cavadino, Alana; Prieto-Merino, David; Addor, Marie-Claude; Arriola, Larraitz; Bianchi, Fabrizio; Draper, Elizabeth; Garne, Ester; Greenlees, Ruth; Haeusler, Martin; Khoshnood, Babak; Kurinczuk, Jenny; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Wellesley, Diana; Morris, Joan K

    2016-06-01

    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 combine information from several subgroups simultaneously would enhance current surveillance methods using data collected by EUROCAT, a European network of population-based congenital anomaly registries. Ten-year trends (2003 to 2012) in 18 EUROCAT registries over 11 countries were analyzed for the following groups of anomalies: neural tube defects, congenital heart defects, digestive system, and chromosomal anomalies. Hierarchical Poisson regression models that combined related subgroups together according to EUROCAT's hierarchy of subgroup coding were applied. Results from hierarchical models were compared with those from Poisson models that consider each congenital anomaly separately. Hierarchical models gave similar results as those obtained when considering each anomaly subgroup in a separate analysis. Hierarchical models that included only around three subgroups showed poor convergence and were generally found to be over-parameterized. Larger sets of anomaly subgroups were found to be too heterogeneous to group together in this way. There were no substantial differences between independent analyses of each subgroup and hierarchical models when using the EUROCAT anomaly subgroups. Considering each anomaly separately, therefore, remains an appropriate method for the detection of potential changes in prevalence by surveillance systems. Hierarchical models do, however, remain an interesting alternative method of analysis when considering the risks of specific exposures in relation to the prevalence of congenital anomalies, which could be investigated in other studies. Birth Defects Research (Part A) 106:480-10, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  17. Concealment, depression and poor quality of life in patients with congenital facial anomalies.

    PubMed

    Lim, So-Young; Lee, Dongsoo; Oh, Kap Sung; Nam, Bora; Bang, Sa-Ik; Mun, Goo-Hyun; Pyon, Jai-Kyong; Kim, Ji-Hae; Chang Yoon, Se; Song, Hyo-Seok; Jeon, Hong Jin

    2010-12-01

    Studies have shown that patients with congenital facial anomalies are vulnerable to depression. In addition, concealment of facial anomalies in an effort to mask handicaps is common, and these patients also often have difficulties with interpersonal relationships and in social situations. Despite this, no previous study has investigated the association between concealment of facial anomalies and depression, and a patient's quality of life. A group of 65 patients, who had been scheduled for plastic surgery, completed this study. A total of 50 patients who had congenital facial anomalies, some of whom concealed their facial anomalies (N=22), and some whom didn't (N=28), as well as 15 patient controls were interviewed and subsequently administered the Beck Depression Inventory-II (BDI-II), the Structured Clinical Interview for DSM-IV (SCID), the Millon Behavioral Medicine Diagnostic (MBMD) and the WHO Quality of Life (WHOQOL). Among patients with congenital facial anomalies, those who concealed their anomalies exhibited a significantly higher level of depression and anxiety; higher rates of self-accusation, dissatisfaction, hypochondria, weight loss and antisocial personality traits; and a lower quality of life than those who did not conceal their anomalies. To the contrary, no significant differences were found with respect to depression, anxiety and quality of life between the congenital facial anomaly group and controls. Further, the concealment of facial anomalies was a significant predictor for lifetime major depressive disorder (odds ratio (OR)=7.1, 95% confidence interval (CI) 1.4-37.3), after adjusting for age, gender and microtia. Facial concealment is a significant predictor of depression and poor quality of life in patients with congenital facial anomalies. Copyright © 2010 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

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

    PubMed

    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

    2017-06-30

    To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status. According to WHO, 17%-42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. Anesthetic Management of the Pediatric Patient with Multiple Congenital Anomalies Including Severe Hemifacial Hypertrophy*

    PubMed Central

    Trapp, Larry D.; Lee, ChingMuh; Troutman, Kenneth C.; Simon, Jeffrev E.

    1981-01-01

    An anesthesia induction technique not widely utilized is described for a pediatric patient presenting with severe hemifacial hypertrophy, severe mental retardation, as well as a seizure disorder and other congenital anomalies. The anatomically and/or pathologically altered airway as well as other anomalies increase the risks of anesthesia. ImagesFigure 1Figure 2Figure 3Figure 4 PMID:6211111

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

    PubMed

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

    2017-04-01

    We aim to define the frequencies of anomalies of the inner ear, oval window, and round window ipsilateral to isolated non-syndromic unilateral aural atresia. Retrospective case series. We reviewed high resolution computed tomography scans of the temporal bones of 70 children with isolated non-syndromic unilateral congenital aural atresia. Scans were reviewed according to the Jahrsdoerfer criteria and further evaluated for anomalies of the vestibule, semi-circular canals, cochlea, internal auditory canal and vestibulocochlear nerve. Inner ear dysplasia was seen in two of 70 atretic ears: one with a dysmorphic lateral semicircular canal and another with a large vestibule assimilating the lateral semicircular canal. Abnormalities of the oval window and round window ipsilateral to the atresia were identified in 21% (15) and 7% (5), respectively, of the atretic ears. Oval window and round window abnormalities were associated with disproportionately lower Jahrsdoerfer scores compared to aural atresia patients without these abnormalities (P < 0.001 and P = 0.04, respectively). Compared to studies that included syndromic or bilateral atresia cases, we found inner ear and oval window abnormalities less common in children with isolated non-syndromic unilateral aural atresia. However, round window anomalies seem to occur at about the same frequency. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Congenital anomalies of soft tissues: birth defects depending on tissue engineering solutions and present advances in regenerative medicine.

    PubMed

    Saxena, Amulya K

    2010-10-01

    Congenital anomalies encompass a wide range of malformations that could affect various organs and tissues in the newborn and infant population. These disorders that involve defects in or injury to a developing fetus may be a result of genetic abnormalities or mutations, alterations in the intrauterine environment, irregularities in morphogenesis, or chromosomal aberration. The outcome of these defects could lead to minor anomalies or major malformations that are dependent on the complex processes between the prenatal deficit and postnatal environment. Often multiple malformations occur within the same fetus and give rise to a malformation syndrome. Since congenital anomalies are evident at birth, solutions must be found to improve the clinical state and quality of life that a newborn has to lead from infancy through adolescence into adulthood. Transplantation options in this age group are limited due to the shortage of organs and the discrepancy in adult donor size mismatch. Over the past 2 decades tremendous strides have been made in the research of biomaterials, stem cells, organ generation, and tissue engineering to provide viable solutions to a wide range of organ and tissue losses focusing on the adult population. This review intends to highlight the shortage of tissue and organs in neonates and infants with congenital malformations. This is also the first monograph that presents estimation of incidences of the congenital malformations based on an extensive literature search. It also outlines the challenges in clinical management of these entities and presents an organ-based demand for engineered tissues.

  2. The association between congenital anomalies and autism spectrum disorders in a Finnish national birth cohort.

    PubMed

    Timonen-Soivio, Laura; Vanhala, Raija; Malm, Heli; Leivonen, Susanna; Jokiranta, Elina; Hinkka-Yli-Salomäki, Susanna; Gissler, Mika; Brown, Alan S; Sourander, Andre

    2015-01-01

    The first aim of this study was to evaluate the association between different subgroups of autism spectrum disorders (ASDs) (childhood autism, Asperger syndrome, and pervasive developmental disorder/pervasive developmental disorder - not otherwise specified [PDD/PDD-NOS]) and congenital anomalies. Second, we assessed the association among intellectually disabled children with ASDs in the subgroups of childhood autism and PDD/PDD-NOS. Nationwide population-based register data for children with a diagnosis of ASD (n=4449; 3548 males, 901 females) were collected during years 1987-2000 from the Finnish Hospital Discharge Register. Data on congenital anomalies were derived from the National Register of Congenital Malformations. Conditional logistic regression models were used as a statistical method. The association between ASD subgroups and congenital anomalies was stratified by the presence or absence of intellectual disability. Congenital anomalies occurred more frequently in all subgroups of ASD than in comparison participants (adjusted odds ratio [OR] for major congenital anomalies 1.8, 95% confidence interval [CI] 1.5-2.2, p<0.001). The association between congenital anomalies and childhood autism (OR 2.4, 95% CI 1.6-3.6, p<0.001) and between congenital anomalies and PDD/PDD-NOS (OR 3.7, 95% CI 2.4-5.7, p<0.001) among children with an intellectual disability was strong but remained significant also without intellectual disability (childhood autism: OR 1.7, 95% CI 1.3-2.3, p<0.001; PDD/PDD-NOS: OR 2.3, 95% CI 1.9-2.8, p<0.001). The results suggest a significant association between ASDs and congenital anomalies regardless of the ASD subgroup. The association between childhood autism and PDD/PDD-NOS and congenital anomalies is stronger among children with intellectual disability is stronger than among those without intellectual disability. These results may have relevance in examining early risk factors in autism during fetal neurodevelopment. © 2014 Mac Keith Press.

  3. The association between congenital anomalies and autism spectrum disorders in a Finnish national birth cohort

    PubMed Central

    TIMONEN-SOIVIO, LAURA; VANHALA, RAIJA; MALM, HELI; LEIVONEN, SUSANNA; JOKIRANTA, ELINA; HINKKA-YLI-SALOMÄKI, SUSANNA; GISSLER, MIKA; BROWN, ALAN S; SOURANDER, ANDRE

    2014-01-01

    Aim The first aim of this study was to evaluate the association between different subgroups of autism spectrum disorders (ASDs) (childhood autism, Asperger syndrome, and pervasive developmental disorder/pervasive developmental disorder – not otherwise specified [PDD/PDD-NOS]) and congenital anomalies. Second, we assessed the association among intellectually disabled children with ASDs in the subgroups of childhood autism and PDD/PDD-NOS. Method Nationwide population-based register data for children with a diagnosis of ASD (n=4449; 3548 males, 901 females) were collected during years 1987–2000 from the Finnish Hospital Discharge Register. Data on congenital anomalies were derived from the National Register of Congenital Malformations. Conditional logistic regression models were used as a statistical method. The association between ASD subgroups and congenital anomalies was stratified by the presence or absence of intellectual disability. Results Congenital anomalies occurred more frequently in all subgroups of ASD than in comparison participants (adjusted odds ratio [OR] for major congenital anomalies 1.8, 95% confidence interval [CI] 1.5–2.2, p<0.001). The association between congenital anomalies and childhood autism (OR 2.4, 95% CI 1.6–3.6, p<0.001) and between congenital anomalies and PDD/PDD-NOS (OR 3.7, 95% CI 2.4–5.7, p<0.001) among children with an intellectual disability was strong but remained significant also without intellectual disability (childhood autism: OR 1.7, 95% CI 1.3–2.3, p<0.001; PDD/PDD-NOS: OR 2.3, 95% CI 1.9–2.8, p<0.001). Interpretation The results suggest a significant association between ASDs and congenital anomalies regardless of the ASD subgroup. The association between childhood autism and PDD/PDD-NOS and congenital anomalies is stronger among children with intellectual disability is stronger than among those without intellectual disability. These results may have relevance in examining early risk factors in autism during

  4. Anomalies

    SciTech Connect

    Bardeen, W.A.

    1985-08-01

    Anomalies have a diverse impact on many aspects of physical phenomena. The role of anomalies in determining physical structure from the amplitude for decay to the foundations of superstring theory will be reviewed. 36 refs.

  5. [The validity of the Spanish Minimum Basic Data Set to identify congenital anomalies in the Valencian Community (Spain)].

    PubMed

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

    To assess the validity of the Spanish Minimum Basic Data Set (MBDS) for identifying major congenital anomalies in the Valencian Community. A retrospective epidemiological study was carried out. Children under the age of one year, born in 2007 and residing in the Valencian Community with congenital anomalies code 740-759 CIE9-MC, were selected from the MBDS, in addition to a random sample of children under the age of 1 year without these discharge codes. Having reviewed the clinical documentation, the cases were classified as true positives and negatives and false positives and negatives. Positive and negative predictive value and sensitivity were calculated. The kappa test was applied to analyse diagnostic consistency between the MBDS and the clinical documentation. A total of 2305 discharges of 1651 patients were identified. 4 out of the 5434 patients sampled had a major congenital abnormality. The positive predictive value was 56.4% (95% confidence interval [95%CI]: 53.9-58.8) and the negative predictive value was 99.3% (95%CI: 98.6-100.0). MBDS sensitivity was 68.6% (95%CI: 66.1-71.1). The most common codes in the true positives were: 745.5 (atrial septal defect), 745.4 (ventricular septal defect) and 747.0 (patent ductus arteriosus) and in the false positives: 747.0, 745.5 and 752.51 (cryptorchidism). 25.5% of diagnoses with congenital anomaly from the MBDS were not in the clinical documentation. Considering all diagnoses coded in the MBDS, the correlation was 0.70 (95%CI: 0.68-0.72) CONCLUSIONS: The MBDS is the main source of information to detect cases in the registry of congenital anomalies of the Valencian Community. Its main limitation is the high number of false positive cases detected. Copyright © 2016 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Congenital anomalies of kidney and upper urinary tract in children with congenital hypothyroidism; a case-control study

    PubMed Central

    Yousefichaijan, Parsa; Dorreh, Fatemeh; Rafeie, Mohammad; Sharafkhah, Mojtaba; Safi, Fatemeh; Amiri, Mohammad; Ebrahimimonfared, Mohsen

    2015-01-01

    Introduction: Congenital hypothyroidism (CH) may be significantly associated with congenital malformations. However, there is little evidence on the relationship between renal and urinary tract anomalies and CH. Objectives: The aim of this study was to compare the renal and upper urinary tract anomalies in children with and without primary CH (PCH). Patients and Methods: This case-control study was conducted on 200 children aged 3 months to 1 year, referring to Amir-Kabir hospital, Arak, Iran. One hundred children with PCH, as the case group, and 100 children without CH, as the control group, were selected. For all children, ultrasonography and other diagnostic measures (if necessary) were performed to evaluate renal and upper urinary tract anomalies (ureter and bladder). Results: The frequency of renal and upper urinary tract anomalies among 43 children with primary CH, with 83 cases (72.8%), was significantly higher than the frequency of anomalies among the 19 children in the control group, with 31 cases (27.1%) (OR = 3; CI 95%: 1.6-5.4; P = 0.001). Among the anomalies studied, only the differences in frequency of uretero-pelvic junction obstruction (UPJO) (OR = 6; CI 95%: 1.3-28; P = 0.018) and hydronephrosis (OR = 22; CI 95%: 5-95; P = 0.001) was significant between the two groups. Conclusion: Our study demonstrated that PCH is significantly associated with the frequency of congenital anomalies of the kidneys and upper urinary tracts. However, further studies are recommended to determine the necessity of conducting screening programs for anomalies of the kidneys and urinary tract in children with CH at birth. PMID:26693499

  7. Fetal congenital anomalies diagnosed by ultrasound in Asian and non-Asian women.

    PubMed

    Atkinson, D E; Amin, F; Russell, S; D'Souza, S W

    2008-10-01

    The incidence of congenital heart defects in Asian children is significantly higher than in non-Asian, however little data are available for other anomalies. The Fetal Management Unit at St Mary's Hospital is a tertiary referral centre for prenatal diagnosis in the north-west region. Using data collected after routine prenatal ultrasonography between 1996-2001, we show that in a defined population there was a significant reduction in the incidence of central nervous system (CNS) anomalies over this period but not in other anomalies. Furthermore, fetal congenital anomalies were diagnosed in a higher proportion of Asian than non-Asian women, with CNS, cardiac, bowel, thoracic and facial anomalies and hydrops being statistically significant. Monitoring local trends in a multiethnic community is essential for appropriate counselling, providing parents with an informed choice and in assessing the effectiveness of interventions.

  8. Congenital anomalies identified at birth among infants born following assisted reproductive technology in Colorado.

    PubMed

    Moses, X J Ethan; Torres, Tirsa; Rasmussen, Anna; George, Christopher

    2014-02-01

    Assisted reproductive technology (ART) has assisted many infertile couples in conceiving. Despite increasing use in the United States, the association between ART and congenital anomalies remains a highly contested subject. We conducted a study to examine the risk of congenital anomalies among infants conceived using ART. A retrospective cohort study of 344,567 infants born in Colorado from 2007 to 2011 was conducted using data obtained from the Colorado Birth Certificate Database. The incidence of congenital anomalies identified at birth following conception with ART was assessed and compared with all naturally conceived infants born during the same time period. The odds ratio was calculated using multiple logistic regression after adjusting for multiple confounders. Of 2071 infants, 23 (1.11%) conceived using ART had a congenital anomaly identified at birth compared with 3826 (1.12%) of 342,496 infants conceived naturally. The adjusted odds ratio of a congenital anomaly among infants born following conception with ART was 1.01 (95% confidence interval, 0.67-1.52). The proportion of infants born following usage of ART in Colorado has not changed significantly (p = 0.20) from 2007 to 2011 with an overall proportion of 0.60% (range 0.52-0.64%), while the incidence of congenital anomalies has decreased significantly (p = 0.002) during the study years with an average of 1.12% (range, 0.92-1.25%). This study suggests that conception by means of ART is not associated with an increased risk of congenital abnormalities identified by birth certificate data in Colorado when compared with births following natural conception. Copyright © 2014 Wiley Periodicals, Inc.

  9. Temporal High-Resolution Computed Tomography and Magnetic Resonance Imaging of Congenital Inner Ear Anomalies in Children.

    PubMed

    Palabiyik, Figen Bakirtas; Hacikurt, Kadir

    2016-10-01

    Imaging plays an important role in determining indications of cochlear implantation and choosing candidates for the procedure in children. Temporal high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) can display precisely the complex anatomic structure of inner ear. Although HRCT permits detailed imaging of bony structures, MRI gives valuable information about membranous labyrinth, internal acoustic canal, and vestibulocochlear nerve. Magnetic resonance imaging examination of the brain should be performed at the same time to evaluate any coexistent brain parenchymal abnormality. These imaging modalities are complementary methods in evaluating congenital inner ear anomalies. The aim of this pictorial essay is to reviewing temporal HRCT and MRI findings of congenital inner ear anomalies.

  10. Associations Between Pediatric Choledochal Cysts, Biliary Atresia, and Congenital Cardiac Anomalies

    PubMed Central

    Murphy, Andrew J.; Axt, Jason R.; Lovvorn, Harold N.

    2012-01-01

    Background In our institutional experience treating pediatric choledochal cysts over the last 12 years, we noted 7/32 patients (21.9%) had comorbid congenital cardiac anomalies. This association has not been previously described other than in isolated case reports. We aimed to quantify this association on a national level. Materials and Methods We queried the 2009 Healthcare Cost and Utilization Project Kids' Inpatient Database. Patients with a diagnosis of choledochal cyst (ICD-9-CM 75169, 75162, 75160) or biliary atresia (75161) were identified. Cardiac anomalies were defined using the Clinical Classification Software code (CCS 213). Comorbid choledochal cysts or biliary atresia and congenital cardiac anomalies were quantified in both infant (<12 mos) and child (1–18 yrs) subpopulations. Results Of 1,646 estimated discharges for patients with choledochal cysts, 506 (30.7%) were for patients who also had congenital cardiac anomalies, compared to 2.6% in the general hospitalized population (χ2, p<0.0001). The frequency of congenital cardiac anomalies was lower in 1,973 hospitalizations for biliary atresia (13.8%) than in those for patients with choledochal cysts (χ2, p<0.0001). Cardiac anomalies were detected in 44.9% of choledochal cyst hospitalizations for infants <12 months (vs. 3.44% general hospitalized population; χ2, p<0.0001), but in 6.9% of for children ages 1–18 yrs (vs. 1.3% general hospitalized population; χ2, p<0.0001). Conclusions A strong association was observed between pediatric choledochal cysts and congenital cardiac anomalies that more commonly manifests in infancy. When choledochal cysts are diagnosed either prenatally or in infancy, we suggest echocardiographic screening for cardiac anomalies, which may impact timing of surgery and anesthetic planning. PMID:22572617

  11. Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (From The International PHACE Syndrome Registry)

    PubMed Central

    Bayer, Michelle L.; Frommelt, Peter C.; Blei, Francine; Breur, Johannes M.P.J.; Cordisco, Maria R.; Frieden, Ilona J.; Goddard, Deborah S.; Holland, Kristen E.; Krol, Alfons L.; Maheshwari, Mohit; Metry, Denise W.; Morel, Kimberly D.; North, Paula E.; Pope, Elena; Shieh, Joseph T.; Southern, James F.; Wargon, Orli; Siegel, Dawn H.; Drolet, Beth A.

    2014-01-01

    PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral/midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease in PHACE is incompletely described, and this study was conducted to better characterize its features. This study of the International PHACE Syndrome Registry represents the largest central review of clinical, radiology, and pathology data for cardiovascular anomalies in PHACE patients to date. 62/150 (41%) subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31/150 (21%) of subjects). Coarctation was the second most common anomaly, identified in 28/150 (19%), and can be missed clinically in PHACE patients because of the frequent association of arch obstruction with aberrant subclavian origin. 23/62 (37%) subjects with cardiovascular anomalies required procedural intervention. A higher percentage of hemangiomas were located on the left side of the head/neck in patients with coarctation (46% vs. 39%); however, hemangioma distribution did not predict the presence of cardiovascular anomalies overall. In conclusion, PHACE is associated with a high risk of congenital heart disease. Cardiac and aortic arch imaging with detailed assessment of arch patency and brachiocephalic origins is essential for any patient suspected of having PHACE. Longitudinal investigation is needed to determine the long-term outcomes of cardiovascular anomalies in PHACE. PMID:24079520

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

    PubMed

    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.

  13. Maternal cancer and congenital anomalies in children – a Danish nationwide cohort study

    PubMed Central

    Momen, Natalie C.; Ernst, Andreas; Arendt, Linn Håkonsen; Olsen, Jørn; Li, Jiong; Gissler, Mika; Rasmussen, Finn; Ramlau-Hansen, Cecilia Høst

    2017-01-01

    Several studies on pregnancy-associated cancers have suggested an association with congenital anomalies in offspring. Previous studies have included maternal cancers diagnosed up to 2 years after pregnancy; however, long latency periods of some cancers mean that cancers diagnosed many years postpartum might have been present during pregnancy in a preclinical state. This paper considers the association between maternal cancers diagnosed from 2 years prior to pregnancy until the mother reaches 50 years of age, and congenital anomalies, as diagnosed at birth or within the first year of life. The current population-based study looks at associations of cancers in mothers with congenital anomalies in their children. Children were followed up from birth to diagnosis of a congenital anomaly, death, emigration or end of follow-up (whichever occurred first). A total of 56,016 children (2.6%) were considered exposed to a maternal cancer of any type; and they had a hazard ratio (HR) of 1.04 (95% confidence interval [CI]: 1.00, 1.09) compared with unexposed children. The greatest HR was seen among children whose mothers had been diagnosed with cancers before or during pregnancy (HR: 1.37, 95% CI: 1.07, 1.75). Similar results were seen when paternal cancers were used as a ‘negative control’. Statistically significant associations were seen for some specific congenital anomalies of organ systems (congenital anomalies of the musculoskeletal system [HR: 1.13, 95% CI: 1.02, 1.25]) and for some specific types of maternal cancer (leukaemia [HR: 1.31, 95% CI: 1.01, 1.61], The results of the main analyses suggest a small increase in risk of congenital anomalies in offspring of mothers diagnosed with cancer from 2 years before pregnancy, until the mother reaches 50 years of age; with the greatest increase seen for exposure in the pre-pregnancy and pregnancy period. These results may reflect shared causes for some cancers and some congenital anomalies. The similar results seen for

  14. Increased risk of death with congenital anomalies in the offspring of male semiconductor workers.

    PubMed

    Lin, Ching-Chun; Wang, Jung-Der; Hsieh, Gong-Yih; Chang, Yu-Yin; Chen, Pau-Chung

    2008-01-01

    Female workers in the semiconductor industry have higher risks of subfertility and spontaneous abortion, but no studies exploring male-mediated developmental toxicity have been published. This study aimed to investigate whether the offspring of male workers employed in the semiconductor manufacturing industry had an increased risk of death with congenital anomalies. The 6,834 male workers had been employed in the eight semiconductor companies in Taiwan between 1980 and 1994. We identified the live born children with or without congenital anomalies of the workers using the National Birth and Death Registries from the Department of Health, Taiwan. Multiple logistic regression models were used to estimate the odds ratios (OR) of birth outcomes and deaths, controlling for infant sex, maternal age, and paternal education. A total of 5,702 children were born to male workers during the period 1980-1994. There were increased risks of deaths with congenital anomalies (adjusted OR, 3.26; and 95% confidence interval [CI], 1.12-9.44) and heart anomalies (OR, 4.15; 95% CI, 1.08-15.95) in the offspring of male workers who were employed during the two months before conception. We found evidence of a possible link between paternal preconception exposure of semiconductor manufacturing and an increased risk of congenital anomalies, especially of the heart. The possible etiological basis needs to be corroborated in further research.

  15. The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors—Is Pharmacogenetics the Key?

    PubMed Central

    Daud, Aizati N. A.; Bergman, Jorieke E. H.; Kerstjens-Frederikse, Wilhelmina S.; Groen, Henk; Wilffert, Bob

    2016-01-01

    Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not. PMID:27529241

  16. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.

    PubMed

    Clark, Robin Dawn; Graham, John M; Friez, Michael J; Hoo, Joe J; Jones, Kenneth Lyons; McKeown, Carole; Moeschler, John B; Raymond, F Lucy; Rogers, R Curtis; Schwartz, Charles E; Battaglia, Agatino; Lyons, Michael J; Stevenson, Roger E

    2009-11-01

    FG syndrome is a rare X-linked multiple congenital anomaly-cognitive impairment disorder caused by the p.R961W mutation in the MED12 gene. We identified all known patients with this mutation to delineate their clinical phenotype and devise a clinical algorithm to facilitate molecular diagnosis. We ascertained 23 males with the p.R961W mutation in MED12 from 9 previously reported FG syndrome families and 1 new family. Six patients are reviewed in detail. These 23 patients were compared with 48 MED12 mutation-negative patients, who had the clinical diagnosis of FG syndrome. Traits that best discriminated between these two groups were chosen to develop an algorithm with high sensitivity and specificity for the p.R961W MED12 mutation. FG syndrome has a recognizable dysmorphic phenotype with a high incidence of congenital anomalies. A family history of X-linked mental retardation, deceased male infants, and/or multiple fetal losses was documented in all families. The algorithm identifies the p.R961W MED12 mutation-positive group with 100% sensitivity and 90% specificity. The clinical phenotype of FG syndrome defines a recognizable pattern of X-linked multiple congenital anomalies and cognitive impairment. This algorithm can assist the clinician in selecting the patients for testing who are most likely to have the recurrent p.R961W MED12 mutation.

  17. The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?

    PubMed

    Daud, Aizati N A; Bergman, Jorieke E H; Kerstjens-Frederikse, Wilhelmina S; Groen, Henk; Wilffert, Bob

    2016-08-13

    Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not.

  18. Congenital anomalies of the IVC—embryological perspective and clinical relevance

    PubMed Central

    Ghandour, Abed; Partovi, Sasan; Karuppasamy, Karunakaravel

    2016-01-01

    With the increased use of cross-sectional imaging, systemic venous anomalies are more frequently being recognized in asymptomatic patients. Accurate characterization of systemic venous anomalies plays a major role in the appropriate selection of a surgical approach or interventional procedure. In this article, we review common and uncommon inferior vena cava (IVC) anomalies. We describe the embryological basis and clinical implications of these anomalies, particularly from an interventional radiology perspective. We also discuss the complications and treatments of these anomalies. PMID:28123970

  19. A case and review of congenital leukonychia.

    PubMed

    Pathipati, Akhilesh S; Ko, Justin M; Yost, John M

    2016-10-15

    Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.

  20. [Morphofunctional correlation in congenital anomalies of the coronary arteries. I. Coronary artery fistulas].

    PubMed

    Rangel-Abundis, A; Muñoz-Castellanos, L; Marín, G; Chávez Pérez, E; Badui, E

    1994-01-01

    In order to explain the congenital coronary arteries malformations, the authors review the recent concepts on the coronary artery morphogenesis, based in the findings that in the human embryo, these arteries evolve from three sources: 1) endothelial aortic buds, 2) cavitary cellular groups from pericardial origin and with angiogenic character, which migrate to the cardiac zones where the coronary arteries will be distributed, and 3) the intramyocardial sinusoids. The anatomic and histologic cardiac alterations will be reflected in modifications of the coronary artery pattern. The coronary artery fistulae are formed by the persistence of the sponge structure of the myocardial wall, present in the early ontogenic steps of the cardiac development; such fistulae alter the normal functions of the coronary vascular tree and are capable to cause angina pectoris to the patient through diverse mechanisms: absence of capillarization, steal phenomenon aggravated by the altered coronary arteries properties when aneurysm or vascular channels are developed. The authors suggest a classification of the congenital coronary arteries anomalies: I. Anomalous origin in the sinus of Valsalva (anomalous and ectopic origin), II. Malformations of the coronary branches (in number, distribution and wall anomalies) and III. Anomalous connection of the coronary arteries: fistulae and persistence of the intramyocardial sinusoids isolated or communicated to left and right ventricles. The latter are frequently associated with aortic or pulmonary valve atresia. They do not cause myocardial ischemia and are formed secondary to the intracavitary elevated pressure which maintained the persistence, dilatation and communication of the ventricular chambers with such sinusoids and coronary arteries in the case of pulmonary valve atresia and with coronary veins in the case of aortic valve atresia.

  1. Peters anomaly: review of the literature.

    PubMed

    Bhandari, Ramanath; Ferri, Sara; Whittaker, Beatrice; Liu, Margaret; Lazzaro, Douglas R

    2011-08-01

    Peters anomaly is a rare dramatic finding at birth and can be associated with other systemic malformations. We performed a literature review of multiple case reports and case series to better define the common characteristics and unusual findings associated with Peters anomaly. A representative case is discussed followed by a literature review of multiple case reports and case series. The literature search was conducted for the years 1969 to 2009. Cases and case series were included in the review of published English ophthalmic literature. Cases were excluded if no information was reported on ocular and systemic malformations or if no information was reported on surgical interventions or outcomes. In addition, if cases did not report laterality of the lesion, they were excluded from the review. Fifty-eight cases were found that fit the above criteria, and the relevant cases were reviewed to better characterize the systemic malformations, interventions, and outcomes associated with Peters anomaly reported in the literature. Fifty-eight cases of Peters anomaly were reviewed. Of those cases reporting sex, 56% were men and 44% of cases were women. In terms of laterality, 67.2% of cases were bilateral versus 32.8% of cases that were unilateral. Moreover, bilateral cases of Peters anomaly were associated with a higher rate of systemic malformations (71.8%) versus unilateral Peters anomaly (36.8%). This difference was significant (P < 0.03 by Fischer exact test). In the 15 eyes where results of penetrating keratoplasty were reported, the overall success rate was 53%. However, the success rate was significantly higher in patients with Peters anomaly type I (87.5%), as opposed to those patients with Peters anomaly type II (14.2%) (P < 0.02 by Fischer exact test). The clinical features, epidemiology, genetics, complications, and treatments of Peters anomaly are presented. Cornea specialists who care for pediatric patients should be aware of the common and uncommon

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

    PubMed

    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.

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

    ERIC Educational Resources Information Center

    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…

  4. Spectrum of Congenital Anomalies among Surgical Patients at a Tertiary Care Centre over 4 Years

    PubMed Central

    Rattan, K. N.; Dhiman, Ankur; Rattan, Ananta

    2017-01-01

    Introduction. Congenital anomalies are important causes of childhood death, chronic illness, and disability in many countries. Congenital malformations are rapidly emerging as one of the major worldwide problems. Aim. To study the percentage of various congenital anomalies among the patients admitted in Department of Pediatric Surgery at a tertiary care centre over a period of four years from 2011 to 2015 in our centre. Results. Neural tube defects were found to be the most common anomalies in 24.3% of the children admitted. Other common anomalies were anorectal malformation (20.7%), tracheoesophageal fistula (20%), and intestinal obstruction (14.84%). Majority (60.5%) of the patients were males. Conclusion. Congenital malformations are rapidly emerging as one of the major worldwide problems as they can result in long-term disability, which may have significant impacts on individuals, families, health-care systems, and societies. Regular antenatal visits and prenatal diagnosis are recommended for prevention, early intervention, and even planned termination, when needed. PMID:28280513

  5. Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities.

    PubMed

    Bellamkonda-Athmaram, V; Sulman, C G; Basel, D G; Southern, J; Konduri, G G; Basir, M A

    2014-04-01

    Alveolar capillary dysplasia is a rare and fatal disease of newborn infants. Here we describe a patient with alveolar capillary dysplasia, multiple congenital anomalies, a novel genetic mutation and previously undocumented airway findings on bronchoscopy. Knowledge of these associations may help diagnose this rare disorder in neonates with hypoxemic respiratory failure.

  6. Pentalogy of Cantrell: An Extremely Rare Congenital Anomaly

    PubMed Central

    Chandran, Suresh; Ari, Dinesh

    2013-01-01

    A baby with the complete form of pentalogy of Cantrell was delivered at 33 weeks of gestation. The hallmark of this syndrome is ectopia cordis (EC) with omphalocele. Even though a fetal diagnosis was made at 14 weeks, parents have decided to continue with the pregnancy. Early antenatal ultrasonographic diagnosis is essential as survival depends mostly on the EC, associated cardiac anomalies and degree of thoraco-abdominal defect. Fetal diagnosis of this lethal anomaly before viability gives the parents an option of termination. PMID:24049753

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

    PubMed

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

    2014-06-01

    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. a comparative (midwives versus clients) questionnaire survey. Cognitive interviews (n=8) were used to validate the internal validity of the midwifery questionnaire results. 1416 Dutch midwives (response 62%) completed a questionnaire measuring their views on appropriate antenatal counselling for congenital anomaly tests. we used the 58-item midwives' version of the QUOTE (prenatal), an instrument to assess clients' counselling preferences. Descriptive statistics were used to explore midwives' views on appropriate counselling and how these relate to client preferences as measured previously with the clients' version of the QUOTE (prenatal). almost all midwives consider the client-midwife relation (100%) and health education (95%) to be (very) important for appropriate antenatal counselling for congenital anomaly tests. Almost half of the midwives consider decision-making support (47%) to be (very) important. These findings are practically congruent with client preferences. Still, clinically relevant differences were found regarding 13 individual items, e.g. more clients than midwives value 'medical information about congenital anomalies' and 'getting advice whether to take prenatal tests or not'. like clients, most midwives value a good client-midwife relation and health education as (very) important for antenatal counselling for congenital anomaly tests. Less than half of them value decision-making support. These findings are in contrast with the literature in which decision-making support is seen as the most important part of antenatal counselling for congenital anomaly tests. preferably, antenatal counselling for congenital anomaly tests should be consistent with the three-function model of antenatal counselling i.e. maintaining a client

  8. Sirenomelia: a rare case of foetal congenital anomaly.

    PubMed

    Dharmraj, Meena; Gaur, Sumitra

    2012-10-01

    Sirenomelia, alternatively known as 'mermaid syndrome' is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid'. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the findings, relative to the present literature and related etiopathogenesis.

  9. Congenital anomalies and in utero antiretroviral exposure in human immunodeficiency virus-exposed uninfected infants.

    PubMed

    Williams, Paige L; Crain, Marilyn J; Yildirim, Cenk; Hazra, Rohan; Van Dyke, Russell B; Rich, Kenneth; Read, Jennifer S; Stuard, Emma; Rathore, Mobeen; Mendez, Hermann A; Watts, D Heather

    2015-01-01

    Most studies examining the association of prenatal antiretroviral (ARV) exposures with congenital anomalies (CAs) in children born to human immunodeficiency virus (HIV)-infected women have been reassuring, but some evidence suggests an increased risk with specific ARV agents. To evaluate the association of in utero ARV exposures with CAs in HIV-exposed uninfected children. Prospective cohort study design. The Pediatric HIV/AIDS Cohort Study's Surveillance Monitoring of ART Toxicities (SMARTT) Study was performed at 22 US medical centers among 2580 HIV-exposed uninfected children enrolled in the SMARTT Study between March 23, 2007, and June 18, 2012. First-trimester exposure to any ARV and to specific ARV medications. The primary end point was a CA based on physician review of infant physical examinations according to the Antiretroviral Pregnancy Registry modification of the Metropolitan Atlanta Congenital Defects Program. Rates of CAs were estimated overall and by birth year. Logistic regression models were used to evaluate the association of CAs with first-trimester ARV exposures, adjusting for demographic and maternal characteristics. Congenital anomalies occurred in 175 of 2580 children, yielding a prevalence of 6.78% (95% CI, 5.85%-7.82%); 242 major CAs were confirmed, including 72 musculoskeletal and 55 cardiovascular CAs. The prevalence of CAs increased significantly among successive birth cohorts (3.8% for children born before 2002 and up to 8.3% for those born 2008-2010). In adjusted models, no association of first-trimester exposures with CAs was found for any ARV, for combination ARV regimens, or for any drug class. No individual ARV in the reverse transcriptase inhibitor drug classes was associated with an increased risk of CAs. Among protease inhibitors, higher odds of CAs were observed for atazanavir sulfate (adjusted odds ratio [aOR], 1.95; 95% CI, 1.24-3.05) and for ritonavir used as a booster (aOR, 1.56; 95% CI, 1.11-2.20). With first

  10. Study of the association between the incidences of congenital anomalies and hydrocephalus in Sudanese fetuses.

    PubMed

    Mahmoud, Mustafa Z; Dinar, Hussien A; Abdulla, Alsafi A; Babikir, Esameldeen; Sulieman, Abdelmoneim

    2014-04-27

    This study was designed with an aim to detect the congenital anomalies appear to be linked to and in conjunction with hydrocephalus fetuses in Sudan, when ultrasound is used to exam fetuses in the second and third trimesters of pregnancy. This prospective cohort study was performed from December 2011 to December 2013, in a group consists of 5000 single gestation pregnant Sudanese women. In all cases, maternal ages were 35 years up to 48 years; mean age of 42.5 years. Pelvic; obstetric ultrasound scanning protocol used should meet the standards established by the American Institute of Ultrasound in Medicine (AIUM) for scanning in the second and third trimesters of pregnancy. Statistical Package for the Social Sciences (SPSS) was used to analyze the results. Diagnosed hydrocephalus cases (0.4%) were found to be associated with other fetal anomalies as aqueduct stenosis (45%), spina bifida (30%), Arnold-Chiari malformation (20%) and Dandy-Walker malformation (5%). The incidence of congenital anomalies and hydrocephalus in Sudanese fetuses showed considerable variation among different regions of Sudan. Hydrocephalus is associated with certain congenital anomalies. In agreement with previous studies, hydrocephalus is predominantly in male rather than female fetuses. The prevalence of fetal anomalies and hydrocephalus are within previously reported ranges.

  11. Economic activity and congenital anomalies: an ecologic study in Argentina. ECLAMC ECOTERAT Group.

    PubMed Central

    Castilla, E E; Campaña, H; Camelo, J S

    2000-01-01

    In this study, we analyze the association between industrial activity and the occurrence of 34 congenital anomalies. We selected 21 counties in Argentina during 1982-1994 and examined a total of 614,796 births in these counties in consecutive series. We used the International Standard Industrial Classification of All Economic Activities (United Nations, 1968) as an indicator of exposure to 80 specific industrial activities. Incidence rate ratios for each congenital anomaly were adjusted by the socioeconomic level of the county according to a census index of social deprivation. For a given exposure/anomaly association to be considered as significant and relevant, the exposure had to be a statistically significant risk for the occurrence of the anomaly and an increase in the birth prevalence rate of the congenital anomaly type involved had to be observed in those counties where the putative causal activity was being performed. Significant associations (p < 0.01) were identified between textile industry and anencephaly, and between the manufacture of engines and turbines and microcephaly. These observations are consistent with previous reports on occupational exposure, and their further investigation by means of case-control studies is recommended. PMID:10706523

  12. Surgical outcomes with 360-degree suture trabeculotomy in poor-prognosis primary congenital glaucoma and glaucoma associated with congenital anomalies or cataract surgery.

    PubMed

    Beck, Allen D; Lynn, Michael J; Crandall, James; Mobin-Uddin, Omar

    2011-02-01

    To evaluate the outcomes of 360-degree suture trabeculotomy in childhood glaucoma with poor prognosis. A nonrandomized, retrospective chart review was performed on pediatric patients (younger than 18 years of age) treated with a 360-degree suture trabeculotomy for glaucoma. The cases were categorized into the following groups: (1) primary congenital glaucoma with birth-onset presentation accompanied by corneal clouding noted at birth, (2) primary congenital glaucoma with onset or presentation after 1 year of age, (3) primary congenital glaucoma with previous failed goniotomy surgery, (4) infantile-onset glaucoma following congenital cataract surgery, and (5) infantile-onset glaucoma with associated ocular/systemic anomalies. A total of 45 eyes of 33 patients were analyzed. The mean preoperative intraocular pressure (IOP) was 34.3±6.7 mm Hg on an average of 1.5 medications. Median age at time of surgery was 7 months. Mean final IOP (median last follow-up or failure, 12 months) was 22.2±7.1 mm Hg on an average of 1.5 medications. The probability of success according to time after surgery was 87% at 6 months, 63% at 1 year, and 58% at 2 years. Kaplan-Meier analysis of Groups 1-4 versus Group 5 failed to demonstrate a statistically significant difference (p=0.13). Of 5 eyes with port wine mark-related glaucoma, 2 had a large (>50%), persistent postoperative hyphema, and concurrent vitreous hemorrhage. Children with a range of ocular pathologies can be successfully treated with 360-degree suture trabeculotomy. Further evaluation of this surgical technique in primary congenital glaucoma and open-angle glaucoma following congenital cataract surgery is warranted. Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

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

    PubMed

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

    2013-01-01

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

  14. Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.

    PubMed

    Yano, S; Oda, K; Watanabe, Y; Watanabe, S; Matsuishi, T; Kojima, K; Abe, T; Kato, H

    1998-08-06

    Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with systemic anomalies. We report on two sisters who were born to a consanguineous couple and had retinitis pigmentosa-like pigmented retinal lesions, alternating exotropia, bilateral cataracts, and anomalous coarse facies characterized by deformed skull with narrow forehead, low anterior hairline, hypertelorism, short philtrum, thin upper lip, and prominent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ventricle; severe mental retardation; tremor; brisk deep tendon reflexes and abnormal behavior; and skeletal abnormalities such as limited extension of elbow and/ or finger joints and talipes equinovalgus. Skin defect and renal anomalies were seen in only one patient. Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, and the disease involving particular multiple systemic anomalies may represent a distinct clinical entity.

  15. Childhood cancer in children with congenital anomalies in Oklahoma, 1997 to 2009.

    PubMed

    Janitz, Amanda E; Neas, Barbara R; Campbell, Janis E; Pate, Anne E; Stoner, Julie A; Magzamen, Sheryl L; Peck, Jennifer D

    2016-07-01

    Data-linkage studies have reported an association between congenital anomalies and childhood cancer. However, few studies have focused on the differences in the effect of congenital anomalies on cancer as a function of attained age. We aimed to examine associations between anomalies and childhood cancer as a function of attained age among children born in Oklahoma. Data were obtained from the Oklahoma State Department of Health from 1997 to 2009 (n = 591,235). We linked Vital Statistics records for singleton deliveries to the Oklahoma Birth Defects Registry and the Oklahoma Central Cancer Registry using name and birth date. To assess the relation between anomalies and childhood cancer, we used Cox regression analysis allowing for a nonproportional hazards for anomalies as a function of age. There were 23,368 (4.0%) children with anomalies and 531 (0.1%) children with cancer. When considering 3-year age intervals, we detected an increased hazard of any childhood cancer in children with anomalies compared with those without anomalies before 1 year of age (hazard ratio, 14.1; 95% confidence interval, 8.3-23.7) and at 3 years of age (hazard ratio, 2.3; 95% confidence interval, 1.6-3.2). The increased hazard declined with increasing time since birth, with the effect diminished by 6 years of age. Our results were consistent with previous studies indicating an increased rate of childhood cancer among children with anomalies at younger ages. Furthermore, our study added a methodological refinement of assessing the effect of anomalies as a function of attained age. Birth Defects Research (Part A) 106:633-642, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. Congenital psoriasis: case report and literature review.

    PubMed

    Lehman, Julia S; Rahil, Anudeep K

    2008-01-01

    While childhood psoriasis is fairly common, congenital psoriasis appears to be rare and has not been well characterized. We present a patient with histologically confirmed congenital psoriasis. By reviewing the literature, we aim to both define this disease and compare it to infantile and childhood psoriasis. Electronic searches found articles reporting patients with biopsy-proven congenital psoriasis. We recorded clinical features, such as family history, anatomic involvement, and disease severity. We compared these data with previous descriptions of infantile and childhood psoriasis. We included nine patients with congenital psoriasis in our analysis. No patient had a first-degree family history of psoriasis. While the face, scalp, chest, and trunk were frequently involved, the buttocks generally were spared. Several patients had persistent disease despite therapy. In this series, congenital psoriasis differed from infantile and childhood psoriasis in several respects. Specifically, congenital psoriasis was associated with a lower prevalence of relevant family history, which could increase over time, and a different pattern of anatomic involvement, which may reflect exposure to age-associated environmental factors. Although several patients with congenital psoriasis had severe disease, this likely represents publication bias. Additional reports of congenital psoriasis with extended follow-up are needed to better characterize this condition.

  17. Sirenomelia: A Rare Case of Foetal Congenital Anomaly

    PubMed Central

    Dharmraj, Meena; Gaur, Sumitra

    2012-01-01

    Sirenomelia, alternatively known as ‘mermaid syndrome’ is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid’. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the findings, relative to the present literature and related etiopathogenesis. PMID:24027732

  18. Oral clefts with associated anomalies: findings in the Hungarian Congenital Abnormality Registry

    PubMed Central

    Sárközi, Andrea; Wyszynski, Diego F; Czeizel, Andrew E

    2005-01-01

    Background Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data of cases with syndromic orofacial clefts from large population-based studies are infrequent. Methods Clinically recognized and notified syndromes and associations including cleft lip with or without cleft palate and other congenital anomalies were selected from the Hungarian Congenital Abnormality Registry (HCAR) between 1973 and 1982 and prevalence rates were calculated. Results Of 3,110 cases reported as having orofacial clefts, 653 had multiple congenital abnormalities. Of these, 60 (9.2%) had a known etiology (monogenic: 25 or 3.8%, chromosomal: 31 or 4.7%, teratogenic: 4 or 0.6%). Seventy-three subjects (11.2%) had schisis in addition to the oral cleft. Skeletal anomalies were the most common malformations among cases with cleft lip with/without cleft palate (CL/P) and cleft palate (CP). Disorders of the central nervous system and cardiovascular malformations were also frequently associated. Conclusion Surveillance systems, such as the HCAR, provide useful information about prevalence rates of congenital anomalies in a population. However, in a field where new syndromes are being discovered and classifications regularly updated, these rates should only be accepted as provisional. PMID:15985166

  19. [Genetics of congenital cardiopathies].

    PubMed

    Moreno García, M; Gómez Rodríguez, M J; Barreiro Miranda, E

    2000-07-01

    Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

  20. Biventricular repair of right atrial isomerism with complex congenital anomalies.

    PubMed

    Kirali, Kaan; Sasmazel, Ahmet; Mataraci, Ilker; Erdem, Hasan; Guzelmeric, Fusun

    2010-01-01

    Biventricular repair is usually difficult to achieve in patients who have right atrial isomerism, which is typically associated with other complex cardiac anomalies. The procedure can be used in patients who have balanced ventricular structures. Herein, we report a successful surgical reconstruction, including biventricular repair, in a 4-year-old boy. The child's right atrial isomerism was associated with double-outlet right ventricle, a large atrial septal defect, a subaortic ventricular septal defect, valvular and infundibular pulmonary stenosis, left persistent superior vena cava, and hemiazygos continuation of an interrupted inferior vena cava. Balanced ventricles enabled biventricular repair, which we consider to be preferable to the Fontan procedure in such circumstances.

  1. Retrospective review of tracheoplasty for congenital tracheal stenosis.

    PubMed

    Wijeweera, O; Ng, S B A

    2011-10-01

    Congenital tracheal stenosis is a rare but life-threatening obstructive airway disease. It usually presents in early infancy and requires surgical intervention. This study is a review of our experience in the management of congenital tracheal stenosis in children at KK Women's and Children's Hospital, Singapore. All children who had undergone tracheoplasty for congenital tracheal stenosis between January 1999 and December 2008 were included. The patients' medical records were retrieved from our database, and the demographic data, comorbidities, clinical presentation and management, surgery performed, postoperative complications, final outcomes and follow-up were reviewed. A total of 11 children aged 12 days to six years underwent surgery for congenital long-segment tracheal stenosis, of which ten (90.9 percent) had associated cardiac and vascular anomalies and nine (81.8 percent) had left pulmonary artery sling predominance. Five (45.4 percent) children had associated bronchopulmonary abnormalities. All the patients underwent slide tracheoplasty with concomitant repair of congenital heart defects. Overall mortality was 45.4 percent (n is 5), including one late mortality due to an unrelated cause. With the exception of one, the follow-up of all patients was complete at this writing. One patient had mild residual tracheal stenosis and another had bilateral bronchomalacia. This is the largest case series of congenital long-segment tracheal stenosis reported in Southeast Asia to date. Slide tracheoplasty with concomitant repair of cardiac lesions is currently the preferred management for long-segment stenosis. Management of such patients remains a challenge for clinicians and the patients' families, and requires a multidisciplinary approach.

  2. Complex congenital heart defect, heterotaxy, imperforate anus, and other congenital anomalies in a 27-week infant: a case study.

    PubMed

    Koerner, Angela

    2014-01-01

    According to multiple researchers and studies, congenital heart disease (CHD) occurs in approximately 4.8-12.0 of 1,000 live births in the general population, and 2.4 per 1,000 cases are serious enough to require surgery or cardiac catheterization in the first year of life.1 Historically, it has been assumed that the earlier the gestational age with CHD, the poorer the outcome; however, with continued improvements in neonatal care, this hypothesis should be looked at more closely. This case illustrates the challenges associated with prematurity, complex cardiac defects, intraventricular hemorrhage (IVH), and other congenital anomalies that increase the risk of infection and/or surgical intervention. It will discuss the hospital course of a twin, born at 27 weeks gestation, who was found to have all of these diagnoses, yet, despite the complexity of his case, he had a predominantly uncomplicated hospital course.

  3. Multiple congenital anomalies: issues for birth defects surveillance.

    PubMed

    Evans, Jane A

    2014-01-01

    Approximately 1 in 200 individuals and 20 percent to 30 percent of those in whom any major structural malformation is found will have 2 or more serious and potentially unrelated birth defects. In addition to the challenges that multiple malformations create for affected persons, their families, and the health care system, appropriate surveillance of such complex patterns can be a concern for birth defects registries. This paper provides examples of how monitoring of multiple anomalies can be beneficial from clinical and public health perspectives; presents a staged approach to documentation of such defects, including suggestions for their coding; describes the types of patterns in which they occur; and discusses some of the unique issues that arise with respect to statistical analysis of multiple versus isolated birth defects.

  4. Congenital adrenal hyperplasia: problems with developmental anomalies of the external genitalia and sex assignment.

    PubMed

    Al-Maghribi, Hussein

    2007-09-01

    A retrospective study was performed on all patients with congenital adrenal hyperplasia (CAH) who were followed up at the King Hussein Medical Center (KHMC), Amman, Jordan, during the period from January 1996 to June 2006. The aim was to evaluate the clinical features, special problems, and corrective interventions for these patients. The records of 73 children (39 were genetic females and 34 were genetic males) with CAH were reviewed in the study. The age of the patients at last follow-up was between five months and 18 years. Diagnostic criteria for CAH were typical clinical features of the illness (salt loss, dehydration, virilization, macrogenitosomia, ambiguous genitalia, and accelerated growth) and typical hormonal abnormalities (decreased serum cortisol and elevated serum 17-hydroxyprogesterone). There were 62 patients with classical presentation; among them, salt-wasting (SW) form was seen in 41 patients (66%). There were 5 patients with the nonclassic form, while 6 others had cryptic presentation. Seven patients (9%) had hypertension, mostly due to salt-retaining CAH. Among the 39 females with CAH, 27 had developed mental anomalies of the external genitalia; 20 of them underwent surgical interventions of their external genitalia. Fourteen genetically female patients were wrongly diagnosed as 'male sex' at birth due to severe virilization. Seven of them were reassigned 'female sex' socially, legally, and surgically; the parents of one of them (a four-year-old girl) wanted the surgical intervention postponed for two to three years. Hysterectomy and gonadectomy were carried out for 6 of the other 7 patients who chose to keep the male gender. Our study indicates that newborns with developmental anomalies of the external genitalia should be diagnosed as early as possible so that medical, psychological, and social complications are minimized. A neonatal screening program for such a disorder can identify infants at risk for the development of life

  5. Multidetector Computed Tomography for Congenital Anomalies of the Aortic Arch: Vascular Rings.

    PubMed

    García-Guereta, Luis; García-Cerro, Estefanía; Bret-Zurita, Montserrat

    2016-07-01

    The development of multidetector computed tomography has triggered a revolution in the study of the aorta and other large vessels and has replaced angiography in the diagnosis of congenital anomalies of the aortic arch, particularly vascular rings. The major advantage of multidetector computed tomography is that it permits clear 3-dimensional assessment of not only vascular structures, but also airway and esophageal compression. The current update aims to summarize the embryonic development of the aortic arch and the developmental anomalies leading to vascular ring formation and to discuss the current diagnostic and therapeutic role of multidetector computed tomography in this field.

  6. Managing tracheal extubation in infants with stridor and congenital neuraxial anomalies

    PubMed Central

    Saigal, Deepti; Ganjoo, Pragati; Sharma, Megha U.; Singh, Daljit

    2016-01-01

    Stridor is a serious complication of congenital neuraxial anomalies, which though, can get completely resolved with early neurosurgical correction of the anomaly. However, stridor relief may or may not be achieved soon after surgery. Persistent postoperative stridor can potentially cause extubation failure that may be difficult to handle in small children. There are no extubation guidelines for difficult pediatric airways as yet, and fewer appropriate airway-assist devices for routine use. Management of an infant with occipital encephalocele, hydrocephalus and bilateral abductor vocal cord palsy, who developed post-extubation respiratory distress due to stridor is discussed, together with the relevant tracheal extubation issues in such cases. PMID:28217159

  7. Congenital duodenal obstruction with preduodenal portal vein and situs inversus totalis: report of two cases and literature review.

    PubMed

    Shukla, Ram Mohan; Mukherjee, Partha Pratik; Mukhopadhyay, B; Mandal, Kartik Chandra

    2013-06-01

    Preduodenal portal vein is a rare congenital anomaly that causes high intestinal obstruction. The authors report two interesting cases of preduodenal portal vein that were diagnosed as having congenital duodenal obstruction. As there is a high potential for surgical risk, this anomaly is of special interest to the surgeon and should be kept in mind. Here, we discuss the clinical presentation, diagnosis and management along with a review of the literature.

  8. Novel cytogenetic and molecular techniques in the diagnosis of congenital anomalies in newborns.

    PubMed

    Szczałuba, Krzysztof; Śmigiel, Robert

    2015-01-01

    Knowledge of what causes developmental disorders, including congenital structural defects/anomalies, in the newborn population, facilitates the choice of further investigations, therapy and rehabilitation, allows the use of appropriate prophylaxis against comorbidities, makes it possible to specify prognosis, as well as provide reliable family counselling (both pre- and postnatal). Attempting to formulate a clinical diagnosis of a specific congenital anomaly syndrome, with or without dysmorphic features, based on history and detailed physical examination, remains crucial for the selection of the right genetic testing. Modern methods of molecular cytogenetics and molecular biology are targeted in nature (microdeletion MLPA, single gene sequencing) or are capable of analyzing the genome as a whole (array CGH, newgeneration sequencing). Especially the latter techniques are now causing a rapid increase of diagnostic efficacy across different age groups, including newborns.

  9. Renal function in congenital anomalies of the kidney and urinary tract.

    PubMed

    Kemper, M J; Müller-Wiefel, D E

    2001-11-01

    Congenital anomalies of the kidneys and urinary tract are a major cause of chronic and end-stage renal failure in children. The molecular mechanisms having been elaborated, there is now growing evidence that kidney function is to a large extent determined genetically at an early stage. Assessment of kidney function is an important tool in clinical medicine and is feasible in utero. Postnatally, determination of absolute glomerular filtration rate and also of split and excretory renal function play an important role in the determination of treatment and prognosis. This is supplemented by other biochemical, molecular and interventional prognostic factors, which are of help in preservation of kidney survival by minimizing modulating factors. If chronic or terminal renal failure ensues in childhood or even in early infancy, however, improved medical care has led to encouraging results, ultimately influencing the motivation in the care of children with congenital anomalies of the kidney and urinary tract.

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

    PubMed

    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.

  11. Relationship of selected prenatal factors to pregnancy outcome and congenital anomalies.

    PubMed

    Qazi, Gulrukh

    2010-01-01

    The aim of this paper is to explore the relationship of various selected prenatal circumstances to pregnancy outcome in particular reference to congenital anomalies. It was a cross-sectional analytical study and conducted at unit 'A' of the Department of Obs/Gyn, Postgraduate Medical Institute, Lady Reading Hospital, Peshawar, from January to December 2009. The analysis included data on all women having pregnancies with adverse outcome and various congenital anomalies during the study period 1st January to 31st December 2009. A hospital-based maternal health data was used from history records and direct interviewing of the patients subject to their availability and information were recorded for all the cases on structured proformae. The data included demographic details, social environment, consanguinity, ovulation induction, drug intake during early pregnancy, exposure to radiation, infection during early pregnancy, complications of pregnancy, prematurity, obstetrical variables, congenital anomalies and materno-foetal morbidity and mortality. Findings at prenatal visits and data regarding prior pregnancies and morbidity among other children are also abstracted from obstetrical and medical charts. In case of the newborn, the neonatal chart abstract has proved to be a more complete source of information on congenital anomalies. The data was entered on SPSS-10 and the analysis included simple proportions and rates. Out of a total of 5,082 deliveries 163 (3.2%) were complicated by various congenital anomalies with prepondrence of neural tube defects notably the hydrocephalous (33.4%) and Anencephaly (29.2%). Most of the mothers were un-booked and uneducated (90%). Eighty-eight (54%) women were in there twenties, thirty (22%) with > or = 35 years of age and only 9%in the teenage group. About 36% of the deliveries in the study population are among primigravida. Four cases (3.1%) had history of exposure to some non-specific radiation due to the locality of there house

  12. Lateral congenital anomalies of the pharyngeal apparatus: part II. anatomy of the abnormal for the surgeon.

    PubMed

    Mirilas, Petros

    2011-09-01

    "Anatomy of the abnormal"-a branch of surgical anatomy-deals with relations of an anomaly to surrounding entities. Here, lateral congenital anomalies of the pharyngeal apparatus are examined; their relations to entities of the neck can be explained embryologically. Location of embryonic pharyngeal arches, clefts, and pouches in the adult is presented and terminology of these anomalies (fistulas, sinuses, cysts) is defined. First "cleft and pouch" anomalies relate with the parotid and facial nerve. Second cleft and pouch anomalies course deeply to second arch structures and superficially to third arch structures. Consequently, they relate with hypoglossal and glossopharyngeal nerves and internal and external carotid arteries. Third cleft and pouch anomalies pass deep to third arch entities and superficial to those of the fourth arch and relate with glossopharyngeal, hypoglossal, superior and recurrent laryngeal nerves, and the internal carotid artery. The complicated course of fourth cleft and pouch anomalies brings them into relationship with glossopharyngeal, hypoglossal, superior and recurrent nerves, internal carotid, aorta, and subclavian arteries. Found superficially are veins (external and anterior jugular, common facial, communicating), nerves (transverse cervical, great auricular, mandibular, cervical branches of facial), and relevant spinal nerves (e.g., accessory). Knowledge of these anatomical relations helps prevent anatomical complications.

  13. Neonatal Surgery for Noncardiac Congenital Anomalies: Neonates at Risk of Brain Injury.

    PubMed

    Stolwijk, Lisanne J; Keunen, Kristin; de Vries, Linda S; Groenendaal, Floris; van der Zee, David C; van Herwaarden, Maud Y A; Lemmers, Petra M A; Benders, Manon J N L

    2017-03-01

    To evaluate the incidence of brain injury after neonatal surgery for noncardiac congenital anomalies using magnetic resonance imaging (MRI). An MRI was obtained in 101 infants at 7 days [range: 1-115] after neonatal surgery for major noncardiac congenital anomalies. Brain injury was assessed using T1, T2, diffusion weighted imaging, and susceptibility-weighted imaging. Thirty-two preterm infants (<37 weeks of gestation) and 69 full-term infants were included. MRI abnormalities were found in 24 (75%) preterm and 40 (58%) full-term infants. Parenchymal lesions were noted in 23 preterm (72%) and 29 full-term infants (42%). These consisted of punctate white matter lesions (n = 45), punctate cerebellar lesions (n = 17), thalamic infarction (n = 5), and periventricular hemorrhagic infarction (n = 4). Nonparenchymal abnormalities were found in 9 (28%) preterm and 26 (38%) full-term infants. These included supra- and infratentorial subdural hemorrhages (n = 30), intraventricular hemorrhage grade II (n = 7), and asymptomatic sinovenous thrombosis (n = 1). A combination of parenchymal lesions was present in 21 infants. Of infants who had an MRI within 10 days after surgery, punctate white matter lesions were visible on diffusion weighted imaging in 22 (61%), suggestive of recent ischemic origin. Type of congenital anomaly and prematurity were most predictive of brain injury. Infants who have neonatal surgery for noncardiac congenital anomalies are at risk of brain injury, potentially accounting for the neurodevelopmental delay frequently observed in this population. Further research is warranted into potential mechanisms of brain injury and its timing of onset. Long-term neurodevelopmental follow-up is needed in this vulnerable population. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Clinical determinants of parents' emotional reactions to the disclosure of a diagnosis of congenital anomaly.

    PubMed

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

    2013-01-01

    To examine parents' emotional reactions (high intensity vs. low intensity) and the intensity of each emotion when a prenatal or postnatal diagnosis of a congenital anomaly is disclosed Cross-sectional study. Two urban Portuguese hospitals. The parents (60 mothers and 50 fathers) of 60 infants prenatally or postnatally diagnosed with a congenital anomaly. One month after the disclosure of the diagnosis, the parents answered questionnaires regarding sociodemographic and clinical variables and their emotional experiences at the disclosure. Gender differences in the parents' emotional reactions were not found, and intracouple congruence was frequent. When there was uncertainty regarding the diagnosis, no prior knowledge about the diagnosis (for fathers only), and no history of pregnancy loss (for mothers only), parents presented significantly more frequently with a pattern of high-intensity negative emotional reactions to the disclosure. Type of congenital anomaly, timing of diagnosis, and parity were not found to be significantly associated with the patterns of emotional reactions, but differences in the intensity of specific emotions were found for all variables. Both parents' emotional experiences should be acknowledged at the disclosure. Clinical variables were found to define the stressful situation (the diagnosis). When the diagnosis was perceived as more threatening (i.e., more unexpected, less controllable, and predictable), parents presented a pattern of high-intensity emotional reactions. © 2013 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses.

  15. Conservative correction of uterine anomalies in cases of congenital and posttraumatic infertility.

    PubMed

    Danezis, J; Soumplis, A; Papathanassiou, Z

    1978-01-01

    Uterine anomalies are due either to primary congenital malformations, or to secondary traumatic lesions of the intrauterine cavity as well as to pathology of the endometrium. The latter two etiologic factors create difficulties in the correct diagnosis of a congenital malformation and despite the convincing hysterosalpingographic findings a false diagnosis of a congenital malformation and despite the convincing hysterosalpingographic findings a false diagnosis is frequent. On the other hand the various degrees of uterine anomalies cannot always convince the gynecologist to undertake a plastic operation where the results for future fertility are doubtful. In our experience the extensive beneficial use of a variety of selected IUDs for the correction of intrauterine lesions also resulted in the correction of the size and shape of the uteri, previously diagnosed as malformed. The preliminary results of treatment in 110 cases of uterine anomalies after the application of a selected IUD combined with the administration of high doses of gestagens, showed an overall satisfactory improvement or complete reconstruction to a normal uterus in 86 (78%) of the cases. Higher fertility rate, better pregnancy outcome, correct diagnosis of the existing malformation, and safer decisions for further correction have also been attributed to the beneficial effects of the above treatment.

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

    PubMed

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

    2012-08-14

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

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

    PubMed Central

    2012-01-01

    Background Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population. Methods We studied associations between residential exposure to paint fumes during the 1st trimester of pregnancy and predefined subgroups of congenital anomalies, using data from the Danish National Birth Cohort (DNBC). During 2001 and 2003, a total of 20 103 pregnant women, enrolled in the DNBC, were interviewed in the 30th week of gestation about the use of paint in their residence during pregnancy. By the end of first trimester, information about smoking habits, alcohol consumption and occupation were collected. Information on congenital anomalies was obtained from national registers. Associations were examined by estimating odds ratios (OR) using logistic regression. Results In total 1404 women (7%) had been exposed to paint fumes during the 1st trimester of pregnancy and 1086 children were diagnosed with congenital anomalies; 73 children with congenital anomalies had been exposed to paint fumes in utero. Exposure to paint fumes seemed positively associated with congenital anomalies of the nervous system (OR 2.19, 95% confidence interval (CI) 0.76 to 6.32), ear, face and neck (OR 2.15, 95% CI 0.84 to 5.55) and the renal system (OR 2.16, 95% CI 1.02 to 4.58) after adjustment for maternal age, smoking, alcohol consumption and occupational solvent exposure. Congenital anomalies in the remaining subgroups were not associated with the exposure. Conclusions Our results suggest that in the general population, exposure to paint fumes during the 1st trimester of pregnancy may increase the risk of some types of congenital anomalies, but the findings need to be confirmed. PMID:22892023

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

    PubMed Central

    2014-01-01

    Background 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. Methods 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. Results 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. Conclusion 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

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

    PubMed Central

    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 I2 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

  20. Congenital anomalies in Canada 2013: a perinatal health surveillance report by the Public Health Agency of Canada's Canadian Perinatal Surveillance System.

    PubMed

    Irvine, B; Luo, W; León, J A

    2015-03-01

    Congenital Anomalies in Canada 2013: A Perinatal Health Surveillance Report is the second national surveillance report from the Public Health Agency of Canada dedicated to congenital anomalies. It provides comprehensive data on congenital anomalies in Canada, focussing on 6 categories of congenital anomalies: Down syndrome, neural tube defects, congenital heart defects, orofacial clefts, limb deficiency defects and gastroschisis. The report presents national-level birth prevalence data and temporal trends, provincial and territorial estimates, and international comparisons. Known risk factors, prevalence-related impacts of prenatal diagnosis and preventative measures are also discussed.

  1. Impact of fetal counseling on outcome of antenatal congenital surgical anomalies.

    PubMed

    Sharma, Shilpa; Bhanot, Ranjana; Deka, Dipika; Bajpai, Minu; Gupta, Devendra K

    2017-02-01

    To analyze the impact of counseling on antenatal congenital surgical anomalies (ACSA). Cases presenting with ACSA for fetal counseling and those presenting in post-natal period following diagnosis of ACSA (PACSA) for surgical opinion were analyzed for spectrum, presentation and outcome. 117 cases including ACSA(68);PACSA(49) were analyzed. Gestational age at diagnosis of ACSA;PACSA was 17-37;17-39 weeks (median 24;32 weeks). Diagnoses in ACSA;PACSA included urological (26;31), neurological (10;5), congenital diaphragmatic hernia (CDH)(5;1), gastrointestinal (5;5), lung and chest anomalies (5;1), intraabdominal cysts (4;1), abdominal wall defects (4;0), tumors (3;3), limb anomaly (1;1), esophageal atresia (1;1), conjoint twins (1;0), hepatomegaly (1;0), and major cardiac anomalies (2;0). Two antenatal interventions were done for ACSA; vesicoamniotic shunt and amnioinfusion for oligohydramnios. 17;24 ACSA;PACSA required early surgical intervention in post-natal period. Nine ACSA underwent medical termination of pregnancy and 4 had intrauterine demise. Nine ACSA babies died including two CDH, one gastroschisis, one duodenal atresia, one conjoint twins, one megacystitis with motility disorder and three posterior urethral valves. All PACSA babies survived. Fetal counseling for CSA portrays true outcome of ACSA with 32.3% (22/68) mortality versus 0% for PACSA due to selection bias. However, fetal counseling ensures optimal perinatal care.

  2. Left-sided Gastroschisis: A Rare Congenital Anomaly

    PubMed Central

    Mandelia, Ankur; Agarwala, Sandeep; Sharma, Nitin; Solanki, Shailesh; Panda, Shashank

    2013-01-01

    In gastroschisis, the defect in the abdominal wall is located almost always to the right of the umbilicus. Left-sided gastroschisis is a very rare entity. A case of left sided gastroschisis has been described here, with review of literature. PMID:24298510

  3. The use of folic acid for the prevention of neural tube defects and other congenital anomalies.

    PubMed

    Wilson, R Douglas; Davies, Gregory; Désilets, Valérie; Reid, Gregory J; Summers, Anne; Wyatt, Philip; Young, David

    2003-11-01

    To provide information regarding the use of folic acid for the prevention of neural tube defects (NTDs) and other congenital anomalies, in order that physicians, midwives, nurses, and other health-care workers can assist in the education of women in the preconception phase of their health care. OPTION: Folic acid supplementation is problematic, since 50% of pregnancies are unplanned and the health status of women may not be optimal. Folic acid supplementation has been proven to decrease or minimize specific birth defects. A systematic review of the literature, including review and peer-reviewed articles, government publications, the previous Society of Obstetricians and Gynaecologists of Canada (SOGC) Policy Statement of March 1993, and statements from the American College of Obstetrics and Gynecology, was used to develop a new clinical practice guideline for the SOGC. Peer-review process within the committee structure. The benefit is reduced lethal and severe morbidity birth defects and the harm is minimal. The personal cost is of vitamin supplementation on a daily basis and eating a healthy diet. 1. Women in the reproductive age group should be advised about the benefits of folic acid supplementation during wellness visits (birth control renewal, Pap testing, yearly examination), especially if pregnancy is contemplated. (III-A) 2. Women should be advised to maintain a healthy nutritional diet, as recommended in Canada's Food Guide to Healthy Eating (good or excellent sources of folic acid: broccoli, spinach, peas, Brussels sprouts, corn, beans, lentils, oranges). (III-A) 3. Women who could become pregnant should be advised to take a multivitamin containing 0.4 mg to 1.0 mg of folic acid daily. (II-1A) 4. Women taking a multivitamin with folic acid supplement should be advised not to take more than 1 daily dose of vitamin supplement, as indicated on the product label. (II-2A) 5. Women in intermediate- to high-risk categories for NTDs (NTD-affected previous

  4. Indications for microsurgical reconstruction of congenital hand anomalies by toe-to-hand transfers.

    PubMed

    Jones, Neil F; Kaplan, Jesse

    2013-12-01

    The indications for microsurgical toe-to-hand transfers in congenital hand surgery have not been defined as clearly as for posttraumatic reconstruction of thumb and finger amputations. The purpose of this study was to develop simple guidelines for referral of children with congenital absent digits for consideration of microsurgical reconstruction with toe-to-hand transfers, based on the morphological or radiographic anatomy of the hand anomaly, not on embryological classifications. From a consecutive series of 204 children referred with congenital absence of the thumb and fingers, 100 toe-to-hand transfers were performed. The indications for microsurgical reconstruction of these children were analyzed retrospectively. Forty-one thumbs were reconstructed in 38 children-15 children with an absent thumb distal to the metacarpal base but with four relatively normal fingers; 12 children with an absent thumb and only one or two digits remaining on the ulnar side of the hand; and 11 children with complete absence of all five digits. Twenty-nine second toes and 12 great toes were transferred to reconstruct congenital absent thumbs. Fifty-nine fingers in 52 children were reconstructed mostly with single second toe transfers-41 children with a thumb but absence of all four fingers and 11 children with absence of all five digits. The morphological or radiographic anatomy of a child's hand with congenital absent digits is a more logical indication for microsurgical reconstruction than any embryological classification. The three most common indications for toe transfers for reconstruction of congenital absent thumbs are (1) absent thumb distal to the carpometacarpal joint with four relatively normal fingers, (2) absent thumb with only one or two fingers remaining on the ulnar border of the hand, and (3) complete absence of the thumb and all four fingers. The two indications for toe transfers for reconstruction of congenital absent fingers are (1) absence of all four fingers but

  5. Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France.

    PubMed Central

    Julian-Reynier, C; Philip, N; Scheiner, C; Aurran, Y; Chabal, F; Maron, A; Gombert, A; Aymé, S

    1994-01-01

    STUDY OBJECTIVE--The aims were (1) to assess whether termination of pregnancy after prenatal screening by ultrasound affected the prevalence of congenital anomalies at birth, and (2) to examine the trend of this pattern over time. DESIGN--This study deals with congenital anomalies, possibly detectable prenatally or at birth, which were classified as isolated and multiple anomalies; chromosomal anomalies were not included. The prevalence rates of congenital anomalies at birth were determined from case registration data in the Marseille district, France, from the registry of congenital malformations (Eurocat no 22), which covers 23,500 births a year. The chi 2 test for homogeneity in proportions was used to test whether the differences in the total prevalence rates were significant over time. SETTING--The population was defined as all children born to parents living in the Marseille district between January 1 1984 and December 31 1990. PATIENTS--Among the 164,509 pregnancy outcomes monitored during the study, 1795 children with a single congenital anomaly and 288 with multiple congenital anomalies detectable at birth were assessed. MEASUREMENTS AND MAIN RESULTS--The percentage of pregnancy terminations was higher in the case of multiple anomalies (16%) than with single ones (7.5%). Leaving aside the lethal birth defects, this percentage became 7.9% in the case of multiple anomalies and 4.3% with isolated ones. A significant increase (p < 0.001) occurred over the seven year study period in the total percentage of terminations because of isolated anomalies but not in that involving multiple ones. The increase observed in the former case was found to be mainly attributable to an increase in the number of terminations of pregnancy undertaken because of anomalies which were either lethal or associated with very low survival rates (p < 0.001). CONCLUSIONS--Termination of pregnancy after prenatal ultrasound examination was found to have a definite impact on the prevalence

  6. Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.

    PubMed

    Emy Dorfman, Luiza; Leite, Júlio César L; Giugliani, Roberto; Riegel, Mariluce

    2015-01-01

    To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. Out of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well-defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. Array-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first-line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

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

    PubMed

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

    2016-10-15

    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.

  8. Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling.

    PubMed

    Szczałuba, Krzysztof; Jakubiuk-Tomaszuk, Anna; Kędzior, Marta; Bernaciak, Joanna; Zdrodowska, Jolanta; Kurzątkowski, Wiesław; Radkowski, Marek; Demkow, Urszula

    2016-01-01

    Identification of submicroscopic chromosomal aberrations, as a cause of structural malformations, is currently performed by MLPA (multiplex ligation-dependent probe amplification) or array CGH (array comparative genomic hybridization) techniques. The aim of this study was the evaluation of diagnostic usefulness of MLPA and array CGH in patients with congenital malformations or abnormalities (at least one major or minor birth defect, including dysmorphism) with or without intellectual disability or developmental delay and the optimization of genetic counseling in the context of the results obtained. The MLPA and array CGH were performed in 91 patients diagnosed with developmental disorders and major or minor congenital anomalies. A total of 49 MLPA tests toward common microdeletion syndromes, 42 MLPA tests for subtelomeric regions of chromosomes, two tests for common aberrations in autism, and five array CGH tests were performed. Eight (9 %) patients were diagnosed with microdeletion MLPA, four (4 %) patients with subtelomeric MLPA, one (1 %) patient with autism MLPA. Further three (3 %) individuals had rearrangements diagnosed by array CGH. Altogether, chromosomal microaberrations were found in 16 patients (17 %). All the MLPA-detected rearrangements were found to be pathogenic, but none detected with array CGH could unequivocally be interpreted as pathogenic. In patients with congenital anomalies, the application of MLPA and array CGH techniques is efficient in detecting syndromic and unique microrearrangements. Consistent pre-MLPA test phenotyping leads to better post-test genetic counseling. Incomplete penetrance and unknown inheritance of detected variants are major issues in clinical interpretation of array CGH data.

  9. Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies.

    PubMed

    Elmann, Solly; Hanson, Sarah A; Bunce, Christopher N; Shinder, Roman

    2015-01-01

    A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors' knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement.

  10. [Updating of the prevalence of congenital anomalies among resident births in the Municipality of Gela (Southern Italy)].

    PubMed

    Bianchi, Fabrizio; Bianca, Sebastiano; Barone, Chiara; Pierini, Anna

    2014-01-01

    to update the prevalence of congenital anomalies in the Municipality of Gela (Southern Italy), in particular to verify whether the previously reported high prevalence of hypospadias was confirmed. study on prevalence at birth of congenital anomalies by retrieving information from multiple sources. in the Municipality of Gela it is localized a site of national interest for environmental remediation (SIN). Data of residents born in the Municipality of Gela in 2003-2008 were recovered from hospital records, local and regional archives, Sicilian registry of congenital malformations database, hospital admissions at medical and surgical hospitals in Catania. For comparison, European (EUROCAT), Tuscany and Emilia-Romagna registries data have been used. congenital anomalies, divided into confirmed anomalies, minor anomalies, uncertain conditions, classified by large groups and specific anomalies. statistically significant excesses emerge with respect to the references for genital anomalies, and for urinary and total anomalies including not-specified diagnoses. For cardiovascular and limb anomalies (including not-specified clubfoot), the excess is significant only in comparison with Italian figures. The prevalence of hypospadias of 46.7/10,000 shows statistically significant excesses compared to European and Italian reference values, of 1.7 and 2.3 times, respectively. retrospective recovery of data produced incompleteness of cases and poor diagnostic definition. The epidemiological picture is more reliable for congenital anomalies less susceptible to termination of pregnancy. The study confirms a high prevalence of hypospadias, estimated between the value observed in the previous twelve-year study and the one reported for the area of Priolo-Augusta-Melilli for the years 1990-1998; and higher than those reported in literature, with sporadic exceptions. The observed data, as well as the documented presence in the environment and in biological fluids of dangerous pollutants

  11. Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013.

    PubMed

    Norwood, Marlena S; Lupo, Philip J; Chow, Eric J; Scheurer, Michael E; Plon, Sharon E; Danysh, Heather E; Spector, Logan G; Carozza, Susan E; Doody, David R; Mueller, Beth A

    2017-01-01

    The presence of a congenital anomaly is associated with increased childhood cancer risk, likely due to large effects of Down syndrome and chromosomal anomalies for leukemia. Less is known about associations with presence of non-chromosomal anomalies. Records of children diagnosed with cancer at <20 years of age during 1984-2013 in Washington State cancer registries were linked to their birth certificates (N = 4,105). A comparison group of children born in the same years was identified. Congenital anomalies were assessed from birth records and diagnosis codes in linked hospital discharge data. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI) for cancer, and for specific cancer types in relation to the presence of any anomaly and specific anomalies. Having any congenital anomaly was associated with an increased risk of childhood cancer (OR: 1.46, 95% CI 1.28-1.65). Non-chromosomal anomalies were also associated with increased childhood cancer risk overall (OR: 1.35; 95% CI: 1.18-1.54), and with increased risk of several cancer types, including neuroblastoma, renal, hepatoblastoma, soft-tissue sarcoma, and germ cell tumors. Increasing number of non-chromosomal anomalies was associated with a stronger risk of childhood cancer (OR for 3+ anomalies: 3.11, 95% CI: 1.54-6.11). Although central nervous system (CNS) anomalies were associated with CNS tumors (OR: 6.05, 95% CI 2.75-13.27), there was no strong evidence of other non-chromosomal anomalies being specifically associated with cancer occurring in the same organ system or anatomic location. Non-chromosomal anomalies increased risk of several cancer types. Additionally, we found that increasing number of non-chromosomal anomalies was associated with a stronger risk of cancer. Pooling similar data from many regions would increase power to identify specific associations in order to inform molecular studies examining possible common developmental pathways in the etiologies of

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

    PubMed

    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.

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

    PubMed

    Lay-Son, Guillermo; Espinoza, Karena; Vial, Cecilia; Rivera, Juan C; Guzmán, María L; Repetto, Gabriela M

    2015-01-01

    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. Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan™ HD Array, Affymetrix, Inc., Santa Clara, CA, USA). Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. 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. 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. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

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

    PubMed

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

    2005-07-01

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

  15. Medicaid pregnancy termination funding and racial disparities in congenital anomaly-related infant deaths.

    PubMed

    Hutcheon, Jennifer A; Bodnar, Lisa M; Simhan, Hyagriv N

    2015-01-01

    To explore whether state restrictions on Medicaid funding for pregnancy termination of anomalous fetuses could be contributing to the black-white disparity in infant death resulting from congenital anomalies. Data on deaths resulting from anomalies were obtained from U.S. vital statistics records (1983-2004) and the Nationwide Inpatient Sample (2003-2007). We conducted an ecological study using Poisson and logistic regression to explore the association between state Medicaid funding for pregnancy terminations of anomalous fetuses and infant death resulting from anomalies by calendar time, race, and individual Medicaid status. Since 1983, a gap in anomaly-related infant death has developed between states without compared with those with Medicaid funding for pregnancy termination (rate ratio in 2004 1.21, 95% confidence interval [CI] 1.18-1.24; crude risks: 146.8 compared with 121.7/100,000). Blacks were significantly more likely than whites to be on Medicaid (60.2% compared with 29.2%) and to live in a state without Medicaid funding for pregnancy termination (65.8% compared with 59.6%). The increased risk of anomaly-related death associated with lack of state Medicaid funding for pregnancy termination was most pronounced among black women on Medicaid (relative risk 1.94, 95% CI 1.52-2.36; crude risks: 245.5 compared with 129.3/100,000). States without Medicaid funding for pregnancy termination of anomalous fetuses have higher rates of infant death resulting from anomalies than those with funding, and this difference is most pronounced among black women on Medicaid. Restrictions on Medicaid funding for termination of anomalous fetuses potentially could be contributing to the black-white disparity in anomaly-related infant death. II.

  16. Congenital heart anomalies in patients with clefts of the lip and/or palate.

    PubMed

    Wyse, R K; Mars, M; al-Mahdawi, S; Russell-Eggitt, I M; Blake, K D

    1990-07-01

    The nature and severity of congenital heart disease in 78 patients who presented with clefts of the lip and/or palate is reported. The prevalence of bilateral cleft lip and palate in patients with heart lesions was much higher than in cleft patients with normal hearts. Cardiac defects were predominantly conotruncal. Tetralogy of Fallot was present in 24 percent of patients; the prevalence of transposition, atrioventricular septal defect, and truncus arteriosus was also disproportionately high. Patients with conotruncal defects had a greater prevalence of either unilateral or bilateral cleft lip and palate. Most patients with congenital heart disease and clefting had additional abnormalities. Anomalies of other systems were found to be present in 87 percent of patients.

  17. Absence of prenatal ultrasound surveillance: Data from the Portuguese congenital anomalies registry.

    PubMed

    Correia, Sandrina; Machado, Ausenda; Braz, Paula; Rodrigues, Ana Paula; Matias-Dias, Carlos

    2016-06-01

    In Portugal, prenatal care guidelines advocate two prenatal ultrasound scans for all pregnant women. Not following this recommendation is considered inadequate prenatal surveillance. The National Registry of Congenital Anomalies (RENAC in Portuguese) is an active population-based registry and an important instrument for the epidemiological surveillance of congenital anomalies (CA) in Portugal. Regarding pregnancies with CA, this study aims to describe the epidemiology of absent prenatal ultrasound scans and factors associated with this inadequate surveillance. A cross-sectional comparative study from 2008 to 2013 was carried out using data from RENAC. Associations of nonuptake of prenatal ultrasound screening with socio-demographic health behaviors and obstetric history data were evaluated using multiple logistic regression. Potential confounders were investigated and included if they changed the crude odds ratio estimate by at least 10% after adjustment by the Mantel-Haenszel method. The statistical significance level was set at 5%. Overall, 6090 notifications of congenital anomalies were reported to RENAC, and 2% of the pregnant women reported no prenatal ultrasound screening surveillance. These women were on average aged 30.0 years, and 52.8% had no professional occupation. The odds of not performing an ultrasound scan during their pregnancy increased 2.47 times with lack of professional activity, 4.67 times in non-Caucasian women, and decreased 46% for any previous miscarriage. For pregnant women who did not receive an ultrasound screening examination during pregnancy, the strongest statistically associated factors were professional occupation, ethnicity, and number of miscarriages in previous gestations. Birth Defects Research (Part A) 106:489-493, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. Treatment of calculi in kidneys with congenital anomalies: an assessment of the efficacy of lithotripsy.

    PubMed

    Al-Tawheed, Adel R; Al-Awadi, Khaleel A; Kehinde, Elijah O; Abdul-Halim, Hamdy; Hanafi, Akram M; Ali, Yusuf

    2006-10-01

    We studied the effectiveness of extracorporeal shock wave lithotripsy (ESWL) in the treatment of stones in kidneys with congenital anomalies to determine factors that may affect the results. Patients found to have renal calculi in kidneys with different types of congenital anomalies were treated using ESWL. All patients were investigated by intravenous urography (IVU) to confirm the diagnosis. J stents were inserted prior to therapy in renal units with calculi exceeding 1.5 cm in diameter. Complications encountered and factors affecting success using this treatment modality were analysed. Twenty-five patients (18 males, 7 females) were studied between August 1988 and July 2005. There were nine patients with horseshoe kidneys, eight with ectopic kidneys, three with malrotated kidneys, two with duplex renal system, and one patient each with polycystic kidneys and hypoplastic kidney. The IVU showed 31 isolated calyceal or renal pelvic stones with mean stone burden of 1.44cc. All 25 patients were treated by lithotripsy. Twenty-four (77.4%) renal units (in 19 patients) were completely cleared of stones, 2 (6.5%) renal units (2 patients) were partially cleared of calculi and the procedures failed in 5 (16.1%) renal units (4 patients). Out of five renal units in which the procedures failed, open surgery was performed in three renal units and percutaneous nephrolithotomy (PCNL) was performed in two. None of the 25 patients developed any major complications. No significant adverse changes in renal function tests were observed at 3-month follow-up. The stone-free rate was influenced and reduced by stone size and location in the pelvi-calyceal system. Calculi in kidneys with congenital anomalies may be treated successfully by ESWL as a first-line therapy in the majority of patients. With position modifications, localization of stones may be facilitated and disintegrated. The outcome in patients so treated does not differ significantly from that in those with normal kidneys.

  19. Primary-care management of patients with congenital anomalies of the coronary arteries.

    PubMed

    Boris, Jeffrey R; Brothers, Julie A

    2015-12-01

    Congenital anomalies of the coronary arteries, although uncommon, have the potential to cause serious myocardial damage, ischaemic cardiomyopathy, and sudden cardiac death. This article summarises aspects of care for these patients in the outpatient setting, including clinical history and physical examination findings, ancillary testing, decision-making regarding the need for surgical intervention, and recommendations for physical activity. Although there are limited data regarding some of these recommendations, it is hoped that these can be used as an initial benchmark against which further data will lead to a more evidence-based approach.

  20. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

    PubMed

    Vivante, Asaf; Kohl, Stefan; Hwang, Daw-Yang; Dworschak, Gabriel C; Hildebrandt, Friedhelm

    2014-04-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of structural malformations that result from defects in the morphogenesis of the kidney and/or urinary tract. These anomalies account for about 40-50 % of children with chronic kidney disease worldwide. Knowledge from genetically modified mouse models suggests that single gene mutations in renal developmental genes may lead to CAKUT in humans. However, until recently, only a handful of CAKUT-causing genes were reported, most of them in familial syndromic cases. Recent findings suggest that CAKUT may arise from mutations in a multitude of different single gene causes. We focus here on single-gene causes of CAKUT and their developmental origin. Currently, more than 20 monogenic CAKUT-causing genes have been identified. High-throughput sequencing techniques make it likely that additional CAKUT-causing genes will be identified in the near future.

  1. Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.

    PubMed

    Lee, Seung Jae; Han, Dong Kyun; Cho, Hwa Jin; Cho, Young Kuk; Ma, Jae Sook

    2012-08-01

    The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.

  2. Home birth of infants with congenital anomalies: a case study and ethical analysis of careproviders' obligations.

    PubMed

    Jankowski, Jane; Burcher, Paul

    2015-01-01

    This article presents the case of a mother who is planning a home birth with a midwife with the shared knowledge that the fetus would have congenital anomalies of unknown severity. We discuss the right of women to choose home birth, the caregivers' duty to the infant, and the careproviders' dilemma about how to respond to this request. The ethical duties of concerned careproviders are explored and reframed as professional obligations to the mother, infant, and their profession at large. Recommendations are offered based on this case in order to clarify the considerations surrounding not only home birth of a fetus with anticipated anomalies, but also to address the ethical obligations of caregivers who must navigate the unique tension between respecting the mother's wishes and the duty of the careproviders to deliver optimal care. Copyright 2015 The Journal of Clinical Ethics. All rights reserved.

  3. Three-dimensional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy.

    PubMed

    Toda, T; Watanabe, T; Matsumura, K; Sunada, Y; Yamada, H; Nakano, I; Mannen, T; Kanazawa, I; Shimizu, T

    1995-05-01

    Fukuyama-type congenital muscular dystrophy (FCMD), the second most common childhood muscular dystrophy in Japan, is characterized by the association with severe brain anomalies such as pachygyria and focal interhemispheric fusion. Conventional imaging techniques such as X-ray CT scan and MRI are ineffective for visualization of these brain surface anomalies. Here we investigated the efficacy of three-dimensional (3-D) reconstruction of brain surface MR images for the detection of brain anomalies in FCMD patients. 3-D brain surface MR images clearly visualized anomalies of cerebral gyrus such as pachygyria, as well as focal interhemispheric fusion. In addition, reconstructed horizontal images visualized structural derangement such as abnormal protrusion of white matter into gray matter. MR image abnormalities were confirmed by autopsy in 1 patient. These abnormalities were never observed in Duchenne muscular dystrophy (DMD) patients. Our results indicate the efficacy of the present method for the differential diagnosis between FCMD and DMD with severe mental retardation, which is essential for the genetic study to identify the causative gene of FCMD.

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

    PubMed

    Papagiannopoulos, Dimitri; Gong, Edward

    2017-03-01

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

  5. Congenital anomalies: treatment options based on amniotic fluid-derived stem cells.

    PubMed

    Kunisaki, Shaun M

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon's perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed.

  6. Molecular Detection of Human Cytomegalovirus (HCMV) Among Infants with Congenital Anomalies in Khartoum State, Sudan

    PubMed Central

    Ebrahim, Maha G.; Ali, Aisha S.; Mustafa, Mohamed O.; Musa, Dalal F.; El Hussein, Abdel Rahim M.; Elkhidir, Isam M.; Enan, Khalid A.

    2015-01-01

    Human Cytomegalovirus (HCMV) infection still represents the most common potentially serious viral complication in humans and is a major cause of congenital anomalies in infants. This study is aimed to detect HCMV in infants with congenital anomalies. Study subjects consisted of infants born with neural tube defect, hydrocephalus and microcephaly. Fifty serum specimens (20 males, 30 females) were collected from different hospitals in Khartoum State. The sera were investigated for cytomegalovirus specific immunoglobin M (IgM) antibodies using enzyme-linked immunosorbent assay (ELISA), and for Cytomegalovirus DNA using polymerase chain reaction (PCR). Out of the 50 sera tested, one patient’s (2%) sample showed HCMV IgM, but with no detectable DNA, other 4(8.2 %) sera were positive for HCMV DNA but with no detectable IgM. Various diagnostic techniques should be considered to evaluate HCMV disease and routine screening for HCMV should be introduced for pregnant women in this setting. It is vital to initiate further research work with many samples from different area to assess prevalence and characterize HCMV and evaluate its maternal health implications. PMID:26862356

  7. Pictorial review of coronary anomalies in Tetralogy of Fallot.

    PubMed

    Kapur, Sangita; Aeron, Gunjan; Vojta, Christopher N

    2015-01-01

    Tetralogy of Fallot (TOF) classically consists of four characteristic features-right ventricular outflow obstruction, right ventricular hypertrophy, ventricular septal defect and an overriding aorta. In addition there are multiple other associated cardiac anomalies, including coronary artery anomalies. In this review, the role of CT angiography and the spectrum of coronary anomalies will be discussed along with importance of such anomalies in the context of surgery.

  8. Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact on prognosis.

    PubMed

    Fauza, D O; Wilson, J M

    1994-08-01

    The general concept of the association of congenital diaphragmatic hernia (CDH) with other anomalies has been well described. This study is aimed at assessing the distribution of the associated anomalies (AA) by organ system, their influence on prognosis, and the practical signs that should prompt a diagnostic search. One hundred and sixty-six high-risk patients with CDH (symptomatic within the first 6 hours of life) were treated in this institution in the past decade. Sixty-five patients (39.2%) were found to have one or more AA, and 101 had isolated CDH. Of patients with anomalies, cardiac (excluding patent foramen ovale and patent ductus arteriosus) was the most frequent type of AA (63%). Hypoplastic heart syndrome was the most common defect. Many patients had multiple AA. For purposes of analysis, the patients were divided into three groups: isolated CDH, cardiac anomalies, and all other anomalies. The groups were compared with respect to several common clinical and laboratory variables, as well as survival. The frequency and timing of antenatal diagnosis were also noted. The analysis led to the following conclusions. (1) AA are present in more than one third of high-risk patients with CDH; in this group, cardiac lesions predominate. (2) High-risk CDH infants with AA have significantly lower APGAR scores and a lower BPDPO2 (best postductal PO2 before ECMO or surgery) than those with isolated CDH. This is even more evident in the group with cardiac AA. In such patients, a careful search for an undetected AA, especially cardiac, is warranted.(ABSTRACT TRUNCATED AT 250 WORDS)

  9. Prenatal exposure to tetrachloroethylene-contaminated drinking water and the risk of congenital anomalies: a retrospective cohort study.

    PubMed

    Aschengrau, Ann; Weinberg, Janice M; Janulewicz, Patricia A; Gallagher, Lisa G; Winter, Michael R; Vieira, Veronica M; Webster, Thomas F; Ozonoff, David M

    2009-09-24

    Prior animal and human studies of prenatal exposure to solvents including tetrachloroethylene (PCE) have shown increases in the risk of certain congenital anomalies among exposed offspring. This retrospective cohort study examined whether PCE contamination of public drinking water supplies in Massachusetts influenced the occurrence of congenital anomalies among children whose mothers were exposed around the time of conception. The study included 1,658 children whose mothers were exposed to PCE-contaminated drinking water and a comparable group of 2,999 children of unexposed mothers. Mothers completed a self-administered questionnaire to gather information on all of their prior births, including the presence of anomalies, residential histories and confounding variables. PCE exposure was estimated using EPANET water distribution system modeling software that incorporated a fate and transport model. Children whose mothers had high exposure levels around the time of conception had an increased risk of congenital anomalies. The adjusted odds ratio of all anomalies combined among children with prenatal exposure in the uppermost quartile was 1.5 (95% CI: 0.9, 2.5). No meaningful increases in the risk were seen for lower exposure levels. Increases were also observed in the risk of neural tube defects (OR: 3.5, 95% CI: 0.8, 14.0) and oral clefts (OR 3.2, 95% CI: 0.7, 15.0) among offspring with any prenatal exposure. The results of this study suggest that the risk of certain congenital anomalies is increased among the offspring of women who were exposed to PCE-contaminated drinking water around the time of conception. Because these results are limited by the small number of children with congenital anomalies that were based on maternal reports, a follow-up investigation should be conducted with a larger number of affected children who are identified by independent records.

  10. Prenatal exposure to tetrachloroethylene-contaminated drinking water and the risk of congenital anomalies: a retrospective cohort study

    PubMed Central

    2009-01-01

    Background Prior animal and human studies of prenatal exposure to solvents including tetrachloroethylene (PCE) have shown increases in the risk of certain congenital anomalies among exposed offspring. Objectives This retrospective cohort study examined whether PCE contamination of public drinking water supplies in Massachusetts influenced the occurrence of congenital anomalies among children whose mothers were exposed around the time of conception. Methods The study included 1,658 children whose mothers were exposed to PCE-contaminated drinking water and a comparable group of 2,999 children of unexposed mothers. Mothers completed a self-administered questionnaire to gather information on all of their prior births, including the presence of anomalies, residential histories and confounding variables. PCE exposure was estimated using EPANET water distribution system modeling software that incorporated a fate and transport model. Results Children whose mothers had high exposure levels around the time of conception had an increased risk of congenital anomalies. The adjusted odds ratio of all anomalies combined among children with prenatal exposure in the uppermost quartile was 1.5 (95% CI: 0.9, 2.5). No meaningful increases in the risk were seen for lower exposure levels. Increases were also observed in the risk of neural tube defects (OR: 3.5, 95% CI: 0.8, 14.0) and oral clefts (OR 3.2, 95% CI: 0.7, 15.0) among offspring with any prenatal exposure. Conclusion The results of this study suggest that the risk of certain congenital anomalies is increased among the offspring of women who were exposed to PCE-contaminated drinking water around the time of conception. Because these results are limited by the small number of children with congenital anomalies that were based on maternal reports, a follow-up investigation should be conducted with a larger number of affected children who are identified by independent records. PMID:19778411

  11. Individual variation in organ histogenesis as a causative factor in the developmental origins of health and disease: unnoticed congenital anomalies?

    PubMed

    Otani, Hiroki; Udagawa, Jun; Hatta, Toshihisa; Kagohashi, Yukiko; Hashimoto, Ryuju; Matsumoto, Akihiro; Satow, Fumio; Nimura, Masayuki

    2010-12-01

    Morphological studies of congenital anomalies have mainly focused on abnormal shape (i.e. malformation) and thus on disturbed organogenesis. However, in regard to postnatal functions of organs that develop through branching mechanisms, organ size is another important morphological feature. These organs consist of a large number of structural and functional units, such as nephrons in the kidney, and the total number of these units, that is approximately proportional to the organ size, has been shown to vary widely among individuals. Organ-specific cells are differentiated and organized to form structural units and realize organ-specific functions during the histogenetic period (i.e. from mid-gestation to the early postnatal period). The total number of units is attained at the end of histogenesis and determines the total functional capacity, including the functional reserve of the organ, and thus may be related to predispositions to postnatal organ-based diseases, because the functional reserve decreases during the course of life and eventually become short of the minimum requirement of each organ. Therefore, it may be hypothesized that a smaller number of units of organs at the end of histogenesis is one of the predisposing factors for postnatal diseases (i.e. a form of unnoticed but late-manifested congenital anomalies), in this era of extended longevity. However, the mechanisms that control the total number of units in each organ during histogenesis and the possible relationship among the numbers of units in different organs remain unknown. Here, we review our trials based on the above hypothesis in order to (1) mathematically analyze the morphometric data of the different organs in fetuses to elucidate relationship among developing organs, (2) analyze the developing neuro-immuno-endocrine network as a series of mechanisms to systemically correlate the histogenesis of multiple organs, and (3) examine the maternal environment, including dietary fat, as a factor to

  12. Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi children.

    PubMed

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

    2006-03-01

    To explore the role of and report on 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 skull 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-month-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

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

    PubMed

    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.

  14. Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

    PubMed

    Gérard, M; Morin, G; Bourillon, A; Colson, C; Mathieu, S; Rabier, D; Billette de Villemeur, T; Ogier de Baulny, H; Benoist, J F

    2015-03-01

    The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations of the HCFC1 gene explain the majority of clinically and biologically compatible cblC patients without MMACHC mutations (OMIM 309541). We report a family with two maternal half-brothers with multiple congenital anomalies and HCFC1 gene mutation in the second Kelch domain. Both presented with dysmorphic features (flat profile, cleft lip for one), increased nuchal translucency, prenatal onset microcephaly and hypospadias. Additionally to early onset intractable epilepsy and profound neurocognitive impairment, this familial observation suggests that HCFC1 gene should be considered in boys with midline malformations, even without proven cobalamin C deficiency. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  15. [Congenital cardiac anomalies (pentalogy of Fallot) in a two year old ram with brachygnathia inferior].

    PubMed

    Pielmeier, Ricarda; Engelke, Elisabeth; Legler, Marko; Haist, Verena; Hopster-Iversen, Charlotte; Distl, Ottmar

    2013-01-01

    In a nearly two-year-old ram, descending from a breeding trial to investigate the effects of shortness of the lower jaw (brachygnathia inferior), a congenital cardiac anomaly was observed. At the age often months the affected animal, a cross breed of Cameroon Sheep and East Friesian Milk Sheep, showed exercise-induced respiratory distress for the first time. Auscultation revealed a loud systolic heart murmur (grade 5) on both sides of the thorax, most prominent over the left third intercostal space at shoulder height. Postmortem examination of the ram's heart showed a pentalogy of Fallot, consisting of a pulmonic stenosis, a ventricular septal defect, an overriding aorta, a right ventricular hypertrophy and a patent foramen ovale. A genetic defect has to be considered as a possible reason.

  16. Early Developmental Assessment of Children with Major Non-Cardiac Congenital Anomalies Predicts Development at the Age of 5 Years

    ERIC Educational Resources Information Center

    Mazer, Petra; Gischler, Saskia J.; van der Cammen-van Zijp, Monique H. M.; Tibboel, Dick; Bax, Nicolaas M. A.; Ijsselstijn, Hanneke; van Dijk, Monique; Duivenvoorden, Hugo J.

    2010-01-01

    Aim: The aim of this study was to evaluate cognitive and motor development in children with major congenital anomalies and the predictability of development at age 5 years. Method: A prospective, longitudinal follow-up study was undertaken. The Dutch version of the Bayley Scales of Infant Development--Mental Developmental Index (MDI) and…

  17. Early Developmental Assessment of Children with Major Non-Cardiac Congenital Anomalies Predicts Development at the Age of 5 Years

    ERIC Educational Resources Information Center

    Mazer, Petra; Gischler, Saskia J.; van der Cammen-van Zijp, Monique H. M.; Tibboel, Dick; Bax, Nicolaas M. A.; Ijsselstijn, Hanneke; van Dijk, Monique; Duivenvoorden, Hugo J.

    2010-01-01

    Aim: The aim of this study was to evaluate cognitive and motor development in children with major congenital anomalies and the predictability of development at age 5 years. Method: A prospective, longitudinal follow-up study was undertaken. The Dutch version of the Bayley Scales of Infant Development--Mental Developmental Index (MDI) and…

  18. The Association between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort

    ERIC Educational Resources Information Center

    Timonen-Soivio, Laura; Sourander, Andre; Malm, Heli; Hinkka-Yli-Salomäki, Susanna; Gissler, Mika; Brown, Alan; Vanhala, Raija

    2015-01-01

    The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987-2000 and a total of four controls per…

  19. The Association between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort

    ERIC Educational Resources Information Center

    Timonen-Soivio, Laura; Sourander, Andre; Malm, Heli; Hinkka-Yli-Salomäki, Susanna; Gissler, Mika; Brown, Alan; Vanhala, Raija

    2015-01-01

    The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987-2000 and a total of four controls per…

  20. Training Performance in Diagnosis of Congenital Uterine Anomalies With 3-Dimensional Sonography: A Learning Curve Cumulative Summation Analysis.

    PubMed

    Pascual, M Angela; Alcazar, Juan Luís; Graupera, Betlem; Rodriguez, Ignacio; Guerriero, Stefano; Mallafre, Anna; de Lorenzo, Cristina; Hereter, Lourdes

    2016-12-01

    We evaluated learning curve cumulative summation (CUSUM) of 3-dimensional (3D) sonography for diagnosis of congenital uterine anomalies and the deviations of the level of trainees' performance at the control-stage CUSUM. First-year (R1), second-year (R2), and third-year (R3) residents in obstetrics and gynecology received a training program to learn how to analyze 3D sonographic volumes and to classify congenital uterine anomalies. Each trainee worked on 155 3D sonographic volumes from preselected patients. Their results were evaluated by learning curve CUSUM and standard CUSUM. The time for each volume analysis was calculated for the expert examiner and the trainees. Trainees R1, R2, and R3 reached competence at the 85th, 58th, and 40th evaluations, respectively, with success rates of 80%, 81%, and 85%, and kept the process under control with error levels of less than 4.5% until the end of the test. The trainees significantly reduced the average time of the evaluation per volume (P < .001). Learning curve CUSUM provided quantitative indicators of the learning evolution of 3D sonography for diagnosis of congenital uterine anomalies by obstetrics and gynecology residents. The training received by the residents was adequate for diagnosis of congenital uterine anomalies using 3D sonography. © 2016 by the American Institute of Ultrasound in Medicine.

  1. Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013

    PubMed Central

    Norwood, Marlena S.; Chow, Eric J.; Scheurer, Michael E.; Plon, Sharon E.; Danysh, Heather E.; Spector, Logan G.; Carozza, Susan E.; Doody, David R.; Mueller, Beth A.

    2017-01-01

    Background The presence of a congenital anomaly is associated with increased childhood cancer risk, likely due to large effects of Down syndrome and chromosomal anomalies for leukemia. Less is known about associations with presence of non-chromosomal anomalies. Methods Records of children diagnosed with cancer at <20 years of age during 1984–2013 in Washington State cancer registries were linked to their birth certificates (N = 4,105). A comparison group of children born in the same years was identified. Congenital anomalies were assessed from birth records and diagnosis codes in linked hospital discharge data. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI) for cancer, and for specific cancer types in relation to the presence of any anomaly and specific anomalies. Results Having any congenital anomaly was associated with an increased risk of childhood cancer (OR: 1.46, 95% CI 1.28–1.65). Non-chromosomal anomalies were also associated with increased childhood cancer risk overall (OR: 1.35; 95% CI: 1.18–1.54), and with increased risk of several cancer types, including neuroblastoma, renal, hepatoblastoma, soft-tissue sarcoma, and germ cell tumors. Increasing number of non-chromosomal anomalies was associated with a stronger risk of childhood cancer (OR for 3+ anomalies: 3.11, 95% CI: 1.54–6.11). Although central nervous system (CNS) anomalies were associated with CNS tumors (OR: 6.05, 95% CI 2.75–13.27), there was no strong evidence of other non-chromosomal anomalies being specifically associated with cancer occurring in the same organ system or anatomic location. Conclusions Non-chromosomal anomalies increased risk of several cancer types. Additionally, we found that increasing number of non-chromosomal anomalies was associated with a stronger risk of cancer. Pooling similar data from many regions would increase power to identify specific associations in order to inform molecular studies examining possible

  2. Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study.

    PubMed

    Sheridan, Eamonn; Wright, John; Small, Neil; Corry, Peter C; Oddie, Sam; Whibley, Catherine; Petherick, Emily S; Malik, Teena; Pawson, Nicole; McKinney, Patricia A; Parslow, Roger C

    2013-10-19

    Congenital anomalies are a leading cause of infant death and disability and their incidence varies between ethnic groups in the UK. Rates of infant death are highest in children of Pakistani origin, and congenital anomalies are the most common cause of death in children younger than 12 in this ethnic group. We investigated the incidence of congenital anomalies in a large multiethnic birth cohort to identify the causes of the excess of congenital anomalies in this community. We obtained questionnaire data from the mothers of children with one or more anomalies from the Born in Bradford study, a prospective birth cohort study of 13,776 babies and their families in which recruitment was undertaken between 2007 and 2011. Details of anomalies were prospectively reported to the study and we cross checked these details against medical records. We linked data for anomalies to maternal questionnaire and clinical data gathered as part of the Born in Bradford study. We calculated univariate and multivariate risk ratios (RRs) with 95% CIs for various maternal risk factors. Of 11,396 babies for whom questionnaire data were available, 386 (3%) had a congenital anomaly. Rates for congenital anomaly were 305·74 per 10,000 livebirths, compared with a national rate of 165·90 per 10,000. The risk was greater for mothers of Pakistani origin than for those of white British origin (univariate RR 1·96, 95% CI 1·56-2·46). Overall, 2013 (18%) babies were the offspring of first-cousin unions. These babies were mainly of Pakistani origin--1922 (37%) of 5127 babies of Pakistani origin had parents in first-cousin unions. Consanguinity was associated with a doubling of risk for congenital anomaly (multivariate RR 2·19, 95% CI 1·67-2·85); we noted no association with increasing deprivation. 31% of all anomalies in children of Pakistani origin could be attributed to consanguinity. We noted a similar increase in risk for mothers of white British origin older than 34 years (multivariate RR

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

    PubMed

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

    2014-12-01

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

  4. Unilateral giant coloboma of the upper eyelid associated with other congenital anomalies (33 years follow-up of surgical repair).

    PubMed

    Scassellati-Sforzolini, G; Scassellati-Sforzolini, B

    2003-10-01

    To describe a case of congenital unilateral giant coloboma and its successful surgical repair with 33 years of follow-up. A 6-year-old boy presented with a congenital unilateral giant coloboma of the right upper eyelid associated with madarosis of the eyebrows, microphthalmos, dystopia of the hair, and coloboma of the apex of the nose. The patient underwent surgical repair of the multiple anomalies in different steps. A multiple-step, two-layer technique for the reconstruction of the right upper eyelid was performed in a 6-year-old boy with congenital unilateral giant coloboma associated with multiple ocular and facial anomalies. After 33 years of follow-up, the cosmetic results are excellent, although it has not been possible to preserve the visual function of the right eye, which had to be enucleated.

  5. Echocardiographic Evaluation of Asymptomatic Parental and Sibling Cardiovascular Anomalies Associated With Congenital Left Ventricular Outflow Tract Lesions

    PubMed Central

    Lewin, Mark B.; McBride, Kim L.; Pignatelli, Ricardo; Fernbach, Susan; Combes, Ana; Menesses, Andres; Lam, Wilbur; Bezold, Louis I.; Kaplan, Norman; Towbin, Jeffrey A.; Belmont, John W.

    2006-01-01

    Objective Left ventricular outflow tract obstructive (LVOTO) malformations are a leading cause of infant mortality from birth defects. Genetic mechanisms are likely, and there may be a higher rate of asymptomatic LVOTO anomalies in relatives of affected children. This study sought to define the incidence of cardiac anomalies in first-degree relatives of children with congenital aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS). Methods A total of 113 probands with a nonsyndromic LVOTO malformation of AVS (n = 25), BAV (n = 3), CoA (n = 52), HLHS (n = 30), and aortic hypoplasia with mitral valve atresia (n = 2) were ascertained through chart review or enrolled at the time of diagnosis. Echocardiography was performed on 282 asymptomatic first-degree relatives. Results Four studies had poor acoustic windows, leaving 278 studies for analysis. BAV were found in 13 (4.68%) first-degree relatives. The relative risk of BAV in the relatives was 5.05 (95% confidence interval: 2.2–11.7), and the broad sense heritability was 0.49, based on a general population frequency of 0.9%. BAV was more common in multiplex families compared with sporadic cases. An additional 32 relatives had anomalies of the aorta, aortic valve, left ventricle, or mitral valve. Conclusions The presence of an LVOTO lesion greatly increases the risk of identifying BAV in a parent or sibling, providing additional support for a complex genetic cause. The parents and siblings of affected patients should be screened by echocardiography as the presence of an asymptomatic BAV may carry a significant long-term health risk. PMID:15342840

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

    PubMed

    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.

  7. Medical management of congenital anomalies of the kidney and urinary tract.

    PubMed

    Hiraoka, Masahiro

    2003-10-01

    Renal damage in children has been found to be more congenital in origin than was previously thought. Congenital anomalies of the kidney and urinary tract (CAKUT) involve renal dysplasia, renal hypoplasia, urinary tract obstruction and vesicoureteral reflux. CAKUT are sometimes bilateral and different types often coexist. Depending on their types and severity, children with CAKUT often have varying degrees of a reduced number of nephrons at birth. CAKUTare now the leading cause of renal failure in children. Children with renal dysplasia or obstructive uropathy may have abnormal renal tubules, and tend to lose essential water and sodium in urine. This can lead to poor body growth unless they are supplemented with water and sodium. Children with severe ureteric reflux often develop urinary infection and renal scarring. Renal scarring can further increase the risk of renal failure in children who already have other CAKUTand fewer nephrons than normal. Hypertension and proteinuria may develop in children with renal dysplasia and further aggravate renal function unless they are treated. Recent advances in the understanding and management of CAKUT make it possible for children with CAKUT to grow normally, have fewer complications such as urinary infection, have longer renal survival, and survive even with end-stage renal diseases through renal replacement therapy.

  8. Treatment of congenital anomalies in a missionary hospital in Bangladesh: results of 17 paediatric surgical missions.

    PubMed

    Del Rossi, Carmine; Fontechiari, Simona; Casolari, Emilio; Fainardi, Valentina; Caravaggi, Francesca; Lombardi, Laura

    2008-12-01

    We report 17 years of experience in a missionary hospital with decreased facilities in Bangladesh. Our interest was directed at children with congenital malformations since they live in a society where the exclusion of abnormal children is common. A better treatment for these children offers them a better future. Bangladesh is among the most densely populated countries in the world: its population ranges from 142 to 159 million, and it is one of the poorest nations in the world. From 1991 to 2008 our Italian pediatric surgical team performed 17 5 weeks missions in a missionary hospital in Khulna, Bangladesh, during the months of January and February. A total of 1556 patients underwent surgery, mostly for severe congenital anomalies. The infection rates were very low: 2-3%; the mortality rate was 0.4% for all the operations. Good pre-operative preparation and assistance, assurance of cyclical follow-up and a trained surgical team allowed the successful treatment of complex malformations in a missionary hospital with modest services.

  9. Changing concepts in urological management of the congenital anomalies of kidney and urinary tract, CAKUT.

    PubMed

    Nakai, Hideo; Asanuma, Hiroshi; Shishido, Seiichiro; Kitahara, Satoshi; Yasuda, Kosaku

    2003-10-01

    Recent advancement in ultrasonographic evaluation has prompted early detection and diagnosis of congenital anomalies in the kidney and urinary tract (CAKUT) in the asymptomatic phase. Consequently, early surgical intervention has become possible in the asymptomatic phase for the purpose of controlling manifestations early, thereby avoiding renal functional deterioration. However, some lesions detected by ultrasonography have been shown to often resolve or disappear without intervention. Thus, it has become more important to identify and understand the natural history of CAKUT. For the precise evaluation of the results of surgical intervention, one must understand the maturational process of renal function during infancy. Without considering this process, we cannot differentiate the renal significance of the surgical management from the natural course of CAKUT. Recent advancement in the field of radioisotopic studies has also made a major contribution to the more precise assessment of renal function. Recent progress in the understanding of the pathophysiology and the natural history of CAKUT has helped rationalize its treatment and management. Improvement in the surgical techniques and tools, together with improvements in pediatric anesthesiology, have made an appreciably positive impact on the outcome. Herein, we present the emerging concepts in the urological management of CAKUT, specifically, multicystic dysplastic kidney, vesicoureteral reflux, congenital hydronephrosis, ectopic ureters and ureteroceles.

  10. Epidemiology of Congenital Upper Limb Anomalies in a Midwest United States Population: An Assessment Using the OMT Classification

    PubMed Central

    Goldfarb, Charles A.; Wall, Lindley B.; Bohn, Deborah C.; Moen, Patrick; Van Heest, Ann E.

    2014-01-01

    Purpose To examine the relative presentation frequency of children with upper limb congenital anomalies at 3 Midwestern referral centers using the Oberg, Manske, and Tonkin (OMT) classification and to assess the utility of this new classification system. Methods 641 individuals with 653 congenital upper extremity anomalies were identified at 3 hospitals in 2 large metropolitan areas during a 1-year interval. Patients were identified prospectively and the specific upper extremity anomaly and any associated syndromes were confirmed using medical records and radiographs. We applied the OMT classification that categorizes anomalies using a dysmorphology outline as malformations, dysplasias, deformations, and syndromes, and assessed its utility and ease of use. Results There were 480 extremities (74%) with a limb malformation including 184 involving the entire limb. Arthrogryposis was the most common of these (53 extremities). Anomalies affecting only the hand plate accounted for 62% (296) of the malformations. Of these, radial polydactyly (15%) was the most common specific anomaly, followed by symbrachydactyly (13%) and cleft hand (11%). Dysplasias were noted in 86 extremities; 55 of these were multiple hereditary exostoses. There were 87 extremities with deformations and 58 of these were trigger digits. A total of 98 children had a syndrome or association. Constriction ring sequence was most common. The OMT was straightforward to use and most anomalies could be easily assigned. There were a few conditions, such as Madelung deformity and symbrachydactyly, that would benefit from clarification on how to best classify them. Conclusions Malformations were the most common congenital anomalies in the 653 upper extremities evaluated over a 1-year period at 3 institutions. We were able to classify all individuals using the OMT classification system. PMID:25534840

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

    PubMed

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

    2017-07-29

    Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. Among 84,218 liveborn singletons (1997-2002) from the Danish National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO2) and noise from road traffic (Lden) burden during fetal life was modeled. Outcome and covariate data were derived from registries, hospital records and questionnaires. Odds ratios (ORs) for eleven major anomaly groups associated with road traffic pollution during first trimester were estimated using logistic regression with generalized estimating equation (GEE) approach. Most of the associations tested did not suggest increased risks. A 10-µg/m(3) increase in NO2 exposure during first trimester was associated with an adjusted ORs of 1.22 (95% confidence interval: 0.98-1.52) for ear, face and neck anomalies; 1.14 0.98-1.33) for urinary anomalies. A 10-dB increase in road traffic noise was also associated with these subgroups of anomalies as well as with an increased OR for orofacial cleft anomalies (1.17, 0.94-1.47). Inverse associations for several both air pollution and noise were observed for atrial septal defects (0.85, 0.68-1.04 and 0.81, 0.65-0.99, respectively). Residential road traffic exposure to noise or air pollution during pregnancy did not seem to pose a risk for development of congenital anomalies. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Prevalence of congenital dental anomalies in the primary dentition in Taiwan.

    PubMed

    Chen, Yi-Horng; Cheng, Nai-Chia; Wang, Yi-Bing; Yang, Chin-Yuh

    2010-01-01

    The purpose of this study was to investigate the prevalence of congenital anomolies in the primary dentition in preschool Taiwanese children compared to Caucasion populations. The study group comprised 2,611 children (1,442 boys ond 1,169 girls) between 2 and 6 years-old in the primary dentition phase using a random sampling technique. The presence of hypodontia, hyperdontia, and double teeth (fusion ond gemination) were recorded ond analyzed using Fisher's exact test. The prevalence of hypodontia was approximately 2%. Unilaterol missing teeth were more frequently observed than bilateral missing teeth. The primary mandibular right lateral incisor was the most frequently missing tooth. The prevalence af hyperdontia was less than 1%. All of the supernumerary teeth were located in the primary maxillary incisor area. The prevalence of double teeth was approximately 3%. All double teeth were located in the anterior region, and most of them were found in the mandibular lateral incisor and canine area. There were no differences in the prevalence of anomalies between the sexes. The prevalence of hypodontia and double teeth, but not hyperdontia, was significantly higher in Taiwanese children vs Caucasian children. Early detection of primary dental anomalies may help prevent oral disease in children.

  13. Birth weight and congenital anomalies following poisonous mushroom intoxication during pregnancy.

    PubMed

    Tímár, L; Czeizel, A E

    1997-01-01

    A series of 22 women who suffered from mushroom poisoning while pregnant have been identified among adults receiving treatment between 1960 and 1993 in a specialist clinic in Budapest, Hungary. In most cases, the poisonings were attributed to Amanita phalloides, verna, and related species. Of these, 20 went to term, and data were collected on gestational age, birth weight, and both major and minor congenital anomalies. Mean birth weight (but not gestational age) was lower than in the control series, suggesting that maternal poisoning may have led to intrauterine growth retardation. Two children were identified with major abnormalities (one of whom had fetal alcohol syndrome related to alcohol abuse by the mother). The prevalences of both major and minor anomalies were similar to the prevalence in the matched control group and to the rate in a more recent control series examined according to the same protocols. However, the statistical power to detect teratogenic effects is limited, especially as only five of the mothers suffered the poisoning episode during the first trimester.

  14. Epidemiology of congenital coronary artery anomalies: a coronary arteriography study on a central European population.

    PubMed

    Kardos, A; Babai, L; Rudas, L; Gaál, T; Horváth, T; Tálosi, L; Tóth, K; Sárváry, L; Szász, K

    1997-11-01

    The anatomical patterns and frequency of occurrence of congenital coronary anomalies (CCA) in a Central European cohort has not yet been studied. The angiographic data of 7,694 consecutive patients undergoing coronary arteriography at the Albert Szent-Györgyi Medical University, Szeged, Hungary, from 1984 to 1994 were analyzed. CCA were found in 103 patients (1.34% incidence). Ninety-eight of them (95.2%) had anomalies of origin and distribution, and five (4.8%) had coronary artery fistulae. The incidence was the highest for the separate origin of left descending artery and left circumflex from the left sinus of Valsalva (52.42%). Anomalous origin of the left circumflex coronary artery from the right coronary was 8.7% while from the right sinus of Valsalva 18.4%. CCA, which may be associated with potentially serious events, such as ectopic coronary origin from the opposite aortic sinus (1.9%) and single coronary arteries (3.88%), were not frequent. The incidence of CCA in the Central European cohort under study was similar to that of the largest North American study. The anatomic classification presented can be useful from both clinical and surgical standpoints.

  15. Interactions between cytokines, congenital anomalies of kidney and urinary tract and chronic kidney disease.

    PubMed

    Simões e Silva, Ana Cristina; Valério, Flávia Cordeiro; Vasconcelos, Mariana Affonso; Miranda, Débora Marques; Oliveira, Eduardo Araújo

    2013-01-01

    Fetal hydronephrosis is the most common anomaly detected on antenatal ultrasound, affecting 1-5% of pregnancies. Postnatal investigation has the major aim in detecting infants with severe urinary tract obstruction and clinically significant urinary tract anomalies among the heterogeneous universe of patients. Congenital uropathies are frequent causes of pediatric chronic kidney disease (CKD). Imaging techniques clearly contribute to this purpose; however, sometimes, these exams are invasive, very expensive, and not sufficient to precisely define the best approach as well as the prognosis. Recently, biomarkers have become a focus of clinical research as potentially useful diagnostic tools in pediatric urological diseases. In this regard, recent studies suggest a role for cytokines and chemokines in the pathophysiology of CAKUT and for the progression to CKD. Some authors proposed that the evaluation of these inflammatory mediators might help the management of postnatal uropathies and the detection of patients with high risk to developed chronic kidney disease. Therefore, the aim of this paper is to revise general aspects of cytokines and the link between cytokines, CAKUT, and CKD by including experimental and clinical evidence.

  16. Interactions between Cytokines, Congenital Anomalies of Kidney and Urinary Tract and Chronic Kidney Disease

    PubMed Central

    Simões e Silva, Ana Cristina; Valério, Flávia Cordeiro; Vasconcelos, Mariana Affonso; Miranda, Débora Marques; Oliveira, Eduardo Araújo

    2013-01-01

    Fetal hydronephrosis is the most common anomaly detected on antenatal ultrasound, affecting 1–5% of pregnancies. Postnatal investigation has the major aim in detecting infants with severe urinary tract obstruction and clinically significant urinary tract anomalies among the heterogeneous universe of patients. Congenital uropathies are frequent causes of pediatric chronic kidney disease (CKD). Imaging techniques clearly contribute to this purpose; however, sometimes, these exams are invasive, very expensive, and not sufficient to precisely define the best approach as well as the prognosis. Recently, biomarkers have become a focus of clinical research as potentially useful diagnostic tools in pediatric urological diseases. In this regard, recent studies suggest a role for cytokines and chemokines in the pathophysiology of CAKUT and for the progression to CKD. Some authors proposed that the evaluation of these inflammatory mediators might help the management of postnatal uropathies and the detection of patients with high risk to developed chronic kidney disease. Therefore, the aim of this paper is to revise general aspects of cytokines and the link between cytokines, CAKUT, and CKD by including experimental and clinical evidence. PMID:24066006

  17. Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases

    PubMed Central

    Komáromy, András M.; Rowlan, Jessica S.; La Croix, Noelle C.; Mangan, Brendan G.

    2011-01-01

    Objective To describe the clinical phenotype and genetics of equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies. Animals studied Five presumably unrelated ponies. Procedures The ponies were examined under field conditions in their barn by slit lamp biomicroscopy, indirect ophthalmoscopy, and applanation tonometry. Blood was collected and genomic DNA extracted for MCOA genotyping using the PMEL17ex11 marker. Results One pony solely presented with temporal ciliary body cysts, suggestive of the less severe Cyst phenotype of MCOA; the animal was heterozygous at the MCOA locus. Multiple bilateral anterior segment anomalies were identified in four ponies, consistent with the more severe MCOA phenotype characterized by cornea globosa, iris hypoplasia, encircling granula iridica along the pupillary ruff, and cataracts. These animals were homozygous for the mutant MCOA allele. Four of the ponies had a silver dapple or chocolate coat color with white or flaxen manes and tails. Silver dappling was masked by the palomino coloring of a 5th pony that was homozygous at the MCOA locus. Conclusions The MCOA syndrome can be seen in ponies. The results of both clinical evaluation and genotyping resembled the previously described MCOA of both Rocky Mountain and Kentucky Mountain Saddle horses. PMID:21929608

  18. Copy-number variation associated with congenital anomalies of the kidney and urinary tract.

    PubMed

    Caruana, Georgina; Wong, Milagros N; Walker, Amanda; Heloury, Yves; Webb, Nathalie; Johnstone, Lilian; James, Paul A; Burgess, Trent; Bertram, John F

    2015-03-01

    The most common cause of end-stage renal disease in children can be attributed to congenital anomalies of the kidney and urinary tract (CAKUT). Despite this high incidence of disease, the genetic mutations responsible for the majority of CAKUT cases remain unknown. To identify novel genomic regions associated with CAKUT, we screened 178 children presenting with the entire spectrum of structural anomalies associated with CAKUT for submicroscopic chromosomal imbalances (deletions or duplications) using single-nucleotide polymorphism (SNP) microarrays. Copy-number variation (CNV) was detected in 10.1 % (18/178) of the patients; in 6.2 % of the total cohort, novel duplications or deletions of unknown significance were identified, and the remaining 3.9 % harboured CNV of known pathogenicity. CNVs were inherited in 90 % (9/10) of the families tested. In this cohort, patients diagnosed with multicystic dysplastic kidney (30 %) and posterior urethral valves (24 %) had a higher incidence of CNV. The genes contained in the altered genomic regions represent novel candidates for CAKUT. This study has demonstrated that a significant proportion of patients with CAKUT harbour submicroscopic chromosomal imbalances, warranting screening in clinics for CNV.

  19. Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007.

    PubMed

    Boyle, B; McConkey, R; Garne, E; Loane, M; Addor, M C; Bakker, M K; Boyd, P A; Gatt, M; Greenlees, R; Haeusler, M; Klungsøyr, K; Latos-Bielenska, A; Lelong, N; McDonnell, R; Métneki, J; Mullaney, C; Nelen, V; O'Mahony, M; Pierini, A; Rankin, J; Rissmann, A; Tucker, D; Wellesley, D; Dolk, H

    2013-05-01

    To assess the public health consequences of the rise in multiple births with respect to congenital anomalies. Descriptive epidemiological analysis of data from population-based congenital anomaly registries. Fourteen European countries. A total of 5.4 million births 1984-2007, of which 3% were multiple births. Cases of congenital anomaly included live births, fetal deaths from 20 weeks of gestation and terminations of pregnancy for fetal anomaly. Prevalence rates per 10,000 births and relative risk of congenital anomaly in multiple versus singleton births (1984-2007); proportion prenatally diagnosed, proportion by pregnancy outcome (2000-07). Proportion of pairs where both co-twins were cases. Prevalence of congenital anomalies from multiple births increased from 5.9 (1984-87) to 10.7 per 10,000 births (2004-07). Relative risk of nonchromosomal anomaly in multiple births was 1.35 (95% CI 1.31-1.39), increasing over time, and of chromosomal anomalies was 0.72 (95% CI 0.65-0.80), decreasing over time. In 11.4% of affected twin pairs both babies had congenital anomalies (2000-07). The prenatal diagnosis rate was similar for multiple and singleton pregnancies. Cases from multiple pregnancies were less likely to be terminations of pregnancy for fetal anomaly, odds ratio 0.41 (95% CI 0.35-0.48) and more likely to be stillbirths and neonatal deaths. The increase in babies who are both from a multiple pregnancy and affected by a congenital anomaly has implications for prenatal and postnatal service provision. The contribution of assisted reproductive technologies to the increase in risk needs further research. The deficit of chromosomal anomalies among multiple births has relevance for prenatal risk counselling. © 2013 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2013 RCOG.

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

    PubMed

    Thomeer, Henricus; Kunst, Henricus; Verbist, Berit; Cremers, Cor

    2012-07-01

    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. Retrospective chart study. Tertiary referral center. A tertiary referral center study with a total of 14 patients with congenital minor ear anomalies as part of a consecutive series (n = 89) who underwent exploratory tympanotomies (15 ears). Audiometric results. In 8 of 15 ears, ossicular reconstruction was attempted. In the short term (1 mo), there was a serviceable hearing outcome (air-bone gap closure to within 25 dB) in 4 ears. However, the long-term results showed deterioration because of an increased air-bone gap in all but 1 ear. No facial nerve lesion was observed postoperatively. Congenital dysplasia or aplasia of the oval and/or round window is an uncommon congenital minor ear anomaly. Classical microsurgical opportunities are rare in this group of anomalies. Newer options for hearing rehabilitation, such as the osseointegrated passive bone conduction devices, have become viable alternatives for conventional air conduction hearing devices. In the near future, upcoming active bone conduction devices might become the most preferred surgical option. In cases in which the facial nerve is only partially overlying the oval window, a type of malleostapedotomy procedure might result in a serviceable postoperative hearing level.

  1. A Review of Vascular Anomalies: Genetics and Common Syndromes

    PubMed Central

    Killion, Elizabeth; Mohan, Kriti; Lee, Edward I.

    2014-01-01

    Vascular tumors and malformations are unique in that affected cells exhibit disrupted angiogenesis. The current treatment options often yield suboptimal results. New insight into the genetics and molecular basis of vascular anomalies may pave the way for potential development of targeted therapy. The authors review the genetic and molecular basis of vascular anomalies and common associated syndromes. PMID:25045331

  2. Epidemiology and structure of congenital anomalies of the newborns in the region of Novi Sad (Vojvodina, Serbia) in 1996 and 2006.

    PubMed

    Ristivojević, Andjelka; Djokić, Petra Lukić; Katanić, Dragan; Dobanovacki, Dušanka; Privrodski, Jadranka Jovanović

    2016-05-01

    According to the World Health Organization (WHO) definition, congenital anomalies are all disorders of the organs or tissues, regardless of whether they are visible at birth or manifest in life, and are registered in the International Classification of Diseases. The aim of this study was to compare the incidence and structure of prenatally detected and clinically manifested congenital anomalies in the newborns in the region of Novi Sad (Province of Vojvodina, Serbia) in the two distant years (1996 and 2006). This retrospective cohort study included all the children born at the Clinic for Gynecology and Obstetrics (Clinical Center of Vojvodina) in Novi Sad during 1996 and 2006. The incidence and the structure of congenital anomalies were analyzed. During 1996 there were 6,099 births and major congenital anomalies were found in 215 infants, representing 3.5%. In 2006 there were 6,628 births and major congenital anomalies were noted in 201 newborns, which is 3%. During 1996 there were more children with anomalies of musculoskeletal system, urogenital tract, with anomalies of the central nervous system and chromosomal abnormalities. During the year 2006 there were more children with cardiovascular anomalies, followed by urogenital anomalies, with significant decline in musculoskeletal anomalies. The distribution of the newborns with major congenital anomalies, regarding perinatal outcome, showed the difference between the studied years. In 2006 the increasing number of children required further investigation and treatment. There is no national registry of congenital anomalies in Serbia so the aim of this study was to enlight this topic. In the span of ten years, covering the period of the NATO campaign in Novi Sad and Serbia, the frequency of major congenital anomalies in the newborns was not increased. The most frequent anomalies observed during both years implied the musculosketelal, cardiovascular, urogenital and central nervous system. In the year 2006 there was a

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

    PubMed Central

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

    2014-01-01

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

  4. [Post-traumatic torticollis in a schoolchild: fracture, congenital anomaly or age-appropriate radiological findings of the atlas?].

    PubMed

    Burkhardt, M; Garcia, P; Fries, P; Heinzmann, J; Pohlemann, T; Pizanis, A

    2010-03-01

    We describe the case of a 6-year-old girl with post-traumatic torticollis after falling on her head. The suspected fractures of the dens axis and/or atlas were ruled out after performing CT and MRI examinations as well as dynamic fluoroscopy. Radiological findings showed no further instability but there was a congenital non-fusion of the posterior arch and an age-appropriate non-fused anterior arch of the atlas. In addition to discoligamental injuries and fractures, congenital anomalies and normal variants of the immature anatomy of the cervical spine should also be considered in the diagnosis of the pediatric cervical spine after trauma.

  5. Experimental congenital hydrocephalus. A review with special consideration of hydrocephalus produced by zinc deficiency.

    PubMed

    Adeloye, A; Warkany, J

    1976-01-01

    A review was made of experimental methods available to produce congenital hydrocephalus by teratogenic methods. Radiation, infections, trypan blue, hypervitaminosis A, salicylates and nutritional deficiencies were considered. In the course of prenatal zinc deficiency experiments, congenital hydrocephalus was frequently encountered and histologic sections were made of many representative specimens. Details of the findings are described, among them various types of aqueduct stenosis or obileration. Although these anomalies suggest that occlusion of the aqueduct is the cause of the enlargement of the ventricular system it was noted that there was also ventricular dilatation caudal to the stenotic point of the aqueduct. Hydrocephalus without aqueductal stenosis has also been observed in experimental animals. It seems possible that some cases of congenital hydrocephalus attributed to aqueductal stenosis are examples of hydrocephalus with secondary block of the aqueduct.

  6. Trimethoprim-sulfonamide use during the first trimester of pregnancy and the risk of congenital anomalies.

    PubMed

    Hansen, Craig; Andrade, Susan E; Freiman, Heather; Dublin, Sascha; Haffenreffer, Katie; Cooper, William O; Cheetham, T Craig; Toh, Sengwee; Li, De-Kun; Raebel, Marsha A; Kuntz, Jennifer L; Perrin, Nancy; Rosales, A Gabriela; Carter, Shelley; Pawloski, Pamala A; Maloney, Elizabeth M; Graham, David J; Sahin, Leyla; Scott, Pamela E; Yap, John; Davis, Robert

    2016-02-01

    Sulfonamide antibacterials are widely used in pregnancy, but evidence about their safety is mixed. The objective of this study was to assess the association between first-trimester sulfonamide exposure and risk of specific congenital malformations. Mother-infant pairs were selected from a cohort of 1.2 million live-born deliveries (2001-2008) at 11 US health plans comprising the Medication Exposure in Pregnancy Risk Evaluation Program. Mothers with first-trimester trimethoprim-sulfonamide (TMP-SUL) exposures were randomly matched 1:1 to (i) a primary comparison group (mothers exposed to penicillins and/or cephalosporins) and (ii) a secondary comparison group (mothers with no dispensing of an antibacterial, antiprotozoal, or antimalarial medication during the same time period). The outcomes were cardiovascular abnormalities, cleft palate/lip, clubfoot, and urinary tract abnormalities. We first identified 7615 infants in the TMP-SUL exposure group, of which 7595 (99%) were exposed to a combination of TMP-SUL and the remaining 1% to sulfonamides alone. After matching (1:1) to the comparator groups and only including those with complete data on covariates, there were 20 064 (n = 6688 per group) in the primary analyses. Overall, cardiovascular defects (1.52%) were the most common and cleft lip/palate (0.10%) the least common that were evaluated. Compared with penicillin/cephalosporin exposure, and no antibacterial exposure, TMP-SUL exposure was not associated with statistically significant elevated risks for cardiovascular, cleft lip/palate, clubfoot, or urinary system defects. First-trimester TMP-SUL exposure was not associated with a higher risk of the congenital anomalies studied, compared with exposure to penicillins and/or cephalosporins, or no exposure to antibacterials. Copyright © 2015 John Wiley & Sons, Ltd.

  7. Anomalies.

    ERIC Educational Resources Information Center

    Online-Offline, 1999

    1999-01-01

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

  8. Anomalies.

    ERIC Educational Resources Information Center

    Online-Offline, 1999

    1999-01-01

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

  9. The urological evaluation and management of patients with congenital lower urinary tract anomalies prior to renal transplantation.

    PubMed

    Marshall, F F; Smolev, J K; Spees, E K; Jeffs, R D; Burdick, J F

    1982-06-01

    Previously, patients with chronic renal failure and major congenital anomalies of the lower urinary tract (often with urinary diversion) were thought to be poor candidates for renal transplantation. Pre-transplant evaluation and possible urinary reconstruction are essential in these patients to achieve successful renal transplantation. Ten patients, including 7 adults, presented with congenital anomalies of the lower urinary tract that were responsible for renal failure. Percutaneous suprapubic cystostomy aided in the assessment of bladder function. Undiagnosed posterior urethral valves were found in 2 adults. Patients with exstrophy, neurogenic bladder or a contracted bladder (with augmentation cystoplasty) had urinary drainage into the bladder at the time of renal transplantation. Sometimes an imperfect bladder can be used for urinary drainage with transplantation but, otherwise, intestinal conduits are still a viable alternative.

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

    PubMed Central

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

    2010-01-01

    Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%–20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (∼3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages. PMID:20466091

  11. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.

    PubMed

    Hou, Wen-Chien; Chen, Chih-Ping; Hwang, Kwei-Shuai; Chen, Ying-Chieh; Lai, Yu-Ju; Tien, Chau-Yang; Su, Her-Young

    2014-12-01

    We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion. Copyright © 2014. Published by Elsevier B.V.

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

    PubMed

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

    2017-01-01

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.

  13. [Ultrasound and color Doppler applications in nephrology. The normal kidney: anatomy, vessels and congenital anomalies].

    PubMed

    Meola, Mario; Petrucci, Ilaria; Giovannini, Lisa; Samoni, Sara; Dellafiore, Carolina

    2012-01-01

    Gray-scale ultrasound is the diagnostic technique of choice in patients with suspected or known renal disease. Knowledge of the normal and abnormal sonographic morphology of the kidney and urinary tract is essential for a successful diagnosis. Conventional sonography must always be complemented by Doppler sampling of the principal arterial and venous vessels. B-mode scanning is performed with the patient in supine, prone or side position. The kidney can be imaged by the anterior, lateral or posterior approach using coronal, transverse and oblique scanning planes. Morphological parameters that must be evaluated are the coronal diameter, the parenchymal thickness and echogenicity, the structure and state of the urinary tract, and the presence of congenital anomalies that may mimic a pseudomass. The main renal artery and the hilar-intraparenchymal branches of the arterial and venous vessels should be accurately evaluated using color Doppler. Measurement of intraparenchymal resistance indices (IP, IR) provides an indirect and quantitative parameter of the stiffness and eutrophic or dystrophic remodeling of the intrarenal microvasculature. These parameters differ depending on age, diabetic and hypertensive disease, chronic renal glomerular disease, and interstitial, vascular and obstructive nephropathy.

  14. HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.

    PubMed

    Nakayama, Makiko; Nozu, Kandai; Goto, Yuki; Kamei, Koichi; Ito, Shuichi; Sato, Hidenori; Emi, Mitsuru; Nakanishi, Koichi; Tsuchiya, Shigeru; Iijima, Kazumoto

    2010-06-01

    Hepatocyte nuclear factor 1beta (HNF1beta) abnormalities have been recognized to cause congenital anomalies of the kidney and urinary tract (CAKUT), predominantly affecting bilateral renal malformations. To further understand the spectrum of HNF1beta related phenotypes, we performed HNF1B gene mutation and deletion analyses in Japanese patients with renal hypodysplasia (n = 31), unilateral multicystic dysplastic kidney (MCDK; n = 14) and others (n = 5). We identified HNF1B alterations in 5 out of 50 patients (10%). De novo heterozygous complete deletions of HNF1B were found in 3 patients with unilateral MCDK. Two of the patients showed contralateral hypodysplasia, whereas the other patient showed a radiologically normal contralateral kidney with normal renal function. Copy number variation analyses showed 1.4 Mb microdeletions involving the whole HNF1B gene with breakpoints in flanking segmental duplications. We also identified 1 novel truncated mutation (1007insC) and another missense mutation (226G>T) in patients with bilateral hypodysplasia. HNF1B alterations leading to haploinsufficiency affect a diverse spectrum of CAKUT. The existence of a patient with unilateral MCDK with normal renal function might provide genetic insight into the etiology of these substantial populations of only unilateral MCDK. The recurrent microdeletions encompassing HNF1B could have a significant impact on the mechanism of HNF1B deletions.

  15. The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

    PubMed Central

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

    2017-01-01

    Despite their clinical significance, characterization of balanced chromosomal abnormalities (BCAs) has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and revealed complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. This study proposes that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements, and provides insight into novel pathogenic mechanisms such as altered regulation due to changes in chromosome topology. PMID:27841880

  16. Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract

    PubMed Central

    Uy, Natalie; Reidy, Kimberly

    2015-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects and the leading cause of end-stage renal disease in children. There is a wide spectrum of renal abnormalities, from mild hydronephrosis to more severe cases, such as bilateral renal dysplasia. The etiology of the majority of cases of CAKUT remains unknown, but there is increasing evidence that genomic imbalance contributes to the pathogenesis of CAKUT. Advances in human and mouse genetics have contributed to increased understanding of the pathophysiology of CAKUT. Mutations in genes involved in both transcription factors and signal transduction pathways involved in renal development are associated with CAKUT. Large cohort studies suggest that copy number variants, genomic, or de novo mutations may explain up to one-third of all cases of CAKUT. One of the major challenges to the use of genetic information in the clinical setting remains the lack of strict genotype–phenotype correlation. However, identifying genetic causes of CAKUT may lead to improved diagnosis of extrarenal complications. With the advent of decreasing costs for whole genome and exome sequencing, future studies focused on genotype–phenotype correlations, gene modifiers, and animal models of gene mutations will be needed to translate genetic advances into improved clinical care. PMID:27617142

  17. Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.

    PubMed

    Yaplito-Lee, J; Pitt, J; Meijer, J; Zoetekouw, L; Meinsma, R; van Kuilenburg, A B P

    2008-02-01

    Beta-ureidopropionase deficiency (McKusick 606673) is an autosomal recessive condition caused by mutations in the UPB1 gene. To date, five patients have been reported, including one putative case detected through newborn screening. Clinical presentation includes neurological and developmental problems. Here, we report another case of beta-ureidopropionase deficiency who presented with congenital anomalies of the urogenital and colorectal systems and with normal neurodevelopmental milestones. Analysis of a urine sample, because of the suspicion of renal stones on ultrasound, showed strongly elevated levels of the characteristic metabolites, N-carbamyl-beta-amino acids. Subsequent analysis of UPB1 identified a novel mutation 209 G>C (R70P) in exon 2 and a previously reported splice receptor mutation IVS1-2A>G. Expression studies of the R70P mutant enzyme showed that the mutant enzyme did not possess any residual activity. Long-term follow-up is required to determine the clinical significance of the beta-ureidopropionase deficiency in our patient.

  18. Prenatal counseling for congenital anomaly tests: parental preferences and perceptions of midwife performance.

    PubMed

    Martin, L; Van Dulmen, S; Spelten, E; De Jonge, A; De Cock, P; Hutton, E

    2013-04-01

    Evidence-based instruments to evaluate the preferences and experiences of future parents regarding prenatal counseling for congenital anomaly tests are currently lacking. We developed the quality of care through clients' eyes prenatal questionnaire (QUOTE(prenatal) ), a client-centered instrument, and assessed its components. Furthermore, the QUOTE(prenatal) was used to provide insight into (1) clients' previsit preferences and (2) clients' postvisit experience, that is, perceived care provider performance regarding the counseling they received. In the questionnaire survey, a principal component analysis was used to gain insight into the underlying components of the questionnaire. Regression analysis was performed to examine differences between groups. In 17 Dutch midwifery practices, 941 pregnant women and their partners (response rate 79%) completed the 59-item QUOTE(prenatal) previsit and postvisit, measuring preferences and perceived performances, respectively. A principal component analysis revealed three counseling components: client-midwife relation, health education and decision-making support. Reponses showed that, previsit, most clients consider the client-midwife relationship and health education to be (very) important. One third of the clients consider decision-making support to be (very) important. Nulliparae had higher preferences for health education and decision-making support than multiparae. Clients perceive that their midwives perform well in building the client-midwife relationship and in giving health education. Improvement is needed in decision-making support. © 2013 John Wiley & Sons, Ltd.

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

    SciTech Connect

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

    2007-09-15

    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.

  20. Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

    PubMed Central

    2012-01-01

    Background Array comparative genomic hybridization (CGH) has been repeatedly shown to be a successful tool for the identification of genomic variations in a clinical population. During the last decade, the implementation of array CGH has resulted in the identification of new causative submicroscopic chromosome imbalances and copy number variations (CNVs) in neuropsychiatric (neurobehavioral) diseases. Currently, array-CGH-based technologies have become an integral part of molecular diagnosis and research in individuals with neuropsychiatric disorders and children with intellectual disability (mental retardation) and congenital anomalies. Here, we introduce the Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies analyzed by BAC array CGH and a novel bioinformatic strategy. Results Among 54 individuals highly selected according to clinical criteria and molecular and cytogenetic data (from 2426 patients evaluated cytogenetically and molecularly between November 2007 and May 2012), chromosomal imbalances were detected in 26 individuals (48%). In two patients (4%), a previously undescribed condition was observed. The latter has been designated as meiotic (constitutional) genomic instability resulted in multiple submicroscopic rearrangements (including CNVs). Using bioinformatic strategy, we were able to identify clinically relevant CNVs in 15 individuals (28%). Selected cases were confirmed by molecular cytogenetic and molecular genetic methods. Eight out of 26 chromosomal imbalances (31%) have not been previously reported. Among them, three cases were co-occurrence of subtle chromosome 9 and 21 deletions. Conclusions We conducted an array CGH study of Russian patients suffering from intellectual disability, autism, epilepsy and congenital anomalies. In total, phenotypic manifestations of clinically relevant genomic variations were found to result from genomic rearrangements affecting 1247 disease-causing and pathway

  1. Spectrum of renal pathology in adult patients with congenital renal anomalies-a series from a tertiary cancer center.

    PubMed

    Dhillon, Jasreman; Mohanty, Sambit K; Kim, Tim; Sexton, Wade J; Powsang, Julio; Spiess, Philippe E

    2014-02-01

    Congenital renal anomalies (CRAs) detected in adults include horseshoe kidney (HK), crossed renal ectopia, and malrotation. Congenital renal anomalies are rare, and renal lesions associated with CRA are rarer. Thirteen patients (11 men and 2 women) were referred to our center with renal masses in the context of CRAs, which included HK (10 cases), crossed renal ectopia (2 cases), and a pelvic kidney (1 case). The mean age at diagnosis was 60 years (37-76 years). All patients were treated with open surgery; 10, partial nephrectomies; 4, radical nephrectomies; and 1, nephroureterectomy with division of the renal isthmus. Pathology ranged from benign (simple cortical cysts, chronic pyelonephritis with secondary hydronephrosis) to malignant (12 cases of renal cell carcinomas [RCCs] and 1 case of urothelial carcinoma). Two patients of HKs presented with bilateral renal masses. The size of the RCC ranged from 2.5 to 13 cm. There were 11 cases of clear cell RCC, 1 case of papillary RCC (type 1), and 1 case of urothelial carcinoma. All the cases of RCC had negative surgical margins. Follow-up available in all patients ranged from 1 month up to 49 months. None of the patients developed any locoregional recurrences or distant metastases. In this patient cohort, the most common congenital anomaly associated with RCC is HK. All tumors behaved in an indolent fashion with prognosis related to pathologic tumor stage. Partial nephrectomy is a safe and effective procedure in appropriately selected patients.

  2. Working-class Filipino women's perspectives on factors that facilitate or hinder prenatal micronutrients supplementation to prevent congenital anomalies.

    PubMed

    Daack-Hirsch, Sandra; Gamboa, Henrietta

    2012-11-01

    The study was conducted to plan for a community-health campaign to inform working-class Filipinos about the causes and prevention of orofacial clefting. Prenatal micronutrients may play a role in preventing orofacial clefting. Therefore, women's practices and perspectives on barriers to and facilitators of micronutrient supplementation were elicited. A total of 43 women and 22 health care workers were interviewed. Barriers to taking supplements included side effects, late prenatal care, the view that micronutrients are medications, inadequate supply, and health care workers who were unaware that prenatal vitamin supplements prevent congenital anomalies. The main facilitator was women's understanding that prenatal micronutrients improve the physical well-being of both mother and child. Given that women view having healthy babies as a reason to take micronutrients and that the health care workers lacked knowledge related to the use of micronutrients to prevent congenital anomalies, uptake of prenatal micronutrient supplementation programs may improve by specifically promoting the health benefit of preventing congenital anomalies.

  3. A higher risk of congenital anomalies in the offspring of personnel who served aboard a Norwegian missile torpedo boat

    PubMed Central

    Mageroy, N; Mollerlokken, O J; Riise, T; Koefoed, V; Moen, B E

    2006-01-01

    Background In the 1990s, congenital anomalies were reported among children whose fathers had served aboard a Norwegian missile torpedo boat (MTB). The Royal Norwegian Navy asked the University of Bergen to look into this problem as one part of a general health and work environment surveillance. Aims To estimate any increased risk of having children with congenital anomalies and having stillborn children among the offspring of workers that had served aboard the MTB and to investigate possible differences in exposure and other risk factors between these groups. Methods Data from a cross‐sectional study among all current employees of the Norwegian Navy (n = 2265, response rate 58%) were analysed. Results The prevalence ratio of having a child with congenital malformations associated with working on the ship was 4.0 (95% CI 1.9 to 8.6). The prevalence ratio of having a child who was stillborn or died within one week was 4.1 (95% CI 1.7 to 9.9). Conclusion Service aboard the MTB was associated with an increased risk of having children with congenital birth defects and having children that were stillborn. The causes of these findings are unknown. PMID:16421386

  4. Perinatal mortality and congenital anomalies in babies of women with type 1 or type 2 diabetes in England, Wales, and Northern Ireland: population based study.

    PubMed

    Macintosh, Mary C M; Fleming, Kate M; Bailey, Jaron A; Doyle, Pat; Modder, Jo; Acolet, Dominique; Golightly, Shona; Miller, Alison

    2006-07-22

    To provide perinatal mortality and congenital anomaly rates for babies born to women with type 1 or type 2 diabetes in England, Wales, and Northern Ireland. National population based pregnancy cohort. 231 maternity units in England, Wales, and Northern Ireland. 2359 pregnancies to women with type 1 or type 2 diabetes who delivered between 1 March 2002 and 28 February 2003. Stillbirth rates; perinatal and neonatal mortality; prevalence of congenital anomalies. Of 2359 women with diabetes, 652 had type 2 diabetes and 1707 had type 1 diabetes. Women with type 2 diabetes were more likely to come from a Black, Asian, or other ethnic minority group (type 2, 48.8%; type 1, 9.1%) and from a deprived area (type 2, 46.3% in most deprived fifth; type 1, 22.8%). Perinatal mortality in babies of women with diabetes was 31.8/1000 births. Perinatal mortality was comparable in babies of women with type 1 (31.7/1000 births) and type 2 diabetes (32.3/1000) and was nearly four times higher than that in the general maternity population. 141 major congenital anomalies were confirmed in 109 offspring. The prevalence of major congenital anomaly was 46/1000 births in women with diabetes (48/1000 births for type 1 diabetes; 43/1000 for type 2 diabetes), more than double that expected. This increase was driven by anomalies of the nervous system, notably neural tube defects (4.2-fold), and congenital heart disease (3.4-fold). Anomalies in 71/109 (65%) offspring were diagnosed antenatally. Congenital heart disease was diagnosed antenatally in 23/42 (54.8%) offspring; anomalies other than congenital heart disease were diagnosed antenatally in 48/67 (71.6%) offspring. Perinatal mortality and prevalence of congenital anomalies are high in the babies of women with type 1 or type 2 diabetes. The rates do not seem to differ between the two types of diabetes.

  5. A population-based case-control study of drinking-water nitrate and congenital anomalies using Geographic Information Systems (GIS) to develop individual-level exposure estimates.

    PubMed

    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.

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

    PubMed Central

    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

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

    PubMed

    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.

  8. Maternal mortality, fetal death, congenital anomalies and infant mortality at an advanced maternal age.

    PubMed

    Czeizel, A

    1988-01-01

    Recent economic, technological, and social changes in Hungary have altered the role of women and thus patterns of childbearing. In 1986, 65.9% of births in Hungary involved mothers in the 20-29-year age group--generally regarded as the optimal period for childbearing. The distribution of the remaining births by age group was as follows: 19 years or under, 13.6%; 30-34 years, 15.3%; 35-39 years, 4.5%; and 40-49 years, 0.7%. Advanced maternal age has been a significant risk factor in maternal mortality in Hungary: of the 281 maternal deaths in 1977-86, 41 (14.6%) occurred in the 35-39-year age group and 24 (8.5%) involved women 40-49 years of age. Women in the 30-49-year age group have a 1.4-1.5 times higher risk of stillbirth, a 2.0-2.4 times greater risk of perinatal mortality, and a 2.6-4.3 times higher risk of infant mortality than women 20-29 years old. The risk of spontaneous abortion is 1.7 times higher for those 30-34 years old, 2.8 times higher for mothers 35-39 years of age, and 16.4 times higher for those 40-49 years old than for those in the optimal 20-29-year age range. The distribution of mean birthweight according to maternal age again indicates a detrimental effect of advanced maternal age. Finally, congenital anomalies such as neural tube defect, cleft lip or palate, congenital inguinal hernia, and especially Down's syndrome are more prevalent with increasing maternal age. On the other hand, the majority of these documented risks of birth defects at advanced maternal ages are now preventable through fetal diagnosis and other high-technology prenatal care measures. Most of the deleterious effect of advanced maternal age is a result of social factors (especially educational status) rather than biological factors. As the status of women in Hungary continues to improve, it should become obvious that the 20-29-year age range no longer constitutes the sole period for successful reproduction.

  9. Medical information concerning an infant's congenital anomaly: Successful communication to support parental adjustment and transition.

    PubMed

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

    2016-01-01

    When a diagnosis of congenital anomaly (CA) is made, parents are confronted with new and complex medical information, which may impact their parental adjustment. However, few studies have explored the role of information concerning the CA in parental adjustment, during the transition to parenthood. This study aimed to characterize both parents' perceptions of information concerning the CA and to investigate their role in maternal and paternal adjustment, one month after the disclosure and six months post-birth. Thirty six couples whose infants were prenatally- or postnatally diagnosed with a CA participated in this prospective longitudinal study. During both assessment times (Time 1: one-month after the disclosure; Time 2: six-month post-birth), they answered the Brief Symptom Inventory-18, the EUROHIS-QOL-8, and other specific questions to assess parents' information perceptions. Mothers were more satisfied than fathers (p < .01) with the amount of information that was received at the disclosure, although mothers and fathers reported similar levels of comprehension of information. Six-month post-birth, both parents were similarly satisfied with the information that was received, although mothers sought significantly more (p < .01) additional information. Both maternal and paternal adjustment were significantly associated with maternal perceptions of information concerning CA. Health professionals should recognize the important role of information concerning CA in parental adjustment and tailor their communication practices in order to promote parents' satisfaction and comprehension of the medical information. Despite the prominent influence of maternal perceptions on parental adjustment, both parents should be included in the communication process. Copyright © 2016 Elsevier Inc. All rights reserved.

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

    PubMed

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

    2011-08-01

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

  11. Treatment of the neonatal and infant megaureter in reflux, obstruction and complex congenital anomalies.

    PubMed

    de Jong, T P

    1997-06-01

    Controversy exists about the timing of surgery in neonates and infants with congenital anomalies such as refluxing and/or obstructing megaureters and ectopic ureteroceles. Discussion acuminates to the fact whether or not early reconstruction causes irreversible damage to the urodynamic properties of the bladder. Between 1986 and 1992, 49 neonates and infants with obstructing or refluxing megaureters and 23 neonates and infants with ectopic ureteroceles have been operated in our hospital with a mean follow-up of 7.3 years. Reimplant surgery consisted of a modified Politano Leadbetter procedure, ureterocele surgery consisted of complete excision of the ureterocele, including the urethral part, with reconstruction of the urethra, bladder neck and bladder base combined with ureteral reimplants. Urodynamically no unexpected changes or deteriorisation have been seen in any of the patients. Bladder capacity for age, especially in the reflux group, averages 200%. Two of the ureterocele patients needed clean intermittent catheterisation for several years. Results of reflux cure in megaureter surgery were disappointing in ureters with a flat diameter between 6 and 9 mm's that were not recalibrated leading to the conclusion that in young children recalibration of the distal ureter should be done from 6 mm's upwards. No post-operative ureteral obstruction was observed in any of the cases. The conclusion is that early major reconstructions of the lower urinary tract causes no specific harm to the urodynamic properties of the bladder and pelvic floor, provided that the surgery is performed by specialised pediatric urological surgeons. The reported urodynamic problems in this patient group are probably related to lack of experience to deal with dysfunctional voiding habits that are quite common in these children, also after successful surgery. These micturation problems are not related to the surgical procedures, they are the result of pre-existing urodynamic changes of bladder

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

    PubMed

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

    2017-09-01

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

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

    PubMed

    Dolk, Helen; Wang, Hao; Loane, Maria; Morris, Joan; Garne, Ester; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Barisic, Ingeborg; Doray, Berenice; Gatt, Miriam; Kallen, Karin; Khoshnood, Babak; Klungsoyr, Kari; Lahesmaa-Korpinen, Anna-Maria; Latos-Bielenska, Anna; Mejnartowicz, Jan P; Nelen, Vera; Neville, Amanda; O'Mahony, Mary; Pierini, Anna; Rißmann, Anke; Tucker, David; Wellesley, Diana; Wiesel, Awi; de Jong-van den Berg, Lolkje T W

    2016-05-03

    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). This was a population-based case-malformed control study based on 21 EUROCAT CA registries covering 10.1 million births (1995-2011), including births to 2005 in which the clubfoot signal was generated and a subsequent independent study population of 6.3 million births. A total of 226,806 babies with CA included livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. First-trimester lamotrigine monotherapy exposure in OC cases and clubfoot cases was compared to other nonchromosomal CA (controls). Odds ratios (OR) were adjusted for registry. An exploratory analysis compared the proportion of each standard EUROCAT CA subgroup among all babies with nonchromosomal CA exposed to lamotrigine monotherapy with non-AED exposed pregnancies. There were 147 lamotrigine monotherapy-exposed babies with nonchromosomal CA. For all OC, ORadj was 1.31 (95% confidence interval [CI] 0.73-2.33), isolated OC 1.45 (95% CI 0.80-2.63), isolated cleft palate 1.69 (95% CI 0.69-4.15). Overall ORadj for clubfoot was 1.83 (95% CI 1.01-3.31) and 1.43 (95% CI 0.66-3.08) in the independent study population. No other specific CA were significantly associated with lamotrigine monotherapy. The risk of OC was not significantly raised and we estimate the excess risk of OC to be less than 1 in every 550 exposed babies. We have not found strong independent evidence of a risk of clubfoot subsequent to our original signal. Our study cannot assess the general malformation risk among lamotrigine-exposed pregnancies. © 2016 American Academy of Neurology.

  14. Embryological basis and clinical correlation of the rare congenital anomaly of the human gall bladder: - "the diverticulum" - a morphological study.

    PubMed

    Rajguru, Jaba; Jain, Shilpi; Khare, Satyam; Fulzele, Ratna R; Ghai, Rashmi

    2013-10-01

    Diverticulum of the human gall bladder is an important but distinct anatomical entity with significant clinical implications. It is one of the rarest congenital anomalies of the gall bladder being rarely discussed in literature. This article details the morphology of the diverticula found, along with the embryological basis and clinical significance of this important anatomical and clinical entity. To study the diverticula found, with respect to their morphology, and ascertain whether they were of congenital or acquired variety. Setting and Designs: The present study is a retrospective study carried on hundred cadavers during undergraduate dissection, in the Department of Anatomy, Jawaharlal Nehru Medical College, Sawangi (Meghe), Wardha, and Department of Anatomy, Subharti Medical College , Meerut during a four year period i.e. 2008-2012 after obtaining necessary permission from institutional ethical committee. Hundred gall bladder specimens collected from 10% formalin fixed cadavers were studied in detail with regard to their number, position, shapes dimensions and histology. Nine, congenital (true) diverticula were found in one hundred gall bladder specimens. The diverticula were of various shapes and dimensions. They formed pouches on the luminal surface of the gall bladder. Diagnosis of congenital diverticulum was confirmed by histology. In this cadaveric study, solitary diverticulum was found in nine (9%) specimens out of one hundred specimens. Association of diverticulum with non-specific prolonged ailments, acalculus cholecystitis, cholecystitis and cholelithiasis, recurrent cholangitis and carcinoma of gallbladder has been reported in literature. This important anatomical as well as clinical entity poses challenges for radiologists and laparoscopic surgeons during interventional procedures and also should be differentiated from other types of congenital anomalies and pathological states of gall bladder.

  15. Thrombosis of a drainage vein in developmental venous anomaly (DVA) leading venous infarction: a case report and review of the literature.

    PubMed

    Kiroglu, Yilmaz; Oran, Ismail; Dalbasti, Tayfun; Karabulut, Nevzat; Calli, Cem

    2011-04-01

    Developmental venous anomalies (DVAs) are common congenital venous drainage anomalies. Although they typically have a benign clinical course and a low symptomatic rate, thrombosis of a drainage vein may occur, leading to potentially debilitating complications. We report imaging findings of posterior fossa DVA with a thrombosed drainage vein in a patient with nonhemorrhagic cerebellar infarct. We also review the relevant literature on the subject. Copyright © 2009 by the American Society of Neuroimaging.

  16. Syndromes and anomalies associated with cleft

    PubMed Central

    Venkatesh, R.

    2009-01-01

    Orofacial clefts are one of the commonest birth defects, and may be associated with other congenital anomalies. The majority of these orofacial clefts are nonsyndromic. A significant percentage of these clefts both syndromic and non-syndromic may have associated anomalies. Apart from reviewing other studies, this article also analyses a study of associated anomalies from a tertiary cleft centre in India. PMID:19884681

  17. Familial isolated congenital asplenia: case report and literature review.

    PubMed

    Ahmed, Syed Ather; Zengeya, Stanley; Kini, Usha; Pollard, Andrew J

    2010-03-01

    Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a family of three siblings with isolated congenital asplenia and unaffected parents, suggestive of recessive inheritance. The diagnosis in the proband was made post mortem following overwhelming pneumococcal sepsis. We also review the literature and compare the eight families previously reported with congenital isolated asplenia.

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

    ClinicalTrials.gov

    2017-02-16

    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

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

    PubMed Central

    Vinceti, Marco; Malagoli, Carlotta; Fabbi, Sara; Teggi, Sergio; Rodolfi, Rossella; Garavelli, Livia; Astolfi, Gianni; Rivieri, Francesca

    2009-01-01

    Background Waste incineration releases into the environment toxic substances having a teratogenic potential, but little epidemiologic evidence is available on this topic. We aimed at examining the relation between exposure to the emissions from a municipal solid waste incinerator and risk of birth defects in a northern Italy community, using Geographical Information System (GIS) data to estimate exposure and a population-based case-control study design. By modelling the incinerator emissions, we defined in the GIS three areas of increasing exposure according to predicted dioxins concentrations. We mapped the 228 births and induced abortions with diagnosis of congenital anomalies observed during the 1998–2006 period, together with a corresponding series of control births matched for year and hospital of birth/abortion as well as maternal age, using maternal address in the first three months of pregnancy to geocode cases and controls. Results Among women residing in the areas with medium and high exposure, prevalence of anomalies in the offspring was substantially comparable to that observed in the control population, nor dose-response relations for any of the major categories of birth defects emerged. Furthermore, odds ratio for congenital anomalies did not decrease during a prolonged shut-down period of the plant. Conclusion Overall, these findings do not lend support to the hypothesis that the environmental contamination occurring around an incineration plant such as that examined in this study may induce major teratogenic effects. PMID:19208225

  20. The association of ambient air pollution and traffic exposures with selected congenital anomalies in the San Joaquin Valley of California.

    PubMed

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

    2013-05-15

    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.

  1. Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases.

    PubMed

    Schroeder, R; Mets, M B; Maumenee, I H

    1987-03-01

    Leber's congenital amaurosis is a hereditary clinical disorder that may be associated with several different diseases. This study consists of a retrospective review of 43 cases. Twenty of our patients had fundus appearances that resembled retinitis pigmentosa. Five had normal-appearing fundi. The remainder had other, previously reported fundus abnormalities, with the exception of two patients who demonstrated a new fundus finding, a nummular pigmentary pattern. Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.

  2. Taussig-Bing Anomaly

    PubMed Central

    Konstantinov, Igor E.

    2009-01-01

    Taussig-Bing anomaly is a rare congenital heart malformation that was first described in 1949 by Helen B. Taussig (1898–1986) and Richard J. Bing (1909–). Although substantial improvement has since been achieved in surgical results of the repair of the anomaly, management of the Taussig-Bing anomaly remains challenging. A history of the original description of the anomaly, the life stories of the individuals who first described it, and the current outcomes of its surgical management are reviewed herein. PMID:20069085

  3. Congenital anomalies: parents' anxiety and women's concerns before prenatal testing and women's opinions towards the risk factors.

    PubMed

    Sahin, Nevin Hotun; Gungor, Ilkay

    2008-03-01

    The aims of the study were to determine parents' anxiety and women's concerns before prenatal testing and women's opinions towards the risk factors for congenital anomalies. Undergoing prenatal screening or diagnostic tests cause potential distress and worry for parents. Little attention has been paid to the psychological aspect of such testing in clinical and research areas. This descriptive study was conducted in a prenatal diagnosis unit in a university hospital in Istanbul. The convenience sample of the study consisted of 200 women and 104 partners who applied for prenatal screening or diagnosis tests. Women were interviewed by the researcher before they underwent prenatal screening or diagnostic procedures. Data were gathered through interviews using an interview form that addressed women's evaluations for causes of fear and their opinions towards the risk factors for congenital anomalies. Spielberger State Anxiety Inventory was used to assess parents' anxiety before prenatal testing. Anxiety scores of women and their partners were higher in invasive tests group and suspicious findings group. The possibility of a malformation detected and of it being missed were major concerns of women. Receiving insufficient information about the procedure, undergoing this test for the first time, smoking and lower education was associated with increased anxiety scores in women. Although women knew about some certain risk factors for congenital anomalies like drug use, smoking and malnutrition, their knowledge about other risks were not sufficient. Prenatal tests, both routine screening and prenatal diagnosis, cause anxiety for parents. Understanding women's concerns and awareness of risk factors are important for providing care and counselling. Relevance to clinical practice. Nurses can provide appropriate information and support at each step in the screening and diagnosis process so that parents' psychological stress is minimised.

  4. Congenital mid-line cervical cleft: case report and review of literature.

    PubMed

    Mlynarek, A; Hagr, A; Tewfik, T L; Nguyen, V H

    2003-11-01

    Congenital Mid-line Cervical Cleft (CMCC) is a rare but interesting congenital anomaly of the neck that is frequently misdiagnosed. Much controversy exist regarding its aetiology. Embryologically, the occurrence of CMCC is thought to be due to many hypotheses that include impaired mid-line fusion of the first or second branchial arches, exteriorisation of a thyroglossal duct remnant, and or increased pressure in the cervical area from the pericardial roof in the developing embryo. Histologically, the cleft usually consists of a stratified keratinized squamous epithelium with hyperkeratosis, dermal fibrosis and little or no skin appendages. Associated clinical features could include thyroglossal duct cysts, cleft lip/mandible/sternum, cervical contractures, mandibular spurs, microgenia and or bronchogenic cysts. In this article we present a patient with CMCC. An extensive review of the literature is also included.

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

    PubMed Central

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

    2015-01-01

    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. PMID:26655010

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

    PubMed

    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.

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

    PubMed Central

    Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Barøy, Tuva; Holmgren, Asbjørn; Stray-Pedersen, Asbjørg; Bryceson, Yenan T.; Strømme, 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 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. PMID:27916860

  8. The association between autism spectrum disorders and congenital anomalies by organ systems in a Finnish national birth cohort.

    PubMed

    Timonen-Soivio, Laura; Sourander, Andre; Malm, Heli; Hinkka-Yli-Salomäki, Susanna; Gissler, Mika; Brown, Alan; Vanhala, Raija

    2015-10-01

    The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987-2000 and a total of four controls per case (n = 17,695). CAs of the eye, central nervous system, and specific craniofacial anomalies were most strongly associated with ASD. Children with ASD and co-occurring ID were more likely to have CAs compared to ASD children without ID. The results suggest that some cases of ASD may originate during organogenesis, in the early first trimester of pregnancy. The results of this study may be useful for identifying prenatal etiological factors and elucidating the molecular pathogenesis of ASD.

  9. Association of congenital anomalies with fracture of spine, trunk, and upper and lower limbs among young people: A population-based matched cohort study in Taiwan.

    PubMed

    Ma, Chia-Man; Lin, Lih-Hwa; Chang, Hsing-Yi; Chou, Pei-Chi; Liao, Po-Chi; Chen, Huey-Yi; Man, Kee-Ming; Chiang, Jen-Huai; Chang, Yin-Jen; Tsai, Ming-Yen; Chen, Wen-Chi; Chen, Yung-Hsiang

    2017-09-01

    According to the Traditional Chinese Medicine (TCM) theory, congenital anomalies are caused by kidney malfunctions, which decreased the bone quality, and may eventually result in bone fractures. This retrospective cohort study investigated the relationship between congenital anomalies and fracture of spine, trunk, and upper and lower limbs in young people. We utilized data from the National Health Insurance Research Database of Taiwan. This study included patients with congenital anomalies (International Classification of Diseases/ICD-9 code: 740-759) and a comparison group of patients without congenital anomalies. Cases evaluated were fracture of spine and trunk (ICD-9 codes: 805-809), fracture of upper limbs (ICD-9 codes: 810-819), and fracture of lower limbs (ICD-9 codes: 820-829). Our study shows that in comparison to the control group, patients with congenital anomalies are 1.11 times more likely to develop fractures. This is the first documented research study that supports the TCM theory that "the Kidney governs the bones, and healthy bones give the body stabilization and prevent fracture."

  10. A comparison of thoracolumbar intervertebral disc extrusion in French Bulldogs and Dachshunds and association with congenital vertebral anomalies.

    PubMed

    Aikawa, Takeshi; Shibata, Mitsuhiro; Asano, Moe; Hara, Yasushi; Tagawa, Masahiro; Orima, Hiromitsu

    2014-03-01

    To compare data for French Bulldogs and Dachshunds that had hemilaminectomy for thoracolumbar intervertebral disc extrusion (T-L IVDE) by 1 surgeon and to evaluate the association between IVDE and congenital vertebral anomalies. Retrospective case series. French Bulldogs (n = 47) and 671 Dachshunds. Age, gender, vertebral anomaly, kyphosis/kyphoscoliosis, IVDE site, non-recovery and progressive hemorrhagic myelomalacia development from grade 5 (paraplegia without deep nociception) were compared between the 2 breeds. French Bulldogs were significantly younger (P = .00001), more likely to be male (P = .023), and more likely to have a congenital vertebral anomaly and kyphosis/kyphoscoliosis (P < .00001) than Dachshunds. The frequencies of French Bulldogs with IVDE within typical sites (T11-L3) were significantly lower (P = .0005) and within caudal sites (L3-L7) significantly higher (P = .0001) compared with Dachshunds. None of the French Bulldogs had IVDE within the kyphotic/kyphoscoliotic segment. The frequency of lumbar IVDE (L1-L5) in French Bulldogs with kyphosis/kyphoscoliosis was significantly higher (P = .003) compared with French Bulldogs without kyphosis/kyphoscoliosis. In grade 5 dogs, the risk of developing progressive hemorrhagic myelomalacia in French Bulldogs was significantly higher (P = .03) than in Dachshunds. The distribution of IVDE site in French Bulldogs within the thoracolumbar and lumbar spine was different from Dachshunds. IVDE sites were not located at the sites of vertebral anomaly. French Bulldogs appeared to have T-L IVDE at younger ages, with higher male predisposition and higher risk of developing progressive hemorrhagic myelomalacia from grade 5 compared with Dachshunds. © Copyright 2014 by The American College of Veterinary Surgeons.

  11. Congenital defects of the pericardium: a review.

    PubMed

    Shah, Ankit B; Kronzon, Itzhak

    2015-08-01

    Pericardial defects are a rare disorder that can be characterized as acquired or congenital. Congenital defects can be further characterized by location and size of the defect, e.g. left- or right-sided and partial or complete absence of the pericardium. While physical examination and electrocardiogram are not diagnostic, chest radiographs and echocardiography have findings that should alert the clinician to the absence of the pericardium as a possible diagnosis. Despite its limitations with visualizing the normal pericardium in areas of minimal adipose, cardiac magnetic resonance is currently the gold standard for diagnosing the congenital absence of the pericardium. Patients have a similar life expectancy to those without pericardial defects; however in certain cases, herniation and strangulation of cardiac chambers can be life threatening and lead to sudden cardiac death. Treatment is tailored to the patient's symptoms, presentation, and the size and location of the defect. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  12. Review article: the clinical management of congenital chloride diarrhoea.

    PubMed

    Wedenoja, S; Höglund, P; Holmberg, C

    2010-02-15

    Congenital chloride diarrhoea in a newborn is a medical emergency, requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. While most of the 250 cases reported arise from Finland, Poland and Arab countries, single cases with this autosomal recessive disorder appear worldwide. Such congenital chloride diarrhoea rarity makes diagnosis difficult. Life-long salt substitution with NaCl and KCl stabilizes fluid, electrolyte and acid-base balance diagnosis. When properly treated, the long-term outcome is favourable. To summarize data on congenital chloride diarrhoea diagnosis, pathophysiology and treatment, and to provide guidelines for both acute and long-term management of congenital chloride diarrhoea. Data are based on MEDLINE search for 'chloride diarrhoea', in addition to clinical experience in the treatment of the largest known series of patients. Treatment of congenital chloride diarrhoea involves (i) life-long salt substitution; (ii) management of acute dehydration and hypokalaemia during gastroenteritis or other infections; and (iii) recognition and treatment of other manifestations of the disease, such as intestinal inflammation, renal impairment and male subfertility. This review summarizes data on congenital chloride diarrhoea and provides guidelines for treatment. After being a mostly paediatric problem, adult patients constitute a rare challenge for gastroenterologists worldwide.

  13. Leber's congenital amaurosis. Relationship of structural CNS anomalies to psychomotor retardation.

    PubMed

    Weinstein, J M; Gleaton, M; Weidner, W A; Young, R S

    1984-02-01

    Three patients (two of them siblings) had Leber's congenital amaurosis and cerebellar disease. Despite blindness and severe motor deficits, all three patients have achieved relatively normal intellectual and psychosocial milestones. Computed tomographic scans, performed in two patients, demonstrated hypoplasia of the cerebellar vermis in both. The presence of delayed speech and motor development as well as structural CNS abnormalities in children with Leber's congenital amaurosis does not necessarily imply that severe intellectual impairment will be present.

  14. Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries.

    PubMed

    López-Camelo, Jorge S; Castilla, Eduardo E; Orioli, Iêda M

    2010-10-01

    The aim of the present investigation was to search for a reduction in birth prevalence estimates of 52 selected types of congenital anomalies, associated with folic acid fortification programs in Chile, Argentina, and Brazil. The material included 3,347,559 total births in 77 hospitals of the three countries during the 1982-2007 period: 596,704 births (17 hospitals) in Chile, 1,643,341 (41 hospitals) in Argentina, and 1,107,514 (19 hospitals) in Brazil. We compared pre- and post-fortification rates within each hospital and the resulting Prevalence Rate Ratios (PRRs) were pooled by country. Statistically significant reductions in birth prevalence estimates after fortification were observed for neural tube defects (NTDs), septal heart defects, transverse limb deficiencies, and subluxation of the hip. However, only the reduction of NTDs appeared to be associated with folic acid fortification and not due to other factors, because of its consistency among the three countries, as well as with previously published reports, and its strong statistical significance. Among the NTDs, the maximum prevalence reduction was observed for isolated cephalic (cervical-thoracic) spina bifida, followed by caudal (lumbo-sacral) spina bifida, anencephaly, and cephalocele. This observation suggests etiologic and pathogenetic heterogeneity among different levels of spina bifida, as well as among different NTD subtypes. We concluded that food fortification with folic acid prevents NTDs but not other types of congenital anomalies.

  15. Glandular diphallus with urethral duplication: Conventional technique for a rare congenital anomaly

    PubMed Central

    Aihole, Jayalaxmi S.; Babu, Narendra; Shankar, Gauri

    2015-01-01

    Diphallus is a rare anomaly and its association with urethral duplication is extremely rare. Numerous associated genitourinary and gastrointestinal anomalies have been reported with this condition. Challenges in the management are incorporation of the glans and the dominant urethra during reconstruction. We report the successful management of a case of glandular diphallus with complete urethral duplication retaining the dorsal urethra. PMID:26604454

  16. Risk of major congenital anomalies after assisted hatching: analysis of three-year data from the national assisted reproduction registry in Japan.

    PubMed

    Jwa, Junna; Jwa, Seung Chik; Kuwahara, Akira; Yoshida, Atsumi; Saito, Hidekazu

    2015-07-01

    To assess perinatal risk of major congenital anomalies in children born after embryo transfer with assisted hatching (AH). Retrospective cohort study. Not applicable. Cycles registered from 2010 to 2012 and conceived via single-embryo transfer were included for the analysis. Live births, still births after 22 weeks of gestation, and selectively terminated cases because of congenital anomalies were included. None. Major congenital anomaly. AH was performed in 35,488 cycles among 72,125 included cycles (49.2%). A total of 1,046 major congenital anomalies (1.4%) were identified (1.36% in AH group vs. 1.50% in non-AH group). Overall risks for major congenital anomalies were not significantly different between AH and non-AH groups adjusting for maternal age, calendar year, fetal sex, embryo stage at transfer, and status of cryopreservation. There were 1,009 cases of twins (1.5%) and 10 cases of triplets (0.015%) among all included cycles. No specific organ system demonstrated significant association between AH and non-AH groups. Subgroup analysis demonstrated no significant association between AH and non-AH groups in intracytoplasmic sperm injection cycles or in vitro fertilization in fresh cycles. Similar nonsignificant association was observed between early-cleavage or blastocyst stage at transfer in frozen-thawed cycles. Our results suggest that AH alone does not increase the risk of major congenital anomaly. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  17. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part III: Cyanotic Heart Diseases and Complex Congenital Anomalies

    PubMed Central

    Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-01-01

    From the stand point of radiographic analysis most of the complex cyanotic congenital heart diseases (CHD), can be divided into those associated with decreased or increased pulmonary vascularity. Combination of a specific cardiac configuration and status of lung vasculature in a clinical context allows plain film diagnosis to be predicted in some CHD. Correlation of the position of the cardiac apex in relation to the visceral situs is an important information that can be obtained from the plain film. This information helps in gathering information about the atrio-ventricular, ventricular arterial concordance or discordance. Categorization of the cyanotic heart disease based on vascularity is presented below. Thorough understanding of cardiac anatomy by different imaging methods is essential in understanding and interpreting complex cardiac disease. Basic anatomical details and background for interpretation are provided in the previous parts of this presentation. PMID:27630924

  18. Reconstruction of the lids of a child with microblepharon and multiple congenital anomalies.

    PubMed Central

    Merriam, J C; Stalnecker, M C; Merriam, G R

    1988-01-01

    The initial stages in the rehabilitation of a male child with severe microblepharon, corneal opacities, bilateral facial clefts, bilateral complete cleft lip and palate, and unilateral syndactyly are described. Review of the literature suggests that severe microblepharon is associated with other craniofacial anomalies, and often the child is stillborn or retarded. Surviving children have been abandoned because of their appearance. The child described in this case appears to be unique because his intelligence is normal, and, to our knowledge, this is the first reported case of penetrating keratoplasty after reconstruction of functional eyelids. The principal problems after corneal grafting appear to have been chronic partial exposure due to inadequate lid length and a poor Bell's reflex and the persistence of a rim of vascularized fibrous tissue around the corneal graft. Future reconstructive surgery is outlined. Images FIGURE 1 FIGURE 2 FIGURE 3 FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 8 FIGURE 10 FIGURE 11 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 FIGURE 20 FIGURE 21 FIGURE 22 PMID:2979029

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

    PubMed Central

    2010-01-01

    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. PMID:20618949

  20. Burden of surgical congenital anomalies in Kenya: a population-based study.

    PubMed

    Wu, Victor K; Poenaru, Dan; Poley, Marten J

    2013-06-01

    Congenital malformations are a significant component of the global burden of disease among children, accounting for 25 million disability-adjusted life years (DALYs) worldwide. Unfortunately, efforts to estimate the burden of pediatric surgical disease in Africa are limited by the absence of population-based data. The objective of this study was to estimate both the prevalence and the disease burden of several common congenital surgical malformations among children in Kenya. Community volunteers randomly surveyed households at sites across Kenya. Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, hypospadias, hydrocephalus, spina bifida/encephalocele, cleft lip, bladder exstrophy and imperforate anus. DALYs were then calculated based on life expectancy tables and published and estimated disability weights for the conditions encountered. The caregivers of 5559 children (54% female) were surveyed in 1909 households, 56% of which were rural, 31% suburban and 12% urban. The overall prevalence of congenital malformations was 6.3 per 1000 children, amounting to 54-120 DALYs per 1000 children, depending on the life tables used. The most prevalent condition in the survey was club foot, whereas spina bifida had the highest burden of disease. This study is the first to document the prevalence of selected surgical congenital malformations among children in Kenya and the burden of disease associated with them. The results will serve to inform strategies aimed at reducing the unmet burden of surgical disease in resource-limited regions.

  1. Peri-conception hyperglycaemia and nephropathy are associated with risk of congenital anomaly in women with pre-existing diabetes: a population-based cohort study.

    PubMed

    Bell, R; Glinianaia, S V; Tennant, P W G; Bilous, R W; Rankin, J

    2012-02-08

    AIMS: The aim of this study was to quantify the risk of major congenital anomaly, and to assess the influence of peri-conception HbA(1c) and other clinical and socio-demographic factors on the risk of congenital anomaly occurrence in offspring of women with type 1 and type 2 diabetes diagnosed before pregnancy. METHODS: This was a population-based cohort study using linked data from registers of congenital anomaly and diabetes in pregnancy. A total of 401,149 singleton pregnancies (1,677 in women with diabetes) between 1996 and 2008 resulting in live birth, fetal death at ≥20 weeks' gestation or termination of pregnancy for fetal anomaly were included. RESULTS: The rate of non-chromosomal major congenital anomaly in women with diabetes was 71.6 per 1,000 pregnancies (95% CI 59.6, 84.9), a relative risk of 3.8 (95% CI 3.2, 4.5) compared with women without diabetes. There was a three- to sixfold increased risk across all common anomaly groups. In a multivariate analysis, peri-conception glycaemic control (adjusted OR [aOR] 1.3 [95% CI 1.2, 1.4] per 1% [11 mmol/mol] linear increase in HbA(1c) above 6.3% [45 mmol/mol]) and pre-existing nephropathy (aOR 2.5 [95% CI 1.1, 5.3]) were significant independent predictors of congenital anomaly. Associations with gestation at booking (aOR 1.1 [95% CI 1.0, 1.1]) and parity (aOR 1.6 [95% CI 1.0, 2. 5]) were not significant. Unadjusted risk was higher for women from deprived areas or who did not take folate. Type and duration of diabetes, ethnicity, age, BMI, preconception care, smoking and fetal sex were not associated with congenital anomaly risk. CONCLUSIONS: Peri-conception glycaemia is the most important modifiable risk factor for congenital anomaly in women with diabetes. The association with nephropathy merits further study.

  2. Congenitally missing teeth (hypodontia): A review of the literature concerning the etiology, prevalence, risk factors, patterns and treatment

    PubMed Central

    Rakhshan, Vahid

    2015-01-01

    Congenitally missing teeth (CMT), or as usually called hypodontia, is a highly prevalent and costly dental anomaly. Besides an unfavorable appearance, patients with missing teeth may suffer from malocclusion, periodontal damage, insufficient alveolar bone growth, reduced chewing ability, inarticulate pronunciation and other problems. Treatment might be usually expensive and multidisciplinary. This highly frequent and yet expensive anomaly is of interest to numerous clinical, basic science and public health fields such as orthodontics, pediatric dentistry, prosthodontics, periodontics, maxillofacial surgery, anatomy, anthropology and even the insurance industry. This essay reviews the findings on the etiology, prevalence, risk factors, occurrence patterns, skeletal changes and treatments of congenitally missing teeth. It seems that CMT usually appears in females and in the permanent dentition. It is not conclusive whether it tends to occur more in the maxilla or mandible and also in the anterior versus posterior segments. It can accompany various complications and should be attended by expert teams as soon as possible. PMID:25709668

  3. Congenitally missing teeth (hypodontia): A review of the literature concerning the etiology, prevalence, risk factors, patterns and treatment.

    PubMed

    Rakhshan, Vahid

    2015-01-01

    Congenitally missing teeth (CMT), or as usually called hypodontia, is a highly prevalent and costly dental anomaly. Besides an unfavorable appearance, patients with missing teeth may suffer from malocclusion, periodontal damage, insufficient alveolar bone growth, reduced chewing ability, inarticulate pronunciation and other problems. Treatment might be usually expensive and multidisciplinary. This highly frequent and yet expensive anomaly is of interest to numerous clinical, basic science and public health fields such as orthodontics, pediatric dentistry, prosthodontics, periodontics, maxillofacial surgery, anatomy, anthropology and even the insurance industry. This essay reviews the findings on the etiology, prevalence, risk factors, occurrence patterns, skeletal changes and treatments of congenitally missing teeth. It seems that CMT usually appears in females and in the permanent dentition. It is not conclusive whether it tends to occur more in the maxilla or mandible and also in the anterior versus posterior segments. It can accompany various complications and should be attended by expert teams as soon as possible.

  4. An unusual combination of congenital anomalies in an adult patient: patent ductus arteriosus, Kommerell's diverticulum with aberrant right subclavian artery, and heterotaxy syndrome.

    PubMed

    Celik, Murat; Celik, Turgay; Iyisoy, Atila; Guler, Adem

    2011-01-01

    The heterotaxy syndrome is a rare and sporadic disorder. This syndrome presents with situs ambiguus, splenic malformations such as asplenia or polysplenia, and congenital heart disease. Congenital heart diseases associated with this syndrome include a broad variety of manifestations. Patent ductus arteriosus is one of them and percutaneous transcatheter closure can be challenging in the setting of this syndrome. Kommerell's diverticulum is a saccular aneurysmal dilation at the origin of an aberrant subclavian artery, and can be related with other congenital anomalies. However, there is no previous report of Kommerell's diverticulum being found together with patent ductus arteriosus and heterotaxy syndrome.

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

    PubMed Central

    Lee, Yu-Sheng; Jeng, Mei-Jy; Tsao, Pei-Chen

    2015-01-01

    Background 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. Methods 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. Results 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. Conclusion 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. PMID:26334302

  6. Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study

    PubMed Central

    Jentink, Janneke; Dolk, Helen; Loane, Maria A; Morris, Joan K; Wellesley, Diana; Garne, Ester

    2010-01-01

    Objective To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy. Design A review of all published cohort studies to identify key indications and a population based case-control study to test these indications. Setting Review of PubMed, Web of Science, and Embase for papers about carbamazepine exposure in the first trimester of pregnancy and specific malformations, and the EUROCAT Antiepileptic Study Database, including data from 19 European population based congenital anomaly registries, 1995-2005. Participants The literature review covered eight cohort studies of 2680 pregnancies with carbamazepine monotherapy exposure, and the EUROCAT dataset included 98 075 registrations of malformations covering over 3.8 million births. Main outcome measures Overall prevalence for a major congenital malformation after exposure to carbamazepine monotherapy in the first trimester. Odds ratios for malformations with exposure to carbamazepine among cases (five types of malformation identified in the literature review) compared with two groups of controls: other non-chromosomal registrations of malformations and chromosomal syndromes. Results The literature review yielded an overall prevalence for a major congenital malformation of 3.3% (95% confidence interval 2.7 to 4.2) after exposure to carbamazepine monotherapy in the first trimester. In 131 registrations of malformations, the fetus had been exposed to carbamazepine monotherapy. Spina bifida was the only specific major congenital malformation significantly associated with exposure to carbamazepine monotherapy (odds ratio 2.6 (95% confidence interval 1.2 to 5.3) compared with no antiepileptic drug), but the risk was smaller for carbamazepine than for valproic acid (0.2, 0.1 to 0.6). There was no evidence for an association with total anomalous pulmonary venous return (no cases with carbamazepine exposure), cleft lip (with or without palate) (0.2, 0.0 to 1

  7. [Congenital anomaly band, a rare cause of intestinal obstruction in children. Case report].

    PubMed

    Galván-Montaño, Alfonso; Trejo-Ávila, Mario; García-Moreno, Silvia; Pérez González, Araceli

    Intestinal obstruction in children may be congenital, acquired, intrinsic or extrinsic. Most intestinal obstructions in children are the result of postoperative adhesions. Those caused by anomalous congenital band are extremely rare. Patient of a 1-year-old male, with no previous history of abdominal surgery or trauma. He suffered with vomiting of bile content and loss of appetite at home three days before admission. On physical examination, he was irritable, with abdominal distention, absence of peristalsis and abdominal tenderness, with no signs of peritoneal irritation being found. The blood count reported leucocytosis and the x-rays show dilated small bowel loops, fluid levels and absence of air in rectal ampulla. An open laparotomy was subsequently performed, and the intraoperative findings were consistent with a congenital band extending from the anti-mesenteric wall of the jejunum to the root of mesentery, compressing the ileum at 50cm from the ileocecal valve, causing ischaemia. The band was ligated and divided, with an uneventful postoperative course. He was discharged 4 days later without complications. The anomalous congenital band is not associated with abdominal problems, such as remnants of previous laparotomies or embryological structures, such as vitelline vessels or omphalomesenteric yolk duct. These bands seem to have a congenital origin and cause bowel obstruction by trapping between the band and the mesentery. The diagnosis of anomalous congenital band is extremely difficult and no imaging study is useful for the diagnosis, and only exploratory laparotomy or laparoscopy is useful for diagnosis and treatment of this problem. Copyright © 2015 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

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

    PubMed Central

    2011-01-01

    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 μgL-1) and the

  9. The load of genetic and partially genetic disorders in man. I. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life.

    PubMed

    Czeizel, A; Sankaranarayanan, K

    1984-08-01

    This paper represents an attempt to estimate quantitatively, the detriment associated with spontaneously arising congenital anomalies in man. The system used in the International Classification of Diseases (Chapter XIV, entries 740-759) has been followed to classify the congenital anomalies. Detriment was assessed using estimates of the years of life lost, years of life potentially impaired and years of life actually impaired, as indicators. The data on birth prevalences for the various conditions were derived from several epidemiological surveys carried out in Hungary and from the Hungarian Congenital Malformation Registry. Most of the information on mortality profiles was obtained from the records of the Hungarian Central Statistical Office, Budapest. An overall comparison of the prevalence figures in Hungary with those for the U.S. (this study aimed at complete ascertainment) and for the Canadian province of British Columbia (in this study, ascertainment is believed to be incomplete) showed that, in Hungary, at least certain classes of congenital anomalies, particularly some of the less severe ones, have been under-ascertained. Since detriment estimates are heavily dependent on accurate estimates of birth prevalences, we believe that the estimates of detriment arrived at using the Hungarian data may also be underestimates. In Hungary, the total birth prevalence of all isolated major congenital anomalies is of the order of about 600/10(4). Our calculations show that these congenital anomalies may cause, per 10(4) livebirths, about 4800 years of life loss, about 37000 years of potentially impaired life and about 4500 years of actually impaired life. In these calculations, it has been assumed that the average life-expectancy at live birth for the general population is 70 years. These estimates are considerably higher than those made by Carter for detriment associated with spontaneously arising monogenic disorders.

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

    PubMed

    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.

  11. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

    SciTech Connect

    Hamel, B.C.J.; Mariman, E.C.M.; Beersum, S.E.C. van; Ropers, H.H.; Schoonbrood-Lenssen, A.M.J.

    1994-07-15

    We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micro-gnathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at {theta} = 0.0). 24 refs., 12 figs., 1 tab.

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

    PubMed

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

    2015-01-01

    antenatal counselling for congenital anomaly tests is conceptualised as having both Health Education (HE) and Decision-Making Support (DMS) functions. Building and maintaining a client-midwife relation (CMR) is seen as a necessary condition for enabling these two counselling functions. However, little is known about how these functions are fulfilled in daily practice. This study aims to describe the relative expression of the antenatal counselling functions; to describe the ratio of client versus midwife conversational contribution and to get insight into clients' characteristics, which are associated with midwives' expressions of the functions of antenatal counselling. exploratory video-observational study. 269 videotaped antenatal counselling sessions for congenital anomaly tests provided by 20 midwives within six Dutch practices. we used an adapted version of the Roter Interaction Analysis System to code the client-midwife communication. Multilevel linear regression analyses were used to analyse associations between clients' characteristics and midwives' expressions of antenatal counselling in practice. most utterances made during counselling were coded as HE (41%); a quarter as DMS (23%) and 36% as CMR. Midwives contributed the most to the HE compared to clients or their partners (91% versus 9%) and less to the DMS function of counselling (61% versus 39%). Multilevel analyses showed an independent association between parity and shorter duration of antenatal counselling; (β=-3.01; p<0.001). The amount of utterances concerning HE and DMS during counselling of multipara was less compared to nulliparous. antenatal counselling for congenital anomaly tests by midwives is focused on giving HE compared to DMS. The relatively low contribution of clients during DMS might indicate poor DMS given by midwives. Counselling of multipara was significantly shorter than counselling of nulliparous; multiparae received less HE as well as DMS compared to nulliparous women. our

  13. Epidemiology of congenital upper limb anomalies in Stockholm, Sweden, 1997 to 2007: application of the Oberg, Manske, and Tonkin classification.

    PubMed

    Ekblom, Anna Gerber; Laurell, Tobias; Arner, Marianne

    2014-02-01

    To investigate the epidemiology of congenital upper limb anomalies (CULA) based on the newly proposed Oberg, Manske, and Tonkin (OMT) classification, to compare this classification with the International Federation of Societies for Surgery of the Hand (IFSSH) classification, and to provide incidence rates of the different CULA. In this study, the same 562 individuals with a CULA who were analyzed in a previous epidemiologic study based on the IFSSH classification were reclassified according to the OMT classification. All children identified with CULA and born in Stockholm County between January 1, 1997 and December 31, 2007 were included in the study. During the period there were 261,914 live births in Stockholm County, and the population of Stockholm County was 1,949,516 inhabitants at the end of the period. From medical records and available radiographs, all cases were analyzed regarding type of CULA, sex, affected side, associated nonhand anomalies, and occurrence among relatives. Individuals with right and left side anomalies belonging to different OMT subgroups were counted as 2 anomalies; thus, the material consisted of 577 CULA in 562 children. It was possible to organize all CULA into the OMT classification. The largest main category was malformations (429 cases), followed by deformations (124 cases), dysplasias (10 cases), and syndromes (14 cases). We present the relation between the IFSSH and OMT classifications, elucidate difficulties within the OMT classification, and propose additions to the classification. This study confirms that the OMT classification is useful and accurate, but also points out difficulties. With further refinements, we regard the OMT classification as a needed and appropriate replacement for the IFSSH classification. Diagnostic III. Copyright © 2014 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  14. Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification.

    PubMed

    Baas, Martijn; Stubbs, Andrew P; van Zessen, David B; Galjaard, Robert-Jan H; van der Spek, Peter J; Hovius, Steven E R; van Nieuwenhoven, Christianne A

    2017-07-01

    Congenital upper-limb anomalies (CULA) can present as a part of a syndrome or association. There is a wide spectrum of CULA, each of which might be related to different diseases. The structure provided by the Oberg, Manske, and Tonkin (OMT) classification could aid in differential diagnosis formulation in patients with CULA. The aims of this study were to review the Human Phenotype Ontology (HPO) project database for diseases and causative genes related to the CULA described in the OMT classification and to develop a methodology for differential diagnosis formulation based on the observed congenital anomalies, CulaPhen. We reviewed the HPO database for all diseases, including causative genes related to CULA. All CULA were classified according to the OMT classification; associated non-hand phenotypes were classified into 12 anatomical groups. We analyzed the contribution of each anatomical group to a given disease and developed a tool for differential diagnosis formulation based on these contributions. We compared our results with cases from the literature and with a current HPO tool, Phenomizer. In total, 514 hand phenotypes were obtained, 384 of which could be classified in the OMT classification. A total of 1,403 diseases could be related to those CULA. A comparison with 10 recently published cases with CULA revealed that the presented phenotype matched the descriptions in our dataset. The differential diagnosis produced using our methodology was more accurate than Phenomizer in 4 of 5 examples. The OMT classification can be used to describe hand anomalies that may present in over 1,400 diseases. CulaPhen was developed to provide a (hand) phenotype-based differential diagnosis. Differential diagnosis formulation based on the proposed system outperforms the system in current use. This study illustrates that the OMT diagnoses, either individually or combined, can be cross-referenced with different diseases and syndromes. Therefore, use of the OMT classification can

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

    PubMed

    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.

  16. Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.

    PubMed

    Tos, T; Karaman, A; Aksoy, A; Tukun, A

    2012-01-01

    Chromosomal abnormalities are a major cause of mental retardation and/or multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. The objective of this study was to report standard chromosome analysis and FISH screening of a series of 24 patients with MCA/MR. Structural chromosomal abnormalities were detected in 24 alterations and included 5 deletions, 2 duplications, 6 unbalanced translocations, 3 inversions, 2 insertions, 3 derivative chromosomes, 2 marker chromosomes and 1 isochromosome. We confirm that a high percentage of MCA/MR cases hitherto considered idiopathic is caused by chromosomal imbalances. We conclude that patients with MCA/MR should be routinely karyotyped.

  17. Parenting an infant with a congenital anomaly: how are perceived burden and perceived personal benefits related to parenting stress?

    PubMed

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

    2015-03-01

    This study aimed to characterize parents' negative (perceived burden) and positive (perceived personal benefits) perceptions about parenting an infant with a congenital anomaly (CA), and to investigate their role in parenting stress. Forty-three couples (43 mothers and 36 fathers) whose 6-month-old infants had a CA completed several questionnaires: the Impact on Family Scale-Revised, the Positive Contributions Scale, and the Parenting Stress Index-Short Form. The results showed similarities between maternal and paternal perceptions. For mothers, higher levels of burden and lower levels of personal benefits were found to predict higher levels of parenting stress. For fathers, greater burden was associated with higher levels of parenting stress. Some dimensions of personal benefits moderated the relationship between burden and parenting stress, for both genders. Specific strategies targeting negative and positive perceptions should be considered when developing psychological interventions to promote the family's adaptation to the experience of parenting an infant with a CA.

  18. True oblique axis fracture associated with congenital anomalies of the upper cervical spine: Case report of an unusual fracture pattern

    PubMed Central

    Robles, Luis A.

    2017-01-01

    Background: Acute traumatic axis fractures are common cervical spine injuries often caused by road accidents or falls. They are usually classified into three different types, namely, odontoid fractures, Hangman's fractures, and miscellaneous fractures. Congenital malformations of the craniovertebral junction (CVJ), although typically asymptomatic, may result in neural compression or instability, especially following trauma. Here, the authors present an unusual oblique axis fracture occurring in conjunction with several malformations of the upper cervical spine. Case Description: Following a motor vehicle accident, a 25-year-old female's radiographic studies showed an oblique axis fracture involving both the anterior and posterior elements along with an anterior and posterior Klippel–Feil syndrome (KFS) anomaly. Following treatment in a halo vest, the patient maintained alignment, and ultimately the fracture was fused. Conclusions: True oblique fractures of the axis are rare, as in the case presented, and may occasionally occur in conjunction with KFS of the upper cervical spine. PMID:28217386

  19. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p

    SciTech Connect

    Leichtman, L.G.; Zackowski, J.L.; Storto, P.D.; Newlin, A.

    1996-06-14

    Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.

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

    ERIC Educational Resources Information Center

    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…

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

    ERIC Educational Resources Information Center

    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…

  2. Congenital scoliosis in non-identical twins: case reports and literature review

    PubMed Central

    Greenwood, Dean; Bogar, William

    2014-01-01

    Congenital scoliosis due to vertebral anomalies may occur in less than 0.1% of the population. Several different theories have been put forth in the literature to account for the etiology of congenital scoliosis and the vertebral anomalies which contribute to its development. The study of scoliosis in twins has contributed to the understanding of causative factors including genetics, environment and in utero events during embryologic development. Case reports of fraternal (non-identical) juvenile male twins with congenital scoliosis associated with differing congenital vertebral anomalies are presented. Both children were asymptomatic at the time of the initial consultation and showed no signs of neurologic compromise. Rapidly progressive, severe genetic scoliosis requires prudent observation and referral to a pediatric orthopedic surgeon to determine appropriate options for care and to screen for potentially life threatening disorders. Chiropractors may be seen as gatekeepers for scoliosis and a thorough understanding of appropriate standards of care is required. PMID:25202158

  3. Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

    PubMed

    Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

    2013-10-15

    Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted.

  4. Studies of the development of congenital anomalies in rats. III. Effects of inhibition of mitochondrial energy systems on embryonic development.

    PubMed

    Mackler, B; Grace, R; Tippit, D F; Lemire, R J; Shepard, T H; Kelley, V C

    1975-12-01

    Pregnant rats were treated with various inhibitors of mitochondrial oxidative energy metabolism and with lowered oxygen tension, and the embryo fetuses examined for the occurrence of congenital malformations and for changes in enzymatic activities. Treatment with all agents tested resulted in the production of skeletal anomalies. Sodium phenobarbital was the most teratogenic of the drugs tested and produced a high incidence of malformations which included cleft palate, tail anomalies, spinal retroflexion, domed head, and facial hypoplasia. Diphenylhydantoin produced a low incidence of syndactyly and oligodactyly. In addition to its effects on fetal growth and development chloramphenicol appeared to interfere with implantation. Tissue preparations from embryos exposed to sodium phenobarbital and chloramphenicol showed markedly lowered levels of DPNH oxidase activity. Cytochrome oxidase activity was also markedly lowered in the preparations from chloramphenicol-exposed embryos. Enzyme activities in preparations from embryos exposed to malonate and diphenylhydantoin appeared unaffected, although the drugs are strong inhibitors of electron transport in vitro; the lack of apparent effect may be due to the fact that both drugs do not bind to the enzyme preparations and were diluted 100- to 200-fold during preparation and assay of the tissue homogenates.

  5. Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly.

    PubMed Central

    Jordan, T; Ebenezer, N; Manners, R; McGill, J; Bhattacharya, S

    1997-01-01

    Familial glaucoma iridogoniodysplasia (FGI) is a form of open-angle glaucoma in which developmental anomalies of the iris and irido-corneal angle are associated with a juvenile-onset glaucoma transmitted as an autosomal dominant trait. A single large family with this disorder was examined for genetic linkage to microsatellite markers. A peak LOD score of 11.63 at a recombination fraction of 0 was obtained with marker D6S967 mapping to chromosome 6p25. Haplotype analysis places the disease gene in a 6.4-cM interval between the markers D6S1713 and D6S1600. Two novel clinical appearances extend the phenotypic range and provide evidence of variable expressivity. The chromosome 6p25 region is now implicated in FGI, primary congenital glaucoma, and iridogoniodysgenesis anomaly. This may indicate the presence of a common causative gene or, alternatively, a cluster of genes involved in eye development/function. Images Figure 2 PMID:9382099

  6. Incidental imaging findings of congenital rib abnormalities - a case series and review of developmental concepts.

    PubMed

    Aignătoaei, Anda Maria; Moldoveanu, Cristina Elena; Căruntu, Irina Draga; Giușcă, Simona Eliza; Partene Vicoleanu, Simona; Nedelcu, Alin Horațiu

    2017-09-04

    Congenital rib abnormalities are found in approximately 2% of the general population. Usually, they occur in isolation, when they are rarely symptomatic, but they can also associate with other malformations. We reviewed imaging examinations performed over a period of two years (2014-2015), enabling us to identify isolated rib abnormalities in six adult patients. The case series consisted in three cases with bilateral cervical ribs and one case each with bifid rib, costal fusion and rib pseudarthrosis. In all patients, the costal anomalies were discovered incidentally. All rib malformations were detected at thoracic radiography, except for the rib pseudarthrosis, which was identified at CT scan. Differential diagnosis was made between cervical ribs and abnormalities of the C7 transverse process and of the first rib, while the other costal malformations were distinguished from tumoral, traumatic or inflammatory lesions of the chest wall, lung and pleura. Considering the existing knowledge on rib development, we suggest a classification of the most common types of rib malformations in three categories: (I) results of homeotic transformation, referring to numerical aberrations; (II) segmentation errors, including costal fusion and bridging; (III) anomalies of resegmentation, resulting in bifid ribs. It is important that radiologists are familiarized with the imaging features of rib abnormalities, since these anomalies can be misinterpreted as lesions with different implications. We aim that the developmental classification proposed in this paper can contribute to a better understanding of this pathology.

  7. [Congenital anomalies of the kidney and urinary tract. A vision for the paediatrician].

    PubMed

    Palacios Loro, M L; Segura Ramírez, D K; Ordoñez Álvarez, F A; Santos Rodríguez, F

    2015-12-01

    The congenital abnormalities of kidney and urinary tract (CAKUT) are disorders with a high prevalence in the general population, with urinary tract dilations being the most frequent. CAKUT also account for the most important cause of chronic kidney disease in childhood. This paper focuses on the role of the primary care paediatrician in the diagnosis, assessment, and follow-up of children with CAKUT, with special emphasis on the associated urinary tract infections, the progression toward chronic renal failure, and the genetic basis. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  8. Agenesis of the lung--a rare congenital anomaly of the lung.

    PubMed

    De, Arun

    2013-01-01

    Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of chronic lung infection for any congenital abnormality of the lung including aplasia of the lung. This case also emphasizes that mildness of the attack does not exclude right sided aplasia of the lung.

  9. Patient selection in congenital pyriform aperture stenosis repair - 14 year experience and systematic review of literature.

    PubMed

    Gonik, Nathan J; Cheng, Jeffrey; Lesser, Martin; Shikowitz, Mark J; Smith, Lee P

    2015-02-01

    Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of respiratory distress in neonates that may necessitate early surgical intervention. Restenosis and granulation are postoperative concerns that may prompt a return to the operating room. Reoperation places children at increased risk of perioperative complications and prolonged hospital stays. We are presenting a review of our institutional experience of 16 patients treated for CNPAS over a 14 year period and a systematic review with pooled data analysis to determine the effect of craniofacial and neurologic anomalies on surgical success. Retrospective chart review of all cases of CNPAS treated at our tertiary children's hospital between 1999 and 2013. Systematic review of English language literature was conducted adhering to the PRISMA statement to determine the effect of neurologic anomalies and craniofacial dysmorphism (CFD) on surgical failure for CNPAS treatment. Univariate and exact multiple logistic regression were used for analysis of an individual patient data analysis. 10 patients had surgery and 6 were treated medically. Average pyriform apertures were 5.71±1.72mm for the surgical group and 4.83±1.26mm for the medical group (p=0.38). 31% had neurological impairments. 31% had craniofacial dysmorphisms (CFD). 2 patients developed restenosis and 1 required tracheotomy. Both of these patients had other CFDs. Literature review captured 63 surgical patients and 9 failures in 6 series of CNPAS. 4.6% of patients without CFD and 36.8% of patients with CFD required surgical revision (p=0.023, OR13.8). When repairing CNPAS, co-morbidities must be considered. Impaired respiration, central neurologic deficits and extensive craniofacial anomalies may require additional surgeries or an alternative approach. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  10. Congenital cardiac anomalies in relation to water contamination, Santa Clara County, California, 1981-1983

    SciTech Connect

    Swan, S.H.; Shaw, G.; Harris, J.A.; Neutra, R.R.

    1989-05-01

    In November 1981, a leak of solvents from an underground storage tank was detected at an electronics manufacturing plant in Santa Clara County, California. Solvents (predominantly 1,1,1-trichloroethene, or methyl chloroform) were found in a nearby well which supplied drinking water to the surrounding community. Residents were concerned about a possible relation between adverse reproductive outcomes and consumption of contaminated water. To address this concern, the California Department of Health Services conducted two epidemiologic studies: one of these, reported here, is a county-wide study of cardiac anomalies. This study, which looked at major cardiac anomalies among births throughout Santa Clara County in 1981-1983, found an increased prevalence in the service area of the water company which operated the contaminated well. During the potentially exposed time period (January 1981 through August 1982), 12 babies with major cardiac anomalies were born to residents of this area. This represents an excess of six cases over the number expected based on the prevalence in the remainder of the county (relative risk = 2.2, 95 per cent confidence interval 1.2-4.0). No excess was observed in the unexposed time period (September 1982 through December 1983). However, the temporal distribution of major cardiac cases born during the exposed time period suggests that the solvent leak is an unlikely explanation for this excess.

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

    PubMed

    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

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

    PubMed Central

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

    2016-01-01

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

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

    SciTech Connect

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

    1983-01-01

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

  14. Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance.

    PubMed

    Karim, J N; Roberts, N W; Salomon, L J; Papageorghiou, A T

    2017-10-01

    To determine the sensitivity and specificity of first-trimester ultrasound for the detection of fetal abnormalities and to establish which factors might impact on screening performance. A systematic review and meta-analysis of all relevant publications was performed to assess the diagnostic accuracy of two-dimensional transabdominal and transvaginal ultrasound in the detection of congenital fetal anomalies prior to 14 weeks' gestation. The reference standard was detection of abnormalities at birth or postmortem. Factors that may impact on detection rates were evaluated, including population characteristics, gestational age, healthcare setting, ultrasound modality, use of an anatomical checklist for detection of first-trimester anomalies and type of malformation included in the study. In an effort to reduce the impact of study heterogeneity on the results of the meta-analysis, data from the studies were analyzed within subgroups of major anomalies vs all types of anomaly and low-risk/unselected populations vs high-risk populations. An electronic search (until 29 July 2015) identified 2225 relevant citations, from which a total of 30 studies, published between 1991 and 2014, were selected for inclusion. The pooled estimate for the detection of major abnormalities in low-risk or unselected populations (19 studies, 115 731 fetuses) was 46.10% (95% CI, 36.88-55.46%). The detection rate for all abnormalities in low-risk or unselected populations (14 studies, 97 976 fetuses) was 32.35% (95% CI, 22.45-43.12%), whereas in high-risk populations (six studies, 2841 fetuses) it was 61.18% (95% CI, 37.71-82.19%). Of the factors examined for their impact on detection rate, there was a statistically significant relationship (P < 0.0001) between the use of a standardized anatomical protocol during first-trimester anomaly screening and its sensitivity for the detection of fetal anomalies in all subgroups. Detection rates of first-trimester fetal anomalies ranged from 32

  15. Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.

    PubMed

    Chen, C-P; Lin, S-P; Su, Y-N; Chien, S-C; Tsai, F-J; Wang, W

    2008-01-01

    Pfeiffer syndrome (OMIM 101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, ocular proptosis and digital malformations. We report on a type II Pfeiffer female infant with craniosynostosis, hydrocephalus, and characteristic craniofacial and digital abnormalities. The patient had a history of airway difficulty. Bronchoscopy at age four months revealed low tracheal stenosis and fibrous cartilaginous rings. She underwent tracheostomy for the treatment of cyanotic episodes. Molecular analysis revealed a de novo missense mutation c.870 G>T (TGG>TGT) in the FGFR2 gene that predicts a substitution of cysteine for tryptophan at the codon 290, (W290C). There is phenotypic heterogeneity of tracheal anomalies due to FGFR2 mutations. A review of the literature shows that Pfeiffer patients with the similar tracheal abnormalities can be caused by different FGFR2 mutations and, likewise, the patients with the same FGFR2 mutation may manifest different kinds of tracheal anomalies. Tracheal anomalies may occur in Pfeiffer patients and cause morbidity and mortality because of airway obstruction. Recognition and detailed evaluation of tracheal anomalies should be included in the early diagnostic workup for severe Pfeiffer patients.

  16. Delayed Case of Congenital Bilateral Trigger Thumb: A Case Report and Review of Literature

    PubMed Central

    Rekha, Y Bhanu

    2014-01-01

    Introduction: Congenital trigger thumb is an uncommon anomaly of children. Its management is controversial, ranging from observation to extensive surgical release. We report a case of delayed presentation of bilateral trigger thumb along with a brief review of past literature. Case Report: A six year old girl presented with fixed flexion deformity of interphalangeal joints of both thumbs and Notta’s nodules. It is diagnosed as trigger thumb and release of bilateral A1pulleys is done. But we found another constricting annular pulley just distal to A1. Only after splitting the distal pulley, we could get complete extension of interphalangeal joints. At two years follow-up, the child is free of complications. Conclusion: Splitting of A1 pulley alone may not be sufficient in few cases of trigger thumb which may require distal release too PMID:27298940

  17. Duplicated, translocated maxilla and upper lip: a case report of a rare congenital anomaly.

    PubMed

    Mohamed El-Massry, Mohamed Abd El Kariem; Ali, Tamer Sabry; Hussain, Ahmed Ibrahim; Dashty, Fatima

    2011-03-01

    A 3-month-old male patient presented to the maxillofacial department in Al-Amiri Dental Center, Kuwait, with a facial deformity. There was no family history of any systemic illness or abnormalities nor consanguinity. On examination; the patient had a transverse incomplete facial cleft on the right cheek, the maxilla and the upper lip were duplicated and translocated to the right lower jaw and lip, with all components of mucosa as well as a complete compliment of deciduous teeth. There was unilateral macrosomia as well as cleft of the secondary palate and triple uvulae. The mandible had restricted mobility. Photographs and a Computerized Axial tomogram (CAT scan) were taken and a complete work up to exclude congenital cardiac disease was also done. The surgical approach, and possible future operations were explained in detail and discussed with the parents. Their consent was taken. Copyright © 2010 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  18. Congenital coronary artery anomalies silent until geriatric age: non-invasive assessment, angiography tips, and treatment

    PubMed Central

    Rigatelli, Gianluca; Dell'Avvocata, Fabio; Van Tan, Nguyen; Daggubati, Rames; Nanijundappa, Aravinda

    2015-01-01

    Coronary artery anomalies (CAAs) may be discovered more often as incidental findings during the normal diagnostic process for other cardiac diseases or less frequently on the basis of manifestations of myocardial ischemia. The cardiovascular professional may be involved in their angiographic diagnosis, functional assessment and eventual endovascular treatment. A complete angiographic definition is mandatory in order to understand the functional effects and plan any intervention in CAAs: computed tomography and magnetic resonance imaging are useful non-invasive tools to detect three-dimensional morphology of the anomalies and its relationships with contiguous cardiac structures, whereas coronary arteriography remains the gold standard for a definitive anatomic picture. A practical idea of the possible functional significance is mandatory for deciding how to manage CAAs: non-invasive stress tests and in particular the invasive pharmacological stress tests with or without intravascular ultrasound monitoring can assess correctly the functional significance of the most CAAs. Finally, the knowledge of the particular endovascular techniques and material is of paramount importance for achieving technical and clinical success. CAAs represent a complex issue, which rarely involve the cardiovascular professional at different levels. A timely practical knowledge of the main issues regarding CAAs is important in the management of such entities. PMID:25678906

  19. Genetics of Congenital Heart Disease: Past and Present.

    PubMed

    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.

  20. AB024. Chromosome microarray analysis (CMA) for the diagnosis of children with developmental delay and multiple congenital anomalies in Singapore

    PubMed Central

    Law, Hai-Yang; Brett, Maggie; Tan, Ene-Choo; Yong, Min-Hwee; Lai, Angeline

    2015-01-01

    Chromosome microarray analysis (CMA) is a sensitive method to identify submicroscopic changes too small to be detected by conventional karyotyping. Due to its high-sensitivity in identifying regions with structural variation and hence the genes involved, it is recommended to be the first-tier genetic test for children with intellectual disabilities, development delay or multiple congenital anomalies, and is routinely available in USA and many countries in Europe. Our lab has started offering this as a clinical test based on the research experience on screening >400 children with developmental delay and multiple congenital anomalies since February 2014. To date, 271 patients have been screened using the Agilent 4×180K CGH + SNP array. Copy number variants (CNVs) ranging in size from 10 kb to 154 Mb were found in 109 patients (40%). Pathogenic and likely pathogenic CNVs were found in 55 (20%). These included 45 with deletions, 8 with duplications and 2 patients with both deletion and duplication. Recurrent microdeletion and microduplication syndromes including the Angelman/Prader-Willi syndrome [5], 1p36 microdeletion [3], Williams syndrome [2], 22q11.2 distal deletion syndrome [2], 16p13.3 microdeletion syndrome [2], Cat Eye syndrome, Cri du Chat syndrome, Miller Decker syndrome, 3q29 microdeletion, 15q24 microdeletion, and 1q43q44 syndrome were among the variants detected in our patients. CNVs of uncertain clinical significance were detected in 54 (20%) individuals: 32 were duplications, 18 were deletions and one with both deletion and duplication. However, due to the high cost of the test, parental testing was not performed and hence, significance of these variants could not be established conclusively. In conclusion, CMA is a powerful tool in identifying pathogenic chromosomal copy number alternations. However, due to the high cost of the test, parental testing for the cases where variants of uncertain significant are found is often not possible. CMA is useful

  1. Vascular anomalies: A pictorial review of nomenclature, diagnosis and treatment

    PubMed Central

    Nosher, John L; Murillo, Philip G; Liszewski, Mark; Gendel, Vyacheslav; Gribbin, Christopher E

    2014-01-01

    Vascular anomalies, including vascular malformations and tumors, are frequently straightforward to detect; however, accurate diagnosis and appropriate treatment are often challenging. Misdiagnosis of these lesions can lead clinicians in the wrong direction when treating these patients, which can have unfavorable results. This review presents an overview of the classification systems that have been developed for the diagnosis of vascular lesions with a focus on the imaging characteristics. Pictorial examples of each lesion on physical examination, as well as non-invasive and minimally invasive imaging are presented. An overview of the endovascular treatment of these lesions is also given. In some cases, vascular anomalies may be associated with an underlying syndrome and several of the most commonly encountered syndromes are discussed. Understanding of the classification systems, familiarity with the treatment options and knowledge of the associated syndromes are essential for all physicians working with this patient population. The approach to the described entities necessitates an organized multi-disciplinary team effort, with diagnostic imaging playing an increasingly important role in the proper diagnosis and a combined interventional radiologic and surgical treatment method showing promising results. PMID:25276311

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

    PubMed Central

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

    2012-01-01

    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 cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5–92%) and the prevalence of RCA (range 2.4–12.9/10 000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care. PMID:22234154

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

    PubMed

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

    2012-05-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

  4. Unusual trend in the prevalence of trisomy 13 in mothers aged 35 and older: A population based study of national congenital anomaly data.

    PubMed

    Nair, Deepa Balachandran; Tucker, David; Hughes, Rhian; Greenacre, Judith; Morgan, Margery

    2015-07-01

    Trisomy 13 is one of the three autosomal trisomies compatible with viability. It is associated with structural anomalies, learning disability and poor survival. Advanced maternal age is the most frequently suggested risk factor. This is a population based register study to investigate the temporal trends of trisomy 13. Chromosomal trisomies were reviewed by the Welsh Congenital Anomaly Register using data from 1998-2012. All pregnancy outcomes were included. Prevalence rates and trends for all cases and for cases with mothers aged below 35 years and those aged 35 years and older were plotted for trisomy 13, 18 and 21. Possible risk factors contributing to the trend in older mothers were compared in the early and late period of the study. There were 124 cases of trisomy 13 over the 15 year period with 55 mothers aged 35 years and older. Overall prevalence was 2.5 per 10,000 total births. A significant declining trend in the prevalence of trisomy 13 in mothers aged 35 and older (χ(2) trend = 4.98, p=0.026) was noted. Rates for younger mothers were lower and remained stable. Prevalence of trisomy 18 and 21 in older mothers remained stable. The unexpected declining trend in trisomy 13 in older mothers could not be explained by the risk factors examined in this study. There have been no other reports of trends in the prevalence of trisomy 13 in older mothers in recent years. There is further need for surveillance of trends in future and in other populations. © 2015 Wiley Periodicals, Inc.

  5. Parental psychological distress and confidence after an infant's birth: the role of attachment representations in parents of infants with congenital anomalies and parents of healthy infants.

    PubMed

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

    2013-06-01

    The present study aimed to examine parental psychological distress and confidence after an infant's birth, when parenting an infant with a diagnosis of a congenital anomaly, and to understand the role of attachment representations on parental adjustment. Parents of infants with a congenital anomaly (44 couples) and parents of healthy infants (46 couples) completed measures of adult attachment representations and of psychological distress and parental confidence (one month after the infant's birth). Results showed no group differences in psychological distress. Mothers in the clinical group presented lower confidence than mothers in the comparison group, while for fathers the inverse pattern was found, showing their involvement in the caretaking of the infant. Insecure attachment representations predicted parental psychological distress, and a moderator role of group was found only for fathers. These results highlight the role of secure attachment representations as an individual resource in stress-inducing situations.

  6. Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome?

    PubMed

    Hastings, Rob; Harding, David; Donaldson, Alan; Liebling, Rachel; Hayes, Alison; Kraus, Alison; Joss, Shelagh; Narayanaswamy, Shuba; Turnpenny, Peter; Smithson, Sarah

    2009-12-01

    In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial lung agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of lung agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini-Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder.

  7. A review of the economics of adult congenital heart disease.

    PubMed

    Seckeler, Michael D; Thomas, Ian D; Andrews, Jennifer; Joiner, Keith; Klewer, Scott E

    2016-01-01

    Adults living with congenital heart disease (CHD) now outnumber children with the disease. Thanks to medical advances over the past 75 years, many of these fatal childhood heart problems have changed to chronic medical conditions. As the population of adults with CHD increases, they will require increasingly complex medical, surgical and catheter-based therapies. In addition, social burdens including education, employment and insurability, which increase the societal costs of adult CHD, are now being recognized for adults living with CHD. This review summarizes the available literature on the economics of adult CHD.

  8. Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

    PubMed

    Novo-Filho, Gil M; Montenegro, Marília M; Zanardo, Évelin A; Dutra, Roberta L; Dias, Alexandre T; Piazzon, Flavia B; Costa, Taís V M M; Nascimento, Amom M; Honjo, Rachel S; Kim, Chong A; Kulikowski, Leslie D

    2016-01-01

    The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14.3%), including 8 patients with subtelomeric deletions at 4p/4q (53.3%). Additional genomic changes were observed at 1p36, 2q37.3, 5p15.3, 5q35.3, 8p23.3, 13q11, 14q32.3, 15q11.2, and Xq28/Yq12. This indicates the prevalence of independent deletions at 4p/4q, involving PIGG, TRIML2, and FRG1. Furthermore, we identified 15 genes with changes in copy number that contribute to neurological development and/or function, among them CRMP1, SORCS2, SLC25A4, and HELT. Our results highlight the association of genes with changes in copy number at 4p and 4q subtelomeric regions and the DD phenotype. Cytogenomic characterization of additional cases with distal deletions should help clarifying the role of subtelomeric CNVs in neurological diseases.

  9. Parents' perceptions of counselling following prenatal diagnosis of congenital anomalies of the kidney and urinary tract: a qualitative study.

    PubMed

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

    2017-03-01

    To explore parents' experiences of counselling after prenatal diagnosis of congenital anomalies of the kidney and urinary tract. Parents of a child born between September 2012 and March 2015 with posterior urethral valves (PUV) or multicystic dysplastic kidney (MCDK) completed a semi-structured telephone interview, demographic survey, and the 21-item self-report Depression, Anxiety and Stress Scales questionnaire. Qualitative data were analysed thematically using NVivo10 software. In all, 17 parents (PUV, eight; MCDK, nine) participated (response rate 40%), and most were offered counselling during pregnancy (14/17). Parents described feelings of shock, fear and uncertainty after diagnosis, and desired early information on all aspects of their child's condition. Most participants were satisfied with the information received; however, unmet information needs relating to treatment and prognosis were identified, particularly amongst fathers and parents in the PUV group. Some parents felt relieved after counselling (12/17); however, emotional distress often persisted long after diagnosis. Parents described a need for written and web-based information resources, specialised psychological services, and parent support groups. While parents valued counselling, many continued to report unmet informational and psychological needs. Early counselling addressing topics important to parents and provision of additional resources and support services may improve parents' adjustment to their baby's diagnosis. © 2016 The Authors BJU International © 2016 BJU International Published by John Wiley & Sons Ltd.

  10. Radiation induced cutaneous ulcer on the back in a patient with congenital anomaly of the upper cava system.

    PubMed

    Jeskowiak, Antonia; Hubmer, Martin; Prenner, Guenther; Maechler, Heinrich

    2011-02-01

    Recent years have seen the introduction of a number of additive diagnostic and therapeutic procedures in invasive cardiology. Cardiac catheterization procedures using fluoroscopy reduce patient morbidity and mortality compared to conventional surgical interventions. The associated radiation exposure for the patient is, however, often underestimated, while implantation of cardiac resynchronization therapy (CRT) and/or implantable cardioverter defibrillator (ICD) pacemaker systems sometimes entails even higher radiation exposures due to prolonged fluoroscopic studies. Radiation induced skin injuries including ulceration are mainly dose dependent effects of ionizing radiation and can be acute, subacute or chronic. The time between radiation exposure and manifestation of skin injuries varies greatly, from a few days up to months or even years. We report a 54-year-old male patient who presented to the Department of Dermatology in the year 2006, with erythema in the interscapular area associated with occasional pruritus. His medical report included several diagnostic cardiac catheterization procedures. Several attempts to implant CRT and ICD had failed owing to an undetected congenital anomaly of the upper vena cava system; these attempts had entailed prolonged fluoroscopy. The patient's history, clinical presentation and histopathological findings finally led to the diagnosis of radiation induced cutaneous ulcer.

  11. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

    PubMed

    Kohl, Stefan; Hwang, Daw-Yang; Dworschak, Gabriel C; Hilger, Alina C; Saisawat, Pawaree; Vivante, Asaf; Stajic, Natasa; Bogdanovic, Radovan; Reutter, Heiko M; Kehinde, Elijah O; Tasic, Velibor; Hildebrandt, Friedhelm

    2014-09-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% of children with ESRD in the United States. Hitherto, mutations in 23 genes have been described as causing autosomal dominant isolated CAKUT in humans. However, >90% of cases of isolated CAKUT still remain without a molecular diagnosis. Here, we hypothesized that genes mutated in recessive mouse models with the specific CAKUT phenotype of unilateral renal agenesis may also be mutated in humans with isolated CAKUT. We applied next-generation sequencing technology for targeted exon sequencing of 12 recessive murine candidate genes in 574 individuals with isolated CAKUT from 590 families. In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme. We show that isolated CAKUT may be caused partially by mutations in recessive genes. Our results also indicate that biallelic missense mutations in the Fraser/MOTA/BNAR spectrum genes cause isolated CAKUT, whereas truncating mutations are found in the multiorgan form of Fraser syndrome. The newly identified recessive biallelic mutations in these six genes represent the molecular cause of isolated CAKUT in 2.5% of the 590 affected families in this study. Copyright © 2014 by the American Society of Nephrology.

  12. A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data.

    PubMed

    Langlois, Peter H; Moffitt, Karen B; Scheuerle, Angela E

    2014-09-01

    Since 1983, several authors have used panels of "sentinel" congenital anomalies that might serve as indicators of the human genome mutation rate. The current study suggests a considerably updated panel, and applies it to public health birth defects registry data to determine the potential number of de novo cases. Data were taken from deliveries in 1999-2009 from the Texas Birth Defects Registry, an active surveillance program. Cases with one of the conditions or syndromes in the panel were identified using codes and text searches. Frequencies and birth prevalence were calculated for the overall panel and subcategories within it. Of the 60 conditions appearing in previous papers on sentinel phenotypes, 21 (35%) were used in the current study along with 27 new phenotypes. We found 1,694 cases. Of those, 1,100 exhibited phenotypes thought to arise de novo in at least 90% of the cases ("all/almost all" subpanel), and 594 considered de novo in roughly 50-90% of cases ("most" subpanel). Chromosomal deletion disorders were present in 523 cases and imprinting disorders in 243. After adjusting for maternal age, occurrence of cases in the total panel, "most" subpanel, and imprinting disorders subpanel were significantly associated with paternal age. Our panel of sentinel phenotypes differs from previous panels due to evolved knowledge of genetic disorders, different approaches with respect to interviewing, and different operational definitions. It is hoped that using an overall panel as well as subpanels may maximize statistical power as well as suggest potential mechanisms.

  13. Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

    PubMed

    Ashraf, Shazia; Hoskins, Bethan E; Chaib, Hassan; Hoefele, Julia; Pasch, Andreas; Saisawat, Pawaree; Trefz, Friedrich; Hacker, Hans W; Nuernberg, Gudrun; Nuernberg, Peter; Otto, Edgar A; Hildebrandt, Friedhelm

    2010-05-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT. We here report a genome-wide search for linkage in a large pedigree of Somalian descent containing eight affected individuals with a non-syndromic form of CAKUT. Clinical data and blood samples were obtained from a Somalian family with eight individuals with CAKUT including high-grade vesicoureteral reflux and unilateral renal agenesis. Total genome search for linkage was performed using a 50K SNP Affymetric DNA microarray. As neither parent is affected, the results of the SNP array were analysed under recessive models of inheritance, with and without the assumption of consanguinity. Using the non-consanguineous recessive model, a new gene locus (CAKUT1) for CAKUT was mapped to chromosome 8q24 with a significant maximum parametric Logarithm of the ODDs (LOD) score (LOD(max)) of 4.2. Recombinations were observed in two patients defining a critical genetic interval of 2.5 Mb physical distance flanked by markers SNP_A-1740062 and SNP_A-1653225. We have thus identified a new non-syndromic recessive gene locus for CAKUT (CAKUT1) on chromosome 8q24. The identification of the disease-causing gene will provide further insights into the pathogenesis of urinary tract malformations and mechanisms of renal development.

  14. Equine Multiple Congenital Ocular Anomalies and Silver Coat Colour Result from the Pleiotropic Effects of Mutant PMEL

    PubMed Central

    Andersson, Lisa S.; Wilbe, Maria; Viluma, Agnese; Cothran, Gus; Ekesten, Björn; Ewart, Susan; Lindgren, Gabriella

    2013-01-01

    Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic cause of MCOA syndrome we sequenced the entire previously characterized 208 kilobase region on chromosome 6 in ten individuals; five MCOA affected horses from three different breeds, one horse with the intermediate Cyst phenotype and four unaffected controls from two different breeds. This was performed using Illumina TruSeq technology with paired-end reads. Through the systematic exclusion of all polymorphisms barring two SNPs in PMEL, a missense mutation previously reported to be associated with the silver coat colour and a non-conserved intronic SNP, we establish that this gene is responsible for MCOA syndrome. Our finding, together with recent advances that show aberrant protein function due to the coding mutation, suggests that the missense mutation is causative and has pleiotrophic effect, causing both the horse silver coat color and MCOA syndrome. PMID:24086599

  15. Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.

    PubMed

    Andersson, Lisa S; Wilbe, Maria; Viluma, Agnese; Cothran, Gus; Ekesten, Björn; Ewart, Susan; Lindgren, Gabriella

    2013-01-01

    Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic cause of MCOA syndrome we sequenced the entire previously characterized 208 kilobase region on chromosome 6 in ten individuals; five MCOA affected horses from three different breeds, one horse with the intermediate Cyst phenotype and four unaffected controls from two different breeds. This was performed using Illumina TruSeq technology with paired-end reads. Through the systematic exclusion of all polymorphisms barring two SNPs in PMEL, a missense mutation previously reported to be associated with the silver coat colour and a non-conserved intronic SNP, we establish that this gene is responsible for MCOA syndrome. Our finding, together with recent advances that show aberrant protein function due to the coding mutation, suggests that the missense mutation is causative and has pleiotrophic effect, causing both the horse silver coat color and MCOA syndrome.

  16. Application of prospective ECG-gated high-pitch 128-slice dual-source CT angiography in the diagnosis of congenital extracardiac vascular anomalies in infants and children.

    PubMed

    Nie, Pei; Yang, Guangjie; Wang, Ximing; Duan, Yanhua; Xu, Wenjian; Li, Haiou; Cao, Ting; Liu, Xuejun; Ji, Xiaopeng; Cheng, Zhaoping; Wang, Anbiao

    2014-01-01

    To investigate the value of prospective ECG-gated high-pitch 128-slice dual-source CT (DSCT) angiography in the diagnosis of congenital extracardiac vascular anomalies in infants and children in comparison with transthoracic echocardiography (TTE). Eighty consecutive infants or children clinically diagnosed of congenital heart disease and suspected with extracardiac vascular anomaly were enrolled, and 75 patients were finally included in this prospective study. All patients underwent prospective ECG-gated high-pitch DSCT angiography after TTE with an interval of 1-7 days. The diagnostic accuracy and sensitivity of high-pitch DSCT angiography and TTE were compared according to the surgical/CCA findings. The image quality of DSCT was assessed using a five-point scale. The effective radiation dose (ED) was calculated. A total of 17 congenital heart diseases and 162 separate extracardiac vascular anomalies were confirmed by surgical/CCA findings in 75 patients. The diagnostic accuracy of high-pitch DSCT angiography and TTE was 99.67% and 97.89%, respectively. The sensitivity of high-pitch DSCT angiography and TTE was 97.53% and 79.62%, respectively. There was significant difference regarding to the diagnostic accuracy and the sensitivity between high-pitch DSCT angiography and TTE (χ2 = 23.561 and 28.013, P<0.05). The agreement on the image quality scoring of DSCT between the two observers was excellent (κ = 0.81), and the mean score of image quality was 4.1±0.7. The mean ED of DSCT was 0.29±0.08 mSv. Prospective ECG-gated high-pitch 128-slice DSCT angiography with low radiation dose and high diagnostic accuracy has higher sensitivity compared to TTE in the detection of congenital extracardiac vascular anomalies in infants and children.

  17. Congenital anomalies, labor/delivery complications, maternal risk factors and their relationship with perfluorooctanoic acid (PFOA)-contaminated public drinking water.

    PubMed

    Nolan, Lynda A; Nolan, John M; Shofer, Frances S; Rodway, Nancy V; Emmett, Edward A

    2010-04-01

    We have previously examined the associations between perfluorooctanoic acid (PFOA) exposure, birth weight and gestational age in individuals exposed to PFOA-contaminated residential drinking water from the Little Hocking Water Association (LHWA). In this investigation, we expand the scope of our analysis to examine the associations between PFOA, congenital anomalies, labor and delivery complications and maternal risk factors. To compare the likelihood of congenital anomalies, labor and delivery complications and maternal risk factors in neonates and their mothers residing in zip codes with public water service provided completely, partially or not at all by the LHWA. Logistic regression analyses were performed on singleton neonatal birth outcome data supplied by the Ohio Department of Health to examine the associations between LHWA water service category and the outcomes of interest. When possible, models were adjusted for maternal age, preterm birth, neonatal sex, race, maternal education, alcohol use, tobacco use and diabetic status. Increased PFOA exposure, as assessed by water service category, was not associated with an overall increase in the likelihood of congenital anomalies or any specific diagnosis (adjusted OR: 1.4, 95% CI: 0.34-3.3). The overall likelihood of labor and delivery complications was significantly lower among mothers with water service provided by the LHWA, as compared to mothers not serviced by the LHWA (adjusted OR: 0.65, 95% CI: 0.46-0.92). A significant increase in the likelihood of anemia (crude OR: 11, 95% CI: 1.8-64) and dysfunctional labor (crude OR: 5.3, 95% CI: 1.2-24) was noted for mothers residing within zip codes serviced by the LHWA, but the number of reported cases was very small. At the levels measured in the LHWA, we conclude that PFOA is not associated with increased risk of congenital anomalies, most labor and delivery complications and maternal risk factors. Additional research is required to assess the observed

  18. Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies

    PubMed Central

    Bergman, Jorieke E. H.; Oktora, Monika P.; Kerstjens-Frederikse, Wilhelmina S.; Groen, Henk; Bos, Jens H.; Hak, Eelko; Wilffert, Bob

    2017-01-01

    Background 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. Methods 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. Results 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. Conclusions 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. PMID:28288183

  19. Mounier-Kuhn syndrome or congenital tracheobronchomegaly: a literature review.

    PubMed

    Krustins, Eduards; Kravale, Zaiga; Buls, Atis

    2013-12-01

    Mounier-Kuhn syndrome or congenital tracheobronchomegaly is a chronic airway condition which for currently unknown reasons mostly affects males. It is commonly overlooked on conventional chest X-rays, and is considered to be rare, but the prevalence might be higher as commonly assumed. The hallmark of it is a dilatation of the main airways which frequently, but not always, causes marked, mainly respiratory, symptoms, and patients usually present with varying degrees of recurrent infections, breathlessness, haemoptysis, dyspnoea. Although at least 200 case reports have been published, there have been only a few attempts to review them, and none in the last 20 years. Due to the lack of clinical trials and wide variability of case-report format, a systematic review was deemed not feasible, therefore PubMed and Medline databases were searched using terms "Mounier-Kuhn syndrome", "tracheobronchomegaly", "tracheomegaly", and "bronchomegaly", without any time restrictions, to summarize currently known facts about the syndrome. To the authors' best knowledge, the result is currently the most comprehensive review of previously published literature about the congenital tracheobronchomegaly, and summarizes what's known about symptoms, prevalence, disease associations, and treatment options for this syndrome.

  20. Proximal ureteral atresia, a rare congenital anomaly-incidental finding: a case report.

    PubMed

    Bleve, Cosimo; Conighi, Maria Luisa; Fasoli, Lorella; Bucci, Valeria; Battaglino, Francesco; Chiarenza, Salvatore Fabio

    2017-01-01

    Ureteral atresia is a rare disease usually associated with a non-functioning dysplastic kidney. The condition may be unilateral or bilateral; focal, short or long and may involve any part of the ureter. Association with other urinary anomalies is rare. We report the case of a 10-month-old boy with prenatal diagnosis of multicystic right kidney. This suspicion was confirmed after birth by ultrasound and static scintigraphy; a right vesicoureteral reflux (VUR) was recorded at cystography. The boy presented a regular renal function but was hospitalized twice for suspected pyelonephritis between the 8th and the 10th month of life and were recorded occasional mild changes in blood pressure. Antibiotic prophylaxis was administered until surgery. When he was 10-month underwent retroperitoneoscopy to perform a nephroureterectomy finding a complete atresia of the upper third of the ureter with the blind end at the level of the uretero-pelvic-junction. The programmed surgery was performed. By a revision of literature, only few cases of imperforate distal ureter have been described. This condition is associated with a kidney dysplasia. The atresia of the ureter with no signs of infection in the dysplastic kidney may be unknown up to adulthood or throughout one's life. Prognosis usually depends on the severity of the obstruction.

  1. Congenital Malformations of the Inner Ear: Case Series and Review of the Literature.

    PubMed

    Piromchai, Patorn; Kasemsiri, Pornthep; Thanawirattananit, Panida; Yimtae, Kwanchanok

    2015-08-01

    Patients with craniofacial anomalies often present to doctors due to their noticeable disfigurement and are routinely assessed by otolaryngologists for hearing evaluation. However, small percentage of craniofacial anomaly patients may present with delayed speech though they may not have initial obvious external deformation. The objective of case series is to identify the congenital inner ear malformation. The series of clinical presentation, physical examination, investigations, treatments and follow-up results were demonstrated followed by the discussion.

  2. Review on the Management of Primary Congenital Glaucoma

    PubMed Central

    Yu Chan, Julia Yan; Choy, Bonnie NK; Ng, Alex LK

    2015-01-01

    ABSTRACT Despite being documented in medical history from over 2400 years ago, primary congenital glaucoma (PCG), being a disease with low incidence rate, remains a challenge to ophthalmologists. The article provides a broad overview on the pathophysiology and diagnostic approach to PCG with major emphasis on the treatment options of PCG. While reviewing on the well-established treatment options, namely goniotomy, trabeculo-tomy and combined trabeculotomy-trabeculectomy, emphasis has also been made to recent updates on secondary treatments: trabeculectomy, antimetabolites, glaucoma-drainage devices and cyclodestructive procedures. It is, however, important to note that the rarity of PCG places limitations on study design, most studies are, thus, retrospective, nonrandomized and have different definitions of surgical success. Ophthalmologists need to interpret the results with critical thinking and formulate individual treatment plans for each patient. How to cite this article: Yu Chan JY, Choy BNK, Alex LK Ng, Shum JWH. Review on the Management of Primary Congenital Glaucoma. J Curr Glaucoma Pract 2015;9(3):92-99. PMID:26997844

  3. Study of stillbirth and major congenital anomaly among newborns in the high-level natural radiation areas of Kerala, India.

    PubMed

    Jaikrishan, G; Sudheer, K R; Andrews, V J; Koya, P K M; Madhusoodhanan, M; Jagadeesan, C K; Seshadri, M

    2013-01-01

    Monitoring newborns for adverse outcomes like stillbirth and major congenital anomalies (MCA) is being carried out in government hospitals since 1995 in and around high-level natural radiation areas, a narrow strip of land on the southwest coast of Kerala, India. Natural deposits of monazite sand containing thorium and its daughter products account for elevated levels of natural radiation. Among 141,540 newborns [140,558 deliveries: 139,589 singleton, 957 twins (6.81 ‰), 11 triplets (0.078 ‰), and one quadruplet] screened, 615 (4.35 ‰) were stillbirth and MCA were seen in 1,370 (9.68 ‰) newborns. Clubfoot (404, 2.85 ‰) was the most frequent MCA followed by hypospadias (152, 2.10 ‰ among male newborns), congenital heart disease (168, 1.19 ‰), cleft lip/palate (149, 1.05 ‰), Down syndrome (104, 0.73 ‰), and neural tube defects (72, 0.51 ‰). Newborns with MCA among stillbirths were about 20-fold higher at 190.24 ‰ (117/615) compared to 8.89 ‰ (1,253/140,925) among live births (P < .001). Logistic regression was carried out to compare stillbirth, overall, and specific MCA among newborns from areas with dose levels of ≤1.5, 1.51-3.0, 3.01-6.0 and >6 mGy/year after controlling for maternal age at birth, gravida, consanguinity, ethnicity, and gender of the baby. Clubfoot showed higher prevalence of 3.26 ‰ at dose level of 1.51-3.0 mGy/year compared to 2.33 ‰ at ≤1.5 mGy/year (OR = 1.39; 95 % CI, 1.12-1.72), without indication of any clear dose-response. Prevalences of stillbirth, overall MCA, and other specific MCA were similar across different dose levels and were relatively lower than that reported elsewhere in India, probably due to better literacy, health awareness, and practices in the study population.

  4. Multiple tooth anomalies in a nonsyndromic patient with class II division 2 malocclusions: A case report and a literature review.

    PubMed

    Isman, E; Isman, O; Aktan, A M; Ciftci, E; Topcuoglu, T

    2015-01-01

    Reports in the literature about the craniofacial characteristics of patients with class II division 2 malocclusions show a lot of different patterns accompanied by palatally displaced upper incisors, congenital missing teeth, polydiastema, fusion, germination, tooth impaction, peg-shaped lateral incisors, persistent teeth, hypodontia, persistent deciduous teeth, transpositions, and supernumerary teeth. The following case report focuses on the description of the clinical characteristics observed on a patient with a very unusual conjunction of dental and skeletal anomalies mentioned above, as well as a literature review on the related issues. Extra-intra-oral examinations, radiographic evaluations, orthodontic consultation, and reviewing the literature concluded that this nonsyndromic patient that refused to receive all dental treatment approaches is special with its uniqueness.

  5. Imaging of congenital anomalies and acquired lesions of the inner ear.

    PubMed

    Krombach, Gabriele A; Honnef, Dagmar; Westhofen, Martin; Di Martino, Ercole; Günther, Rolf W

    2008-02-01

    Imaging of the temporal bone is under continous developement. In the recent decades the technical advances of magnetic resonance imaging and computed tomography have contributed to improved imaging quality in assessment of the temporal bone. Dedicated imaging protocols have been developed and are routinely employed in most institutions. However, imaging interpretation remains challenging, since the temporal bone is an anatomically highly complex region and most diseases of the inner ear occur with low incidence, so that even radiologists experienced in the field may be confronted with such entities for the first time. The current review gives an overview about symptoms and imaging appearance of malformations and acquired lesion of the inner ear.

  6. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

    PubMed Central

    Vissers, L. E. L. M.; Stankiewicz, P.; Yatsenko, S. A.; Crawford, E.; Creswick, H.; Proud, V. K.; de Vries, B. B. A.; Pfundt, R.; Marcelis, C. L. M.; Zackowski, J.; Bi, W.; van Kessel, A. Geurts; Lupski, J. R.

    2007-01-01

    Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought. The complicated nature of these rearrangements challenges the accurate delineation of the chromosomal breakpoints and mechanisms involved. Here, we report a molecular cytogenetic analysis of two patients with congenital anomalies and unbalanced de novo CCRs involving chromosome 17p using high-resolution array-based comparative genomic hybridization (array CGH) and fluorescent in situ hybridization (FISH). In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the Charcot-Marie–Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p. The latter, together with a duplication of 21q22.3-qter detected by array CGH, are likely the unbalanced product of a translocation t(17;21)(p13.3;q22.3). In the second patient, an 8-year-old girl with mental retardation, short stature, microcephaly and mild dysmorphic features, we identified four submicroscopic interspersed 17p duplications. All 17 breakpoints were examined in detail by FISH analysis. We found that four of the breakpoints mapped within known low-copy repeats (LCRs), including LCR17pA, middle SMS-REP/LCR17pB block, and LCR17pC. Our findings suggest that the LCR burden in proximal 17p may have stimulated the formation of these CCRs and, thus, that genome architectural features such as LCRs may have been instrumental in the generation of these CCRs. PMID:17457615

  7. Interkinetic nuclear migration in the mouse embryonic ureteric epithelium: Possible implication for congenital anomalies of the kidney and urinary tract.

    PubMed

    Motoya, Tomoyuki; Ogawa, Noriko; Nitta, Tetsuya; Rafiq, Ashiq Mahmood; Jahan, Esrat; Furuya, Motohide; Matsumoto, Akihiro; Udagawa, Jun; Otani, Hiroki

    2016-05-01

    Interkinetic nuclear migration (INM) is a phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium, which is characterized by the presence of apical primary cilia, in synchrony with the cell cycle in a manner of apical mitosis. INM is suggested to regulate not only stem/progenitor cell proliferation/differentiation but also organ size and shape. INM has been reported in epithelia of both ectoderm and endoderm origin. We examined whether INM exists in the mesoderm-derived ureteric epithelium. At embryonic day (E) 11.5, E12.5 and E13.5, C57BL/6J mouse dams were injected with 5-bromo-2'-deoxyuridine (BrdU) and embryos were killed 1, 2, 4, 6, 8, 10 and 12 h later. We immunostained transverse sections of the ureter for BrdU, and measured the position of BrdU (+) nuclei in the ureteric epithelia along the apico-basal axis at each time point. We analyzed the distribution patterns of BrdU (+) nuclei in histograms using the multidimensional scaling. Changes in the nucleus distribution patterns suggested nucleus movement characteristic of INM in the ureteric epithelia, and the mode of INM varied throughout the ureter development. While apical primary cilia are related with INM by providing a centrosome for the apical mitosis, congenital anomalies of the kidney and urinary tract (CAKUT) include syndromes linked to primary ciliary dysfunction affecting epithelial tubular organs such as kidney, ureter, and brain. The present study showed that INM exists in the ureteric epithelium and suggests that INM may be related with the CAKUT etiology via primary ciliary protein function.

  8. Embryological Basis and Clinical Correlation of the Rare Congenital Anomaly of the Human Gall Bladder: - “The Diverticulum” - A Morphological Study

    PubMed Central

    Rajguru, Jaba; Jain, Shilpi; Khare, Satyam; Fulzele, Ratna R; Ghai, Rashmi

    2013-01-01

    Background: Diverticulum of the human gall bladder is an important but distinct anatomical entity with significant clinical implications. It is one of the rarest congenital anomalies of the gall bladder being rarely discussed in literature. This article details the morphology of the diverticula found, along with the embryological basis and clinical significance of this important anatomical and clinical entity. Aim: To study the diverticula found, with respect to their morphology, and ascertain whether they were of congenital or acquired variety. Setting and Designs: The present study is a retrospective study carried on hundred cadavers during undergraduate dissection, in the Department of Anatomy, Jawaharlal Nehru Medical College, Sawangi (Meghe), Wardha, and Department of Anatomy, Subharti Medical College , Meerut during a four year period i.e. 2008-2012 after obtaining necessary permission from institutional ethical committee. Material and Methods: Hundred gall bladder specimens collected from 10% formalin fixed cadavers were studied in detail with regard to their number, position, shapes dimensions and histology. Results: Nine, congenital (true) diverticula were found in one hundred gall bladder specimens. The diverticula were of various shapes and dimensions. They formed pouches on the luminal surface of the gall bladder. Diagnosis of congenital diverticulum was confirmed by histology. Conclusion: In this cadaveric study, solitary diverticulum was found in nine (9%) specimens out of one hundred specimens. Association of diverticulum with non-specific prolonged ailments, acalculus cholecystitis, cholecystitis and cholelithiasis, recurrent cholangitis and carcinoma of gallbladder has been reported in literature. This important anatomical as well as clinical entity poses challenges for radiologists and laparoscopic surgeons during interventional procedures and also should be differentiated from other types of congenital anomalies and pathological states of gall

  9. Congenital Temporomandibular Joint Ankylosis: Case Report and Literature Review

    PubMed Central

    Cheong, Ryan Chin Taw; Kassam, Karim; Eccles, Simon; Hensher, Robert

    2016-01-01

    Congenital temporomandibular joint (TMJ) ankylosis is an uncommon condition that presents itself at or soon after birth in the absence of acquired factors that could have contributed to the ankylosis such as infection and trauma. The experience of managing one such case is reported in light of a review of the literature on this condition. Key management principles include adequate removal of the ankylotic mass, costochondral grafting, and post-op physiotherapy. Most patients reported in the literature with the condition experienced relapse. This echoes our own experience where there was recurrence of the ankylosis. However, after removal of the ankylotic mass, the patient maintains a satisfactory maximal incisal opening (MIO) till the present day. The additional challenges faced in the congenital form in addition to the already complex management of acquired paediatric temporomandibular joint ankylosis are (1) much earlier insult to the TMJ, (2) reduced opportunity for neuromuscular development of the muscles of mastication, and (3) reduced compliance with postoperative physiotherapy programmes due to the younger age of these patients. PMID:27190665

  10. Management of Congenital Chest Wall Deformities

    PubMed Central

    Blanco, Felix C.; Elliott, Steven T.; Sandler, Anthony D.

    2011-01-01

    Congenital chest wall deformities are considered to be anomalies in chest wall growth. These can be categorized as either rib cage overgrowth or deformities related to inadequate growth (aplasia or dysplasia). Rib cage overgrowth leads to depression of the sternum (pectus excavatum) or protuberance of the sternum (pectus carinatum) and accounts for greater than 90% of congenital chest wall deformities. The remaining deformities are a result of inadequate growth. Evolution in the management of congenital chest wall deformities has made significant progress over the past 25 years. This article will review chest wall deformities and the current management strategies of these interesting anomalies. PMID:22294949

  11. Mimicry of Appendicitis Symptomatology in Congenital Anomalies and Diseases of the Genitourinary System and Pregnancy

    PubMed Central

    Dalpiaz, Amanda; Gandhi, Jason; Smith, Noel L.; Dagur, Gautam; Schwamb, Richard; Weissbart, Steven J.; Khan, Sardar Ali

    2017-01-01

    Introduction Appendicitis is a prevailing cause of acute abdomen, but is often difficult to diagnose due to its wide range of symptoms, anatomical variations, and developmental abnormalities. Urological disorders of the genitourinary tract may be closely related to appendicitis due to the close proximity of the appendix to the genitourinary tract. This review provides a summary of the urological complications and simulations of appendicitis. Both typical and urological symptoms of appendicitis are discussed, as well as recommended diagnostic and treatment methods. Methods Medline searches were conducted via PubMed in order to incorporate data from the recent and early literature. Results Urological manifestations of appendicitis affect the adrenal glands, kidney, retroperitoneum, ureter, bladder, prostate, scrotum, and penis. Appendicitis in pregnancy is difficult to diagnose due to variations in appendiceal position and trimester-specific symptoms. Ultrasound, CT, and MRI are used in diagnosis of appendicitis and its complications. Treatment of appendicitis may be done via open appendectomy or laparoscopic appendectomy. In some cases, other surgeries are required to treat urological complications, though surgery may be avoided completely in other cases. Conclusion Clinical presentation and complications of appendicitis vary among patients, especially when the genitourinary tract is involved. Appendicitis may mimic urological disorders and vice versa. Awareness of differential diagnosis and proper diagnostic techniques is important in preventing delayed diagnosis and possible complications. MRI is recommended for diagnosis of pregnant patients. Ultrasound is preferred in patients exhibiting typical symptoms. PMID:28413377

  12. Congenital defects of pericardium: case reports and review of literature.

    PubMed

    Cuccuini, Matteo; Lisi, Francesca; Consoli, Arturo; Mancini, Sara; Bellino, Valentina; Galanti, Giorgio; Capaccioli, Leonardo

    2013-01-01

    Pericardial defects are a rare condition, generally asymptomatic, due to failure in development of pericardial sac. They are difficult to detect, particularly the complete absence of the pericardium. At present magnetic resonance imaging (MRI) is considered the best performing exam and it could be the first choice in the diagnosis of agenesia of the pericardium. A comprehensive review of dedicated books and PubMed literature was performed and three clinical cases have been analyzed. We report three cases, one with partial and two with total agenesia of the left pericardium, seen at our Institute and diagnosed at MRI as unexpected findings. The diagnosis of a congenital defect of the pericardium is challenging, even for expert radiologists, because this kind of deformity does not provide specific clinical nor conventional radiology findings. Nowadays, the most effective instrument for a certain diagnosis is MRI, interlocked with electrocardiography.

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

    PubMed

    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

    2016-02-01

    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 to 5.79%. This consensus document from the Development, Anatomy and Pathology Working Group of the European Society of Cardiology aims to provide: (i) a definition of normality that refers to essential anatomical and embryological features of coronary vessels, based on the integrated analysis of studies of normal and abnormal coronary embryogenesis and pathophysiology; (ii) an animal model-based systematic survey of the molecular and cellular mechanisms that regulate coronary blood vessel development; (iii) an organization of the wide spectrum of coronary artery anomalies, according to a comprehensive anatomical and embryological classification scheme; (iv) current knowledge of the pathophysiological mechanisms underlying symptoms and signs of coronary artery anomalies, with diagnostic and therapeutic implications. This document identifies the mosaic-like embryonic development of the coronary vascular system, as coronary cell types differentiate from multiple cell sources through an intricate network of molecular signals and haemodynamic cues, as the necessary framework for understanding the complex spectrum of coronary artery anomalies observed in human patients.

  14. Frequency of the Congenital Transmission of Trypanosoma cruzi: A Systematic Review and Meta-Analysis

    PubMed Central

    Howard, Elizabeth J.; Xiong, Xu; Carlier, Yves; Sosa-Estani, Sergio; Buekens, Pierre

    2014-01-01

    Background Chagas disease is caused by the parasite Trypanosoma cruzi and endemic in much of Latin America. With increased globalization and immigration, it is a risk in any country due in part to congenital transmission. The frequency of congenital transmission is unclear. Objective To assess the frequency of congenital transmission of T. cruzi. Search Strategy PubMed, Journals@Ovid Full Text, EMBASE, CINAHL, Fuente Academica and BIREME databases were searched using seven search terms related to Chagas disease or Trypanosoma cruzi and congenital transmission. Selection Criteria The inclusion criteria were the following: Dutch, English, French, Portuguese or Spanish language; case report, case series or observational study; original data on congenital T. cruzi infection in humans; congenital infection rate reported or it could be derived. This systematic review included 13 case reports/series and 51 observational studies. Data Collection and Analysis Two investigators independently collected data on study characteristics, diagnosis and congenital infection rate. The principal summary measure – the congenital transmission rate – is defined as the number of congenitally infected infants divided by the number of infants born to infected mothers. A random effects model was utilized. Main Results The pooled congenital transmission rate was 4.7% (95% confidence interval: 3.9–5.6%). Endemic countries had a higher rate of congenital transmission compared to non-endemic (5.0% vs. 2.7%). Conclusions Congenital transmission of Chagas disease is a global problem. Overall risk of congenital infection in infants born to infected mothers is about 5%. The congenital mode of transmission requires targeted screening to prevent future cases of Chagas disease. PMID:23924273

  15. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

    PubMed

    Sampson, Matthew G; Coughlin, Curtis R; Kaplan, Paige; Conlin, Laura K; Meyers, Kevin E C; Zackai, Elaine H; Spinner, Nancy B; Copelovitch, Lawrence

    2010-10-01

    Congenital Anomalies of the Kidney and Urinary Tract can be associated with Hirschsprung disease. We report on three children with a similar 16p11.2 microdeletion with a spectrum of clinical anomalies consisting of congenital anomalies of the kidney and urinary tract in two patients (Patients 1 and 2) and Hirschsprung disease in two patients (Patients 1 and 3), leading us to hypothesize that a gene in this region is associated with these phenotypes. Patient 1 presented with left renal agenesis, grade-IV vesicoureteral reflux, and Hirschsprung disease, Patient 2 with left renal agenesis, chronic kidney disease, chronic constipation, seizures, and developmental delay, and Patient 3 with Hirschsprung disease and normal kidneys. Genome-wide microarray analysis demonstrated overlapping microdeletions within 16p11.2. The shortest region of overlap in the three patients contained only eight genes, including the SH2 domain-containing binding protein 1 (SH2B1), an adaptor protein which has been implicated in enhancement of the tyrosine kinase activity of RET, whose role in developmental disease of the kidney and enteric enervation is well established. Our findings suggest that 16p11.2 deletions are associated with abnormalities of renal and enteric development and we hypothesize that deletion of SH2B1 may account for the observed phenotype.

  16. Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

    PubMed Central

    Jin, Hyun-Seok; Kim, Jeonhyun; Kwak, Woori; Jeong, Hyeonsoo; Lim, Gyu-Bin

    2017-01-01

    Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family. Based on family WES data, we identified a novel BRD4 missense mutation as a candidate causal variant and performed cell-based experiments by ablation of endogenous BRD4 expression in human lens epithelial cells. The protein expression levels of connexin 43, p62, LC3BII, and p53 differed significantly between control cells and cells in which endogenous BRD4 expression was inhibited. We inferred that a BRD4 missense mutation was the likely disease-causing mutation in this family. Our findings may improve the molecular diagnosis of congenital cataracts and support the use of WES to clarify the genetic basis of complex diseases. PMID:28076398

  17. Has the prevalence of congenital abnormalities after intracytoplasmic sperm injection increased? The Leuven data 1994-2000 and a review of the literature.

    PubMed

    Hindryckx, An; Peeraer, Karen; Debrock, Sophie; Legius, Eric; de Zegher, Francis; Francois, Inge; Vanderschueren, Dirk; Demyttenaere, Koen; Rijkers, Anna; D'Hooghe, Thomas

    2010-01-01

    Although intracytoplasmic sperm injection (ICSI) is now accepted as the treatment of choice for severe male infertility, concerns about its safety and the potential risks for the offspring remain. We reviewed the literature with respect to the prevalence of major congenital malformations after the ICSI technique and supplemented these data with the results of a prospective follow-up study performed in our center. From January 1994 till June 2000, 776 ICSI cycles were carried out at the Leuven University Fertility Center. The resulting pregnancies (n = 172) were followed for biochemical and obstetrical parameters, prenatal diagnosis and congenital abnormalities. A total of 134/172 (78%) ongoing pregnancies resulted in 132 deliveries of 166 live born children. Two terminations of pregnancy were carried out due to the presence of major congenital anomalies, diagnosed at prenatal ultrasound. Prenatal diagnosis was carried out in 55 fetuses. Two de novo chromosomal aberrations were found. Major congenital abnormalities were observed at birth in 9/150 (6.0%) children. The total malformation rate was 6.5%. The prevalence of congenital abnormalities in children born after ICSI in our center (6.5%) was comparable to the prevalence of congenital abnormalities after ICSI reported in the literature. Copyright (c) 2010 S. Karger AG, Basel.

  18. Congenital Absence of a Cervical Spine Pedicle : Report of Two Cases and Review of the Literature

    PubMed Central

    Oh, Young-Min

    2008-01-01

    Congenital absence of a cervical spine pedicle is a rare clinical entity, and it is usually found incidentally on radiological studies performed after trauma in patients with cervical pain. We report two cases of congenital absence of a cervical spine pedicle and present a review of the literature. PMID:19137085

  19. Retrospective review of congenital heart disease in 976 dogs.

    PubMed

    Oliveira, P; Domenech, O; Silva, J; Vannini, S; Bussadori, R; Bussadori, C

    2011-01-01

    Knowledge of epidemiology is important for recognition of cardiovascular malformations. Review the incidence of congenital heart defects in dogs in Italy and assess breed and sex predispositions. Nine hundred and seventy-six dogs diagnosed with congenital heart disease (CHD) of 4,480 dogs presented to Clinica Veterinaria Gran Sasso for cardiovascular examination from 1997 to 2010. A retrospective analysis of medical records regarding signalment, history, clinical examination, radiography, electrocardiography, echocardiography, angiography, and postmortem examination was performed. Breed and sex predisposition were assessed with the odds ratio test. CHD was observed in 21.7% of cases. A total of 1,132 defects were observed with single defects in 832 cases (85%), 2 concurrent defects in 132 cases (14%), and 3 concurrent defects in 12 cases (1%). The most common defects were pulmonic stenosis (PS; 32.1%), subaortic stenosis (SAS; 21.3%), and patent ductus arteriosus (20.9%), followed by ventricular septal defect (VSD; 7.5%), valvular aortic stenosis (AS; 5.7%), and tricuspid dysplasia (3.1%). SAS, PS, and VSD frequently were associated with other defects. Several breed and sex predispositions were identified. The results of this study are in accordance with previous studies, with slight differences. The breed and sex predilections identified may be of value for the diagnosis and screening of CHD in dogs. Additionally, the relatively high percentage of concurrent heart defects emphasizes the importance of accurate and complete examinations for identification. Because these data are from a cardiology referral center, a bias may exist. Copyright © 2011 by the American College of Veterinary Internal Medicine.

  20. Review of congenital inner ear abnormalities on CT temporal bone.

    PubMed

    Yiin, R S Z; Tang, P H; Tan, T Y

    2011-09-01

    The aetiology of profound hearing loss in children is complex and multifactorial. Congenital inner ear abnormality is a major cause of hearing loss in children. CT temporal bone imaging is the modality of choice in the investigation of hearing loss. Recognising the congenital abnormalities of the inner ear guides the clinician's management of the condition. This pictorial essay illustrates the congenital abnormalities of the inner ear on high resolution CT temporal bone images and correlation with developmental arrest during embryology.

  1. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies

    PubMed Central

    Gajbhiye, Rahul; Kadam, Kaushiki; Khole, Aalok; Gaikwad, Avinash; Kadam, Seema; Shah, Rupin; Kumaraswamy, Rangaswamy; Khole, Vrinda

    2016-01-01

    Background & objectives: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. Methods: Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened. Results: Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A) were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings. PMID:27488005

  2. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.

    PubMed

    Gajbhiye, Rahul; Kadam, Kaushiki; Khole, Aalok; Gaikwad, Avinash; Kadam, Seema; Shah, Rupin; Kumaraswamy, Rangaswamy; Khole, Vrinda

    2016-05-01

    The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened. Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A) were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings.

  3. A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.

    PubMed

    Reis, Linda M; Tyler, Rebecca C; Zori, Roberto; Burgess, Jennifer; Mueller, Jennifer; Semina, Elena V

    2015-03-01

    We read with interest the recent publication by Tarlan and colleagues 1 describing a patient with 22q11.2 deletion syndrome and ocular features of right microphthalmia and left anterior segment dysgenesis. While anterior segment dysgenesis disorders are occasionally reported with 22q11.2 deletions, 2-5 this remains a rare association. We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly with congenital glaucoma; in addition, our patient was found to have a single heterozygous mutation in CYP1B1, c.83C > T, p.(Ser28Trp).

  4. [Giant congenital intrapericardial left atrial appendage aneurysm: about a case and review of the literature].

    PubMed

    Zhari, Bouchra; Bellamlih, Habib; Boumdine, Hassan; Amil, Touriya; Bamous, Mehdi; En-Nouali, Hassan

    2016-01-01

    Left atrial appendage aneurysm is a very rare heart anomaly. It may be congenital or acquired, secondary to inflammatory or degenerative processes. Most cases are asymptomatic. The prevalence of these lesions in pediatric age has been very rarely reported. As it can cause potentially fatal arrhythmias or thrombus, surgery is required immediately after diagnosis. This study reports the case of a 14-year-old boy with rapidly progressive dyspnea, palpitations, sensation of repetitive dizziness and fainting, in whom congenital left atrial appendage aneurysm was detected. Diagnosis was based on coronary CTA data. The patient was successfully treated with surgical resection of the aneurysm.

  5. Endoscopic management for congenital esophageal stenosis: A systematic review

    PubMed Central

    Terui, Keita; Saito, Takeshi; Mitsunaga, Tetsuya; Nakata, Mitsuyuki; Yoshida, Hideo

    2015-01-01

    Congenital esophageal stenosis (CES) is an extremely rare malformation, and standard treatment have not been completely established. By years of clinical research, evidence has been accumulated. We conducted systematic review to assess outcomes of the treatment for CES, especially the role of endoscopic modalities. A total of 144 literatures were screened and reviewed. CES was categorized in fibromuscular thickening, tracheobronchial remnants (TBR) and membranous web, and the frequency was 54%, 30% and 16%, respectively. Therapeutic option includes surgery and dilatation, and surgery tends to be reserved for ineffective dilatation. An essential point is that dilatation for TBR type of CES has low success rate and high rate of perforation. TBR can be distinguished by using endoscopic ultrasonography (EUS). Overall success rate of dilatation for CES with or without case selection by using EUS was 90% and 29%, respectively. Overall rate of perforation with or without case selection was 7% and 24%, respectively. By case selection using EUS, high success rate with low rate of perforation could be achieved. In conclusion, endoscopic dilatation has been established as a primary therapy for CES except TBR type. Repetitive dilatation with gradual step-up might be one of safe ways to minimize the risk of perforation. PMID:25789088

  6. More on the La Porte Anomaly: A Review.

    NASA Astrophysics Data System (ADS)

    Changnon, Stanley A., Jr.

    1980-07-01

    The anomalous behavior of the precipitation in northwestern Indiana (the La Porte anomaly) since the late 1930s has been extensively studied and debated. Local records suggested an upward shift in warm season rainfall, thunderstorms, and hail during the 1935-65 period. The possible causes for this included changed station exposure, a poor observer, urban influences on the atmosphere due to nearby Chicago, and/or shifts in the general circulation patterns. Most debate has centered on the observer error versus urban effects explanation, but the La Porte anomaly has become a cause célèbre in the interwoven areas of climate change, air pollution, weather modification, and the quality of climatic records. A variety of recent studies of rainfall conditions and their areas of impact (streamflow, crop yields, and hail losses) show that the anomaly in the La Porte area began to shift locale in the 1950s and then disappeared in the 1960s. Taken in totality, it seems likely that the anomalous precipitation at La Porte was due to urban influences on the atmosphere, but the anomaly either ended or shifted into Lake Michigan (where it cannot now be detected) as the general circulation pattern changed, leading to fewer cyclonic passages and a more southward position of the Polar Front in the Midwest since 1960.

  7. Congenital defects of the abdominal wall. A review of the experience in New Mexico.

    PubMed

    Klein, M D; Kosloske, A M; Hertzler, J H

    1981-04-24

    Omphalocele, umbilical cord hernia, and gastroschisis are surgically correctable defects of the abdominal wall. Each of these defects has a distinct embryologic basis that results in a characteristic clinical picture. Twenty-five infants with congenital defects of the abdominal wall were treated at the University of New Mexico Hospital in the past four years. Six infants had omphalocele, one had umbilical cord hernia, and 18 had gastroschisis. Survival among infants who underwent a corrective operation was as follows: omphalocele, 50%; umbilical cord hernia, 100%; and gastroschisis, 82%. Long-term survival for the entire group was 72% (18/25). Gastroschisis, which had a lower incidence of major associated anomalies, had a better prognosis than omphalocele. The mortality of congenital abdominal wall defects was related to presence of severe associated anomalies and to poor clinical condition on admission. Prompt and informed initial care may increase the chance of survival.

  8. Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

    PubMed Central

    Shaheen, Ranad; Anazi, Shams; Ben-Omran, Tawfeg; Seidahmed, Mohammed Zain; Caddle, L. Brianna; Palmer, Kristina; Ali, Rehab; Alshidi, Tarfa; Hagos, Samya; Goodwin, Leslie; Hashem, Mais; Wakil, Salma M.; Abouelhoda, Mohamed; Colak, Dilek; Murray, Stephen A.; Alkuraya, Fowzan S.

    2016-01-01

    Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of transcripts as well. Despite the critical role of NMD at the cellular level, our knowledge about the consequences of deficiency of its components at the organismal level is largely limited to model organisms. In this study, we report two consanguineous families in which a similar pattern of congenital anomalies was found to be most likely caused by homozygous loss-of-function mutations in SMG9, encoding an essential component of the SURF complex that generates phospho-UPF1, the single most important step in NMD. By knocking out Smg9 in mice via CRISPR/Cas9, we were able to recapitulate the major features of the SMG9-related multiple congenital anomaly syndrome we observed in humans. Surprisingly, human cells devoid of SMG9 do not appear to have reduction of PTC-containing transcripts but do display global transcriptional dysregulation. We conclude that SMG9 is required for normal human and murine development, most likely through a transcriptional regulatory role, the precise nature of which remains to be determined. PMID:27018474

  9. 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.

    PubMed

    Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca; Barisic, Ingeborg; Bermejo-Sánchez, Eva; Bianchi, Fabrizio; Calzolari, Elisa; Carbone, Pietro; Curran, Rhonda; Garne, Ester; Gatt, Miriam; Latos-Bieleńska, Anna; Khoshnood, Babak; Irgens, Lorentz; Mantovani, Alberto; Martínez-Frías, Maria Luisa; Neville, Amanda; Rißmann, Anke; Ruggeri, Stefania; Wellesley, Diana; Dolk, Helen

    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 to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe.

  10. Clinical and molecular review of atypical congenital adrenal hyperplasia

    PubMed Central

    2015-01-01

    Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis. More than 90% of cases are caused by a defect in the enzyme 21-hydroxylase. Four other enzyme deficiencies (cholesterol side-chain cleavage, 17α-hydroxylase [P450c17], 11β-hydroxylase [P450c11β], 3β-hydroxysteroid dehydrogenase) in the steroid biosynthesis pathway, along with one cholesterol transport protein defect (steroidogenic acute regulatory protein), and one electrontransfer protein (P450 oxidoreductase) account for the remaining cases. The clinical symptoms of the different forms of CAH result from the particular hormones that are deficient and those that are produced in excess. A characteristic feature of CAH is genital ambiguity or disordered sex development, and most variants are associated with glucocorticoid deficiency. However, in the rare forms of CAH other than 21-hydroxylase deficiency so-called "atypical CAH", the clinical and hormonal phenotypes can be more complicated, and are not well recognized. This review will focus on the atypical forms of CAH, including the genetic analyses, and phenotypic correlates. PMID:25883920

  11. Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature.

    PubMed

    Hong, Chris J; Caulley, Lisa; Kohlert, Scott; Graham, Gail E; McMillan, Hugh J; Michaud, Jean; Vaccani, Jean-Philippe

    2016-07-01

    Trismus refers to any condition inducing limited mouth opening and may present as a result of acquired or congenital pathology. We present the case of a newborn who presented with severe, congenital trismus due to brainstem dysgenesis. We describe the course of his investigations, and a multidisciplinary approach to the management of his care and follow-up. To our knowledge, this is one of the earliest reported cases of congenital trismus attributable to brainstem dysgenesis. A literature review was conducted to provide an overview of the differential pathogenesis as it presents in congenital cases and discuss the complexity of managing congenital trismus due to brainstem dysgenesis in a neonate and infant. Copyright © 2016 by the American Academy of Pediatrics.

  12. Turner's syndrome and cardiovascular anomalies: a case report and review of the literature.

    PubMed

    Subramaniam, P N

    1989-04-01

    Turner's syndrome is a genetic disease in which many cardiovascular anomalies have been reported, coarctation of the aorta being the most frequent. The most serious complication that can arise from these abnormalities is aortic dissection. The authors present an unusual case of Turner's syndrome with an aortic sinus aneurysm and severe aortic insufficiency in the absence of coarctation of the aorta. The various cardiovascular anomalies seen in Turner's syndrome, such as coarctation of the aorta, bicuspid aortic valve, aortic dissection, aortic sinus aneurysm and ascending aorta aneurysm, can best be understood on a common basis of congenital structural abnormalities involving the aorta and the aortic valve. The only evidence available for such an abnormality is the presence of cystic medial necrosis in the affected vascular tissues.

  13. Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

    PubMed

    Zhang, D D; Du, J Z; Topolewski, J; Wang, X M

    2016-07-29

    Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment.

  14. Cardiac resynchronization therapy in patients with challenging anatomy due to venous anomalies or adult congenital heart disease.

    PubMed

    Niazi, Imran; Dhala, Anwer; Choudhuri, Indrajit; Sra, Jasbir; Akhtar, Masood; Tajik, Abdul Jamil

    2014-09-01

    Cardiac resynchronization therapy (CRT) has proven salutary effects in patients with congestive heart failure, systolic dysfunction, and electromechanical dyssynchrony in the setting of ischemic, nonischemic, and congenital cardiomyopathy. While CRT device implants have become routine in the adult ischemic or nonischemic cardiomyopathy populations, patients with congenital heart disease offer special challenges due to unusual anatomic variations. A comprehensive assessment of anatomic abnormalities is essential prior to implant. In addition, implant techniques and equipment must be tailored to the expected anatomy. A flexible approach is necessary-implant may require equipment and techniques adapted from vascular intervention. This article describes our approach to CRT implant in patients with congenital heart disease, and is illustrated by reports of several cases. ©2014 Wiley Periodicals, Inc.

  15. Pre-conceptional vitamin/folic acid supplementation 2007: the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies.

    PubMed

    Wilson, R Douglas

    2007-12-01

    To provide information regarding the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies, so that physicians, midwives, nurses, and other health care workers can assist in the education of women in the pre-conception phase of their health care. OPTION: Supplementation with folic acid and vitamins is problematic, since 50% of pregnancies are unplanned, and women's health status may not be optimal when they conceive. Folic acid in combination with a multivitamin supplement has been associated with a decrease in specific birth defects. Medline, PubMed, and Cochrane Database were searched for relevant English language articles published between 1985 and 2007. The previous Society of Obstetricians and Gynaecologists of Canada (SOGC) Policy Statement of November 1993 and statements from the American College of Obstetrics and Gynecology and Canadian College of Medical Geneticists were also reviewed in developing this clinical practice guideline. The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care. Promoting the use of folic acid and a multivitamin supplement among women of reproductive age will reduce the incidence of birth defects. The costs are those of daily vitamin supplementation and eating a healthy diet. 1. Women in the reproductive age group should be advised about the benefits of folic acid in addition to a multivitamin supplement during wellness visits (birth control renewal, Pap testing, yearly examination) especially if pregnancy is contemplated. (III-A) 2. Women should be advised to maintain a healthy diet, as recommended in Eating Well With Canada's Food Guide (Health Canada). Foods containing excellent to good sources of folic acid are fortified grains, spinach, lentils, chick peas, asparagus, broccoli, peas, Brussels sprouts, corn, and oranges. However, it is unlikely that diet alone can provide

  16. Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.

    PubMed

    Li, Zheng; Shen, Jianxiong; Liang, Jinqian; Sheng, Lin

    2015-05-01

    The Smith-Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome.This study is to present a case of scoliosis occurring in the setting of SMS and explore the possible mechanisms between the 2 diseases.The patient is a 13-year-old Chinese female with congenital scoliosis and Tetralogy of Fallot, mental retardation, obstructive sleep apnea, hypertrophy of tonsil, conductive hearing loss, and agenesis of the epiglottis. An interphase fluorescent in situ hybridization at chromosome 17p11.2 revealed a heterozygous deletion, confirming a molecular diagnosis of SMS. She underwent a posterior correction at thoracic 1-lumbar 1 (T1-L1) levels, using the Moss-SI spinal system. At 6-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of correction.Congenital cardiac disease, immunodeficiency, and severe behavioral problems can affect the surgical outcome following spine fusion and need to be taken into consideration for the surgeon and anesthesiologist. Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS. The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation.

  17. Congenital hypothyroidism: a review of the risk factors.

    PubMed

    Dalili, Setila; Rezvany, Seyed Mahmood; Dadashi, Arsalan; Medghalchi, Abdolreza; Mohammadi, Hamid; Dalili, Hosein; Mirzanejad, Mostafa; Gholamnezhad, Hajar; Amirhakimi, Anis

    2012-01-01

    This study was aimed to evaluate the situation of congenital hypothyroidism (CH) in Guilan using the screening program and determine the correlation of CH with birth weight, gestational age and seasonality. During 2006 to 2010, in Guilan province, neonatal screening for CH by measurement of serum TSH level was performed in 3-5 days after birth. All neonates with TSH level ≥ 5mu/l were referred to endocrinologists and serum TSH, T3 and T4 were measured. Based on public health data and profiles, total number of newborns, gestational age, route of delivery, birth season and birth weight in all screened neonates was reviewed and for ones with CH, their TSH measurements was also recorded. During 5 years, 119701 neonates were screened and CH was confirmed in 10.8% (221) of the referral cases (prevalence=1:542). No significant statistical difference was seen between gender and birth season among patients with CH and the rest of the population. Interestingly, low birth weight (LBW) (31% vs. 4.9%, P<0.01), postdate delivery (1.4% vs. 0.2%, P<0.01) and macrosomia were more prevalent in CH versus normal population (Odds ratio for post-date delivery was 6.9 and for LBW was 3.2). Rate of normal vaginal delivery (NVD) was significantly higher in neonates with CH compared to normal population (39.2% vs. 29.2%, P=0.01). LBW, postdate delivery and macrosomia are risk factors for CH. No association between sex, birth season or caesarian section delivery was seen.

  18. Choledochal cysts. A review of the cystic anomalies of the biliary tree.

    PubMed Central

    Olbourne, N. A.

    1975-01-01

    Congenital cysts of the biliary tree, although uncommon, are being reported in increasing numbers. The widely accepted classification would seem to warrant modification in the light of recent observations. The clinical spectrum of the condition is reviewed, together with the surgical approach to treatment and its indications and complications. PMID:1096740

  19. Incidence and Risks of Congenital Anomalies of Kidney and Urinary Tract in Newborns: A Population-Based Case-Control Study in Taiwan.

    PubMed

    Tain, You-Lin; Luh, Hsing; Lin, Ching-Yuang; Hsu, Chien-Ning

    2016-02-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) are 1 of the major factors in young adults needing renal replacement therapy, but there is little extensive assessment of their incidence and risk factors. This study aimed to evaluate trends in the incidence of and risk factors for CAKUT among all births in Taiwan.This population-based case-control study design was conducted using the Taiwan national births registry, which contains detailed information about maternal health and characteristics of newborns, supplied by health professionals. Of 1,603,794 newborns registered between 2004 and 2014, 668 infants were reported to have CAKUT. Newborns without congenital anomalies were matched with CAKUT cases by birth year, month, and Apgar score in a ratio of 5:1. Odds ratio (OR) and 95% confidence interval (CI) for developing CAKUT were calculated using a conditional multivariate logistic regression model.The incidence of CAKUT was approximately 4.2 per 10,000 births. The adjusted ORs for CAKUT in newborns associated with maternal age of 20 to 29 (OR, 2.18; 95% CI, 1.11-4.28), or 30 to 39 (OR, 2.29; 95% CI, 1.17-4.51), maternal gestational diabetes (OR, 2.22, 95% CI, 1.06-4.67), maternal thalassemia/hemochromatosis (OR, 2.67; 95% CI, 1.35-5.27), polyhydramnios or oligohydramnios (OR, 9.16; 95% CI, 5.46-15.37), birth parity >1 (OR, 0.27; 95% CI, 0.15-0.50), having a gestational age <37 weeks (OR, 1.48; 95% CI, 1.23-1.78), and being a boy (OR, 1.83; 95% CI, 1.53-2.19). Infants of mother with gestational diabetes were more likely to have congenital anomalies, small gestational age (<37 weeks) and low birth weight.CAKUT are associated with several maternal health risk factors. As Taiwan has the highest prevalence and incidence rates of end-stage renal disease in the world, these findings strongly support the need to develop professional guidelines for prenatal counseling and management of women at risk of adverse birth outcomes, to prevent kidney disease

  20. Safety of tetanus toxoid in pregnant women: a hospital-based case-control study of congenital anomalies.

    PubMed Central

    Silveira, C. M.; Cáceres, V. M.; Dutra, M. G.; Lopes-Camelo, J.; Castilla, E. E.

    1995-01-01

    Reported are the results of the Latin American Collaborative Study of Congenital Malformations (ECLAMC), a hospital-based case-control study of 34,293 malformed and 34,477 matched nonmalformed newborn controls. No statistical differences were found between the malformed and control groups, exposed or not exposed to tetanus toxoid. PMID:8846486

  1. Congenital tuberculosis: case report and review of the literature.

    PubMed

    Chang, Ching-Wen; Wu, Patricia Wanping; Yeh, Chih-Hua; Wong, Kin-Sun; Wang, Chao-Jan; Chang, Chih-Chen

    2017-04-19

    Congenital tuberculosis is rare, even where tuberculosis (TB) is endemic. A 14-day-old girl presented with a 3-day history of fever and respiratory distress. Her mother was diagnosed with a disseminated TB infection immediately after the delivery which was confirmed by a positive TB-polymerase chain reaction (TB-PCR) and subsequent culture from ascites and sputum. The infant was separated from her mother at birth. Her chest radiograph showed bilateral miliary nodules. Congenital TB was strongly suspected because of the symptoms, signs and maternal TB history, and was confirmed by TB-PCR and culture from the gastric lavage. Timely administration of standard anti-TB therapy resulted in a good outcome. The case highlights the importance of maternal TB history and typical miliary pattern on chest radiography for early diagnosis of congenital or neonatal TB which in turn facilitates prompt treatment and the prognosis.

  2. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies: a European register-based study.

    PubMed

    Wemakor, Anthony; Casson, Karen; Garne, Ester; Bakker, Marian; Addor, Marie-Claude; Arriola, Larraitz; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Nelen, Vera; O'Mahoney, Mary; Pierini, Anna; Rissmann, Anke; Tucker, David; Boyle, Breidge; de Jong-van den Berg, Lolkje; Dolk, Helen

    2015-11-01

    Evidence of an association between early pregnancy exposure to selective serotonin reuptake inhibitors (SSRI) and congenital heart defects (CHD) has contributed to recommendations to weigh benefits and risks carefully. The objective of this study was to determine the specificity of association between first trimester exposure to SSRIs and specific CHD and other congenital anomalies (CA) associated with SSRI exposure in the literature (signals). A population-based case-malformed control study was conducted in 12 EUROCAT CA registries covering 2.1 million births 1995-2009 including livebirths, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. Babies/fetuses with specific CHD (n = 12,876) and non-CHD signal CA (n = 13,024), were compared with malformed controls whose diagnosed CA have not been associated with SSRI in the literature (n = 17,083). SSRI exposure in first trimester pregnancy was associated with CHD overall (OR adjusted for registry 1.41, 95% CI 1.07-1.86, fluoxetine adjOR 1.43 95% CI 0.85-2.40, paroxetine adjOR 1.53, 95% CI 0.91-2.58) and with severe CHD (adjOR 1.56, 95% CI 1.02-2.39), particularly Tetralogy of Fallot (adjOR 3.16, 95% CI 1.52-6.58) and Ebstein's anomaly (adjOR 8.23, 95% CI 2.92-23.16). Significant associations with SSRI exposure were also found for ano-rectal atresia/stenosis (adjOR 2.46, 95% CI 1.06-5.68), gastroschisis (adjOR 2.42, 95% CI 1.10-5.29), renal dysplasia (adjOR 3.01, 95% CI 1.61-5.61), and clubfoot (adjOR 2.41, 95% CI 1.59-3.65). These data support a teratogenic effect of SSRIs specific to certain anomalies, but cannot exclude confounding by indication or associated factors.

  3. Anomalous origin of the left circumflex coronary artery from the pulmonary artery. A very rare congenital anomaly in an adult patient diagnosed by cardiovascular magnetic resonance.

    PubMed

    Korosoglou, Grigorios; Ringwald, Gerd; Giannitsis, Evangelos; Katus, Hugo A

    2008-01-21

    Here we report for the first time on the diagnostic potential of cardiovascular magnetic resonance (CMR) to delineate the proximal course of an anomalous left circumflex coronary artery (LCX) originating from the right pulmonary artery in an adult patient with no other form of congenital heart disease. The patient was referred to our institution due to exertional chest discomfort. X-Ray coronary angiography showed a normal left anterior descending coronary artery (LAD) and right coronary artery (RCA), while the LCX was filled retrograde by collateral flow through the LAD and the RCA. The origin of the LCX was postulated to be the pulmonary artery, but the exact origin of the anomalous artery could not be depicted on conventional angiograms. CMR provided the unambiguous depiction of the origin of the anomalous LCX from the right pulmonary artery and the delineation of its proximal course in this case of a very rare coronary anomaly in adults.

  4. Strategies to achieve sustainability and quality in birth defects registries: the experience of the National Registry of Congenital Anomalies of Argentina.

    PubMed

    Groisman, Boris; Bidondo, Maria Paz; Gili, Juan Antonio; Barbero, Pablo; Liascovich, Rosa

    2013-01-01

    In many low-and middle-income countries, birth defects are not considered a public health priority and are perceived by the medical community as rare, unpreventable events. In this context, a registry of birth defects should address not only the collection, analysis, and dissemination of information but also contribute to local interventions like prevention, diagnosis, and treatment. We describe the National Registry of Congenital Anomalies of Argentina (RENAC) in terms of case definition, data collection, quality assurance, and data sending, coding, analysis, and information dissemination and we present the strategies used to ensure its sustainability. We emphasize strategies for motivating the people collecting data, such as training activities, participation in research projects, returning the processed data, making useful clinical information available, giving non-monetary rewards, and linking cases to genetic services.

  5. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men.

    PubMed

    Nishimura, H; Yerkes, E; Hohenfellner, K; Miyazaki, Y; Ma, J; Hunley, T E; Yoshida, H; Ichiki, T; Threadgill, D; Phillips, J A; Hogan, B M; Fogo, A; Brock, J W; Inagami, T; Ichikawa, I

    1999-01-01

    Angiotensin type 2 receptor gene null mutant mice display congenital anomalies of the kidney and urinary tract (CAKUT). Various features of mouse CAKUT impressively mimic human CAKUT. Studies of the human type 2 receptor (AGTR2) gene in two independent cohorts found that a significant association exists between CAKUT and a nucleotide transition within the lariat branchpoint motif of intron 1, which perturbs AGTR2 mRNA splicing efficiency. AGTR2, therefore, has a significant ontogenic role for the kidney and urinary tract system. Studies revealed that the establishment of CAKUT is preceded by delayed apoptosis of undifferentiated mesenchymal cells surrounding the urinary tract during key ontogenic events, from the ureteral budding to the expansive growth of the kidney and ureter.

  6. Vestibular abnormalities in congenital disorders.

    PubMed

    Sando, I; Orita, Y; Miura, M; Balaban, C D

    2001-10-01

    This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.

  7. Congenital pulmonary airway malformation: a case report and review of the literature.

    PubMed

    McDonough, Ryan J; Niven, Alexander S; Havenstrite, Keith A

    2012-02-01

    Congenital parenchymal lung malformations have an estimated incidence at 1:25,000-1:35,000 births. We present a case of this rare congenital abnormality in a 38 year-old male, review the current literature with discussion of proposed causes, malignant potential, and management strategies. A 38-year-old white male presented with a 4-day history of chronic stable hemoptysis. Social history was notable for a 50-pack-year active smoking history and remote heavy alcohol consumption. Physical examination was normal. Chest radiograph revealed an ill defined right lower lobe infiltrate. Chest computed tomography demonstrated an irregular, thin-walled, cystic lesion with adjacent nodularity and calcifications. The patient received a right lower lobectomy. Pathologic specimen demonstrated a 10-cm, mostly thin-walled cyst with features suggestive of a congenital cyst adenomatoid malformation and areas of adenocarcinoma (mixed subtype with acinar and bronchioloalveolar patterns). Congenital cyst adenomatoid malformations have recently been renamed as congenital pulmonary airway malformations and are the most common type of congenital parenchymal lung malformations. Individuals typically present with recurrent pulmonary infections, pneumothorax, or hemoptysis. The development is controversial but believed to be a result of arrested development of the fetal bronchial tree during the sixth and seventh week of fetal development. Defects in thyroid transcription factor 1 have also been proposed. With the increasing use and image resolution of ultrasound in modern obstetric practice, congenital pulmonary airway malformations rarely go undetected into adulthood. Management remains controversial; however, most authors agree with early surgical excision.

  8. Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis.

    PubMed

    Chen, C P; Lee, C C; Pan, C W; Kir, T Y; Chen, B F

    1998-12-01

    We describe perinatal findings in a female fetus with partial trisomy 8q(8q24.1-->8qter) and partial monosomy 15q(15q26.1-->15qter) resulting from a paternal t(8;15) reciprocal translocation. Prenatal sonographic examination showed intra-uterine growth retardation, bilateral ventriculomegaly, cardiomegaly with arrhythmia, anhydramnios, and absent kidney and urinary bladder images. The pregnancy was terminated at 28 weeks of gestation. At birth, the infant manifested typical dysmorphic features of partial trisomy 8q. Necropsy further revealed hydrocephalus, congenital diaphragmatic hernia, ventricular septal defect, a horseshoe kidney with renal hypoplasia, and kyphoscoliosis. Our case shows that the coexistence of partial trisomy 8q24.1-->8qter and partial monosomy 15q26.1-->15qter are more detrimental than either defect alone and can result in a complex of major malformations. Prenatal ultrasound examination and cytogenetic assessment should be offered in subsequent pregnancies.

  9. Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly.

    PubMed

    Filippelli, Sergio; Perri, Gianluigi; Kirk, Richard; Hasan, Asif; Griselli, Massimo

    2013-11-01

    We report a neonate with a primary diagnosis of congenitally corrected transposition (ccTGA) of the great vessels, hypoplastic right aortic arch, and a severely regurgitant Ebstein tricuspid valve (TV). During the fetal period, she was listed for heart transplantation, and two weeks after birth due to a deterioration of her general condition, we performed a Norwood-Sano modified procedure. After 58 days a donor heart became available and the baby successfully received a orthotopic heart transplantation.

  10. Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

    PubMed

    Aleksiūnienė, Beata; Matulevičiūtė, Rugilė; Matulevičienė, Aušra; Burnytė, Birutė; Krasovskaja, Natalija; Ambrozaitytė, Laima; Mikštienė, Violeta; Dirsė, Vaidas; Utkus, Algirdas; Kučinskas, Vaidutis

    2017-04-01

    Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22.2q22.3 deletion. In this report, we provide detailed analysis of the phenotypic features of both patients as well as compare our data with previously published reports of similar aberrations and discuss possible functional effects of AKT3, CEP170, ZBTB18, DSCAM, and TMPRSS3 genes included in the deleted and/or duplicated regions. Partial trisomy 1q/monosomy 21q has only been reported once before, and this is the first report of partial monosomy 1q/trisomy 21q. The expressed phenotype of mirroring chromosomal aberrations in our patients supports the previous suggestion that the dosage effect of some of the genes included in deleted/duplicated regions may result in opposite phenotypes of the patients.

  11. Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

    PubMed Central

    2014-01-01

    Background Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. Methods Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent’s 180 K microarray platform. Results Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. Conclusion This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries. PMID:25016475

  12. Congenital limb anomalies: frequency and aetiological factors: Data from the Edinburgh Register of the Newborn (1964-68)

    PubMed Central

    Rogala, E. J.; Wynne-Davies, R.; Littlejohn, A.; Gormley, J.

    1974-01-01

    This paper reports a detailed follow up of 156 patients with structural upper and lower limb anomalies, obtained from the Edinburgh Register of the Newborn (a registration of 52,029 consecutive births between 1964 and 1968). At the time of this survey the patients were between 4 and 9 years of age. The Register had noted probably 96% of all children born with limb defects in Edinburgh between 1964 and 1968. It was found that the diagnosis was completely accurate in only 26% of cases, and partially so in a further 42%. The frequency of each anomaly has been noted, subdivided into isolated anomalies; those that occurred with other limb anomalies, and those that formed part of a syndrome. Syndactyly of toes, post-axial polydactyly of the fingers, polysyndactyly, and brachydactyly were found to have a genetic basis. All `absence' defects, pre-axial polydactyly, and multiple limb deformities appeared to be sporadic. Amongst the sporadic group, the main aetiological factors noted were an excess of maternal toxaemia of pregnancy and of illegitimate children, when compared with the Register Control Data. PMID:4372353

  13. Oral Congenital Melanocytic Nevus: A Rare Case Report and Review of the Literature.

    PubMed

    Marangon Júnior, Helvécio; Souza, Paulo Eduardo Alencar; Soares, Rodrigo Villamarim; de Andrade, Bruno Augusto Benevenuto; de Almeida, Oslei Paes; Horta, Martinho Campolina Rebello

    2015-12-01

    Melanocytic nevi are congenital or acquired benign proliferations of cells of melanocytic origin. Oral congenital melanocytic nevi are rare, and only a few cases have been reported in the literature. The purpose of this study is to present the clinical, histological and immunohistochemical features of an oral congenital melanocytic nevus in a 16-year-old female with an 11-year follow-up and to review the pertinent literature. The reported case is the fifth well-documented case report of oral congenital melanocytic nevus in the English literature and the first with a long period of follow-up, thereby making it an important contribution to the knowledge regarding this uncommon oral mucosa lesion.

  14. Congenitally corrected transposition of the great arteries in an 83-year-old asymptomatic patient: description and literature review

    PubMed Central

    Placci, Angelo; Lovato, Luigi; Bonvicini, Marco

    2014-01-01

    We describe the case of an 83-year-old asymptomatic man followed in our centre. Transoesophageal echocardiography disclosed congenitally corrected transposition of great arteries (CCTGA) with no associated anomalies and only mild aortic regurgitation. Cardiac MR confirmed the diagnosis and revealed preserved systemic ventricle systolic function with a normal perfusional pathway. This report is a demonstration that CCTGA without associated anomalies can reach older life in an asymptomatic condition. This is the oldest asymptomatic living patient with CCTGA ever described. PMID:25336547

  15. Congenital Spondylolytic Spondylolisthesis of C2 Vertebra Associated With Atlanto-Axial Dislocation, Chiari Type I Malformation, and Anomalous Vertebral Artery: Case Report With Review Literature.

    PubMed

    Sardhara, Jayesh; Pavaman, Sindgikar; Das, Kuntal; Srivastava, Arun; Mehrotra, Anant; Behari, Sanjay

    2016-11-01

    Congenital spondylolytic spondylolisthesis of C2 vertebra resulting from deficient posterior element of the axis is rarely described in the literature. We describe a unique case of agenesis of posterior elements of C2 with craniovertebral junction anomalies consisting of osseous, vascular, and soft tissue anomalies. A 26-year-old man presented with symptoms of upper cervical myelopathy of 12 months' duration. A computed tomography scan of the cervical spine including the craniovertebral junction revealed spondylolisthesis of C2 over C3, atlantoaxial dislocation, occipitalization of the atlas, hypoplasia of the odontoid, and cleft posterior C1 arch. Additionally, the axis vertebra was found devoid of its posterior elements except bilaterally rudimentary pedicles. Magnetic resonance imaging revealed tonsilar herniation, suggesting associated Chiari type I malformation. CT angiogram of the vertebral arteries displayed persistent bilateral first intersegmental arteries crossing the posterior aspect of the C1/2 facet joint. This patient underwent foramen magnum decompression, C3 laminectomy with occipito-C3/C4 posterior fusion using screw and rod to maintain the cervical alignment and stability. We report this rare constellation of congenital craniovertebral junction anomaly and review the relevant literature. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Participation and quality of life in children and adolescents with congenital limb deficiencies: A narrative review.

    PubMed

    Michielsen, Anka; Van Wijk, Iris; Ketelaar, Marjolijn

    2010-12-01

    Children and adolescents with congenital limb deficiencies are visibly and physically different from their peers. They present limitations in activities, depending on the severity of deficiency. Therefore they are at risk for lower participation in social and leisure activities. This might negatively influence the perception on their quality of life. The aim of this narrative review is to describe participation and quality of life in children with congenital limb deficiencies. Participation and quality of life are relatively new concepts. Psychosocial functioning, being closely related to the concept of quality of life, is described as well. A comprehensive review of the literature was conducted on participation, quality of life and psychosocial functioning in children and adolescents with congenital limb deficiencies. The review involved a systematic search using multiple data sources. Fifteen cross-sectional studies were included in this review. The literature to date provides limited knowledge on how children and adolescents with congenital limb deficiencies participate and how they perceive their quality of life. The psychosocial functioning, although described as at risk, appears to be comparable to healthy peers. In conclusion, more research is needed on how children and adolescents with congenital limb deficiencies participate and how they perceive their quality of life. A broader perspective will not only help parents in making the right choices for their children, but can also have implications for health care providers, teachers and agencies funding rehabilitation services.

  17. Does maternal exposure to benzene and PM10 during pregnancy increase the risk of congenital anomalies? A population-based case-control study.

    PubMed

    Vinceti, Marco; Malagoli, Carlotta; Malavolti, Marcella; Cherubini, Andrea; Maffeis, Giuseppe; Rodolfi, Rossella; Heck, Julia E; Astolfi, Gianni; Calzolari, Elisa; Nicolini, Fausto

    2016-01-15

    A few studies have suggested an association between maternal exposure to ambient air pollution from vehicular traffic and risk of congenital anomalies in the offspring, but epidemiologic evidence is neither strong nor entirely consistent. In a population-based case-control study in a Northern Italy community encompassing 228 cases of birth defects and 228 referent newborns, we investigated if maternal exposure to PM10 and benzene from vehicular traffic during early pregnancy, as estimated through a dispersion model, was associated with excess teratogenic risk. In conditional logistic regression analysis, and with adjustment for the other pollutant, we found that higher exposure to PM10 but not benzene was associated with increased risk of birth defects overall. Anomaly categories showing the strongest dose-response relation with PM10 exposure were musculoskeletal and chromosomal abnormalities but not cardiovascular defects, with Down syndrome being among the specific abnormalities showing the strongest association, though risk estimates particularly for the less frequent defects were statistically very unstable. Further adjustment in the regression model for potential confounders did not considerably alter the results. All the associations were stronger for average levels of PM10 than for their maximal level. Findings of this study give some support for an excess teratogenic risk following maternal exposure during pregnancy to PM10, but not benzene. Such association appears to be limited to some birth defect categories.

  18. Does maternal exposure to benzene and PM10 during pregnancy increase the risk of congenital anomalies? A population-based case-control study

    PubMed Central

    Vinceti, Marco; Malagoli, Carlotta; Malavolti, Marcella; Cherubini, Andrea; Maffeis, Giuseppe; Rodolfi, Rossella; Heck, Julia E.; Astolfi, Gianni; Calzolari, Elisa; Nicolini, Fausto

    2015-01-01

    A few studies have suggested an association between maternal exposure to ambient air pollution from vehicular traffic and risk of congenital anomalies in the offspring, but epidemiologic evidence is neither strong nor entirely consistent. In a population-based case-control study in a Northern Italy community encompassing 228 cases of birth defects and 228 referent newborns, we investigated if maternal exposure to PM10 and benzene from vehicular traffic during early pregnancy, as estimated through a dispersion model, was associated with excess teratogenic risk. In conditional logistic regression analysis, and with adjustment for the other pollutant, we found that higher exposure to PM10 but not benzene was associated with increased risk of birth defects overall. Anomaly categories showing the strongest dose-response relation with PM10 exposure were musculoskeletal and chromosomal abnormalities but not cardiovascular defects, with Down syndrome being among the specific abnormalities showing the strongest association, though risk estimates particularly for the less frequent defects were statistically very unstable. Further adjustment in the regression model for potential confounders did not considerably alter the results. All the associations were stronger for average levels of PM10 than for their maximal level. Findings of this study give some support for an excess teratogenic risk following maternal exposure during pregnancy to PM10, but not benzene. Such association appears to be limited to some birth defect categories. PMID:26410719

  19. Congenital Anomalies in Children of Mothers Taking Antiepileptic Drugs with and without Periconceptional High Dose Folic Acid Use: A Population-Based Cohort Study

    PubMed Central

    Ban, Lu; Fleming, Kate M.; Doyle, Pat; Smeeth, Liam; Hubbard, Richard B.; Fiaschi, Linda; Tata, Laila J.

    2015-01-01

    Background Antenatal antiepileptic drug (AED) use has been found to be associated with increased major congenital anomaly (CA) risks. However whether such AED-associated risks were different according to periconceptional high dose (5mg daily) folic acid supplementation is still unclear. Methods We included 258,591 singleton live-born children of mothers aged 15-44 years in 1990-2013 from The Health Improvement Network, a large UK primary care database. We identified all major CAs according to the European Surveillance of Congenital Anomalies classification. Absolute risks and adjusted odds ratios (aOR) were calculated comparing children of mothers prescribed AEDs to those without such prescriptions, stratified by folic acid prescriptions around the time of conception (one month before conception to two months post-conception). Results CA risk was 476/10,000 in children of mothers with first trimester AEDs compared with 269/10,000 in those without AEDs equating to an aOR of 1.82, 95% confidence interval 1.30-2.56. The highest system-specific risks were for heart anomalies (198/10,000 and 79/10,000 respectively, aOR 2.49,1.47-4.21). Sodium valproate and lamotrigine were both associated with increased risks of any CA (aOR 2.63,1.46-4.74 and aOR 2.01,1.12-3.59 respectively) and system-specific risks. Stratification by folic acid supplementation did not show marked reductions in AED-associated risks (e.g. for CAs overall aOR 1.75, 1.01-3.03 in the high dose folic acid group and 1.94, 95%CI 1.21-3.13 in the low dose or no folic acid group); however, the majority of mothers taking AEDs only initiated high dose folic acid from the second month of pregnancy. Conclusions Children of mothers with AEDs in the first trimester of pregnancy have a 2-fold increased risk of major CA compared to those unexposed. We found no evidence that prescribed high dose folic acid supplementation reduced such AED-associated risks. Although statistical power was limited, prescribing of folic

  20. The role of religion in decision-making on antenatal screening of congenital anomalies: a qualitative study amongst Muslim Turkish origin immigrants.

    PubMed

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

    2014-03-01

    to explore what role religious beliefs of pregnant Muslim women play in their decision-making on antenatal screening, particularly regarding congenital abnormalities and termination, and whether their interpretations of the religious doctrines correspond to the main sources of Islam. qualitative pilot study using in-depth interviews with pregnant Muslim women. one midwifery practice in a medium-sized city near Amsterdam participated in the study. 10 pregnant Muslim women of Turkish origin who live in a high density immigrant area and who attended primary midwives for antenatal care were included in the study. to explore the role of religion in decision-making on antenatal screening tests, a topic list was constructed, including four subjects: being a (practising) Muslim, the view on unborn life, the view on disabled life and the view on termination. To analyse the interviews, open and axial coding based on the Grounded Theory was used and descriptive and analytical themes were identified and interpreted. all 10 interviewees stated that their faith played a role in their decision-making on antenatal screening, specific to the combined test. They did not consider congenital anomalies as a problem and did not consider termination to be an option in case of a disabled fetus. However, the Islamic jurisprudence considers that termination is allowed if the fetus has serious abnormalities, but only before 19 weeks plus one day of gestation. religious convictions play a role regarding antenatal screening in pregnant Muslim women of Turkish origin. The interviewees did not consider a termination in case of an affected child. Women were unaware that within Islamic tradition there is the possibility of termination if a fetus has serious anomalies. Incomplete knowledge of religious doctrines may be influencing both decisions of antenatal screening and diagnostic tests uptake and of terminating a pregnancy for fetuses with serious anomalies. counsellors should be aware of the

  1. Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review

    PubMed Central

    Shanmugasundaram, Karpagavalli; Ganapathy, Sivadas; Sathish, Sivan; Satti, Parvathi

    2016-01-01

    Hemifacial hyperplasia is a rare congenital malformation characterized by noticeable unilateral excess development of hard and soft tissues of the face. Asymmetry in Congenital Hemifacial Hyperplasia (CHH) is usually evident at birth and accentuated at the age of puberty. The affected side grows exponentially as compared to the unaffected side. Multiple tissue involvement has resulted due to etiological heterogeneity like heredity, chromosomal abnormalities, altered intrauterine environment, and endocrine dysfunctions. As this lesion is rarely seen in our routine clinical practice, we present a case of hemifacial hyperplasia with reported orofacial features that supplement existing clinical knowledge. This paper also adds knowledge to the readers regarding detailed investigation procedures which has complemented our diagnosis. Further emphasis has been placed on periodic approach to its diagnosis and multidisciplinary management following correct diagnosis. PMID:27843653

  2. Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review.

    PubMed

    Shanmugasundaram, Karpagavalli; Vedam, V K Vaishnavi; Ganapathy, Sivadas; Sathish, Sivan; Satti, Parvathi

    2016-01-01

    Hemifacial hyperplasia is a rare congenital malformation characterized by noticeable unilateral excess development of hard and soft tissues of the face. Asymmetry in Congenital Hemifacial Hyperplasia (CHH) is usually evident at birth and accentuated at the age of puberty. The affected side grows exponentially as compared to the unaffected side. Multiple tissue involvement has resulted due to etiological heterogeneity like heredity, chromosomal abnormalities, altered intrauterine environment, and endocrine dysfunctions. As this lesion is rarely seen in our routine clinical practice, we present a case of hemifacial hyperplasia with reported orofacial features that supplement existing clinical knowledge. This paper also adds knowledge to the readers regarding detailed investigation procedures which has complemented our diagnosis. Further emphasis has been placed on periodic approach to its diagnosis and multidisciplinary management following correct diagnosis.

  3. Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children.

    PubMed

    He, Huan; Sun, Feifei; Ren, Weidong; Wang, Yonghuai; Xu, Shu

    2016-10-01

    Unilateral lung agenesis, a rare congenital deformity, is secondary to abnormal embryonic development, leading to a shift of the mediastinum and remaining lung. In our case reports, we describe the diagnostic courses of two pediatric patients with unilateral lung agenesis admitted to our hospital in 2014. We present and compare the findings in transthoracic echocardiography with that in CT. Echocardiography played a pivotal role in revealing pulmonary deformities and leading to the diagnosis. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:514-517, 2016.

  4. Maritime Anomaly Detection: Domain Introduction and Review of Selected Literature

    DTIC Science & Technology

    2011-10-01

    operators, not to fully replace them. The amount of data that enters a system is typically astronomical , and a single person cannot manage and...2.3.2.2. Natural language processing The use of structured data is very common today. However, a huge portion of the relevant data is in...Current gaps in MAD are identified from the data and information, processing and systems perspectives. The selected literature review is structured

  5. Congenital acinar dysplasia: report of a case and review of literature.

    PubMed

    Langenstroer, Mary; Carlan, S J; Fanaian, Naim; Attia, Suzanna

    2013-05-01

    Objective Describe a case of congenital acinar dysplasia and review the literature. Study Design Retrospective chart review and literature search. Results Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment and derangement of the acinar and alveolar architecture of the lungs, resulting in the complete absence of gas exchanging units. The growth-arrested lung tissue resembles the pseudoglandular phase of 16 weeks' gestation. The etiology is unknown. It is diagnosed by exclusion of all other causes of pulmonary hypoplasia and a summation of clinical, imaging, and histopathologic findings. Conclusion There is no cure and clinical treatment is supportive until death of the infant. We present a case of congenital acinar dysplasia in a male infant who lived 20 days with intensive support.

  6. Congenital Acinar Dysplasia: Report of a Case and Review of Literature

    PubMed Central

    Langenstroer, Mary; Carlan, S.J.; Fanaian, Naim; Attia, Suzanna

    2012-01-01

    Objective Describe a case of congenital acinar dysplasia and review the literature. Study Design Retrospective chart review and literature search. Results Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment and derangement of the acinar and alveolar architecture of the lungs, resulting in the complete absence of gas exchanging units. The growth-arrested lung tissue resembles the pseudoglandular phase of 16 weeks' gestation. The etiology is unknown. It is diagnosed by exclusion of all other causes of pulmonary hypoplasia and a summation of clinical, imaging, and histopathologic findings. Conclusion There is no cure and clinical treatment is supportive until death of the infant. We present a case of congenital acinar dysplasia in a male infant who lived 20 days with intensive support. PMID:23943701

  7. Hearing and neurodevelopmental outcomes for children with asymptomatic congenital cytomegalovirus infection: A systematic review.

    PubMed

    Bartlett, Adam W; McMullan, Brendan; Rawlinson, William D; Palasanthiran, Pamela

    2017-09-06

    Congenital CMV is one of the commonest congenital infections and a recognised cause of sensorineural hearing loss and neurodevelopmental impairment. Ninety percent are clinically inapparent at birth but are reported to be at risk of developing such abnormalities throughout childhood, the extent of which requires further elucidation. A systematic literature review was conducted using Medline and Embase databases, manual citation review, and personal libraries for articles reporting primary data on hearing and neurodevelopmental outcomes for children with asymptomatic congenital CMV. PROSPERO registration number CRD42015025407. Thirty-seven of 480 articles identified between 1969 and 2016 met the eligibility criteria. Twenty-nine of these contributed primary data on hearing outcomes and 20 on neurodevelopmental outcomes (12 of the 37 studies contributed data on both). Cumulative incidence of sensorineural hearing loss with follow-up to at least 5 years was 7% to 11%, which is more than healthy controls but less than children with symptomatic congenital CMV (34%-41%). The onset, course, and severity of hearing loss was variable with no reliable virological prognostic marker. In comparison to controls, children with asymptomatic congenital CMV did not perform worse than controls in neurodevelopmental assessments and performed better than children with symptomatic congenital CMV. Studies show children with asymptomatic congenital CMV are at increased risk of developing hearing loss but perform equally well on neurodevelopmental assessments when compared with healthy controls. There is no reliable virological marker to determine which infants will develop sequelae. Regular follow-up until school entry is supported by the literature. Copyright © 2017 John Wiley & Sons, Ltd.

  8. A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.

    PubMed

    Poot, Martin; Hochstenbach, Ron

    2010-08-01

    One of the aims of clinical genetics is to identify gene mutations or genomic rearrangements that may underlie complex presentations of phenotypic features, such as multiple congenital malformations and mental retardation. During the decade after publication of the first article on array-based comparative genome hybridization, this technique has supplemented karyotyping as the prime genome-wide screening method in patients with idiopathic multiple congenital malformations and mental retardation. The use of this novel, discovery-based, approach has dramatically increased the detection rate of genomic imbalances. Array-based comparative genome hybridization detects copy number changes in the genome of patients and healthy subjects, some of which may represent phenotypically neutral copy number variations. This prompts the need for properly distinguishing between those copy number changes that may contribute to the clinical phenotype amid a pool of neutral copy number variations. We briefly review the characteristics of copy number changes in relation to their clinical relevance. Second, we discuss several published workflow schemes to identify copy number changes putatively contributing to the phenotype, and third, we propose a three-step procedure aiming to rapidly evaluate copy number changes on a case-by-case basis as to their potential contribution to the phenotype of patients with idiopathic multiple congenital malformations and mental retardation. This workflow is gene-centered and should aid in identification of disease-related candidate genes and in estimating the recurrence risk for the disorder in the family.

  9. Maternal environmental risk factors for congenital hydrocephalus: a systematic review.

    PubMed

    Kalyvas, Aristotelis V; Kalamatianos, Theodosis; Pantazi, Mantha; Lianos, Georgios D; Stranjalis, George; Alexiou, George A

    2016-11-01

    OBJECTIVE Congenital hydrocephalus (CH) is one of the most frequent CNS congenital malformations, representing an entity with serious pathological consequences. Although several studies have previously assessed child-related risk factors associated with CH development, there is a gap of knowledge on maternal environmental risk factors related to CH. The authors have systematically assessed extrinsic factors in the maternal environment that potentially confer an increased risk of CH development. METHODS The Cochrane Library, MEDLINE, and EMBASE were systematically searched for works published between 1966 and December 2015 to identify all relevant articles published in English. Only studies that investigated environmental risk factors concerning the mother-either during gestation or pregestationally-were included. RESULTS In total, 13 studies (5 cohorts, 3 case series, 3 case-control studies, 1 meta-analysis, and 1 case report) meeting the inclusion criteria were identified. Maternal medication or alcohol use during gestation; lifestyle modifiable maternal pathologies such as obesity, diabetes, or hypertension; lack of prenatal care; and a low socioeconomic status were identified as significant maternal environmental risk factors for CH development. Maternal infections and trauma to the mother during pregnancy have also been highlighted as potential mother-related risk factors for CH. CONCLUSIONS Congenital hydrocephalus is an important cause of serious infant health disability that can lead to health inequalities among adults. The present study identified several maternal environmental risk factors for CH, thus yielding important scientific information relevant to prevention of some CH cases. However, further research is warranted to confirm the impact of the identified factors and examine their underlying behavioral and/or biological basis, leading to the generation of suitable prevention strategies.

  10. A review of primary congenital glaucoma in the developing world.

    PubMed

    Moore, Daniel B; Tomkins, Oren; Ben-Zion, Itay

    2013-01-01

    Primary congenital glaucoma is the most common type of infantile glaucoma, yet it remains a relatively rare disease. Treatment is principally surgical, and management lasts a lifetime. In the developing world, delayed diagnosis, limited treatment, and inadequate follow-up lead to a heavier burden on the patient and community. We highlight the epidemiology and genetics of the disease, its current management and prognosis, and the limitations facing both providers and patients in the developing world. Further efforts are necessary to provide effective, timely screening of children and allocate adequate resources to allow health care workers to reduce the rate of avoidable blindness in developing countries.

  11. Congenital abnormalities and multiple sclerosis.

    PubMed

    Ramagopalan, Sreeram V; Guimond, Colleen; Criscuoli, Maria; Dyment, David A; Orton, Sarah-Michelle; Yee, Irene M; Ebers, George C; Sadovnick, Dessa

    2010-11-16

    There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a non-fatal congenital anomaly. We investigated whether or not congenital anomalies are associated with MS in a population-based cohort. We identified 7063 MS index cases and 2655 spousal controls with congenital anomaly information from the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS). The frequency of congenital anomalies were compared between index cases and controls. No significant differences were found. Congenital anomalies thus do not appear to be associated with MS. However, we did not have complete data on types and severity of congenital anomalies or on maternal birth history and thus this study should be regarded as preliminary.

  12. Monozygotic triplets: concordance and discordance for cleft lip and palate / twin research reviews: depression in mothers of multiples; depression in mothers and fathers of ART conceived multiples; epigenetic differences in monozygotic twins; congenital anomalies in surviving twins / headlines x two: twin Chefs; the world's largest twin registry; twin table tennis champions.

    PubMed

    Segal, Nancy L

    2009-08-01

    A review of twin research on cleft lip and palate is presented. This information is accompanied by a look at the lives of young monozygotic (MZ) male triplets concordant for cleft lip, but discordant for the type and placement of the cleft and for the presence of cleft palate. Research on depression in mothers and fathers of twins conceived naturally and by artificial reproductive techniques follows. Current findings and implications of epigenetic differences in MZ twins are also summarized. Interesting life history events surrounding MZ twin chefs and table tennis players, as well as plans to construct the world's largest twin registry, are presented in the final section.

  13. Evaluation of a tissue-engineered bovine pericardial patch in paediatric patients with congenital cardiac anomalies: initial experience with the ADAPT-treated CardioCel® patch

    PubMed Central

    Neethling, William M.L.; Strange, Geoff; Firth, Laura; Smit, Francis E.

    2013-01-01

    OBJECTIVES This study evaluated the safety, efficacy and clinical performance of the tissue-engineered ADAPT® bovine pericardial patch (ABPP) in paediatric patients with a range of congenital cardiac anomalies. METHODS In this single-centre, prospective, non-randomized clinical study, paediatric patients underwent surgery for insertion of the ABPP. Primary efficacy measures included early (<30 day) morbidity; incidence of device-related complications; haemodynamic performance derived from echocardiography assessment at 6- and 12-month follow-up and magnetic resonance imaging findings in 10 randomly selected patients at 12 months. Secondary measures included device-handling characteristics; shape and sizing characteristics and perioperative implant complications. The Aristotle complexity scoring system was used to score the complexity level of all surgical procedures. Patients completing the 12-month study were eligible to enter a long-term evaluation study. RESULTS Between April 2008 and September 2009, the ABPP was used in 30 paediatric patients. In the 30-day postoperative period, no graft-related morbidity was observed. In total, there were 5 deaths (2 in the 30-day postoperative period and 3 within the first 6 postoperative months). All deaths were deemed due to comorbid non-graft-related events. Echocardiography assessment at 6 and 12 months revealed intact anatomical and haemodynamically stable repairs without any visible calcification of the patch. Magnetic resonance imaging assessment in 10 patients at 12 months revealed no signs of calcification. Fisher's exact test demonstrated that patients undergoing more complex, higher risk surgical repairs (Aristotle complexity score >8) were significantly more likely to die (P = 0.0055, 58% survival compared with 100% survival for less complex surgical repairs). In 19 patients, echocardiographic data were available at 18–36 months with no evidence of device calcification, infection, thromboembolic events or

  14. Congenital anomalies among live births in a high environmental risk area--a case-control study in Brindisi (southern Italy).

    PubMed

    Gianicolo, Emilio Antonio Luca; Mangia, Cristina; Cervino, Marco; Bruni, Antonella; Andreassi, Maria Grazia; Latini, Giuseppe

    2014-01-01

    Maternal exposure to ambient pollution has been increasingly linked to the risk of congenital anomalies (CAs) in the fetus and newborns. Recently, a descriptive study in the high environmental risk city of Brindisi (Italy) revealed an increased prevalence of total CAs, especially congenital heart disease (CHD) and ventricular septal defects (VSDs), both at the local level and in comparison with the pool of EUROCAT registries.