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Sample records for congenital anomalies review

  1. Congenital anomalies of kidney and hand: a review

    PubMed Central

    Natarajan, Gopalakrishnan; Jeyachandran, Dhanapriya; Subramaniyan, Bala; Thanigachalam, Dineshkumar; Rajagopalan, Arul

    2013-01-01

    ‘Acro-renal syndrome’ refers to co-occurrence of congenital renal and limb anomalies. The term acro-renal syndrome was coined by Curran et al. in 1972 though Dieker and Opitz were the first to report this phenomenon in three male patients in 1969. The common limb defects include oligodactyly, ectrodactyly, syndactyly or brachydactyly anomalies of the carpal and tarsal bones and the common renal anomalies observed are unilateral renal agenesis (URA), bilateral renal hypoplasia, ureteric hypoplasia, hydroureteronephrosis and duplication abnormalities. The acro-renal syndrome as originally described is rare, reported only in ∼20 patients in the international literature. We report a 23-year-old male patient with renal anomalies in the form of absent right kidney, left-sided vesicoureteric reflux (VUR) and skeletal anomalies viz short radius, absent first metacarpal ray in left hand and left undescended testis, consistent with Dieker's type acro-renal syndrome. Apart from the classical acro-renal syndrome, several anomalies of acro-renal patterns and the abnormal gene loci involved are described in the literature. This article is a comprehensive review of the development of kidneys, types of acro-renal syndromes, congenital anomalies of the kidney and urinary tract (CAKUT), syndromes associated with combined limb and renal anomalies, and anomalies associated with URA. PMID:26019842

  2. Congenital anomalies of kidney and hand: a review.

    PubMed

    Natarajan, Gopalakrishnan; Jeyachandran, Dhanapriya; Subramaniyan, Bala; Thanigachalam, Dineshkumar; Rajagopalan, Arul

    2013-04-01

    'Acro-renal syndrome' refers to co-occurrence of congenital renal and limb anomalies. The term acro-renal syndrome was coined by Curran et al. in 1972 though Dieker and Opitz were the first to report this phenomenon in three male patients in 1969. The common limb defects include oligodactyly, ectrodactyly, syndactyly or brachydactyly anomalies of the carpal and tarsal bones and the common renal anomalies observed are unilateral renal agenesis (URA), bilateral renal hypoplasia, ureteric hypoplasia, hydroureteronephrosis and duplication abnormalities. The acro-renal syndrome as originally described is rare, reported only in ∼20 patients in the international literature. We report a 23-year-old male patient with renal anomalies in the form of absent right kidney, left-sided vesicoureteric reflux (VUR) and skeletal anomalies viz short radius, absent first metacarpal ray in left hand and left undescended testis, consistent with Dieker's type acro-renal syndrome. Apart from the classical acro-renal syndrome, several anomalies of acro-renal patterns and the abnormal gene loci involved are described in the literature. This article is a comprehensive review of the development of kidneys, types of acro-renal syndromes, congenital anomalies of the kidney and urinary tract (CAKUT), syndromes associated with combined limb and renal anomalies, and anomalies associated with URA. PMID:26019842

  3. Congenital coronary arteries anomalies: review of the literature and multidetector computed tomography (MDCT)-appearance.

    PubMed

    Montaudon, M; Latrabe, V; Iriart, X; Caix, P; Laurent, F

    2007-07-01

    The prevalence of coronary arteries congenital anomalies is 1 to 2% in the general population. Although the spectrum of their clinical manifestations is very broad from total inocuity to lethal, anomalies of coronary arteries need to be recognized by clinicians in certain circumstances: they are the first cause of death in young adults under physical exercise and an abnormal course of a coronary artery can complicate a cardiac surgery. Therefore, a non-invasive test is highly suitable for detecting anomalies of coronary arteries and multidetector computed tomography (MDCT) is likely to be the best one. To understand how anomalies of coronary arteries may occur, we have reviewed the recent literature about their development. Then, the main types of anomalies are presented with their clinical context, and representative MDCT images from our personal database are used for illustration. PMID:17563833

  4. 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.

  5. Congenital Anomalies in Infant with Congenital Hypothyroidism

    PubMed Central

    Razavi, Zahra; Yavarikia, Alireza; Torabian, Saadat

    2012-01-01

    Objective Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. Methods The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life. Results A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males) were recruited during the period between May 2006-2010. Overall, 30 (20%) infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1%) had congenital cardiac anomalies such as: ASD (n=3), VSD (n=2), PS (n =1), PDA (n=1). Three children (2.6%) had developmental dysplasia of the hip (n=3). Conclusion The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies. PMID:23074545

  6. 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. Copyright © 2015 John Wiley & Sons, Ltd. PMID:26431249

  7. 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

  8. Congenital Anomalies of the Nose.

    PubMed

    Funamura, Jamie L; Tollefson, Travis T

    2016-04-01

    Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryologic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant cosmetic and functional consequences. Congenital anomalies of the nose can be categorized into four broad categories: (1) aplastic or hypoplastic, (2) hyperplastic or duplications, (3) clefts, and (4) nasal masses. Our knowledge of the embryologic origin of these anomalies helps dictate subsequent work-up for associated conditions, and the appropriate treatment or surgical approach to manage newborns and children with these anomalies. PMID:27097134

  9. 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. PMID:24409942

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

    PubMed Central

    Chen, Esther Kai-Chieh; Zmirou-Navier, Denis; Padilla, Cindy; Deguen, Séverine

    2014-01-01

    Congenital anomalies are the main causes of preterm and neonatal mortality and morbidity. We investigated the association between congenital anomalies and mothers’ exposure to air pollution during pregnancy by combining risk estimates for a variety of air pollutants (SO2, NO2, PM10, PM2.5, CO and O3) and anomaly defect outcomes. Seventeen articles were included in the systematic review and thirteen studies were taken into account in the meta-analysis. Combined estimated were calculated separately according to whether the exposure metric was continuous or categorical. Only one significant combination was; NO2 concentrations were significantly associated with coarctation of the aorta (OR = 1.20 per 10 ppb, 95% CI, (1.02, 1.41)). This finding could stem from strong heterogeneity in study designs. Improved exposure assessment methods, in particular more accurate spatial measurements or modeling, standardized definition of cases and of better control of confounders are highly recommended for future congenital anomalies research in this area. PMID:25089772

  11. Congenital anomalies after assisted reproductive technology.

    PubMed

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

    2013-02-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize the literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also be discussed. PMID:23290686

  12. Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).

    PubMed

    Bedard, Tanya; Lowry, Robert Brian; Sibbald, Barbara; Kiefer, Gerhard N; Metcalfe, Amy

    2015-11-01

    The birth prevalence of limb deficiencies in Alberta has been fluctuating. The objectives were to examine patterns and temporal trends of congenital limb deficiencies in Alberta and compare rates with those of other jurisdictions. The Alberta Congenital Anomalies Surveillance System data on live births, stillbirths, and terminations of pregnancy (<20 weeks gestation) occurring between 1980 through 2012 with the ICD-10 Royal College of Paediatrics and Child Health Adaptations codes Q71-Q73 (limb reduction defects), Q79.80 (congenital constriction bands), and Q87.24 (sirenomelia syndrome) were reviewed. Cases were classified as having amelia, transverse, longitudinal (preaxial, postaxial, central, or mixed), intercalary, split hand/split foot, complex, or other type of limb deficiency. Phenotypes were classified as associated, which included cases with a known etiology and cases with at least one other type of anomaly, or isolated. From 1980 through 2012, 795 cases were ascertained from 1,411,652 live births and stillbirths, giving a prevalence of 5.6/10,000 total births. Mixed longitudinal deficiencies were the most common (22.4%). The upper limbs (63.9%) were affected more often than the lower limbs (25.3%). Isolated limb deficiencies occurred in 43.6% of cases, 28.4% had Mendelian or other known conditions, 21.9% had multiple congenital anomalies, 5.4% had chromosome abnormalities and 0.6% were due to teratogens. The associated group, showed a significant increasing trend (P =  0.023). While the overall limb deficiency rates show very little differences across diverse populations and differing time periods, comparisons of subgroups should be made with caution, because variations in terminology and classification contribute to reported differences. PMID:26171959

  13. The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

    PubMed

    Couser, Natario L; Masood, Maheer M; Strande, Natasha T; Foreman, Ann Katherine M; Crooks, Kristy; Weck, Karen E; Lu, Mei; Wilhelmsen, Kirk C; Roche, Myra; Evans, James P; Berg, Jonathan S; Powell, Cynthia M

    2015-09-01

    The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. He also had supernumerary nipples, pectus excavatum, a short upturned nose, fleshy ear lobes, and a right auricular pit. Massively parallel exome sequencing and analysis revealed two novel compound heterozygous missense (Trp136Gly and Ser859Thr) variants in the PIGN gene. This report extends and further defines the phenotype of this syndrome. PMID:25920937

  14. 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

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

    PubMed

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

    2016-07-18

    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

  16. 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

  17. Acardiac anceps: a rare congenital anomaly

    PubMed Central

    Nigam, Aruna; Agarwal, Rohini; Saxena, Pikee; Barla, Jaya

    2014-01-01

    Acardiac twin is a rare congenital anomaly and is exclusively associated with monochorionic twin pregnancies. The abnormalities occur due to abnormal communication between the two fetuses in the form of arterioarterial and venovenous communications, resulting in a grossly abnormal acardiac twin with reduction anomalies mainly of the upper body and gross oedema. Since no two acardiac twins are alike, this case report will add to the acardiac twin anomaly spectrum. PMID:24717594

  18. 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. PMID:25497206

  19. Congenital cardiac anomalies in an English bulldog.

    PubMed

    McConkey, Marina J

    2011-11-01

    A 4-year-old male castrated English bulldog was referred to the Atlantic Veterinary College for evaluation of exercise intolerance, multiple syncopal episodes, and a grade IV/VI heart murmur. The dog was shown to have 3 congenital cardiac anomalies: atrial septal defect, mitral valve dysplasia, and subaortic stenosis. Medical management consisted of exercise restriction, atenolol, pimobendan, and taurine. PMID:22547849

  20. Congenital optic nerve anomalies and hereditary optic neuropathies

    PubMed Central

    Heidary, Gena

    2014-01-01

    Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant.

  1. Multidetector computed tomography imaging of congenital anomalies of major airways: A pictorial essay.

    PubMed

    Sundarakumar, Dinesh Kumar; Bhalla, Ashu Seith; Sharma, Raju; Gupta, Arun Kumar; Kabra, Susheel Kumar; Jagia, Priya

    2011-12-28

    Congenital airway anomalies can be asymptomatic or may cause severe respiratory distress requiring immediate treatment. These anomalies can present early in life, or may be just incidental findings. It is important to recognize these entities to realize their clinical significance and to avoid false diagnosis. In this article, the various congenital airway anomalies and their imaging features by multidetector computed tomography (MDCT) are reviewed in order of occurrence during the embryological timeline. This pictorial essay reviews the various distinct congenital airway lesions and their MDCT manifestations. It also provides insight into the embryological basis of the congenital airway lesions encountered. PMID:22224177

  2. 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

  3. 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

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

    PubMed

    Rodriguez, Maria M

    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

  5. 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

  6. Prevalence of minor musculoskeletal anomalies in children with congenital hypothyroidism.

    PubMed

    El Kholy, Mohamed; Fahmi, Marwa E; Nassar, Ayman E; Selim, Samia; Elsedfy, Heba H

    2007-01-01

    In the last decade a high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in a cohort of children with confirmed primary CH due to thyroid dysgenesis was investigated. A high prevalence of extrathyroidal major congenital anomalies (15.9%), more than 5-fold higher than that reported in the Egyptian population (2.7%), was found. The cardiac and musculoskeletal systems were the most commonly involved, comprising 9.09 and 47.72% of all anomalies, respectively. The high prevalence of musculoskeletal anomalies in this study was mostly due to minor anomalies as brachydactyly and digitalization of thumbs. The type of dysgenesis (i.e. aplastic, ectopic or hypoplastic) as well as the severity of hypothyroidism, as assessed by TSH and T(4) levels at diagnosis, had no relation with the occurrence of extrathyroidal abnormalities. PMID:17587855

  7. Multiple congenital ocular anomalies in Icelandic horses

    PubMed Central

    2011-01-01

    Background Multiple congenital ocular anomalies (MCOA) syndrome is a hereditary congenital eye defect that was first described in Silver colored Rocky Mountain horses. The mutation causing this disease is located within a defined chromosomal interval, which also contains the gene and mutation that is associated with the Silver coat color (PMEL17, exon 11). Horses that are homozygous for the disease-causing allele have multiple defects (MCOA-phenotype), whilst the heterozygous horses predominantly have cysts of the iris, ciliary body or retina (Cyst-phenotype). It has been argued that these ocular defects are caused by a recent mutation that is restricted to horses that are related to the Rocky Mountain Horse breed. For that reason we have examined another horse breed, the Icelandic horse, which is historically quite divergent from Rocky Mountain horses. Results We examined 24 Icelandic horses and established that the MCOA syndrome is present in this breed. Four of these horses were categorised as having the MCOA-phenotype and were genotyped as being homozygous for the PMEL17 mutation. The most common clinical signs included megaloglobus, iris stromal hypoplasia, abnormal pectinate ligaments, iridociliary cysts occasionally extending into the peripheral retina and cataracts. The cysts and pectinate ligament abnormalities were observed in the temporal quadrant of the eyes. Fourteen horses were heterozygous for the PMEL17 mutation and were characterized as having the Cyst-phenotype with cysts and occasionally curvilinear streaks in the peripheral retina. Three additional horses were genotyped as PMEL17 heterozygotes, but in these horses we were unable to detect cysts or other forms of anomalies. One eye of a severely vision-impaired 18 month-old stallion, homozygous for the PMEL17 mutation was examined by light microscopy. Redundant duplication of non-pigmented ciliary body epithelium, sometimes forming cysts bulging into the posterior chamber and localized areas of

  8. Marrow hypoplasia associated with congenital neurologic anomalies in two siblings.

    PubMed

    Drachtman, R; Weinblatt, M; Sitarz, A; Gold, A; Kochen, J

    1990-10-01

    Two siblings with congenital neurologic structural anomalies and delayed-onset selective bone marrow hypoplasia in a previously undescribed constellation of symptoms are presented. Differences between these cases and other well known syndromes are discussed. The importance of this association is the implication that children with congenital neurologic abnormalities may be at increased risk for the development of hypoplastic hematopoietic conditions. PMID:2264478

  9. Fetal ascites and hydrometrocolpos due to persistent urogenital sinus and cloaca: a rare congenital anomaly and review of literature.

    PubMed

    Nigam, Aruna; Kumar, Manisha; Gulati, Shilpa

    2014-01-01

    Fetal ascites can occur due to many heterogeneous disorders. Its association with hydrometrocolpos because of persistent urogenital sinus and cloaca is extremely rare. A 29-year-old primigravida presented at 32 weeks of gestation with ultrasonographic evidence of fetal ascites, a cystic pelvic mass, hydronephrosis and oligohydramnios. Fetal ascites in this case was due to fetal urine draining through fallopian tubes into the abdomen as a result of vesicovaginal fistula and distal vaginal atresia. The antenatal ultrasound results along with autopsy findings are discussed. Though rare, a persistent urogenital sinus is to be suspected in isolated fetal ascites cases where the viral tests are negative and there is no evidence of cardiac anomalies as this is a treatable anomaly if diagnosed at early gestational age. PMID:24554677

  10. Fetal ascites and hydrometrocolpos due to persistent urogenital sinus and cloaca: a rare congenital anomaly and review of literature

    PubMed Central

    Nigam, Aruna; Kumar, Manisha; Gulati, Shilpa

    2014-01-01

    Fetal ascites can occur due to many heterogeneous disorders. Its association with hydrometrocolpos because of persistent urogenital sinus and cloaca is extremely rare. A 29-year-old primigravida presented at 32 weeks of gestation with ultrasonographic evidence of fetal ascites, a cystic pelvic mass, hydronephrosis and oligohydramnios. Fetal ascites in this case was due to fetal urine draining through fallopian tubes into the abdomen as a result of vesicovaginal fistula and distal vaginal atresia. The antenatal ultrasound results along with autopsy findings are discussed. Though rare, a persistent urogenital sinus is to be suspected in isolated fetal ascites cases where the viral tests are negative and there is no evidence of cardiac anomalies as this is a treatable anomaly if diagnosed at early gestational age. PMID:24554677

  11. ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA.

    PubMed

    Stoll, C; Alembik, Y; Dott, B; Roth, M P

    2015-01-01

    Cases with congenital diaphragmatic hernia (CDH) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CDH in a defined population. The anomalies associated with CDH were collected in all live births, stillbirths and terminations of pregnancy during 29 years in 386,088 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 139 cases with CDH born during this period (total prevalence of 3.60 per 10,000), 85 (61.2%) had associated major anomalies. There were 25 (18.0%) cases with chromosomal abnormalities including 12 trisomies 18, and 24 (17.3%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but Fryns syndrome. However, other recognized dysmorphic conditions were registered including fetal alcohol syndrome, de Lange syndrome, sequences (laterality sequence and ectopia cordis), and complexes (limb body wall complex). Thirty six (25.9%) of the cases had non syndromic multiple congenital anomalies (MCA). Anomalies of the cardiovascular system (n = 53, 27.5%), the urogenital system (n = 34, 17.6%), the musculoskeletal system (n = 29, 15.0%), and the central nervous system (n = 19, 9.8%) were the most common other congenital anomalies. We observed specific patterns of anomalies associated with CDH which emphasizes the need to evaluate all patients with CDH for possible associated malformations. In conclusion the overall prevalence of associated anomalies, which was close to two in three infants, emphasizes the need for a thorough investigation of cases with CDH. A routine screening for other anomalies may be considered in infants and in fetuses with CDH. One should be aware that the anomalies associated with CDH can be classified into a recognizable anomaly, syndrome or pattern in more than one out of two cases with CDH. PMID:26625659

  12. 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

  13. Assessment of Congenital Anomalies in Infants Born to Pregnant Women Enrolled in Clinical Trials

    PubMed Central

    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.

    2014-01-01

    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. PMID:25425721

  14. Congenital anomalies of the genitourinary system can help in diagnosis of the primary site of metastatic cancer: a case report and a review of the literature

    PubMed Central

    Deptala, Andrzej; Romanowicz, Agnieszka; Czerw, Aleksandra; Walecki, Jerzy; Rogowski, Wojciech; Nasierowska-Guttmejer, Anna

    2016-01-01

    Objective To analyze whether the presence of congenital anomalies of the genitourinary system that are accompanied by specific types of cancer and predispose patients to many complications, including infection, obstruction, stasis, calculus formation, and impaired renal function, could help in the diagnosis of the primary site of a metastatic tumor. Case presentation We report a case of a 58-year-old man with metastatic adenocarcinoma, in whom congenital anomalies of the genitourinary system proved helpful for the diagnosis of the primary site of cancer originating in the seminal vesicles. Conclusion We report an extremely rare case of primary adenocarcinoma arising probably from the left seminal vesicle associated with ipsilateral renal agenesis. The lesion was detected on ultrasound and contrast-enhanced computed tomography and confirmed histologically with ultrasound-guided biopsy. Serum markers, ie, CA19-9 and CA125, were elevated, while prostate-specific antigen and carcinoembryonic antigen were within normal limits. Such a constellation of markers strengthened the diagnosis. Our patient unfortunately presented very late in the course of the disease. Hence, we decided to initiate antiandrogen therapy and best supportive care in a hospice setting. Only early detection seems to be the key factor that may result in improved cure rates for cancer of the seminal vesicles. We also performed a literature search for current concepts related to the diagnosis and clinical management of primary adenocarcinoma of seminal vesicles. PMID:27499637

  15. 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. PMID:27191932

  16. 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. PMID:26026722

  17. Identifying, characterizing, and classifying congenital anomalies of the coronary arteries.

    PubMed

    Shriki, Jabi E; Shinbane, Jerold S; Rashid, Mollie A; Hindoyan, Antereas; Withey, James G; DeFrance, Anthony; Cunningham, Mark; Oliveira, George R; Warren, Bill H; Wilcox, Alison

    2012-01-01

    The clinical manifestations of coronary artery anomalies vary in severity, with some anomalies causing severe symptoms and cardiovascular sequelae and others being benign. Cardiovascular computed tomography (CT) has emerged as the standard of reference for identification and characterization of coronary artery anomalies. Therefore, it is important for the reader of cardiovascular CT images to be thoroughly familiar with the spectrum of coronary artery anomalies. Hemodynamically significant anomalies include atresia, origin from the pulmonary artery, interarterial course, and congenital fistula. Non-hemodynamically significant anomalies include duplication; high origin; a prepulmonic, transseptal, or retroaortic course; shepherd's crook right coronary artery; and systemic termination. In general, coronary arteries with an interarterial course are associated with an increased risk of sudden cardiac death. Coronary artery anomalies that result in shunting, including congenital fistula and origin from the pulmonary artery, are also commonly symptomatic and may cause steal of blood from the myocardium. Radiologists should be familiar with each specific variant and its specific constellation of potential implications. PMID:22411942

  18. Disparities in Infant Mortality Due to Congenital Anomalies on Guam

    PubMed Central

    Namazi, Sara; Haddock, Robert L

    2015-01-01

    In the 1970's and 1980's, there were large inter-village disparities in infant mortality due to congenital anomalies on Guam. A village-level analysis was conducted to determine if these disparities can be explained by behavioral (ie, median age of village females, village fertility ratio), structural (ie, population density, persons per household, single mother households per village, married females per village), and environmental (ie, living in a village where Agent Orange (AO) spraying was conducted) factors. Village-level data for live births and infant mortality due to congenital anomalies (1970–1989) was collected from Guam's Office of Vital Statistics. Data on median age of village females, village fertility ratio, population density, persons per household, single mother households, and married females were obtained from the 1980 US Census. Estimates of village-level AO use were provided through personal communications, and villages were dichotomized into AO and non-AO spray areas. Village location was classified by usual residence of the mother. Linear regression was used to determine associations between infant mortality due to congenital anomalies and the behavioral, structural, and environmental factors. The association between AO spray area and infant mortality due to congenital anomalies was statistically significant under univariable (B [95%CI] = 1.88 [0.64,3.11], P = .005) and multivariable conditions (B [95%CI] = 2.02 [0.08,3.96], P = .042). These results suggest that infants born to mothers whose usual residence was in an AO spray area on Guam are at an increased risk of mortality due to congenital anomalies. Further studies using individual-level data are needed to validate these results. PMID:26668770

  19. Disparities in Infant Mortality Due to Congenital Anomalies on Guam.

    PubMed

    Noel, Jonathan K; Namazi, Sara; Haddock, Robert L

    2015-12-01

    In the 1970's and 1980's, there were large inter-village disparities in infant mortality due to congenital anomalies on Guam. A village-level analysis was conducted to determine if these disparities can be explained by behavioral (ie, median age of village females, village fertility ratio), structural (ie, population density, persons per household, single mother households per village, married females per village), and environmental (ie, living in a village where Agent Orange (AO) spraying was conducted) factors. Village-level data for live births and infant mortality due to congenital anomalies (1970-1989) was collected from Guam's Office of Vital Statistics. Data on median age of village females, village fertility ratio, population density, persons per household, single mother households, and married females were obtained from the 1980 US Census. Estimates of village-level AO use were provided through personal communications, and villages were dichotomized into AO and non-AO spray areas. Village location was classified by usual residence of the mother. Linear regression was used to determine associations between infant mortality due to congenital anomalies and the behavioral, structural, and environmental factors. The association between AO spray area and infant mortality due to congenital anomalies was statistically significant under univariable (B [95%CI] = 1.88 [0.64,3.11], P = .005) and multivariable conditions (B [95%CI] = 2.02 [0.08,3.96], P = .042). These results suggest that infants born to mothers whose usual residence was in an AO spray area on Guam are at an increased risk of mortality due to congenital anomalies. Further studies using individual-level data are needed to validate these results. PMID:26668770

  20. 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

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

    PubMed Central

    2012-01-01

    Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. Methods This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosis of congenital anomaly. We classified cases according to the coding system adopted by the European Network for the Surveillance of Congenital Anomalies (EUROCAT). Prevalence rates of congenital anomalies in Brindisi were compared with those reported by EUROCAT. Logistic regression models were adapted to evaluate the association between congenital anomalies and municipality of residence of the mother during pregnancy. Results Out of 8,503 newborns we recorded 194 subjects with congenital anomalies (228.2/10,000 total births), 1.2 times higher than the one reported by the EUROCAT pool of registries. We observed 83 subjects with congenital heart diseases with an excess of 49.1%. Odds Ratios for congenital heart diseases significantly increased for newborns to mothers resident in Brindisi (OR 1.75 CI 95% 1.30-2.35). Conclusions Our findings indicated an increased prevalence of Congenital Anomalies (especially congenital heart diseases) in the city of Brindisi. More research is needed in order to analyze the role of factors potentially involved in the causation of congenital anomalies. PMID:23270371

  2. Parietal bone agenesis and associated multiple congenital anomalies.

    PubMed

    de Heer, Inge M; van Nesselrooij, Bernadette P M; Spliet, Willem; Vermeij-Keers, Christl

    2003-03-01

    Congenital defects of the calvaria in general and the parietal bones in particular are rare diseases. The latter are of three kinds: 1) cranioschisis, 2) craniodysostosis, and 3) foramina parietalia permagna (FPP). Here, we describe an exceptional anomaly, namely, complete absence of one parietal bone and dysplasia of the other. Agenesis has been reported twice before in the literature. In these cases, the calvarial defect was the only congenital anomaly. In contrast, the patient described in this article exhibited many other congenital deformities, namely, iris coloboma, facial dysmorphism, a large ventricular septal defect of the heart, and a horseshoe kidney. Some of these deformities are associated with neural crest development. Chromosomal analysis was normal in both blood and fibroblasts, and fluorescent in situ hybridization analysis failed to demonstrate a 22q11 deletion as seen in DiGeorge syndrome, a neural crest-related disease complex. Since 2000, the third group of congenital defects of the parietal bones, FPP, has been associated with mutations of the MSX-2 gene. In our case, a genetic analysis of this gene was performed, but no mutations or deletions of MSX-2 were detected. PMID:12621289

  3. Diphallia with Associated Anomalies: A Case Report and Literature Review

    PubMed Central

    Prasetyo, Robertus Bebet; Rodjani, Arry

    2013-01-01

    Diphallia or penile duplication is an extremely rare congenital anomaly. It occurs once in every 5.5 million live births. The extent of penile duplication and the number of associated anomalies vary greatly, ranging from a double glans from a penis with no associated anomaly up to complete penile duplication associated with multiple anomalies. Here, we report a 12-year-old boy with complete bifid diphallia associated with bifid scrotum, epispadia, and pubic symphysis diastasis along with a review of the articles pertaining to this anomaly. PMID:24383036

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

    PubMed Central

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

    2014-01-01

    Objectives: To describe 8 cases of renal artery stenosis (RAS) in children with congenital anomalies of the renal tract. Methods: 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. Results: 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. Conclusion: We highlight the association between RAS and other renal anomalies, which indicates that they could share a common genetic background. PMID:25316474

  5. 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.

  6. 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

  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. 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

  9. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered. PMID:26769614

  10. 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…

  11. Magnetic resonance and computed tomographic features of 4 cases of canine congenital thoracic vertebral anomalies

    PubMed Central

    Berlanda, Michele; Zotti, Alessandro; Brandazza, Giada; Poser, Helen; Calò, Pietro; Bernardini, Marco

    2011-01-01

    Magnetic resonance and computed tomography features of 4 cases of canine congenital vertebral anomalies (CVAs) are discussed. Two of the cases represent unusual presentations for such anomalies that commonly affect screw-tail or toy breeds. Moreover, the combination of CVAs and a congenital peritoneo-pericardial diaphragmatic hernia has never before been imaged. PMID:22654139

  12. Magnetic resonance and computed tomographic features of 4 cases of canine congenital thoracic vertebral anomalies.

    PubMed

    Berlanda, Michele; Zotti, Alessandro; Brandazza, Giada; Poser, Helen; Calò, Pietro; Bernardini, Marco

    2011-12-01

    Magnetic resonance and computed tomography features of 4 cases of canine congenital vertebral anomalies (CVAs) are discussed. Two of the cases represent unusual presentations for such anomalies that commonly affect screw-tail or toy breeds. Moreover, the combination of CVAs and a congenital peritoneo-pericardial diaphragmatic hernia has never before been imaged. PMID:22654139

  13. 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

    2015-12-01

    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. PMID:26785492

  14. Associated congenital anomalies in infants with isolated gastroschisis: A single-institutional experience.

    PubMed

    Corona-Rivera, Jorge Román; Nieto-García, Rafael; López-Marure, Eloy; Cárdenas-Ruiz Velasco, Juan José; Bobadilla-Morales, Lucina; Mellín-Sánchez, Estrella Lizbeth; Aguirre-Guillén, Rafael L; Pérez-Ramírez, René O; Zapata-Aldana, Eugenio; Sandoval-Talamantes, Ana K; Solís-Ledezma, Susana; Corona-Rivera, Alfredo; Gómez-Ruiz, Larissa M

    2016-02-01

    The aim of our study was to determine the frequency and type of associated congenital anomalies in patients with isolated gastroschisis born at the Dr. Juan I. Menchaca Civil Hospital of Guadalajara (Guadalajara, México), and to explore its possible association with the included outcome variables. One hundred-eight cases with isolated gastroschisis were reviewed from 2009 to 2014. The occurrence of intestinal and extraintestinal associated anomalies (either secondary or primary) was prospectively assessed. The type of gastroschisis, length of hospital stay (LOS), and in-hospital mortality were outcome variables for statistical analysis. Of infants with gastroschisis, 52 (48.1%) had one or more associated anomalies (AA), with increased odds in males (OR = 2.3, 95%CI: 1.1-5.0). AA classified, as secondary and primary were present in 34.3 and 5.6% of patients, respectively. Of secondary AA, 25.9% were intestinal anomalies, and 17.6% were extraintestinal. Primary AA were congenital heart disease (n = 3), meningomyelocele, and hydrocephaly and amniotic band sequence in one instance, respectively. Multivariate logistic regression showed that secondary AA (both intestinal and extraintestinal) were associated with complex gastroschisis, prolonged LOS, and in-hospital death, whereas primary AA were not related to a worse outcome. Our results highlight the pathogenic importance of properly investigating and categorizing the presence of others secondary or primary AA when diagnosis of gastroschisis is made. PMID:26464049

  15. 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. PMID:25478523

  16. Epidemiological Risk Factors and Perinatal Outcomes of Congenital Anomalies.

    PubMed

    Almeida, Lissa Fernandes Garcia; Araujo Júnior, Edward; Crott, Gerson Claudio; Okido, Marcos Masaru; Berezowski, Aderson Tadeu; Duarte, Geraldo; Marcolin, Alessandra Cristina

    2016-07-01

    Objectives To identify the epidemiological risk factors for congenital anomalies (CAs) and the impact of these fetal malformations on the perinatal outcomes. Methods This prospective cohort study comprised 275 women whose fetuses had CAs. Maternal variables to establish potential risk factors for each group of CA and perinatal outcomes were evaluated. The primary outcome was CA. Secondary outcomes included: fetal growth restriction (FGR); fetal distress (FD); premature rupture of membranes (PROM); oligohydramnios or polyhydramnios; preterm delivery (PTD); stillbirth; cesarean section; low birth weight; Apgar score < 7 at the 1st and 5th minutes; need for assisted ventilation at birth; neonatal infection; need for surgical treatment; early neonatal death; and hospitalization time. Chi-square (χ(2)) test and multilevel regression analysis were applied to compare the groups and determine the effects of maternal characteristics on the incidence of CAs. Results The general prevalence of CAs was of 2.4%. Several maternal characteristics were associated to CAs, such as: age; skin color; level of education; parity; folic acid supplementation; tobacco use; and history of previous miscarriage. There were no significant differences among the CA groups in relation to FGR, FD, PROM, 1-minute Apgar score > 7, and need for assisted ventilation at birth. On the other hand, the prevalence of the other considered outcomes varied significantly among groups. Preterm delivery was significantly more frequent in gastrointestinal tract/abdominal wall defects. The stillbirth rate was increased in all CAs, mainly in isolated fetal hydrops (odds ratio [OR]: 27.13; 95% confidence interval [95%CI]: 2.90-253.47). Hospitalization time was higher for the urinary tract and congenital heart disease groups (p < 0.01). Neonatal death was significantly less frequent in the central nervous system anomalies group. Conclusion It was possible to identify several risk factors for CAs

  17. Adolescent urology: developing lifelong care for congenital anomalies.

    PubMed

    Wood, Dan

    2014-05-01

    Complex congenital urological anomalies often necessitate ongoing clinical and surgical management as patients reach adulthood and beyond. However, adolescent and lifelong care of such conditions is a relatively new urological specialty, and approaches to transitional health care require further development. Thus, although literature relating to the use of such approaches in urology are lacking, we are able to draw upon experience of models from other specialties. Urological anomalies might complicate an individual's development, particularly during adolescence, which represents a time of rapid and considerable change in most aspects of life. During this period, increased independence and responsibility, necessitating a shift from parent-driven to patient-driven care, and the desire to develop important and intimate social relationships can affect a patient's ability to cope with, and manage, disease. These factors also influence the ability of health-care providers to deliver adequate treatment. In particular, consideration of the effect of a condition or its treatment on the patient's capacity to live a normal life is important. A multidisciplinary approach is essential to overcoming these issues. Furthermore, diagnostic and treatment registries, as well as an increase in the number of adult-focused urologists willing to participate in the transition of patients from paediatric to adult care, are needed to enable provision of optimal patient care for the future. PMID:24709966

  18. Congenital anomalies of superior vena cava and their implications in central venous catheterization.

    PubMed

    Rossi, Umberto G; Rigamonti, Paolo; Torcia, Pierluca; Mauri, Giovanni; Brunini, Francesca; Rossi, Michele; Gallieni, Maurizio; Cariati, Maurizio

    2015-01-01

    Congenital anomalies of superior vena cava (SVC) are generally discovered incidentally during central venous catheter (CVC) insertion, pacemaker electrode placement, and cardiopulmonary bypass surgery. Persistent left SVC (PLSVC) is a rare (0.3%) anomaly in healthy subjects, usually asymptomatic, but when present and undiagnosed, it may be associated with difficulties and complications of CVC placement. In individuals with congenital heart anomalies, its prevalence may be up to 10 times higher than in the general population.In this perspective, awareness of the importance of the incidental finding of PLSV during CVC placement is crucial. To improve knowledge of this rare but potentially dangerous condition, we describe the embryological origin of SVC, its normal anatomy, and possible congenital anomalies of the venous system and of the heart, including the presence of a right to left cardiac shunt. Diagnosis of PLSVC as well as the clinical complications and technical impact of SVC congenital anomalies for CVC placement are emphasized. PMID:25768048

  19. Risk for congenital anomalies in offspring of childhood, adolescent and young adult cancer survivors.

    PubMed

    Seppänen, Viivi I; Artama, Miia S; Malila, Nea K; Pitkäniemi, Janne M; Rantanen, Matti E; Ritvanen, Annukka K; Madanat-Harjuoja, Laura-Maria

    2016-10-15

    Offspring of cancer survivors (CS) may be at risk for congenital anomalies due to the mutagenic therapies received by their parents. Our population-based cohort study aimed to investigate the risk for congenital anomalies in offspring of CS compared to offspring of their siblings. Using the Finnish Cancer Registry, Central Population Register, and Hospital Discharge Register, we identified hospital contacts due to congenital anomalies in 6,862 offspring of CS (early-onset cancer between 1953 and 2004) and 35,690 offspring of siblings. Associations between congenital anomalies and cancer were evaluated using generalized linear regression modelling. The ratio of congenital anomalies in offspring of CS (3.2%) was slightly, but non-significantly, elevated compared to that in offspring of siblings (2.7%) [prevalence ratio (PR) 1.07, 95% confidence interval (CI) 0.91-1.25]. When offspring of childhood and adolescent survivors (0-19 years at cancer diagnosis) were compared to siblings' offspring, the risk for congenital anomalies was non-significantly increased (PR 1.17, 95% CI 0.92-1.49). No such increase existed for offspring of young adult survivors (20-34 years at cancer diagnosis) (PR 1.01, 95% CI 0.83-1.23). The risks for congenital anomalies were elevated among offspring of CS diagnosed with cancer in the earlier decades (1955-1964: PR 2.77, 95% C I 1.26-6.11; and 1965-1974: PR 1.55, 95% C I 0.94-2.56). In our study, we did not detect an overall elevated risk for congenital anomalies in offspring of survivors diagnosed in young adulthood. An association between cancer exposure of the parent and congenital anomalies in the offspring appeared only for those CS who were diagnosed in the earlier decades. PMID:27280956

  20. Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation.

    PubMed

    Mahgoub, Linda; Joynt, Chloe; Bhargava, Ravi; Davies, Dawn; El-Hakim, Hamdy; Dobrovolsky, Walter

    2015-11-01

    Syngnathia is a rare congenital disorder of jaw fusion with a paucity of literature from developed countries. We present a case of an infant noted to have multiple anomalies at birth including syngnathia, microcephaly with a variant of brain abnormality between holoprosencephaly and syntelencephaly, optic nerve hypoplasia, ear canal anomalies, hemi-vertebrae, and suspected hypomelanosis of Ito. To our knowledge, this patient with syngnathia and multiple anomalies is the first to be reported, but whether they are a coincidence, a pathogenetic association, or a new syndrome remains unknown. This case is discussed with a brief review of the literature. PMID:25325328

  1. Birth weight-specific infant mortality due to congenital anomalies, 1960 and 1980.

    PubMed Central

    Berry, R J; Buehler, J W; Strauss, L T; Hogue, C J; Smith, J C

    1987-01-01

    The impact of mortality due to congenital anomalies in single-delivery births was compared in 1960 and 1980 birth cohorts; data were used from the 1960 National Center for Health Statistics national linkage of birth and death certificates and the 1980 National Infant Mortality Surveillance project. In 1960 there were 14,714 deaths due to congenital anomalies, compared with 8,674 in 1980, a 41 percent reduction. The infant mortality risk (IMR) due to congenital anomalies fell 31 percent. This is in contrast with the observed 54 percent decline in IMR due to all causes. This reduction in mortality due to congenital anomalies occurred for both whites and blacks in the postneonatal period and for whites only in the neonatal period. Changes ranged from a 1.8 percent increase for the black neonatal mortality risk to a 46.6 percent decrease for the white postneonatal mortality risk. In spite of these relative reductions, the absolute percentage of all infant deaths due to congenital anomalies had increased from 15.8 percent in 1960 to 24.1 percent in 1980. Two categories, cardiovascular and central nervous system anomalies, accounted for 72 percent of infant deaths due to congenital anomalies in 1960 and for 59 percent in 1980; cardiovascular anomalies accounted for 48 percent of all deaths due to congenital anomalies in 1960 and 40 percent in 1980. Infant mortality risks in the United States showed a 2:1 black to white ratio in both 1960 and 1980. However, for infant mortality due to congenital anomalies, the black and white mortality risks were approximately equal in both 1960 and 1980. For infants with birth weights of 500-2,499 g, the risk of neonatal mortality for blacks was less than half the risk for whites. PMID:3104974

  2. 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

  3. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation

    SciTech Connect

    Crosby, J.L. Univ. of Maine, Orono Vanderbilt Univ. School of Medicine, Nashville, TN ); Varnum, D.S.; Nadeau, J.H. )

    1993-05-01

    Congenital anomalies have complex etiologies involving both genetic and nongenetic components. Many are sporadic, without obvious evidence for heritability. An important model for these anomalies is a mutation in laboratory mice that is called [open quotes]disorganization[close quotes] (Ds), which functions as a variable autosomal dominant and leads to a wide variety of congenital anomalies involving many developmental processes and systems. Variable expressivity, asymmetrical manifestations, and low penetrance suggest that somatic events determine the location and nature of these anomalies. A statistical analysis suggests that occurrence of anomalies in mice with the Ds mutation follows a Poisson distribution. These results suggest that congenital anomalies in mice with the Ds mutation occur independently of each other. The authors propose that Ds causes a heritable predisposition to congenital anomalies and that Ds and appropriate somatic events combine to compromise normal development. They also propose that some sporadic, nonheritable congenital anomalies involve somatic mutations at Ds-like loci. Ds may therefore serve not only as a model for developmental anomalies in cell fate and pattern formation but also for complex developmental traits showing variable expressivity, low penetrance, and sporadic occurrence in mice and humans. 58 refs., 2 figs., 1 tab.

  4. The sexual and reproductive consequences of congenital genitourinary anomalies.

    PubMed

    Woodhouse, C R

    1994-08-01

    The major congenital anomalies of the genitourinary tract may result in disturbances of sexual and reproductive function. In general the children grow up with the same aspirations as their more normal peers, which are to marry, have intercourse and produce children. Some achieve this despite the deformities and in others specific reconstructive surgery may be needed. In exstrophy the vagina lies parallel to the floor when the girl is standing and the introitus is seen on the lower abdominal wall rather than in the perineum. Episiotomy is required in 34% and formal vaginoplasty in 23% of the cases. The exstrophy penis has a tight dorsal chordee that must be corrected to allow intercourse. The neurological and social consequences of myelomeningocele do not prevent patients from having an interest in sex. Those who are able to walk are likely to have normal sexual function compared to about 50% of those who are wheelchair bound. The recurrence risk for neural tube defects in their offspring is 1:50 for sons and 1:13 for daughters regardless of the sex of the affected parent. The physiological consequences of posterior urethral valves result in weak ejaculation in 50% and highly viscous and alkaline semen in 50% of the cases. Of male patients with ambiguous genitalia or micropenis 75% have normal intercourse. PMID:8021989

  5. 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. PMID:27323550

  6. 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

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

    PubMed

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

    2015-01-01

    The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed  the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75). PMID:26621159

  8. Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

    PubMed Central

    Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L.; Richieri-Costa, Antonio; Santos, Juliana M.; Kokitsu-Nakata, Nancy M.

    2013-01-01

    The authors describe the clinical findings of 38 children with congenital anomalies and misoprostol intrauterine exposure. This study included 38 cases, ascertained from case series of the Hospital of Rehabilitation of Craniofacial Anomalies from University of São Paulo, with evidence of intrauterine exposure to misoprostol in the first trimester of the pregnancy. Information about misoprostol intake and drug administration route was obtained through interviews with mothers. Clinical evaluation showed 18 individuals with facial phenotype compatible with Moebius syndrome; 11 individuals with multiple congenital anomalies; and nine individuals with nonsyndromic cleft lip and/or cleft palate. This study showed a widening of the phenotypic spectrum associated with misoprostol embryotoxicity.

  9. 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

  10. Congenital vertical talus: a review.

    PubMed

    McKie, Janay; Radomisli, Timothy

    2010-01-01

    Congenital vertical talus, also known as congenital convex pes valgus, is an uncommon disorder of the foot, manifested as a rigid rocker-bottom flatfoot. Radiographically, it is defined by dorsal dislocation of the navicular on the talus. This condition requires surgical correction. If left untreated, this foot deformity results in a painful and rigid flatfoot with weak push-off power. This article provides an overview of this rare foot deformity, outlines appropriate workup of the disorder, and details current treatment options, with emphasis on the evolution of treatment of congenital vertical talus. PMID:19963176

  11. Concurrent dorsal dimelia in 160 consecutive patients with congenital anomalies of the hands and feet.

    PubMed

    Al-Qattan, M M

    2014-11-01

    This study was designed to investigate the prevalence of dorsal dimelia in a series of 160 consecutive patients with congenital anomalies of the hands and feet, and to investigate the distribution of dorsal dimelia and the concurrent anomalies. Five cases (3.1%) showed evidence of dorsal dimelia and the distribution of dorsal dimelia was similar to the distribution of concurrent anomalies in all five cases. Another 11 cases of concurrent dorsal dimelia with other congenital anomalies have been reported previously with a positive match in the distributions in all cases. This similarity in the distribution in all 16 reported cases (including the five cases in the current study) is statistically significant. It is concluded that dorsal dimelia in humans is not as rare as it is generally thought to be, and that it may be viewed as an error of dorso-ventral patterning, which occurs in the same distribution as other concurrent anomalies. PMID:24362255

  12. Prevalence of Congenital Anomalies: A Community-Based Study in the Northwest of Iran

    PubMed Central

    Mashhadi Abdolahi, Hossein; Kargar Maher, Mohammad Hassan; Afsharnia, Farzaneh; Dastgiri, Saeed

    2014-01-01

    Background. Congenital anomalies are responsible for a remarkable proportion of mortality and morbidity in newborns. The aim of this study was to document the epidemiological features of congenital anomalies in rural areas, northwest of Iran. Method. The study population included live births born between 2004 and 2012 in rural areas of Tabriz district. All health records of the children under 8 years were assessed retrospectively. Results. Of 22500 live births, 254 cases were identified with a primary diagnosis of congenital anomalies giving a prevalence rate of 112.89 per 10 000 births (95% CI: 99.08 to 126.69). Anomalies of the nervous system were the most common defects, accounting for 24% of birth defects followed by the heart diseases anomalies. The highest prevalence rate for birth defects was observed in the south-western region with 386 per 10 000 births (95% CI: 215 to 556) compared to the similar rate in the north-western region with 15 per 10 000 births (95% CI: −14 to 45). Conclusion. The considerable geographic disparities in the prevalence of congenital anomalies in the region might be attributed to the highly polluted industrial zone in the area (including air and water pollution, etc.). This needs further etiological investigations in the region. PMID:24995131

  13. Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.

    PubMed

    Szczałuba, Krzysztof; Nowakowska, Beata; Sobecka, Katarzyna; Smyk, Marta; Castaneda, Jennifer; Klapecki, Jakub; Kutkowska-Kaźmierczak, Anna; Śmigiel, Robert; Bocian, Ewa; Radkowski, Marek; Demkow, Urszula

    2016-01-01

    Major congenital anomalies are detectable in 2-3 % of the newborn population. Some of their genetic causes are attributable to copy number variations identified by array comparative genomic hybridization (aCGH). The value of aCGH screening as a first-tier test in children with multiple congenital anomalies has been studied and consensus adopted. However, array resolution has not been agreed upon, specifically in the newborn or infant population. Moreover, most array studies have been focused on mixed populations of intellectual disability/developmental delay with or without multiple congenital anomalies, making it difficult to assess the value of microarrays in newborns. The aim of the study was to determine the optimal quality and clinical sensitivity of high-resolution array comparative genomic hybridization in neonates with multiple congenital anomalies. We investigated a group of 54 newborns with multiple congenital anomalies defined as two or more birth defects from more than one organ system. Cytogenetic studies were performed using OGT CytoSure 8 × 60 K microarray. We found ten rearrangements in ten newborns. Of these, one recurrent syndromic microduplication was observed, whereas all other changes were unique. Six rearrangements were definitely pathogenic, including one submicroscopic and five that could be seen on routine karyotype analysis. Four other copy number variants were likely pathogenic. The candidate genes that may explain the phenotype were discussed. In conclusion, high-resolution array comparative hybridization can be applied successfully in newborns with multiple congenital anomalies as the method detects a significant number of pathogenic changes, resulting in early diagnoses. We hypothesize that small changes previously considered benign or even inherited rearrangements should be classified as potentially pathogenic at least until a subsequent clinical assessment would exclude a developmental delay or dysmorphism. PMID:26987320

  14. 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

    2016-01-01

    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

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

    PubMed Central

    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.

    2014-01-01

    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% spec-ificity. 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. PMID:19938245

  16. 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

  17. Congenital Anomalies of the Hand--Principles of Management.

    PubMed

    Little, Kevin J; Cornwall, Roger

    2016-01-01

    Physicians who specialize in pediatric orthopedics and hand surgery frequently encounter congenital hand abnormalities, despite their relative rarity. The treating physician should be aware of the associated syndromes and malformations that may, in some cases, be fatal if not recognized and treated appropriately. Although these congenital disorders have a wide variability, their treatment principles are similar in that the physician should promote functional use and cosmesis for the hand. This article discusses syndactyly, preaxial polydactyly and post-axial polydactyly, and the hypoplastic thumb. PMID:26614930

  18. Association of assisted reproductive technology with twinning and congenital anomalies.

    PubMed

    Balci, Sevim; Engiz, Ozlem; Alikasifoglu, Mehmet; Esinler, Ibrahim; Sinan Beksac, M

    2008-06-01

    Recently many reports have been published on the use of intracytoplasmic sperm injection (ICSI) and the increased risk of congenital major malformations or syndromes. We present three cases with Goldenhar syndrome (one of them a twin pair) and one case with Rubinstein-Taybi syndrome (RTS), also a twin pair. All four female cases are derived from ICSI. Goldenhar syndrome with ICSI pregnancy has been reported previously but as far as we know, RTS has not been described in association with assisted reproductive technology (ART). The four new cases reported herein will contribute to a better understanding whether ICSI pregnancy increases congenital malformations. PMID:18759096

  19. An intramural left main coronary artery with a left sinus of valsalva aneurysm: a unique combination of congenital anomalies.

    PubMed

    Altarabsheh, Salah Eldien; Deo, Salil V; Spitell, Peter; Araoz, Philip; Park, Soon J

    2013-02-01

    The congenital anomaly of an intramural left main coronary artery arising in the anatomically correct aortic sinus is very infrequent. Aneurysms involving the sinus of Valsalva rarely arise from the left aortic sinus. We present the clinical features and surgical correction of this rare anomaly along with a short discussion of these congenital malformations. PMID:23439356

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

    PubMed Central

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

    2011-01-01

    Purpose To evaluate the outcomes of 360-degree suture trabeculotomy in childhood glaucoma with poor prognosis. Subjects and Methods A nonrandomized, retrospective chart review was performed on pediatric patients (under 18 years old) 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 prior failed goniotomy surgery, (4) infantile-onset glaucoma following congenital cataract surgery, and (5) infantile-onset glaucoma with associated ocular/systemic anomalies. Results 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. Conclusions Children with a wide 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. PMID:21397807

  1. Over 900 oocyte cryopreservation babies born with no apparent increase in congenital anomalies.

    PubMed

    Noyes, N; Porcu, E; Borini, A

    2009-06-01

    Over the past decade, the number of reported live births resulting from oocyte cryopreservation has rapidly increased. To appreciate the true number of children born, verified live births were tabulated and assessed. A literature search was performed; authors were then contacted to verify birth outcomes and provide updates. A database including all verified live born infants was constructed. A total of 58 reports (1986-2008) were reviewed, which included 609 live born babies (308 from slow freezing, 289 from vitrification and 12 from both methods). Additionally, 327 other live births were verified. Of the total 936 live borns, 1.3% (12) were noted to have birth anomalies: three ventricular septal defects, one choanal and one biliary atresia, one Rubinstein-Taybi syndrome, one Arnold-Chiari syndrome, one cleft palate, three clubfoot and one skin haemangioma. Compared with congenital anomalies occurring in naturally conceived infants, no difference was noted. With more live born data accumulating, this procedure may become mainstream as a fertility preservation option, particularly for women diagnosed with malignancy requiring cytotoxic therapy. A registry would help to assure the safest, most expeditious development of this technology. PMID:19490780

  2. FACTORS ASSOCIATED WITH THE INCIDENCE OF CONGENITAL ANOMALIES: A LOCALIZED INVESTIGATION

    EPA Science Inventory

    The report concludes that, in net terms, and on the basis of available retrospective data, primarily from birth records, there are no strong indications that the incidence of congenital anomalies in the Ft. Rucker, Alabama area is higher than normal. The original hypothesis that ...

  3. Congenital anomalies and vascular birthmarks of the lower extremities.

    PubMed

    Laor, T; Burrows, P E

    1998-08-01

    MR imaging is an invaluable tool for the evaluation of congenital abnormalities and vascular birthmarks of the extremities in children. These abnormalities of the immature musculoskeletal system are often underestimated by radiography. MR imaging is useful for diagnosis, assisting in therapy, showing response to treatment, and determining prognosis. Localized and generalized abnormalities of the lower extremities and issues pertinent to their MR imaging are illustrated in this article. PMID:9654582

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

    PubMed Central

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

    2013-01-01

    Background 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. Methods 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. Results 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. Conclusion 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

  5. 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

    2014-09-01

    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. PMID:25168985

  6. 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

  7. Congenital anomalies in the offspring of rats after exposure of the testis to an electrostatic field.

    PubMed

    Soeradi, O; Tadjudin, M K

    1986-04-01

    The effect of electrostatic field treatment of the testis on the offspring of male rats was investigated. The results showed that treatment ranging from 1 to 7 kV caused reduced fertility, but no deaths occurred among the treated animals during the experiment. Observations at 3, 30, 60 and 90 days after exposure showed no recovery of fertility among the treated rats. Treatment with 6 or 7 kV caused congenital anomalies in the offspring, such as micropthalmy, elongation of the foreskin of the penis (praeputium-like), 'rounded face' with omnidirectional hair growth, and narrow pelvis in adult female offspring. The anomalies might be caused by changes to the genetic material in the sperm. The sex ratio of offspring in the experimental groups was not significantly different from normal, suggesting that the number of male and female offspring was unaffected by treatment. The number of offspring with experimentally linked congenital anomalies decreased with time. PMID:3793258

  8. 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

  9. Congenital absence of the common bile duct: A rare anomaly of extrahepatic biliary tract

    PubMed Central

    Mittal, Tarun; Pulle, Mohan V.; Dey, Ashish; Malik, Vinod K.

    2016-01-01

    Congenital absence of the common bile duct (CBD) is an extremely rare developmental anomaly with right and left hepatic ducts draining directly into the gallbladder (GB). Other synonyms for this clinical condition are “cholecystohepatic ducts”, “transverse lie of the GB” or “interposition of the GB”. The potential for iatrogenic injury is high, because of either inadvertent division or ligation of the ducts. Diagnosis is mostly made intraoperatively, and needs some form of biliary reconstruction. Herein, we are reporting a case of congenital absence of the CBD in a 36-year-old lady that was detected intraoperatively. PMID:27279403

  10. Congenital absence of the common bile duct: A rare anomaly of extrahepatic biliary tract.

    PubMed

    Mittal, Tarun; Pulle, Mohan V; Dey, Ashish; Malik, Vinod K

    2016-01-01

    Congenital absence of the common bile duct (CBD) is an extremely rare developmental anomaly with right and left hepatic ducts draining directly into the gallbladder (GB). Other synonyms for this clinical condition are "cholecystohepatic ducts", "transverse lie of the GB" or "interposition of the GB". The potential for iatrogenic injury is high, because of either inadvertent division or ligation of the ducts. Diagnosis is mostly made intraoperatively, and needs some form of biliary reconstruction. Herein, we are reporting a case of congenital absence of the CBD in a 36-year-old lady that was detected intraoperatively. PMID:27279403

  11. Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review.

    PubMed

    Matar, Hosam E; Garg, Neeraj K

    2016-03-01

    We present a unique case of a congenital hereditary common peroneal nerve neuropathy with congenital idiopathic congenital talipes equinovarus that had been treated with the Ponseti method with satisfactory outcome at 5-year follow-up, along with a literature review. PMID:26588839

  12. Maternal smoking during pregnancy and the risk of congenital urinary tract anomalies.

    PubMed Central

    Li, D K; Mueller, B A; Hickok, D E; Daling, J R; Fantel, A G; Checkoway, H; Weiss, N S

    1996-01-01

    To study maternal smoking during pregnancy and the risk of congenital urinary tract anomalies, we interviewed mothers of 118 affected infants born to residents of western Washington State during 1990 and 1991 and mothers of 369 control infants randomly selected from those without birth defects delivered during those years in five hospitals in King County, Washington. Maternal smoking was associated with an increased risk of congenital urinary tract anomalies in offspring (adjusted odds ratio [OR] = 2.3; 95% confidence interval [CI] = 1.2, 4.5). This risk was higher among light smokers (1-1000 cigarettes during the pregnancy) (OR = 3.7; 95% CI = 1.7, 8.6) than among heavy smokers (OR = 1.4; 95% CI = 0.6, 3.3). Our results corroborate previous findings and support the hypothesis of a causal relation. PMID:8633746

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

    PubMed

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

    1998-05-01

    The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than five thousand specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies was recatalogued and redescribed according to contempory syndromological views. The original descriptions, as far as preserved, were compared with the clinical and radiographical findings. In 18 specimens the following skeletal dysplasias were diagnosed: achondrogenesis, achondroplasia, Blomstrand chondrodysplasia, Majewski syndrome, osteodysplastic primordial dwarfism, osteogenesis imperfecta type I, osteogenesis imperfecta type II, and thanatophoric dysplasia with and without cloverleaf skull. Radiography did not yield a diagnosis in 4 specimens. The use of additional diagnostical techniques, such as MRI and CT scanning and fluorescence in situ hybridization in these specimens, is currently being investigated. PMID:9605285

  14. Heterotopic nephrogenic rests in the colon and multiple congenital anomalies: possibly related association.

    PubMed

    Jain, Dhanpat; Martel, Maritza; Reyes-Múgica, Miguel; Parkash, Vinita

    2002-01-01

    Heterotopic renal tissue (HRT) in the wall of the colon is a very rare occurrence, with only five cases published. Our patient is only the second patient reported to have this abnormality in the absence of sirenomelia. We describe colonic HRT in a child, associated with multiple congenital anomalies. The congenital abnormalities were of the VACTERL type, accompanied by valvular cardiac anomalies that were clinically diagnosed as Shone syndrome. The HRT was not apparent clinically or grossly. Microscopically, multifocal islands of renal tissue consisting of glomeruli, cystically dilated tubules, and blastema were seen in all layers of the bowel, and simulated "cystic partially differentiated nephroblastoma." Our case provides further support to the belief that VACTERL association and sirenomelia represent related entities. PMID:12375130

  15. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.

    PubMed

    Pua, Heather H; Krishnamurthi, Swetha; Farrell, Jessica; Margeta, Marta; Ursell, Philip C; Powers, Martin; Slavotinek, Anne M; Jeng, Linda J B

    2014-01-01

    Array comparative genomic hybridization (aCGH) is now commonly used to identify copy number changes in individuals with developmental delay, intellectual disabilities, autism spectrum disorders, and/or multiple congenital anomalies. We report on an infant with multiple congenital anomalies and a novel 2.6 Mb interstitial deletion within 9q21.32q21.33 detected by aCGH. Her clinical presentation included dysmorphic craniofacial features, cleft palate, atrial septal defect, bicornuate uterus, bilateral hip dislocation, hypotonia, and recurrent pneumonia. Parental aCGH studies were negative for copy loss in this region. To our knowledge, no similar deletions have been reported in available databases or published literature. This deletion encompasses 12 genes, and prediction algorithms as well as experimental data suggest that a subset is likely to be haploinsufficient. Included are a neurotrophin receptor (NKG2D), a gene implicated in cilia function (KIF27), an adaptor protein important for ubiquitin-dependent protein quality control (UBQLN1), a gene important for transcription and signaling (HNRNPK), and a gene involved in maintaining genomic stability (RMI1). Identifying additional patients with similar copy losses and further study of these genes will contribute to a better understanding of the pathophysiology of multiple congenital anomalies. PMID:24501764

  16. 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

  17. Congenital varicella syndrome: A systematic review.

    PubMed

    Ahn, Ki Hoon; Park, Yun-Jung; Hong, Soon-Cheol; Lee, Eun Hee; Lee, Ji-Sung; Oh, Min-Jeong; Kim, Hai-Joong

    2016-07-01

    Varicella-zoster virus (VZV) is a teratogen that can cross the placenta and cause the congenital varicella syndrome (CVS), which is characterised by multi-system anomalies. There have been 130 reported cases of CVS from 1947 to 2013. The estimated incidence of CVS was 0.59% and 0.84% for women infected with VZV during the entire pregnancy and for those infected the first 20 weeks of pregnancy, respectively. Nine cases were reported at 21-27 weeks of gestation and one case was identified at 36 weeks. Herpes zoster caused CVS in two cases. Regarding treatment, varicella zoster immunoglobulin treatment, irrespective of gestational age, should be considered in addition to antiviral drugs for women who have been exposed to or infected with virus. PMID:26965725

  18. 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. PMID:25811402

  19. Proximal tibio-fibular synostosis. A rare congenital anomaly.

    PubMed

    O'Dwyer, K J

    1991-01-01

    A case of proximal tibiofibular synostosis is presented along with a review of the literature. The variety of presenting complaints is discussed and the syndrome is compared with that of radio-ulnar synostosis. Possible modes of treatment are explained. PMID:1872166

  20. 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

  1. 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. PMID:24801258

  2. Neonatal head ultrasound: systematic approach to congenital Central Nervous System anomalies. A pictorial essay.

    PubMed

    Yoon, Hye-Kyung; Cho, Seong Whi

    2016-09-01

    Brain ultrasound is widely used for the screening of prematurely born babies. Although the best imaging modality for the central nervous system anomaly is brain MRI, the first imaging study in the post-natal period is brain ultrasonography in most cases. Anomalies could be found incidentally on screening ultrasound, or in those cases already suspected on prenatal ultrasound. In order not to miss congenital structural abnormalities of the brain on screening ultrasound, systematic approaches would be very helpful. The ventricles and sylvian fissures are very important structures to suspect central nervous system anomalies: they are symmetric structures so we should look for any asymmetry or maldevelopment. And then, on sagittal images, the midline structures including the corpus callosum and cerebellar vermis should be observed carefully. Finally, we should look for any abnormality in gyration or cortical development. Skull defect with herniation of intracranial contents, a spectrum of encephalo-meningocele, could be also identified on ultrasound. Congenital infections such as cytomegalovirus infection may show ventriculomegaly and malformation of the cortical development on imaging studies. PMID:27622417

  3. Pattern and factors associated with congenital anomalies among young infants admitted at Bugando medical centre, Mwanza, Tanzania

    PubMed Central

    2014-01-01

    Background Congenital anomalies or birth defects are among the leading causes of infant mortality and morbidity around the world. The impact of congenital anomalies is particularly severe in middle- and low-income countries where health care resources are limited. The prevalence of congenital anomalies varies in different parts of the world, which could reflect different aetiological factors in different geographical regions. Methods Between October 2012 and January 2013, a cross-sectional study was conducted involving young infants below 2 months of age, admitted at a university teaching hospital in Tanzania. Face-to-face interviews with parents/caretakers of young infants were carried out to collect socio-demographic and clinical information. Physical examinations were performed on all young infants. Echocardiography, X-ray, cranial as well as abdominal ultrasonographies were performed when indicated. Results Analysis of the data showed that among 445 young infants enrolled in the study, the prevalence of congenital anomalies was 29%, with the Central Nervous System (CNS) as the most commonly affected organ system. Maternal factors that were significantly associated with congenital anomalies included the lack of peri-conceptional use of folic acid (OR = 3.1; 95% CI = 1.4-6.7; p = 0.005), a maternal age of above 35 years (OR = 2.2; 95% CI = 1.1-4.3; p = 0.024) and an inadequate attendance to antenatal clinic (OR = 2.1; 95% CI = 1.4-3.3; p < 0.001). Infant factors that were significantly associated with congenital anomalies were female sex, a birth weight of 2.5 kg or more, singleton pregnancy and a birth order above 4. Conclusions Due to the high prevalence of congenital anomalies observed in this particular context, the hospital should mobilize additional resources for an optimal and timely management of the patients with congenital anomalies. In this study, the proportion of women taking folic acid supplements during early

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

    PubMed Central

    Kayiran, Oguz; Calli, Caglar; Emre, Abdulkadir; Soy, Fatih Kemal

    2015-01-01

    Vascular anomalies of major venous vessels are rarely seen. Moreover, congenital absence of internal jugular vein is extremely uncommon. In our case, a female patient presented with primary unknown left cervical mass. Cervical ultrasonography demonstrated absence of right internal jugular vein. In addition, computed tomography and dynamic magnetic resonance imaging scans confirmed this diagnosis. Compensatory left internal jugular vein enlargement mimicked sort of cervical mass. Venous magnetic resonance imaging images revealed the absence of right internal jugular vein with compensatory left internal jugular vein dominance. In the literature, the agenesis of IJV was mentioned in a case with concomitant multiple problems. Here, an asymptomatic case is reported with an incident diagnosis. No interventions were planned upon the patient's request. It should be kept in mind that any kind of anomalies can be seen during venous access and neck surgery. PMID:25821625

  5. Single-Gene Causes of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) in Humans

    PubMed Central

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

    2015-01-01

    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. PMID:24398540

  6. 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. PMID:25794291

  7. 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

  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. PMID:26987321

  9. Congenital Muscular Dystrophies: A Brief Review

    PubMed Central

    Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania

    2011-01-01

    Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is compatible with a dystrophic myopathy. In the past 10 years, knowledge of neuromuscular disorders has dramatically increased, particularly with the exponential boost of disclosing the genetic background of CMDs. This review will highlight the clinical description of the most important forms of CMD, paying particular attention to the main keys for diagnostic approach. The diagnosis of CMDs requires the concurrence of expertise in multiple specialties (neurology, morphology, genetics, neuroradiology) available in a few centers worldwide that have achieved sufficient experience with the different CMD subtypes. Currently, molecular diagnosis is of paramount importance not only for phenotype-genotype correlations, genetic and prenatal counseling, and prognosis and aspects of management, but also concerning the imminent availability of clinical trials and treatments. PMID:22172424

  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. Usefulness of intraoperative bronchoscopy during surgical repair of a congenital cardiac anomaly with possible airway obstruction: three cases report

    PubMed Central

    Oh, JongEun; Kim, Jung-won; Shin, Won-Jung; Park, Pyung Hwan

    2016-01-01

    Compression of the airway is relatively common in pediatric patients, although it is often an unrecognized complication of congenital cardiac and aortic arch anomalies. Aortopexy has been established as a surgical treatment for tracheobronchial obstruction associated with vascular anomaly, aortic arch anomaly, esophageal atresia, and tracheoesophageal fistula. The tissue-to-tissue arch repair technique could result in severe airway complication such as compression of the left main bronchus which was not a problem before the correction. We report three cases of corrective open heart surgery monitored by intraoperative bronchoscopy performed during prebypass, and performed immediately before weaning from bypass, to evaluate tracheobronchial obstruction caused by congenital, complex cardiac anomalies in the operating room. PMID:26885306

  12. Paper 2: EUROCAT public health indicators for congenital anomalies in Europe

    PubMed Central

    Khoshnood, Babak; Greenlees, Ruth; Loane, Maria; Dolk, Helen

    2011-01-01

    Objective To present the specific public health indicators recently developed by EUROCAT that aim to summarise important aspects of the public health impact of congenital anomalies (CA) in a few quantitative measures. Methods The six indicators are: 1) CA Perinatal Mortality, 2) CA Prenatal Diagnosis Prevalence, 3) CA Termination of pregnancy, 4) Down Syndrome livebirth prevalence, 5) CA Paediatric Surgery and 6) Neural Tube Defect total prevalence. Data presented for this report pertained to all cases (live births, foetal deaths or stillbirths after 20 weeks of gestation and terminations of pregnancy for foetal anomaly) of CA from 27 full member registries of EUROCAT that could provide data for at least three years during the period 2004–2008. Prevalence of anomalies, prenatal diagnosis, terminations of pregnancy for foetal anomaly (TOPFA), paediatric surgery and perinatal mortality were calculated per 1,000 births. Results The overall perinatal mortality was approximately 1.0 per 1,000 births for EUROCAT registries with almost half due to foetal and the other half due to first week deaths. There were wide variations in perinatal mortality across the registries with the highest rates observed in Dublin and Malta, registries in countries where TOPFA are illegal, and in Ukraine. The overall perinatal mortality across EUROCAT registries slightly decreased between 2004 and 2008 due to a decrease in first week deaths. The prevalence of TOPFA was fairly stable at about 4 per 1,000 births. There were variations in live birth prevalence of cases typically requiring surgery across the registries; however for most registries this prevalence was between 3 and 5 per 1,000 births. Prevalence of NTD decreased by about 10% from 1.05 in 2004 to 0.94 per 1,000 in 2008. Conclusion It is hoped that by publishing the data on EUROCAT indicators, the public health importance of congenital anomalies can be clearly summarised to policy makers, the need for accurate data from registries

  13. Incidence and Risks of Congenital Anomalies of Kidney and Urinary Tract in Newborns

    PubMed Central

    Tain, You-Lin; Luh, Hsing; Lin, Ching-Yuang; Hsu, Chien-Ning

    2016-01-01

    Abstract 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

  14. 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…

  15. 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…

  16. 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. PMID:25595573

  17. [Stereovectorcardiography. Analysis of congenital excitation-conduction anomalies using a new type of microelectronic equipment (author's transl)].

    PubMed

    Schmidt-Redemann, B; Haap, K; Krause, H; von Savigny, L; Behrens, U

    1980-04-01

    The results of the first clinical trial of a stereo-VCG used for the quantitative and qualitative analysis of congenital anomalies of excitation-conduction are elaborated and discussed. Normal values for paediatric cardiological patients were calculated for the following parameters with the help of measurements from 78 patients: Pmax, Rmax, Tmax-stereovectors, their elevation and azimut, the stereo-angle between Rmax/Tmax, Pmax/Tmax and Pmax/Rmax as well as the periods from the beginning of the ventricular excitation until Rmax and Tmax. The patients were divided into 4 age groups. The group of normal individuals was compared with 22 patients having anomalies of conduction. The results show that this new technique allows more differentiated analyses of the vector loops registered according to Frank's orthogonal corrected registering system than the conventional measurements in cases of congenital anomalies. PMID:7456595

  18. 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

  19. Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).

    PubMed

    Renkema, Kirsten Y; Winyard, Paul J; Skovorodkin, Ilya N; Levtchenko, Elena; Hindryckx, An; Jeanpierre, Cécile; Weber, Stefanie; Salomon, Rémi; Antignac, Corinne; Vainio, Seppo; Schedl, Andreas; Schaefer, Franz; Knoers, Nine V A M; Bongers, Ernie M H F

    2011-12-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) are the commonest cause of chronic kidney disease in children. Structural anomalies within the CAKUT spectrum include renal agenesis, kidney hypo-/dysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. While most CAKUT cases are sporadic, familial clustering of CAKUT is common, emphasizing a strong genetic contribution to CAKUT origin. Animal experiments demonstrate that alterations in genes crucial for kidney development can cause experimental CAKUT, while expression studies implicate mislocalization and/or aberrant levels of the encoded proteins in human CAKUT. Further insight into the pathogenesis of CAKUT will improve strategies for early diagnosis, follow-up and treatment. Here, we outline a collaborative approach to identify and characterize novel factors underlying human CAKUT. This European consortium will share the largest collection of CAKUT patients available worldwide and undertake multidisciplinary research into molecular and genetic pathogenesis, with extension into translational studies to improve long-term patient outcomes. PMID:22121240

  20. 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. PMID:24066006

  1. 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

  2. Bayesian Spatial-temporal Model for Cardiac Congenital Anomalies and Ambient Air Pollution Risk Assessment

    PubMed Central

    Warren, Joshua; Fuentes, Montserrat; Herring, Amy; Langlois, Peter

    2013-01-01

    We introduce a Bayesian spatial-temporal hierarchical multivariate probit regression model that identifies weeks during the first trimester of pregnancy which are impactful in terms of cardiac congenital anomaly development. The model is able to consider multiple pollutants and a multivariate cardiac anomaly grouping outcome jointly while allowing the critical windows to vary in a continuous manner across time and space. We utilize a dataset of numerical chemical model output which contains information regarding multiple species of PM2.5. Our introduction of an innovative spatial-temporal semiparametric prior distribution for the pollution risk effects allows for greater flexibility to identify critical weeks during pregnancy which are missed when more standard models are applied. The multivariate kernel stick-breaking prior is extended to include space and time simultaneously in both the locations and the masses in order to accommodate complex data settings. Simulation study results suggest that our prior distribution has the flexibility to outperform competitor models in a number of data settings. When applied to the geo-coded Texas birth data, weeks 3, 7 and 8 of the pregnancy are identified as being impactful in terms of cardiac defect development for multiple pollutants across the spatial domain. PMID:23482298

  3. 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. PMID:26283594

  4. The incidence of congenital anomalies associated with cleft palate/cleft lip and palate in neonates in the Konya region, Turkey.

    PubMed

    Altunhan, Hüseyin; Annagür, Ali; Konak, Murat; Ertuğrul, Sabahattin; Ors, Rahmi; Koç, Hasan

    2012-09-01

    Additional congenital anomalies have often been found in patients with orofacial clefts. We wanted to find out the incidence and type of congenital malformations that may accompany cleft palate (CP) and cleft lip and palate (CLP) in babies born in the Konya region. A total of 121 newborn babies with CP or CLP were prospectively included in the study, and all were assessed in detail for congenital anomalies. Of 121 babies, 86 (71%) had CLP and 35 (29%) had CP. There was at least one congenital malformation in 80 (66%) of the cases. Additional congenital malformations were seen in 26 (74%) of the 35 with isolated CP, and 54 (63%) in the 86 patients with CLP (p<0.05). The most common congenital malformation was congenital heart disease, followed by head and neck anomalies. The most common congenital heart disease was atrial septal defect. A serious chromosomal anomaly was found in 18/121 patients with CP or CLP (15%). Of the 80 babies in whom congenital malformations were found, 31 (39%) had dysmorphic features. While 21 (68%) of dysmorphic cases had isolated CP, 10 (32%) had CLP (p<0.05). The rates of premature delivery, intrauterine growth retardation, and consanguinity between parents were higher in patients with CP or CLP. The neonatal mortality was 20% (n=24). Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with CP and CLP, and these anomalies significantly increase their morbidity and mortality. All newborn babies with CP and CLP should be screened for additional congenital anomalies, particularly of the cardiovascular system. PMID:21880407

  5. Timing of androgen receptor disruption and estrogen exposure underlies a spectrum of congenital penile anomalies

    PubMed Central

    Armfield, Brooke A.; Cohn, Martin J.

    2015-01-01

    Congenital penile anomalies (CPAs) are among the most common human birth defects. Reports of CPAs, which include hypospadias, chordee, micropenis, and ambiguous genitalia, have risen sharply in recent decades, but the causes of these malformations are rarely identified. Both genetic anomalies and environmental factors, such as antiandrogenic and estrogenic endocrine disrupting chemicals (EDCs), are suspected to cause CPAs; however, little is known about the temporal window(s) of sensitivity to EDCs, or the tissue-specific roles and downstream targets of the androgen receptor (AR) in external genitalia. Here, we show that the full spectrum of CPAs can be produced by disrupting AR at different developmental stages and in specific cell types in the mouse genital tubercle. Inactivation of AR during a narrow window of prenatal development results in hypospadias and chordee, whereas earlier disruptions cause ambiguous genitalia and later disruptions cause micropenis. The neonatal phase of penile development is controlled by the balance of AR to estrogen receptor α (ERα) activity; either inhibition of androgen or augmentation of estrogen signaling can induce micropenis. AR and ERα have opposite effects on cell division, apoptosis, and regulation of Hedgehog, fibroblast growth factor, bone morphogenetic protein, and Wnt signaling in the genital tubercle. We identify Indian hedgehog (Ihh) as a novel downstream target of AR in external genitalia and show that conditional deletion of Ihh inhibits penile masculinization. These studies reveal previously unidentified cellular and molecular mechanisms by which antiandrogenic and estrogenic signals induce penile malformations and demonstrate that the timing of endocrine disruption can determine the type of CPA. PMID:26598695

  6. 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

  7. The value of the study of natural history in genetic disorders and congenital anomaly syndromes.

    PubMed Central

    Hall, J G

    1988-01-01

    The study of the natural history of genetic disorders and syndromes with congenital anomalies and dysmorphic features is a challenging and often neglected area. There are many reasons to pursue this type of research but it requires special clinical skills and a considerable amount of hard work. Setting up protocols and collecting data is complex and time consuming. Frequently, helpful clues for a particular disorder come from the study of the natural history of other disorders. Older affected subjects and unique cases with unusual features are often most important in unravelling the 'normal' course of a disease or recognising the basic defect. The study of natural history from individual patients and their records is complementary to population or registry based studies because it identifies individual variations and clinical heterogeneity. The understanding of the natural history of a particular disorder is of importance both to the affected person and their family and to the physicians caring for them. It is also useful to the basic researcher trying to determine the pathogenetic mechanism causing the disorder. In many ways, clinical geneticists have learned the art of caring for patients, as well as the challenges of clinical genetics, by becoming apprentices to and studying in depth specific disease entities. PMID:3050091

  8. Two Congenital Anomalies in One: An Ectopic Gallbladder with Phrygian Cap Deformity

    PubMed Central

    Rafailidis, Vasileios; Varelas, Sotirios; Kotsidis, Naoum; Rafailidis, Dimitrios

    2014-01-01

    The gallbladder is affected by a large number of congenital anomalies, which may affect its location, number, size, or form. Some of these malformations are very rare and may lead to misdiagnosis. An ectopic gallbladder can be misinterpreted as agenesis of the organ or as a cystic hepatic mass when intrahepatic. Given the frequency and the wide acceptance of the ultrasonographic examination of the biliary tract, radiologists should be aware of these malformations. In some cases, ultrasonographic diagnosis can be difficult. However, the use of Computed Tomography can elucidate such cases. We present the case of a patient whose gallbladder had two combined malformations but caused no symptoms. Namely, the patient had a transverse ectopic gallbladder combined with a “Phrygian cap” deformity. The incidence of ectopic locations of the gallbladder is 0.1–0.7%, whereas the “Phrygian cap” deformity can be found in 4% of patients. There is no other cases with combination of these two entities reported in the literature. Ultrasonographic and CT findings are presented and aspects of this malformation are discussed. The clinical significance of ectopic gallbladder is also emphasized because it may alter the clinical presentation of biliary tract diseases and pose technical problems during surgery. PMID:24716073

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

    PubMed Central

    Yosypiv, Ihor V.

    2012-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live births, account for the most cases of pediatric end-stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life. Although CAKUTs are a part of many known syndromes, only few single-candidate causative genes have been implicated so far in nonsyndromic cases of human CAKUT. Evidence from mouse models supports the hypothesis that non-syndromic human CAKUT may be caused by single-gene defects. Because increasing numbers of children with CAKUT are surviving to adulthood, better understanding of the molecular pathogenesis of CAKUT, development of new strategies aiming at prevention of CAKUT, preservation of renal function, and avoidance of associated cardiovascular morbidity are needed. In this paper, we will focus on the knowledge derived from the study of syndromic and non-syndromic forms of CAKUT in humans and mouse mutants to discuss the role of genetic, epigenetic, and in utero environmental factors in the pathogenesis of non-syndromic forms of CAKUT in children with particular emphasis on the genetic contributions to CAKUT. PMID:22685656

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

    PubMed Central

    Moreta-Suárez, Jesús; de Ugarte-Sobrón, Oskar Sáez; Sánchez-Sobrino, Alberto; Martínez-De Los Mozos, José Luis

    2012-01-01

    Introduction: The pelvic digit or pelvic rib is an unusual congenital anomaly with a finger or rib like bone formation in soft tissues around normal pelvic skeleton. This is a benign lesion and mostly an Incidental finding on radiographs. Most reported cases are asymptomatic and do not require intervention. We report a case of symptomatic pelvic rib that required surgical excision. Case Report: A 57-year-old man presented with a long history of pain and functional limitation in his right hip. On plain radiographs a fusiform bony structure adjacent to the acetabulum was noted. The imaging tests (MRI and CT) suggested the diagnosis of pelvic digit. We performed surgical excision of the lesion through anterior Smith-Peterson approach. The histopathology showed presence of corticomedullary structure. After surgery the patient’s symptoms were relieved. Conclusions: It is important to recognize this lesion on plain radiographs and to confirm by CT scan and make differential diagnosis. In the majority of cases the pelvic digit is asymptomatic and no treatments is needed. However in cases where symptoms can be attributed to pelvic digit an excision will relieve the pain and disability.

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

    PubMed

    Uy, Natalie; Reidy, Kimberly

    2016-03-01

    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

  12. Lateral congenital anomalies of the pharyngeal apparatus: part I. Normal developmental anatomy (embryogenesis) for the surgeon.

    PubMed

    Mirilas, Petros

    2011-09-01

    Knowledge of the embryogenesis of the pharyngeal apparatus is the only means of understanding the "architecture" of the neck. The embryonic pharynx (which includes future oral and nasal cavities) is a much more extensive area than the adult pharynx. The main feature of the developing pharynx is a series of arches, internal pouches, and external clefts, which together comprise the pharyngeal apparatus. This structure is associated with other developing splanchna of the neck, e.g., the thyroid and parathyroid glands, tonsils, and thymus. Within each of the pharyngeal arches are the developing aortic arches and, specific for each arch, cranial nerves. The complex relations of the mesenchymal derivatives of arches (muscles, cartilage, bones) with the neurovascular bundles within each arch are presented and explained. The pharyngeal apparatus undergoes dramatic transformations: pouches and clefts disappear without interruption (interruption would produce gills and support the misnomer "branchial apparatus"). In addition, in the lateroventral neck, somites migrate to produce other muscles such as sternocleidomastoid and trapezius innervated by spinal nerves. Lateral congenital anomalies largely rely on persistence of a cleft/and or pouch or communication between the two. Their tracts have a "crooked" course among other entities generated by alterations that take place during embryogenesis. PMID:21944634

  13. [Genetic Basis of Congenital Anomalies of the Kidney and Urinary Tract].

    PubMed

    Bodria, Monica; Sanna-Cherchi, Simone

    2015-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) occur have an incidence of about 1% and they are one of the most common birth defects. CAKUT is the most common cause of end stage renal disease in children, leading to high morbidity and mortality in these patients. Recent studies indicate a strong genetic component in the determination of CAKUT. The genetic architecture of these malformations involves both point mutations and structural variants. The recent improvement in next-generation sequencing technologies resulted in a boost on discovery of new genes involved in CAKUT. Results from micro-array study have demonstrated that rare structural variants are an important source of genetic variation in patients with CAKUT. Moreover, these structural variants have been proven to be associated with developmental disorders that develop later in life, especially neurodevelopment diseases, such as autism, schizophrenia, epilepsy, intellectual disability, and others. The easy pre-natal diagnosis of CAKUT by ultrasound and the possibility of a rapid molecular diagnosis in a significant fraction of patients, implicate the kidney and urinary tract as new possible sentinels for other diseases that develop later in life, bearing strong implications for personalized medicine. PMID:26479062

  14. Congenital hypothyroidism of dogs and cats: a review.

    PubMed

    Bojanic, K; Acke, E; Jones, B R

    2011-05-01

    Congenital hypothyroidism is a rare and underdiagnosed congenital endocrine disorder in dogs and cats and the true incidence is unknown. The disorder may cause a range of clinical signs depending on the primary defect, which affect production of thyroid hormones; some cases present when adult. Hallmark clinical signs of congenital hypothyroidism are mental impairment and skeletal developmental abnormalities, resulting in disproportionate dwarfism; goitre may or may not be present. Documented causes of congenital hypothyroidism in dogs include deficiency of, or unresponsiveness to, thyrotropin-releasing hormone (TRH) or thyroid-stimulating hormone (TSH), thyroid dysgenesis, dyshormonogenesis and iodine deficiency. In cats, TSH unresponsiveness, thyroid dysgenesis, dyshormonogenesis and iodine deficiency have been confirmed. Adequate replacement therapy results in a successful outcome in the majority of cases, especially when started early in life, as permanent developmental abnormalities can be prevented. This review describes reported cases in dogs and cats, diagnostic investigation, and recommendations for treatment. PMID:21541884

  15. 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

    2014-02-01

    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

  16. 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

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

    PubMed Central

    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.

    2016-01-01

    Objective: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA). Methods: This was a population-based case–malformed control study based on 21 EUROCAT CA registries 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. Results: 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. Conclusions: 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. PMID:27053714

  18. Mutations in SOX17 are Associated with Congenital Anomalies of the Kidney and the Urinary Tract

    PubMed Central

    Gimelli, Stefania; Caridi, Gianluca; Beri, Silvana; McCracken, Kyle; Bocciardi, Renata; Zordan, Paola; Dagnino, Monica; Fiorio, Patrizia; Murer, Luisa; Benetti, Elisa; Zuffardi, Orsetta; Giorda, Roberto; Wells, James M; Gimelli, Giorgio; Ghiggeri, Gian Marco

    2010-01-01

    Congenital anomalies of the kidney and the urinary tract (CAKUT) represent a major source of morbidity and mortality in children. Several factors (PAX, SOX,WNT, RET, GDFN, and others) play critical roles during the differentiation process that leads to the formation of nephron epithelia. We have identified mutations in SOX17, an HMG-box transcription factor and Wnt signaling antagonist, in eight patients with CAKUT (seven vesico-ureteric reflux, one pelvic obstruction). One mutation, c.775T>A (p.Y259N), recurred in six patients. Four cases derived from two small families; renal scars with urinary infection represented the main symptom at presentation in all but two patients. Transfection studies indicated a 5–10-fold increase in the levels of the mutant protein relative to wild-type SOX17 in transfected kidney cells. Moreover we observed a corresponding increase in the ability of SOX17 p.Y259N to inhibit Wnt/β-catenin transcriptional activity, which is known to regulate multiple stages of kidney and urinary tract development. In conclusion, SOX17 p.Y259N mutation is recurrent in patients with CAKUT. Our data shows that this mutation correlates with an inappropriate accumulation of SOX17-p.Y259N protein and inhibition of the β-catenin/Wnt signaling pathway. These data indicate a role of SOX17 in human kidney and urinary tract development and implicate the SOX17–p.Y259N mutation as a causative factor in CAKUT. Hum Mutat 31:1352–1359, 2010. © 2010 Wiley-Liss, Inc. PMID:20960469

  19. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  20. 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

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

    PubMed Central

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

    2013-01-01

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

  2. Interstitial deletion of 8q21{yields}22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant

    SciTech Connect

    Donahue, M.L.; Ryan, R.M.

    1995-03-13

    We describe an infant with a deletion of 8q21{yields}22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a {open_quotes}carp-shaped{close_quotes} mouth, micrognathia, and prominent, apparently low-set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previously noted three cases, helps in delineating a recognizable syndrome. 12 refs., 3 figs., 1 tab.

  3. 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. PMID:26655010

  4. 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

  5. AB016. Developing diagnostic strategy of multiple congenital anomalies in Indonesia

    PubMed Central

    Sjarif, Damayanti Rusli; Aswin, Yulia Ariani

    2015-01-01

    Background Pediatricians quite often must deal with multiple congenital anomalies (MCA). Without a correct diagnosis, many available forms of therapy will be under-or-overused and counseling about prognosis and recurrence risk maybe unrealistic. The basis for diagnosis of MCA involves a combination of defining the physical manifestations and diagnostic genetic testing. Chromosome analysis is a standard practice to unravel the etiology of MCA. Conventional cytogenetic method has limitation in detecting abe1rrations less than 5 Mb in size. Microarray technology could overcome this obstacle. The aim of this study is to develop diagnosis strategy of MCA cases. Methods Seventy two MCA cases were recruited from July 2013 until June 2014. Fifty one subjects were diagnosed phenotypically using OMIM and POSSUM databases. Subsequently, chromosome analysis were performed as a first step of diagnosis strategy. Nine cases among those subjects found to have chromosome aberrations, whereas twelve cases showed normal karyotypes. Eight subjects from the normal karyotype group have a good quality of DNA and proceed to microarray examination. Microarray examination were done at Department of Medical Genetics, UMC Utrecht, Netherlands, using Infinium CytoSNP-850K DNA analysis bead chip kit from Illumina. Chips were scanned using Hi-scan scanner from Illumina. Data were extracted using genome studio software. Data were analyzed using Nexus software. Results Nine out of twenty cases were found to have chromosome aberrations. Those aberrations are:46,XY,add(13)(q34); 46,XY,6 Mar, 17 dmin; 46,XX,r(4)(p16q35); 46,XY,22ps+; 46,XY,add(5)(p15); 47,XX+G; 46,XX/45XX Rob (13,15/q10.2,q10), 45XX Rob (13,14)(q10,q10); 46,XX, ring 13; 45,XY,der(2)del(2)(q37.3)t(2;15)(q37.2;q11.2). Five out of eight subjects which tested by microarray showed normal array. Two subjects showed well known deletion syndrome, which are Wolf-Hirschhorn syndrome and Williams-Beuren syndrome. One case has normal array with

  6. 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

  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. 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.

  9. 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. PMID:20814949

  10. Congenital scoliosis in non-identical twins: case reports and literature review.

    PubMed

    Greenwood, Dean; Bogar, William

    2014-09-01

    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

  11. 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

  12. 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

  13. 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

  14. Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

    PubMed

    Stamm, Demetra S; Aylsworth, Arthur S; Stajich, Jeffrey M; Kahler, Stephen G; Thorne, Leigh B; Speer, Marcy C; Powell, Cynthia M

    2008-07-15

    Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is approximately 2:10,000; however, birth incidence remains unknown. PMID:18553514

  15. 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

  16. Congenital anomaly of craniovertebral junction: atlas-dens fusion with C1 anterior arch cleft.

    PubMed

    Pérez-Vallina, José R; Riaño-Galán, Isolina; Cobo-Ruisánchez, Angeles; Orejas-Rodriguez-Arango, Gonzalo; López-Muñiz, Carlos; Fernández-Martínez, José M

    2002-02-01

    A rare case of congenital atlantoaxial block is reported. A 13-year-old boy had a fusion of a non-separated odontoid process with the anterior arch of the atlas, in association with an anterior midline C1 arch cleft. PMID:11891461

  17. 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.

  18. A rare congenital anomaly, bridge-like appendiceal fistula to the terminal ileum, demonstrated by MDCT.

    PubMed

    Takeuchi, Kayo; Kosaka, Nobuyuki; Kinoshita, Kazuyuki; Sakai, Toyohiko; Sawai, Katsuji; Imamura, Yoshiaki; Kimura, Hirohiko

    2013-08-01

    Although appendiceal anatomical anomalies are very rare, understanding of the anatomical details of these anomalies is important for surgery. In this case report, we present images from multi-detector row computed tomography (MDCT) and histological findings of a rare anatomical appendiceal anomaly originating from the cecum and opening into the terminal ileum like a bridge. These anatomical details were clearly depicted on MDCT with multi-planar reconstruction. MDCT demonstrated a communication between the appendix and terminal ileum. Histological analysis revealed that a normal mucosal layer was maintained from the appendix to the connected ileum, without any evidence of inflammatory or neoplastic changes, and only thickening of the muscular layer of the appendix was identified. Based on these histological findings, the appendix was considered to represent an anatomical anomaly rather than secondary fistula caused by inflammation or neoplasm, which has not yet been reported. PMID:23247734

  19. Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review

    PubMed Central

    Di Prima, Fosca Antonia Francesca; Bellia, Adriano; Inclimona, Genny; Grasso, Francesco; Teresa, Maria; Cassaro, Meli Nazario

    2012-01-01

    Summary Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities. PMID:22905308

  20. 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

  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. 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.

  3. Mirror image duplication of the hands and feet: report of a sporadic case with multiple congenital anomalies.

    PubMed

    Hersh, J H; Dela Cruz, T V; Pietrantoni, M; von Drasek-Ascher, G; Turnquest, M A; Yacoub, O A; Joyce, M R

    1995-11-20

    Mirror image duplication of the hands and feet is a rare entity. Based on 3 previous reports, findings include nasal abnormalities, dimelia of ulna and fibula, tibial hypoplasia and mirror image duplication of hands and feet. We report on a sporadic case in which mirror image duplication was associated with multiple congenital anomalies. Although these cases may represent variable expression of the same dominantly transmitted complex polysyndactyly syndrome, it is possible that mirror image duplication of the hands and feet is a manifestation common to a number of distinct clinical entities. During limb bud development, duplication and aberrant positioning of the zone of polarizing activity in relation to the apical ectodermal ridge may account for the anatomic abnormalities of the hands and feet in these patients. PMID:8599358

  4. Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

    PubMed Central

    Braegger, C; Bottani, A; Hallé, F; Giedion, A; Leumann, E; Seger, R; Willi, U; Schinzel, A

    1991-01-01

    We report a 6 year old male with a pattern of malformations and anomalies including intrauterine growth retardation, microcephaly, psychomotor retardation, a pattern of craniofacial anomalies (flat face, hypertelorism, epicanthic folds, strabismus, short nose, low set ears), hypospadias and cryptorchidism, bilateral partial cutaneous syndactyly between fingers 2 to 5 and toes 2 to 4, postaxial polydactyly of the fingers and toes, severe conductive hearing loss, hypoplasia of the ischiadic bones, complex renal dysfunction, hypogammaglobulinaemia with proneness to bacterial infections of the upper and lower respiratory tract, and recurrent pseudomembranous enterocolitis. The parents are cousins of Turkish origin. Images PMID:1999836

  5. Families of children with congenital heart disease: A literature review.

    PubMed

    Wei, Holly; Roscigno, Cecelia I; Hanson, Cherissa C; Swanson, Kristen M

    2015-01-01

    In 2000 and 2002, the National Heart, Lung, and Blood Institute launched two initiatives to encourage treatment innovations and research on children with heart disease and their families. Since then, no systematic reviews have examined the evidence regarding the impacts of having a child with congenital heart disease (CHD) on families. This review synthesized key findings regarding families of children with CHD, critiqued research methods, described what has been done, and provided recommendations for future inquiry. Databases searched included PubMed, CINAHL, Family & Society Studies Worldwide, Women's Studies International, and PsycINFO. The literature search followed the PRISMA guidelines. As a result, ninety-four articles were reviewed. Four major themes were derived: parents' psychological health, family life, parenting challenges, and family-focused interventions. In conclusion, while they found parents having psychological symptoms, researchers did not explore parents' appraisals of what led to their symptoms. Research is needed to explore parents' experiences and expectations. PMID:26404115

  6. 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

  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. PMID:26497631

  8. 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

  9. 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. PMID:26742393

  10. Congenital Temporomandibular Joint Ankylosis: Case Report and Literature Review.

    PubMed

    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

  11. 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

  12. Congenital funnel anus in children: associated anomalies, surgical management and outcome.

    PubMed

    Suomalainen, Anna; Wester, Tomas; Koivusalo, Antti; Rintala, Risto J; Pakarinen, Mikko P

    2007-12-01

    Funnel anus (FA) is a rare and distinct type of anorectal malformation characterized by a skin-lined deep anal funnel, missing transitional epithelium and stenosis secondary to fibrotic internal sphincter. We aimed to characterize associated anomalies, surgical management and outcome of children with FA. The hospital records of 11 consecutive children (7 boys) treated for FA between 1992 and 2006 were screened. The collected data included the type of anorectal malformation, surgical management, associated anomalies, results of diagnostic investigations and outcome. Only one patient was free of any associated malformation. Six patients had a complete Currarino syndrome. Seven patients had a hemisacrum (scimitar) and tethered cord was present in two cases. Six patients underwent excision of a benign presacral teratoma. Anal stenosis associated with FA was managed by serial dilatations. Subsequent resection of the megarectosigmoid secondary to refractory constipation was performed on five occasions. Three patients underwent coloanal pull-through for Hirschsprung's disease (HD). The level of aganglionosis was at the rectosigmoid junction in two cases and low in the rectum in one. One additional patient had hypoganglionosis. Of the three patients with HD two also had Down's syndrome. After median follow-up of 6.5 (0.3-13.5) years four patients have normal bowel function and four suffer from soiling. Two patients with HD and Down's syndrome and one patient with an undefined syndrome are fecally incontinent. Associated anomalies are common and diverse in children with FA. Pelvic MRI, sacral radiography, evaluation of the urinary tract and rectal biopsies are recommended as routine investigations in cases of FA. Surgical care of these patients is demanding and should be confined to dedicated centers. PMID:17929036

  13. 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

  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. De novo ring chromosome 6 in a child with multiple congenital anomalies.

    PubMed

    Ahzad, Hadi Ahmad; Ramli, Siti Fatimah; Loong, Tan May; Salahshourifar, Iman; Zilfalil, Bin Alwi; Yusoff, Narazah Mohd

    2010-01-01

    Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child, a product of a non consanguineous marriage, who presented with developmental retardation, hypertelorism, microcephaly, flat occiput, broad nasal bridge, large ears, micrognathia, wide spaced nipples, protruding umbilicus, short stubby fingers, clinodactyly, single palmar crease, short neck with no obvious webbing, and congenital heart defect. Conventional karyotyping and Whole Chromosome Paint of the peripheral leukocytes showed 46,XY,r(6)(p25q27) karyotype with plausible breakpoints at p25 and q27 end. Conventional karyotyping of both parents showed normal karyotype. To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality. PMID:21063149

  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 Central

    Wang, Ximing; Duan, Yanhua; Xu, Wenjian; Li, Haiou; Cao, Ting; Liu, Xuejun; Ji, Xiaopeng; Cheng, Zhaoping; Wang, Anbiao

    2014-01-01

    Purpose 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). Methods 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. Results 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. Conclusions 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. PMID:25546178

  17. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

    PubMed Central

    Hwang, Daw-Yang; Dworschak, Gabriel C.; Kohl, Stefan; Saisawat, Pawaree; Vivante, Asaf; Hilger, Alina C.; Reutter, Heiko M.; Soliman, Neveen A.; Bogdanovic, Radovan; Kehinde, Elijah O.; Tasic, Velibor; Hildebrandt, Friedhelm

    2014-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations, however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of genotype-phenotype correlation. To determine the percentage of cases with CAKUT that can be explained by mutations in known CAKUT genes, we analyzed the coding exons of the 17 known dominant CAKUT-causing genes in a cohort of 749 individuals from 650 families with CAKUT. The most common phenotypes in this CAKUT cohort were 288 with vesicoureteral reflux, 120 with renal hypodysplasia and 90 with unilateral renal agenesis. We identified 37 different heterozygous mutations (33 novel) in 12 of the 17 known genes in 47 patients from 41 of the 650 families (6.3%). These mutations include (number of families): BMP7 (1), CDC5L (1), CHD1L (5), EYA1 (3), GATA3 (2), HNF1B (6), PAX2 (5), RET (3), ROBO2 (4), SALL1 (9), SIX2 (1), and SIX5 (1). Furthermore, several mutations previously reported to be disease-causing are most likely benign variants. Thus, in a large cohort over 6% of families with isolated CAKUT are caused by a mutation in 12 of 17 dominant CAKUT genes. Our report represents one of the most in-depth diagnostic studies of monogenic causes of isolated CAKUT in children. PMID:24429398

  18. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

    PubMed

    Furtado, Larissa V; Bayrak-Toydemir, Pinar; Hulinsky, Becki; Damjanovich, Kristy; Carey, John C; Rope, Alan F

    2010-11-01

    Mutations of the gene coding for emopamil binding protein (EBP) can lead to deficient activity of 3-β-hydroxysteroid Δ(8), Δ(7) isomerase and are most commonly identified in. association with the X-linked dominant (male lethal) chondrodysplasia punctata (CDPX2), also known as Conradi-Hunermann syndrome. Our group has identified a hemizygous EBP mutation in males with a phenotype remarkable for Dandy-Walker malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in affected males and the family histories were supportive of an X-linked -recessive condition. The regularly reproducible constellation of cardinal features aligns very nicely with other disorders of sterol biosynthesis and is further distinguished by an absence of arty clinical manifestations in obligate carrier females. Biochemical analysis of blood from cases demonstrated markedly increased levels of 8(9)-cholestenol, and 8-dehydroeholesterol and a mildly increased level of 7-dehydrocholesterol; a similar pattern to what is seen in CDPX2. Sequence analysis of EJJP revealed a novel hemizygous missense mutation at position 141, predictive of a tryptophan to cysteine substitution (c.141G>T, p.W47C). The unaffected mothers were heterozygous for the c.141G>T mutation arid showed random X-inactivation pattern upon. PMID:20949533

  19. 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

  20. 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

  1. 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. PMID:26710751

  2. Acquired and congenital disorders of sung performance: A review.

    PubMed

    Berkowska, Magdalena; Dalla Bella, Simone

    2009-01-01

    Many believe that the majority of people are unable to carry a tune. Yet, this widespread idea underestimates the singing abilities of the layman. Most occasional singers can sing in tune and in time, provided that they perform at a slow tempo. Here we characterize proficient singing in the general population and identify its neuronal underpinnings by reviewing behavioral and neuroimaging studies. In addition, poor singing resulting from a brain injury or neurogenetic disorder (i.e., tone deafness or congenital amusia) is examined. Different lines of evidence converge in indicating that poor singing is not a monolithic deficit. A variety of poor-singing "phenotypes" are described, with or without concurrent perceptual deficits. In addition, particular attention is paid to the dissociations between specific abilities in poor singers (e.g., production of absolute vs. relative pitch, pitch vs. time accuracy). Such diversity of impairments in poor singers can be traced to different faulty mechanisms within the vocal sensorimotor loop, such as pitch perception and sensorimotor integration. PMID:20523851

  3. 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

    2016-01-01

    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. PMID:27525896

  4. 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. PMID:26811390

  5. 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

  6. Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome?

    PubMed

    Unuigbe, E I; Azubike, C A; Okaka, E I; Osarenkhoe, J O; Onuora, V C

    2007-03-01

    Townes Brocks syndrome is an autosomal dominant multiple malformations syndrome comprising of ear anomalies/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, heart defects and sometimes mental retardation. This report presents the case of a 21-year-old secondary school leaver as a likely case of Townes-Brocks syndrome. He was born with congenital abnormalities consisting of fixed flexion deformities of hands, wrist and elbows, urethral meatal stenosis, scoliosis and aortic stenosis. He was diagnosed with obstructive uropathy at the age of 19 years and subsequently developed chronic renal failure. The report aims to highlight the need for early recognition of potentially preventable conditions, which, if left unattended to, can lead to unnecessary fatality. PMID:17668723

  7. Congenital amusia.

    PubMed

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. PMID:23622169

  8. Rare Upper Airway Anomalies.

    PubMed

    Windsor, Alanna; Clemmens, Clarice; Jacobs, Ian N

    2016-01-01

    A broad spectrum of congenital upper airway anomalies can occur as a result of errors during embryologic development. In this review, we will describe the clinical presentation, diagnosis, and management strategies for a few select, rare congenital malformations of this system. The diagnostic tools used in workup of these disorders range from prenatal tests to radiological imaging, swallowing evaluations, indirect or direct laryngoscopy, and rigid bronchoscopy. While these congenital defects can occur in isolation, they are often associated with disorders of other organ systems or may present as part of a syndrome. Therefore workup and treatment planning for patients with these disorders often involves a team of multiple specialists, including paediatricians, otolaryngologists, pulmonologists, speech pathologists, gastroenterologists, and geneticists. PMID:26277452

  9. Associated congenital anomalies between neonates with short-gap and long-gap esophageal atresia: a comparative study

    PubMed Central

    Aslanabadi, Saeid; Ghabili, Kamyar; Rouzrokh, Mohsen; Hosseini, Mohammad Bagher; Jamshidi, Masoud; Adl, Farzad Hami; Shoja, Mohammadali M

    2011-01-01

    Background: Predicting the presence of long-gap esophageal atresia (EA) prior to the surgery is of clinical importance. No comparison between short-gap and long-gap EA for the prevalence of VACTERL and non-VACTERL-type anomalies has yet been performed. Objective: The aim of this study was to compare VACTERL and non-VACTERL-type anomalies between patients with short-gap and long-gap EA. Methods: Retrospectively, medical records of all newborns managed for EA/tracheoesophageal fistula (TEF) in Tabriz Children’s Hospital and Tehran Mofid Hospital between 2007 and 2010 were evaluated. Demographic data and associated anomalies including both the VACTERL and non-VACTERL-type defects were listed. The VACTERL spectrum defects covered vertebral/costal, anorectal, cardiovascular, TEF, and renal- or radial-type limb anomalies. The non-VACTERL-type anomalies included hydrocephalus, orofacial defects, respiratory system anomalies, gastrointestinal anomalies, genital anomalies, and non-VACTERL limb defects. Demographic data, and the VACTERL and non-VACTERL-type anomalies were compared among children with long-gap EA and those with short-gap EA. Results: Two hundred and seventy-six children were included in the study: 230 (83.3%) in the short-gap EA group and 46 (16.7%) in the long-gap EA group. Although prevalence of the VACTERL spectrum anomalies did not differ between the two groups, the non-VACTERL anomaly was more common in the long-gap EA group (P = 0.02). Among the VACTERL-type defects, TEF was detected in 30 (65.2%) and 218 (94.7%) patients in long-gap and short-gap EA groups, respectively (P = 0.0001). Conclusion: The non-VACTERL-type anomalies, but not the VACTERL spectrum defects, are more frequent in patients with long-gap EA than those with short-gap EA. PMID:21760750

  10. Congenital Anomalies and Rhabdoid Tumor Associated with 22q11 Germline Deletion and Somatic Inactivation of the SMARCB1 Tumor Suppressor

    PubMed Central

    Toth, George; Zraly, Claudia B.; Thomson, Tricia L.; Jones, Carolyn; Lapetino, Shawn; Muraskas, Jonathan; Zhang, Jiwang; Dingwall, Andrew K.

    2011-01-01

    The most common microdeletion in humans involves the 22q11 region. Congenital anomalies associated with 22q11 loss include cardiac and facial defects. Less frequent is the co-presentation of malignant rhabdoid tumors that are highly aggressive childhood malignancies typically found in renal or extra-renal soft tissues and central nervous system. A newborn patient presented with multiple congenital anomalies consistent with 22q11 deletion syndrome including cleft lip and palate, ear tags and ventricular septal defects co-presenting with an axillary rhabdoid tumor. Comparative genomic hybridization revealed a 2.8 Mb germline deletion in the 22q11.2 region containing genes required for normal fetal development and the SMARCB1 tumor suppressor gene. Analysis of tumor DNA revealed a somatic deletion of exon 7 in the second allele of SMARCB1. Expression of SMARCB1 was absent, while tumor markers including MYC, GFAP and CLAUDIN-6 were upregulated. The presence of tandem oriented BCRL modules located within interspersed low copy repeat elements throughout the 22q11 distal region may predispose this area for microdeletions through nonalleleic homologous recombination. PMID:21412926

  11. 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. PMID:24714026

  12. Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

    PubMed

    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

    2016-04-01

    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

  13. Congenital sternoclavicular dermoid sinus.

    PubMed

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  14. Müllerian anomalies.

    PubMed

    Gell, Jennifer S

    2003-11-01

    The reproductive organs in both males and females consist of gonads, internal ductal structures, and external genitalia. Normal sexual differentiation is dependent on the genetic sex determined by the presence or absence of the Y chromosome at fertilization. Testes develop under the influence of the Y chromosome and ovaries develop when no Y chromosome is present. In the absence of testes and their normal hormonal products, sexual differentiation proceeds along the female pathway, resulting in a normal female phenotype. Anatomic gynecologic anomalies occur when there is failure of normal embryologic ductal development. These anomalies include congenital absence of the vagina as well as defects in lateral and vertical fusion of the Müllerian ducts. Treatment of müllerian anomalies begins with the correct identification of the anomaly and an understanding of the embryologic origin. This includes evaluation for other associated anomalies such as renal or skeletal abnormalities. After correct identification, treatment options include nonsurgical as well as surgical intervention. This chapter serves to review the embryology and development of the reproductive system and to describe common genital tract anomalies. Details of surgical or nonsurgical correction of these anomalies are presented. PMID:14724770

  15. 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

  16. 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

  17. Congenital Posterior Spinal Agenesis Leads to L2-L3 Instability: a Case Report and Review of the Literature.

    PubMed

    Samadian, Mohammad; Hosseinzadeh Bakhtevari, Mehrdad; Jahangiri Babadi, Armin; Nabizadeh, Naveed; Rezaei, Omidvar

    2015-12-01

    Congenital absence of posterior elements of the lumbar column is an extremely uncommon anomaly and we found no any reported cases of incomplete congenital absence of the posterior elements of lumbar vertebra in the literature.  Here, we present a case with congenital absence of posterior elements of lumbar vertebra. The patient was a 51-year-old man with a history of 20 years of back pain. Imaging of the lumbar spine revealed instability in L2 and L3 and there was evidence of retrolisthesis, agenesis of pars interarticularis, spinous processes, lamina, transverse processes and facets at L2 and L3. The patient underwent lumbar discectomy and posterior spinal fixation and instrumentation was then done using pedicle screw fixation. Four pedicle screws, two rods, and one cross link were employed to bilaterally fix the L2 and L3 and then we used autograft and allograft bone for interbody fusion, substitutes from iliac crest for posterior fusion. There were no postoperative complications, and at 6, 12 and 24 months of follow-up, his leg and back pain had improved, and the patient did not need any analgesic for pain relief. Complete congenital absence of the lumbar posterior element has been rarely reported in the literature. Patients whose congenital anomalies lead to segmental instability are surgical fusion candidates, but if these anomalies occur in pars interarticularis such as spondylolysis isthmus, fixation and inter segmental fusion techniques are useful. PMID:26621021

  18. Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature.

    PubMed

    Rose, N C; Kaplan, P; Scott, S; Kousoulis, A; Librizzi, R

    1992-01-01

    A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed. PMID:1418143

  19. Cardiac Arrhythmias In Congenital Heart Diseases

    PubMed Central

    Khairy, Paul; Balaji, Seshadri

    2009-01-01

    Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy. PMID:19898654

  20. 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. PMID:26148560

  1. Congenital Intratympanic Cholesteatoma in an Adult Patient: A Case Report and Review of the Literature.

    PubMed

    Pedruzzi, Barbara; Mion, Marta; Comacchio, Francesco

    2016-04-01

    Congenital cholesteatoma within the tympanic membrane is an uncommon entity, with only few cases being documented. The aetiopathogenesis of this lesion is still unknown; however, when cholesteatoma develops in subjects without any history of previous ear inflammation, as in the case we report here, an embryologic origin is deeply suspected. An acquired origin is hypothesized in patients with a previous history of an inflammatory process of the external or middle ear because of the proliferation of the basal cell layer of the tympanic membrane epithelium. We report a rare case of congenital cholesteatoma of the tympanic membrane in an adult patient and review the literature. PMID:27340998

  2. Congenital skull indentation: a case report and review of the literature

    PubMed Central

    Shamsian, Negin; Robertson, Andrew Tristan; Anslow, Philip

    2012-01-01

    Congenital depressions of the skull are rare in Western countries. The majority relate to obstetric trauma at delivery. We present a case of a congenital depression of a neonate's skull not relating to obstetric trauma. The child had an ovoid indentation behind the right coronal suture in the temperoparietal region. This skull depression was thought to relate to the position of her right hand in utero. We report her management, neuro-imaging and outcome on follow-up. A literature review is given in brief. PMID:22922910

  3. Congenital Systemic Fungus Infection in Twin Prematurity—A Case Report and Literature Review

    PubMed Central

    Chen, Wei-Yu; Chen, Shu-Jen; Tsai, Shu-Fan; Tsao, Pei-Chen; Tang, Ren-Bin; Soong, Wen-Jun

    2015-01-01

    Congenital candidemia sepsis is a serious condition especially for the prematurity. Early recognition is always not the scenario and this leads to high morbidity and mortality. Twin pregnancy complicates the problems further. This report presents a case of congenital candidiasis in a twin preterm and literatures review of five twin pairs with the same scenario. In conclusion, for twin prematurity, if one is suspected to have invasive candidiasis, both of them should receive a full course of antifungal therapy through the intravenous route. PMID:26199798

  4. Sex prevalence of major congenital anomalies in the United Kingdom: A national population-based study and international comparison meta-analysis

    PubMed Central

    Sokal, Rachel; Tata, Laila J; Fleming, Kate M

    2014-01-01

    Background The aim of this study was to assess sex differences in major congenital anomaly (CA) diagnoses within a national population sample; to examine the influence of sociodemographic and maternal factors on these risks; and to conduct a meta-analysis using estimates from other population-based studies. Methods We conducted a population-based study in a United Kingdom research database of prospectively collected primary care data (The Health Improvement Network) including children born 1990 to 2009 (n = 794,169) and identified major CA diagnoses using EUROCAT (European Surveillance of Congenital Anomalies) classification. Prevalence ratios (PR) were used to estimate the risk of CA in males compared with females for any CA, system-specific subgroups and specific CA diagnoses. In a subpopulation of children whose medical records were linked to their mothers', we assessed the effect of adjusting for sociodemographic and maternal factors on sex odds ratios. PRs were pooled with measures from previously published studies. Results The prevalence of any CA was 307/10,000 in males (95% CI, 302–313) and 243/10,000 in females (95% CI, 238–248). Overall the risk of any CA was 26% greater in males (PR (male: female) 1.26, 95% CI, 1.23–1.30) however there was considerable variation across specific diagnoses. The magnitude and direction of risk did not change for any specific CA upon adjustment for sociodemographic and maternal factors. Our PRs were highly consistent with those from previous studies. Conclusion The overall risk of CA is greater in males than females, although this masked substantial variation by specific diagnoses. Sociodemographic and maternal factors do not appear to affect these risks. Birth Defects Research (Part A) 100:79–91, 2014. © 2014 Wiley Periodicals, Inc. PMID:24523198

  5. 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

  6. Systematic review of the birth prevalence of congenital cytomegalovirus infection in developing countries

    PubMed Central

    Lanzieri, Tatiana M.; Dollard, Sheila C.; Bialek, Stephanie R.; Grosse, Scott D.

    2016-01-01

    Summary Background Congenital cytomegalovirus (CMV) infection is the leading infectious cause of congenital hearing loss and neurodevelopmental disability in developed countries. Information on congenital CMV infection in developing countries appears to be lacking. Methods We conducted a systematic literature review to identify studies from developing countries with population-based samples of at least 300 infants that used laboratory methods established as reliable for the diagnosis of congenital CMV infection. Results Most studies were excluded due to biased samples or inadequate diagnostic methods; consequently the search identified just 11 studies that were from Africa, Asia, and Latin America. The number of newborns tested ranged from 317 to 12 195. Maternal CMV seroprevalence ranged from 84% to 100%. CMV birth prevalence varied from 0.6% to 6.1%. CMV-associated impairments were not documented in most studies. Conclusions Birth prevalence ranges were higher than for Europe and North America, as expected based on the higher maternal CMV seroprevalence. With very limited data available on sequelae, the disease burden of congenital CMV in developing countries remains largely unknown at this time. PMID:24631522

  7. Dental Stigmata of Congenital Syphilis: A Historic Review With Present Day Relevance.

    PubMed

    Nissanka-Jayasuriya, Eranga H; Odell, Edward W; Phillips, Carina

    2016-09-01

    Syphilis was the first sexually transmitted disease to be diagnosed in childhood. Most developed countries controlled syphilis effectively after the 1950s and congenital syphilis became rare. Since the late 1990s there has been a resurgence of syphilis in developed and developing countries and the WHO estimates that at least half a million infants die of congenital syphilis every year. The earliest reference to the dental manifestations of congenital syphilis was by Sir Jonathan Hutchinson, Assistant Surgeon at The London Hospital in 1861. Three main dental defects are described in congenital syphilis; Hutchinson's incisors, Moon's molars or bud molars, and Fournier's molars or mulberry molars. Although many physicians, dentists, and pathologists in developed countries will be aware of the dental features of syphilis, most will never have seen a case or made the diagnosis. The purpose of this article is to review some of the history of congenital syphilis, remind healthcare professionals of the features, and bring to their attention that the changes are still prevalent and that milder cases can be mistaken for other causes of hypoplasia. PMID:26897633

  8. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-03-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed. PMID:27607320

  9. Congenital granular cell lesion of the tongue: a report of two cases and review of the literature.

    PubMed

    Yancoskie, Aaron E; Reebye, Uday N; Segal, Joshua D; Aldape Barrios, Beatriz C; Velasco, Araceli Andrade; Fantasia, John E

    2016-07-01

    The congenital granular cell lesion most commonly occurs on the maxillary or mandibular alveolus of neonates. Extra-alveolar congenital granular cell lesion is exceptionally rare, with only 10 cases reported. Two additional cases occurring on the tongue are presented with a description of the clinical, histopathologic, and immunohistochemical features. The differential diagnosis is discussed, and the literature reviewed. PMID:26712684

  10. Antenatal diagnosis, prevalence and outcome of congenital anomalies of the kidney and urinary tract in Saudi Arabia

    PubMed Central

    Bondagji, Nabeel S.

    2014-01-01

    Objective: To study the prevalence, pattern of distribution, and the outcome of different types of kidney and urinary tract anomalies (CAKUT) diagnosed during the antenatal period. The second objective is to test the accuracy of antenatal diagnosis of CAKUT. Materials and Methods: In a cross-sectional hospital-based study, all cases diagnosed antenatally with urinary tract anomalies at King Abdulaziz University Hospital (KAUH), Jeddah, Kingdom of Saudi Arabia, were studied. The prevalence, pattern of distribution, and immediate postnatal outcomes, in addition to the accuracy of antenatal diagnosis, of those cases are reported. Results: One hundred and forty-one cases of urinary tract anomalies were antenatally diagnosed; postnatal diagnosis was confirmed in 128 cases (90.1%). The prevalence of CAKUT in our population is 3.26 per 1000 births. The most common abnormalities detected were hydronephrosis, polycystic kidney disease, multicystic dysplastic kidney, and renal agenesis, in descending order of frequency. The perinatal mortality rate among fetuses with CAKUT is 310 per 1000, the majority of these cases (90%) occurred in cases with renal parenchyma involvement. Conclusions: The prevalence of different types of CAKUT is higher than that reported in developed countries. Urinary tract anomalies can be accurately diagnosed and classified in the antenatal period using ultrasonography imaging. Antenatal diagnosis is a helpful tool in planning immediate postnatal care and deciding the place for delivery. This might prevent or slow renal function deterioration and help in early identification of patients who need early surgical intervention. PMID:24669120

  11. 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

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

    PubMed

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

    2013-04-01

    Congenital abnormalities of the coronary arteries have an incidence of 1%, and most of these are benign. However, a small number are associated with myocardial ischaemia and sudden death. Various imaging modalities are available for coronary artery assessment. Recently, multi-detector CT has emerged as an accurate diagnostic tool for defining coronary artery anomalies. The purpose of this pictorial essay is to review the dual source CT appearance of congenital anomalies of the coronary arteries in adults. PMID:23551776

  13. Genetic basis for vascular anomalies.

    PubMed

    Kirkorian, A Yasmine; Grossberg, Anna L; Püttgen, Katherine B

    2016-03-01

    The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. PMID:27607321

  14. Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies.

    PubMed

    Johnston, D R; Whittemore, K; Poe, D; Robson, C D; Perez-Atayde, A R

    2011-10-01

    Described is the first case report, to our knowledge, of a middle-ear dermoid in a child with branchio-oto-renal (BOR) syndrome. Radiographic, pathologic, and intraoperative figures are shown. This was a diagnostic and surgical challenge as the presentation was similar to a congenital cholesteatoma and the child had numerous significant temporal bone abnormalities. After the intraoperative findings suggested a non-destructive process, the treatment strategy was altered. This case reiterates the need for a cautious, flexible operative approach in a syndromic child. Included is a relevant review of the literature and a detailed clinical analysis. PMID:21868107

  15. Congenital muscular torticollis in adult patients: literature review and a case report using a harmonic scalpel.

    PubMed

    Pombo Castro, María; Luaces Rey, Ramón; Vázquez Mahía, Inés; López-Cedrún Cembranos, José Luís

    2014-02-01

    Congenital torticollis is characterized by shortening and fibrosis of the sternocleidomastoid (SCM) muscle detected at birth or shortly after birth. This leads to a lateral inclination of the head to the ipsilateral shoulder and chin deviation to the opposite side. When diagnosed early, most cases can be conservatively managed with excellent results. In neglected adult cases, the treatment of this entity is more controversial. A review of the different treatment options in neglected adult cases of congenital torticollis is presented, and a case successfully treated by SCM bipolar release is reported. A 35-year-old woman diagnosed with congenital torticollis was referred to the authors' department. She had been diagnosed at 32 years of age and had been conservatively treated, with no success. Physical examination showed a posterior region of the left SCM muscle hard to palpation, with head tilt to the same side and chin deviation to the right. Bipolar release of the SCM muscle was performed under general anesthesia using the harmonic scalpel. Immobilization with a brace was applied during the first 2 weeks and manual stretching was performed after removal of the brace. Head tilt and movement limitation were resolved, achieving good functional and cosmetic results. Although the best treatment results in congenital torticollis are achieved during the first years of childhood, bipolar release of the SCM muscle followed by postsurgical physical therapy can be effective in neglected adult cases. PMID:24139297

  16. Treatment of a giant congenital melanocytic nevus in the adult: review of the current management of giant congenital melanocytic nevus.

    PubMed

    Su, Jeannie J; Chang, Daniel K; Mailey, Brian; Gosman, Amanda

    2015-05-01

    Giant congenital melanocytic nevi (GCMNs) create cosmetic disfigurements and pose risk for malignant transformation. Adult GCMN cases are uncommon because most families opt for surgical treatment during childhood. We review the current literature on GCMN and present an interesting case of an adult with a GCMN encompassing the entire back with painful nodules exhibiting gross involvement of his back musculature, without pathologic evidence of malignancy. Surgical management was deferred in childhood because of parental desires to allow the patient to make his own decision, and treatment in adulthood was pursued on the basis of the significant impairment of the patient's quality of life and self-esteem due to the massive size and deforming nature of the nevus. The treatment strategy used for this young adult male patient involved a massive en bloc excision of the GCMN with partial resection of the latissimus dorsi, followed by a 5-week staged reconstructive process using dermal regenerative matrices and split-thickness skin grafting. Because of the shift in GCMN management from early surgical management to more conservative management, we may see an increase in adult cases of GCMN. Thus, it is critical to better understand the controversy surrounding early versus delayed management of GCMN. PMID:25664413

  17. Acute gastric volvulus and congenital diaphragmatic hernia, case report and review.

    PubMed

    Pérez-Egido, Laura; Parente, Alberto; Cerdá, Julio Arturo

    2015-01-01

    Congenital diaphragmatic hernia (CDH) is the result of the incomplete fusion and closure of the pleuroperitoneal canal during the fetal development. CDH is usually diagnosed prenatally but, if undiagnosed, the clinical presentation ranges from asymptomatic children to serious respiratory or gastrointestinal symptoms. Acute gastric volvulus associated with CDH is a rare surgical emergency in children. We report two cases of acute gastric volvulus associated with CDH and review the literature. PMID:26612128

  18. 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

  19. A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation

    PubMed Central

    Chang, Eileen I.; Terada, Ryota; Ryan, Nicole J.; Briggs, Laura E.; Chowdhury, Rajib; Zárate, Miguel A.; Sugi, Yukiko; Nam, Hyun-Joo; Benson, D. Woodrow; Anderson, Robert H.; Kasahara, Hideko

    2014-01-01

    Background Heterozygous human mutations of NKX2-5 are highly penetrant and associated with varied congenital heart defects. The heterozygous knockout of murine Nkx2-5, in contrast, manifests less profound cardiac malformations, with low disease penetrance. We sought to study this apparent discrepancy between human and mouse genetics. Since missense mutations in the NKX2-5 homeodomain (DNA binding domain) are the most frequently reported type of human mutation, we replicated this genetic defect in a murine knock-in model. Methods and Results We generated a murine model in a 129/Sv genetic background by knocking-in an Nkx2-5 homeodomain missense mutation previously identified in humans. The mutation was located at homeodomain position 52Arg→Gly (R52G). All the heterozygous neonatal Nkx2-5+/R52G mice demonstrated a prominent trabecular layer in the ventricular wall, so called noncompaction, along with diverse cardiac anomalies, including atrioventricular septal defects, Ebstein’s malformation of the tricuspid valve, and perimembranous and/or muscular ventricular septal defects. In addition, P10 Nkx2-5+/R52G mice demonstrated atrial septal anomalies, with significant increase in the size of the inter-atrial communication and fossa ovalis, and decrease in the length of the flap valve compared to control Nkx2-5+/+ or Nkx2-5+/− mice. Conclusion The results of our study demonstrate that heterozygous missense mutation in the murine Nkx2-5 homeodomain (R52G) are highly penetrant, and result in pleiotropic cardiac effects. Thus, in contrast to heterozygous Nkx2-5 knockout mice, the effects of the heterozygous knock-in mimic findings in humans with heterozygous missense mutation in NKX2-5 homeodomain. PMID:25028484

  20. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

    PubMed

    Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

    2016-02-01

    Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. PMID:26507407

  1. Gene of a new X-linked syndrome with multiple congenital anomalies and severe mental retardation maps in Xp22-pter

    SciTech Connect

    Wittwer, B.; Kircheisen, R.; Leutelt, J.

    1994-09-01

    We report on a family with 3 males presenting with a not yet described new X-chromosomal syndrome of multiple congenital anomalies and severe mental retardation. Two sisters have (with 3 different partners) 3 severely handicapped sons. In each case, oligohydramnios and intrauterine growth retardation were observed. Delivery was in the 34th, 31st, and 38th gestational week, respectively. Two of the patients had microcephaly (head circumference of the third case at birth is unknown). On physical examination, high and broad forehead, frontal bossing, downslanting palpebral fissures, long philtrum, thin upper lip, high arched palate, and deeply set anteverted ears were seen. One of the boys has microphthalmos and sclerocornea, while his cousin shows atrophy of the optic nerve. All three patients show a severe statomotor and mental retardation, they are most likely deaf and blind, have pathologic EEG, and seizures. Important additional findings are hydronephrosis, renal duplication, vesicorenal reflux, and agenesis of corpus callosum. The karyotype is normal (46,XY). We performed a segregation analysis in the family using more than 20 DNA polymorphisms distributed over the X chromosome. Linkage without recombination was found to KAL, DXS278, and DXS16 in Xp22. Analysis of multiple informative meioses suggested a location of the disease locus distal to DXS207. Recombinants were identified with all other marker loci from Xp22-Xpter.

  2. A unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies

    SciTech Connect

    Levin, M.L.; Shaffer, L.G.; Lewis, R.A.

    1994-09-01

    Contiguous gene or microdeletion syndromes occurring on chromosome 17p include the Smith-Magenis and Miller-Dieker syndromes associated with interstitial deletions of 17p11.2 and 17p13.3, respectively. Other cytogenetically visible interstitial deletions on chromosome 17 are quite rare or unique. We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del(17)(q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. We have compared our patient`s phenotype and karyotype to two reported patients with deletion 17q with minor clinical overlap. The most striking clinical features of this patient were severe intrauterine growth retardation, widespread skeletal malformations (split sutures, hypoplastic acetabulae and scapulae, vertebral anomalies, and digital hypoplasia), cutis verticis gyrata, dysmorphic facial features, and oropharyngeal malformations (absent uvula and submucous cleft palate). Mild congenital heart disease and anomalous optic nerves were also present. Parental karyotyps were normal. DNA from parents and patient has been collected and cell lines established on both parents. Genes which have been previously mapped to the region that is apparently deleted in this patient include: chorionic somatomammotropin A, growth hormone (normal), acid alpha-glucosidase, apolipoprotein H, and the alpha peptide of type 4 voltage gated sodium channel. As in other clinical cytogenetic syndromes, further descriptions of patients with similar or overlapping rearrangements in this region will be necessary to delineate genotype/phenotype correlations for chromosome 17.

  3. SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.

    PubMed

    Uehara, Daniela Tiaki; Hayashi, Shin; Okamoto, Nobuhiko; Mizuno, Seiji; Chinen, Yasutsugu; Kosaki, Rika; Kosho, Tomoki; Kurosawa, Kenji; Matsumoto, Hiroshi; Mitsubuchi, Hiroshi; Numabe, Hironao; Saitoh, Shinji; Makita, Yoshio; Hata, Akira; Imoto, Issei; Inazawa, Johji

    2016-04-01

    Intellectual disability (ID) is a heterogeneous condition affecting 2-3% of the population, often associated with multiple congenital anomalies (MCA). The genetic cause remains largely unexplained for most cases. To investigate the causes of ID/MCA of unknown etiology in the Japanese population, 645 subjects have been recruited for the screening of pathogenic copy-number variants (CNVs). Two screenings using bacterial artificial chromosome (BAC) arrays were previously performed, which identified pathogenic CNVs in 133 cases (20.6%; Hayashi et al., J. Hum. Genet., 2011). Here, we present the findings of the third screening using a single-nucleotide polymorphism (SNP) array, performed in 450 negative cases from our previous report. Pathogenic CNVs were found in 22 subjects (4.9%), in which 19 CNVs were located in regions where clinical significance had been previously established. Among the 22 cases, we identified PPFIA2 as a novel candidate gene for ID. Analysis of copy-neutral loss of heterozygosity (CNLOH) detected one case in which the CNLOH regions seem to be significant. The SNP array detected a modest fraction of small causative CNVs, which is explained by the fact that the majority of causative CNVs have larger sizes, and those had been mostly identified in the two previous screenings. PMID:26740234

  4. Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

    PubMed Central

    Brett, Maggie; McPherson, John; Zang, Zhi Jiang; Lai, Angeline; Tan, Ee-Shien; Ng, Ivy; Ong, Lai-Choo; Cham, Breana; Tan, Patrick; Rozen, Steve; Tan, Ene-Choo

    2014-01-01

    Developmental delay and/or intellectual disability (DD/ID) affects 1–3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81–84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322× to 798×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. PMID:24690944

  5. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

    PubMed

    Hwang, Daw-Yang; Kohl, Stefan; Fan, Xueping; Vivante, Asaf; Chan, Stefanie; Dworschak, Gabriel C; Schulz, Julian; van Eerde, Albertien M; Hilger, Alina C; Gee, Heon Yung; Pennimpede, Tracie; Herrmann, Bernhard G; van de Hoek, Glenn; Renkema, Kirsten Y; Schell, Christoph; Huber, Tobias B; Reutter, Heiko M; Soliman, Neveen A; Stajic, Natasa; Bogdanovic, Radovan; Kehinde, Elijah O; Lifton, Richard P; Tasic, Velibor; Lu, Weining; Hildebrandt, Friedhelm

    2015-08-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40-50% of chronic kidney disease that manifests in the first two decades of life. Thus far, 31 monogenic causes of isolated CAKUT have been described, explaining ~12% of cases. To identify additional CAKUT-causing genes, we performed whole-exome sequencing followed by a genetic burden analysis in 26 genetically unsolved families with CAKUT. We identified two heterozygous mutations in SRGAP1 in 2 unrelated families. SRGAP1 is a small GTPase-activating protein in the SLIT2-ROBO2 signaling pathway, which is essential for development of the metanephric kidney. We then examined the pathway-derived candidate gene SLIT2 for mutations in cohort of 749 individuals with CAKUT and we identified 3 unrelated individuals with heterozygous mutations. The clinical phenotypes of individuals with mutations in SLIT2 or SRGAP1 were cystic dysplastic kidneys, unilateral renal agenesis, and duplicated collecting system. We show that SRGAP1 is expressed in early mouse nephrogenic mesenchyme and that it is coexpressed with ROBO2 in SIX2-positive nephron progenitor cells of the cap mesenchyme in developing rat kidney. We demonstrate that the newly identified mutations in SRGAP1 lead to an augmented inhibition of RAC1 in cultured human embryonic kidney cells and that the SLIT2 mutations compromise the ability of the SLIT2 ligand to inhibit cell migration. Thus, we report on two novel candidate genes for causing monogenic isolated CAKUT in humans. PMID:26026792

  6. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

    PubMed

    Jehee, Fernanda Sarquis; Takamori, Jean Tetsuo; Medeiros, Paula F Vasconcelos; Pordeus, Ana Carolina B; Latini, Flavia Roche M; Bertola, Débora Romeo; Kim, Chong Ae; Passos-Bueno, Maria Rita

    2011-01-01

    Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice diagnostic test for this group of patients, but it is very costly for large-scale use in developing countries. We evaluated the use of a combination of Multiplex Ligation-dependent Probe Amplification (MLPA) kits to increase the detection rate of chromosomal abnormalities in MCA/MR patients. We screened 261 MCA/MR patients with two subtelomeric and one microdeletion kits. This would theoretically detect up to 70% of all submicroscopic abnormalities. Additionally we scored the de Vries score for 209 patients in an effort to find a suitable cut-off for MLPA screening. Our results reveal that chromosomal abnormalities were present in 87 (33.3%) patients, but only 57 (21.8%) were considered causative. Karyotyping detected 15 abnormalities (6.9%), while MLPA identified 54 (20.7%). Our combined MLPA screening raised the total detection number of pathogenic imbalances more than three times when compared to conventional karyotyping. We also show that using the de Vries score as a cut-off for this screening would only be suitable under financial restrictions. A decision analytic model was constructed with three possible strategies: karyotype, karyotype + MLPA and karyotype + WGAS. Karyotype + MLPA strategy detected anomalies in 19.8% of cases which account for 76.45% of the expected yield for karyotype + WGAS. Incremental Cost Effectiveness Ratio (ICER) of MLPA is three times lower than that of WGAS, which means that, for the same costs, we have three additional diagnoses with MLPA but only one with WGAS. We list all causative alterations found, including rare findings, such as reciprocal duplications of regions deleted in Sotos and Williams-Beuren syndromes. We also describe imbalances that were considered polymorphisms or rare variants, such as the new SNP

  7. Pregnancy exposure to olanzapine, quetiapine, risperidone, aripiprazole and risk of congenital malformations. A systematic review.

    PubMed

    Ennis, Zandra Nymand; Damkier, Per

    2015-04-01

    To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first-trimester exposure and pregnancy outcome with respect to congenital malformations. Cumulated data for olanzapine were 1090 first-trimester-exposed pregnancies with 38 malformations resulting in a malformation rate of 3.5%. The corresponding numbers for quetiapine, risperidone and aripiprazole were 443/16 (3.6%), 432/22 (5.1%) and 100/5 (5.0%), respectively. Relative risk estimates and 95% confidence intervals were 1.0 (0.7-1.4) (olanzapine), 1.0 (0.6-1.7) (quetiapine), 1.5 (0.9-2.2) (risperidone) and 1.4 (0.5-3.1) (aripiprazole). First-trimester exposure to olanzapine is not associated with an increased risk of congenital malformation. Data for quetiapine and risperidone do not suggest a substantially increased risk, while the risk estimate for aripiprazole remains imprecise owing to a low amount of data. PMID:25536446

  8. Vertebral artery anomalies at the craniovertebral junction: a case report and review of the literature.

    PubMed

    Abtahi, Amir M; Brodke, Darrel S; Lawrence, Brandon D

    2014-10-01

    Study Design Case report. Objective The objective of this study was to report a case of an unstable C1 burst fracture in the setting of a vertebral artery anomaly at the craniovertebral junction. Methods A 55-year-old man was admitted to the hospital with severe neck pain after falling approximately 15 feet and landing on his head. Computed tomography scan of the cervical spine revealed an unstable fracture of the C1 ring with magnetic resonance imaging evidence of a transverse ligament rupture as well as a congenital synchondrosis of the posterior arch of C1. He was neurologically intact. CT angiography (CTA) of the neck revealed an anomalous course of the right vertebral artery at the C1-C2 level. Results Surgical intervention consisted of occiput-C3 fusion, thus avoiding the placement of C1 lateral mass screws and risking vertebral artery injury. Conclusion We present a case of an unstable C1 burst fracture with an anomalous course of the right vertebral artery demonstrated by CTA. The presence of vertebral artery anomalies at the craniovertebral junction may prevent safe placement of C1 lateral mass screws and therefore influence the treatment options for upper cervical spine pathologies. To minimize the risk of vertebral artery injury, we elected to perform an occiput to C3 fusion. Thorough assessment of the vascular anatomy is recommended before operative intervention in the upper cervical spine to minimize the risk of complications. PMID:25364325

  9. Prenatal pharmacotherapy for fetal anomalies: a 2011 update.

    PubMed

    Hui, Lisa; Bianchi, Diana W

    2011-07-01

    Fetal therapy can be defined as any prenatal treatment administered to the mother with the primary indication to improve perinatal or long-term outcomes for the fetus or newborn. This review provides an update of the pharmacological therapies that are solely directed at the fetus with anomalies and outlines a future transcriptomic approach. Fetal anomalies targeted with prenatal pharmacotherapy are a heterogeneous group of structural, endocrine, and metabolic conditions, including congenital cystic adenomatoid malformation (CCAM), congenital adrenal hyperplasia, congenital heart block, fetal tachyarrhythmias, inborn errors of metabolism, fetal thyroid disorders, and polyhydramnios. To date, the majority of pharmacotherapies for fetal anomalies have been evaluated only in retrospective, uncontrolled studies. The way forward will be with an evidence-based approach to prenatal pharmacological interventions. PMID:21638296

  10. Canine congenital portosystemic shunts: Disconnections dissected.

    PubMed

    Van den Bossche, L; van Steenbeek, F G

    2016-05-01

    Canine congenital portosystemic shunts (CPSS) are vascular anomalies that connect the portal vein with the systemic circulation, therefore bypassing the hepatic parenchyma. Portosystemic shunts exist in two different subtypes: extrahepatic and intrahepatic. This congenital disorder is also described in mice, cat, sheep and man. Research has been focused on pathophysiology, diagnostics and treatment of CPSS and this has resulted in increased knowledge, although the aetiology of the disease remains unclear. This review focuses on the aetiology and genetic basis of both intra- and extrahepatic shunts. PMID:27061656

  11. The Right Heart in Congenital Heart Disease, Mechanisms and Recent Advances

    PubMed Central

    Guihaire, Julien; Haddad, François; Mercier, Olaf; Murphy, Daniel J.; Wu, Joseph C.; Fadel, Elie

    2012-01-01

    In patients with congenital heart disease, the right heart may support the pulmonary or the systemic circulation. Several congenital heart diseases primarily affect the right heart including Tetralogy of Fallot, transposition of great arteries, septal defects leading to pulmonary vascular disease, Ebstein anomaly and arrhythmogenic right ventricular cardiomyopathy. In these patients, right ventricular dysfunction leads to considerable morbidity and mortality. In this paper, our objective is to review the mechanisms and management of right heart failure associated with congenital heart disease. We will outline pearls and pitfalls in the management of congenital heart disease affecting the right heart and highlight recent advances in the field. PMID:23483726

  12. A review of the guidelines for the evaluation and treatment of congenital syphilis.

    PubMed

    Kwak, Jieun; Lamprecht, Catherine

    2015-05-01

    Congenital syphilis (CS) is a disease that continues to persist in the United States despite its preventable nature. Mother-to-child transmission of CS can be avoided with appropriate maternal diagnosis and treatment during the pregnancy. Diagnosing CS and determining the therapeutic course can be challenging. This review covers the recent guidelines for the diagnosis and treatment of CS and the various factors that affect management decisions. These factors include the mother's antenatal management, the infant's clinical presentation and results, laboratory and serologic testing, and more. PMID:25996197

  13. Congenital anterior urethrocutaneous fistula at the penoscrotal junction with proximal penile megalourethra: A case report

    PubMed Central

    Cheng, Shih-Yao; Chen, Shyh-Jye; Lai, Hong-Shiee

    2016-01-01

    Congenital anterior urethrocutaneous fistula and megalourethra are both rare anomalies. These anomalies are commonly associated with other anorectal or genitourinary anomalies and evaluated with voiding cystourethrography. We examined a 34-month-old boy who presented with a fistula at the penoscrotal junction. A voiding cystourethrogram showed a jet of urine coming through the fistula and proximal saccular dilatation of the penile urethra. We present the imaging findings of the first case of an association between a congenital anterior urethrocutaneous fistula at the penoscrotal junction and a proximal penile megalourethra. We also discuss the etiology, management, and differential diagnosis of this entity, and review the literature. PMID:27200160

  14. Congenital malaria in a neonate: case report with a comprehensive review on differential diagnosis, treatment and prevention in Indian perspective.

    PubMed

    Rai, Preeti; Majumdar, Kaushik; Sharma, Sunita; Chauhan, Richa; Chandra, Jagdish

    2015-06-01

    Although malaria in pregnancy, lactation and congenital malaria can be a disease burden in the endemic zones of Africa and Indian sub-continent, it is still epidemiologically less investigated in India. As it may lead to considerable maternal and perinatal morbidity and mortality, awareness and timely intervention is necessary for desirable outcome and prevention of the condition. Very few reports of congenital malaria are available in the literature from an endemic country like India. Herein we describe a case of congenital malaria from north India in a 21-day neonate. Clinical presentation of this condition in the neonate may offer a considerable diagnostic challenge, and differentiation from vector borne malaria in infants may be important from the management point of view. Hence a review of the differential diagnosis, management and prevention of congenital malaria has been attempted in the Indian perspective. PMID:26064034

  15. Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

    PubMed Central

    Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio

    2016-01-01

    ABSTRACT Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. Materials and Methods: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Results: Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Discussion: Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach. PMID:27564292

  16. 46,XY Disorders of Sex Development and Congenital Diaphragmatic Hernia: A Case with Dysmorphic Facies, Truncus Arteriosus, Bifid Thymus, Gut Malrotation, Rhizomelia, and Adactyly

    PubMed Central

    Esplin, Edward D.; Chaib, Hassan; Haney, Michael; Martin, Brock; Homeyer, Margaret; Urban, Alexander E.; Bernstein, Jonathan A.

    2016-01-01

    The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases. PMID:25898814

  17. A review of problems and progress in studies of satellite magnetic anomalies

    NASA Technical Reports Server (NTRS)

    Mayhew, M. A.; Johnson, B. D.; Wasilewski, P. J.

    1985-01-01

    A review is conducted of studies performed during the Magsat project. The obtained data are considered, taking into account questions of data availability, aspects of orbit attitude determination, ionospheric noise, a field model, and an anomaly field presentation. Models for interpretation are discussed, giving attention to forward modeling, and equivalent layer inverse modeling. In an evaluation of rock property constraints, the magnetic bottom is discussed along with Curie points, metamorphism and magnetization, and the direction of magnetization.

  18. Genetic Syndromes associated with Congenital Heart Disease

    PubMed Central

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease. PMID:26413101

  19. Congenital cystic lesions of lung in the paediatric population: A 5-year single institutional study with review of literature

    PubMed Central

    Barman, Shibsankar; Mandal, Kartik Chandra; Kumar, Rajarshi; Biswas, Sumitra Kumar; Mukhopadhyay, Madhumita; Mukhopadhyay, Biswanath

    2015-01-01

    Background: The aim was to evaluate the clinical presentation, investigation modalities, operative management, pathology, outcome (morbidity and mortality) and short term follow-up of congenital cystic lesions of the lung. Materials and Methods: This is a retrospective study. Study period was 5 years (December 2008-November 2013) in the Department of paediatric surgery, Nil Ratan Sircar Medical College. Study population: Total number = 10 patients. Age range: 2 days-7 years. (Neonate-4). Male and female ratio = 1:1. Result: Among 10 cases of lung cyst four having congenital lobar emphysema, four having congenital pulmonary airway malformation, one sequestration and one teratoma. All patients have undergone surgical excision in terms of lobectomy or excision of the lesion. Post-operative histopathology confirmed the diagnosis. Recovery was uneventful. Conclusion: Although our experience is limited, operative management of lung cysts seems to be safe with rewarding results. However we are yet to encounter many of the other varieties of the cysts found in the lung, which may be associated with other congenital anomalies and have an impact on prognosis. PMID:25659554

  20. Proatlas segmentation anomalies: Surgical management of five cases and review of the literature

    PubMed Central

    Muthukumar, Natarajan

    2016-01-01

    Objective: Proatlas segementation anomalies are due to defective re-segmentation of the proatlas sclerotome. These anomalies of the craniovertebral junction are rare and have multiple presentations. The aim of this study is to report this author's personal experience in managing five of these patients with different radiological findings necessitating different surgical strategies and to provide a brief review of the relevant literature. Materials and Methods: Five patients, all in the second decade of life were treated between 2010 and 2013. There were three males and two females. All the patients presented with spastic quadriparesis and/or cerebellar signs. Patients underwent plain radiographs, MRI and CT of the craniovertebral junction. CT of the cranioveretebral junction was the key to the diagnosis of this anomaly. Postoperatively, patients were assessed with plain radiographs and CT in all patients and MRI in one. Results: Two patients underwent craniovertebral realignment with occipitocervical fixation, two patients underwent C1-C2 fixation using Goel-Harms technique and one patient underwent craniovertebral realignment with C1-C2 fixation using spacers in the atlanatoaxial joint and foramen magnum decompression. All patients improved during follow up. Conclusions: Proatlas segmentation defects are rare anomalies of the craniovertebral junction. Routine use of thin section CT of the craniovertebral junction and an awareness of this entity and its multivarious presentations are necessary for clinicians dealing with abnormalities of the craniovertebral junction. PMID:27195027

  1. Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract

    PubMed Central

    Ramanathan, Subramaniyan; Kumar, Devendra; Khanna, Maneesh; Al Heidous, Mahmoud; Sheikh, Adnan; Virmani, Vivek; Palaniappan, Yegu

    2016-01-01

    Congenital abnormalities of the kidney and urinary tract (CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis (bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number (agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography (US) is typically the first imaging performed as it is easily available, non-invasive and radiation free used both antenatally and postnatally. Computed tomography (CT) and magnetic resonance imaging (MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management. PMID:26981222

  2. Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract.

    PubMed

    Ramanathan, Subramaniyan; Kumar, Devendra; Khanna, Maneesh; Al Heidous, Mahmoud; Sheikh, Adnan; Virmani, Vivek; Palaniappan, Yegu

    2016-02-28

    Congenital abnormalities of the kidney and urinary tract (CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis (bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number (agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography (US) is typically the first imaging performed as it is easily available, non-invasive and radiation free used both antenatally and postnatally. Computed tomography (CT) and magnetic resonance imaging (MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management. PMID:26981222

  3. Vertical transmission and fetal damage in animal models of congenital toxoplasmosis: A systematic review.

    PubMed

    Vargas-Villavicencio, José Antonio; Besné-Mérida, Alejandro; Correa, Dolores

    2016-06-15

    In humans, the probability of congenital infection and fetal damage due to Toxoplasma gondii is dependent on the gestation period at which primary infection occurs. Many animal models have been used for vaccine, drug testing, or studies on host or parasite factors that affect transmission or fetal pathology, but few works have directly tested fetal infection and damage rates along gestation. So, the purpose of this work was to perform a systematic review of the literature to determine if there is a model which reflects these changes as they occur in humans. We looked for papers appearing between 1970 and 2014 in major databases like Medline and Scopus, as well as gray literature. From almost 11,000 citations obtained, only 49 papers fulfilled the criteria of having data of all independent variables and at least one dependent datum for control (untreated) groups. Some interesting findings could be extracted. For example, pigs seem resistant and sheep susceptible to congenital infection. Also, oocysts cause more congenitally infected offspring than tissue cysts, bradyzoites or tachyzoites. In spite of these interesting findings, very few results on vertical transmission or fetal damage rates were similar to those described for humans and only for one of the gestation thirds, not all. Moreover, in most designs tissue cysts - with unknown number of bradyzoites - were used, so actual dose could not be established. The meta-analysis could not be performed, mainly because of great heterogeneity in experimental conditions. Nevertheless, results gathered suggest that a model could be designed to represent the increase in vertical transmission and decrease in fetal damage found in humans under natural conditions. PMID:27198800

  4. Is Toxoplasma gondii type related to clinical outcome in human congenital infection? Systematic and critical review.

    PubMed

    Rico-Torres, C P; Vargas-Villavicencio, J A; Correa, D

    2016-07-01

    In human congenital toxoplasmosis the effects of parasite burden and pregnancy time at infection on clinical outcome are well known, but there is controversy regarding the role of Toxoplasma gondii type. Through a systematic review of the literature, we aimed to discern if T. gondii type has a role on clinical outcome in human congenital toxoplasmosis. We built up a database of congenital toxoplasmosis from reports of cases, case series and screening-based cohorts, which had information about parasite type, gestation time at maternal infection and/or clinical outcome in the product. Then, we obtained frequencies for loci used to genotype geographical origin of cases and types found. Also, odds ratios were calculated for association between time of maternal infection or parasite type on outcome. Type II parasites were the most common in Europe, Asia and Africa, while in America there were mainly atypical strains. More newborns with clinical problems were born from mothers infected during the first half of gestation than from those acquiring the parasite after week 24, regardless of parasite genotype (92.9 vs. 16.1 %, OR = 67.9, CI95 25.4-181.6). Type I and atypical parasites were associated with clinical problems as opposed to types II and III, regardless of pregnancy period at infection (86.9 vs. 72.9 %, OR = 2.47, CI95 1.1-5.4). A significant and remarkable tendency of type I parasites to be present during early pregnancy was also observed (94.4 vs. 5.6 %, P < 0.009). In addition to parasite burden and period of gestation, T. gondii genotype seems involved in CT clinical outcome. PMID:27146878

  5. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    PubMed

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes. PMID:25979782

  6. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening

    PubMed Central

    Olney, Richard S.; Ailes, Elizabeth C.; Sontag, Marci K.

    2015-01-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes. PMID:25979782

  7. Unilateral Congenital Lacrimal Fistula with Renal Agenesis and Pelvic Kidney: A Case Report and Review of the Literature

    PubMed Central

    Altun, A.; Kurna, S. A.; Sengor, T.; Altun, G.; Oflaz, A.; Sonmez, H. S.

    2015-01-01

    A 12-year-old boy presented to the clinic of ophthalmology because of watering and discharge from his left lower eyelid. The inspection examination revealed an orifice that was associated with congenital lacrimal fistula (CLF). He underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings. Systemic evaluation revealed multiple renal anomalies: right renal agenesis and left ectopic pelvic kidney. This case is unique because this is the first reported case of CLF accompanied with ectopic pelvic kidney in the literature. PMID:26090250

  8. The experience of mutation rate quantitative evaluation in connection with environmental pollution (based on studies of congenital anomalies in human populations).

    PubMed

    Antipenko YeN; Kogut, N N

    1993-10-01

    For 3 years genetic monitoring of congenital anomalies (CA) has been carried out in three Ukrainian towns essentially different in the level of air pollution: the most polluted, Mariupol (M.); medium polluted, Zaporozhye (Z.); and relatively clean, Simpheropol (S.). In this work we present the results of this study. Eighteen CAs being used in the International Clearinghouse program were registered during the first year of life. For each case of CA an individual questionnaire was filled in. It included practically all known causes of malformations. Similar questionnaires were filled in for cases of normal birth outcome. The estimation of newborns of control groups was made according to a score of 9-10 on the Apgar scale. The questionnaires were completed by physicians in all maternity hospitals and children's clinics and based on the information obtained from mothers. Multiple malformations, dominant and X-linked CA in M. were 2.6-3.1 times more frequent than in S. The frequency of new mutations was 0.45-0.95 and 0.17-0.47 per 10(3) births respectively. No differences in multifactorial and recessive CA were noted. The mathematical method (so-called statusmetrical analysis) was used to indirectly determine the part of CAs of unknown etiology (probably of mutation origin) in the total number of CAs. Their quota in Z. and M. was 1.2-1.5 times more than in S. The advantage of statusmetrical analysis lies in the absence of any restrictions connected with a large number of parameters which describe the object's status. It makes it possible to analyze tens, even hundreds of factors (along with the increased number of parameters the reliability of the conclusions increases) and range them in accordance with their validity. Genetic consequences of chemical pollution were estimated in biological equivalents Röntgen (BER). In M. they were equal to the effect of irradiation at doses of 180-300 BER (230 BER, central estimate) over 30 years. In the polluted towns (M. and Z.) the

  9. First Trimester Exposure to Anxiolytic and Hypnotic Drugs and the Risks of Major Congenital Anomalies: A United Kingdom Population-Based Cohort Study

    PubMed Central

    Ban, Lu; West, Joe; Gibson, Jack E.; Fiaschi, Linda; Sokal, Rachel; Doyle, Pat; Hubbard, Richard; Smeeth, Liam; Tata, Laila J.

    2014-01-01

    Background Despite their widespread use the effects of taking benzodiazepines and non-benzodiazepine hypnotics during pregnancy on the risk of major congenital anomaly (MCA) are uncertain. The objectives were to estimate absolute and relative risks of MCAs in children exposed to specific anxiolytic and hypnotic drugs taken in the first trimester of pregnancy, compared with children of mothers with depression and/or anxiety but not treated with medication and children of mothers without diagnosed mental illness during pregnancy. Methods We identified singleton children born to women aged 15–45 years between 1990 and 2010 from a large United Kingdom primary care database. We calculated absolute risks of MCAs for children with first trimester exposures of different anxiolytic and hypnotic drugs and used logistic regression with a generalised estimating equation to compare risks adjusted for year of childbirth, maternal age, smoking, body mass index, and socioeconomic status. Results Overall MCA prevalence was 2.7% in 1,159 children of mothers prescribed diazepam, 2.9% in 379 children with temazepam, 2.5% in 406 children with zopiclone, and 2.7% in 19,193 children whose mothers had diagnosed depression and/or anxiety but no first trimester drug exposures. When compared with 2.7% in 351,785 children with no diagnosed depression/anxiety nor medication use, the adjusted odds ratios were 1.02 (99% confidence interval 0.63–1.64) for diazepam, 1.07 (0.49–2.37) for temazepam, 0.96 (0.42–2.20) for zopiclone and 1.27 (0.43–3.75) for other anxiolytic/hypnotic drugs and 1.01 (0.90–1.14) for un-medicated depression/anxiety. Risks of system-specific MCAs were generally similar in children exposed and not exposed to such medications. Conclusions We found no evidence for an increase in MCAs in children exposed to benzodiazepines and non-benzodiazepine hypnotics in the first trimester of pregnancy. These findings suggest that prescription of these drugs during early

  10. Congenital urethrocutaneous fistula in an adolescent male

    PubMed Central

    Kale, Satish M.; Mody, Nikunj B.; Patil, Surendra B.; Sadawarte, Pranam

    2015-01-01

    A urethrocutaneous fistula is a common complication after hypospadias repair, but congenital fistula is a rare anomaly. We present a 16-year-old boy with this unusual anomaly. Its etiology, embryology, and management are discussed in brief. PMID:26424989