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Sample records for additional congenital anomalies

  1. 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

  2. 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

  3. 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

  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. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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.

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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.

  11. 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

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

    PubMed Central

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

    1989-01-01

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

  13. Congenital anomalies 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. 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…

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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.

  9. 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

  10. 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

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

    PubMed

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

    2016-05-01

    Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we included 1286 foetuses of mothers using short-acting insulin analogues with 1089 references of mothers using human insulin and 768 foetuses of mothers using long-acting insulin analogues with 685 references of mothers using long-acting human insulin (Neutral Protamine Hagedorn). The congenital anomaly rate was 4.84% and 4.29% among the foetuses of mothers using lispro and aspart. For glargine and detemir, the congenital anomaly rate was 2.86% and 3.47%, respectively. No studies on the use of insulin glulisine and degludec in pregnancy were found. There was no statistically significant difference in the congenital anomaly rate among foetuses exposed to insulin analogues (lispro, aspart, glargine or detemir) compared with those exposed to human insulin or Neutral Protamine Hagedorn insulin. The total prevalence of congenital anomalies was not increased for foetuses exposed to insulin analogues. The small samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd. PMID:26431249

  12. 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

  13. 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

  14. 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

  15. 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.

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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 ...

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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.

  16. 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

  17. 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

  18. 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.

  19. 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

  20. 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

  1. 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,…

  2. Anomaly Detection In Additively Manufactured Parts Using Laser Doppler Vibrometery

    SciTech Connect

    Hernandez, Carlos A.

    2015-09-29

    Additively manufactured parts are susceptible to non-uniform structure caused by the unique manufacturing process. This can lead to structural weakness or catastrophic failure. Using laser Doppler vibrometry and frequency response analysis, non-contact detection of anomalies in additively manufactured parts may be possible. Preliminary tests show promise for small scale detection, but more future work is necessary.

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

    PubMed

    Al-Kateb, Hussam; Khanna, Geetika; Filges, Isabel; Hauser, Natalie; Grange, Dorothy K; Shen, Joseph; Smyser, Christopher D; Kulkarni, Shashikant; Shinawi, Marwan

    2014-05-01

    The typical chromosome 16p11.2 rearrangements are estimated to occur at a frequency of approximately 0.6% of all samples tested clinically and have been identified as a major cause of autism spectrum disorders, developmental delay, behavioral abnormalities, and seizures. Careful examination of patients with these rearrangements revealed association with abnormal head size, obesity, dysmorphism, and congenital abnormalities. In this report, we extend this list of phenotypic abnormalities to include scoliosis and vertebral anomalies. We present detailed characterization of phenotypic and radiological data of 10 new patients, nine with the 16p11.2 deletion and one with the duplication within the coordinates chr16:29,366,195 and 30,306,956 (hg19) with a minimal size of 555 kb. We discuss the phenotypical and radiological findings in our patients and review 5 previously reported patients with 16p11.2 rearrangement and similar skeletal abnormalities. Our data suggest that patients with the recurrent 16p11.2 rearrangement have increased incidence of scoliosis and vertebral anomalies. However, additional studies are required to confirm this observation and to establish the incidence of these anomalies. We discuss the potential implications of our findings on the diagnosis, surveillance and genetic counseling of patients with 16p11.2 rearrangement. PMID:24458548

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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…

  20. 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…

  1. 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

  2. [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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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.

  14. 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

  15. 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

  16. 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

  17. 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

  18. [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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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.

  12. 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

  13. 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

  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. 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

  17. 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

  18. 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.

  19. 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

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

    ERIC Educational Resources Information Center

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

    2014-01-01

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

  1. 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

  2. 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

  3. 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

  4. [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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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.

  17. 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

  18. 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

  19. Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

    PubMed

    Spreiz, A; Haberlandt, E; Baumann, M; Baumgartner Sigl, S; Fauth, C; Gautsch, K; Karall, D; Janetschek, C; Rostasy, K; Scholl-Bürgi, S; Zotter, S; Utermann, G; Zschocke, J; Kotzot, D

    2014-10-01

    Epilepsy is a common finding in patients with chromosomal macro- and micro-rearrangements but only few aberrations show a constant pattern of seizures. DNA array-based studies have reported causative copy number variations (CNVs) in 5-30% of patients with epilepsy with or without co-morbidities. The interpretation of many of the detected CNVs remains challenging. In order to identify CNVs carrying epilepsy-related genes we investigated 43 children with various patterns of epileptic seizures, intellectual disability (ID), and minor dysmorphism, using the Illumina® Infinium Human1M-DuoV1 array. In three patients we found likely causative de novo CNVs, i.e. deletions in 1q41q42.12 (3.4 Mb) and 19p13.2 (834 kb), and a mosaic two-segment duplication in 17p13.2 (218 kb) and 17p13.1 (422 kb). In six additional patients there were aberrations (a deletion in one and duplications in five patients) with uncertain clinical consequences. In total, the finding of causative chromosomal micro-rearrangements in 3 out of 43 patients (7%) and potentially causative CNVs in 6 additional patients (14%) with epilepsy and ID but without major malformations confirms the power of DNA arrays for the detection of new disease-related genetic regions. PMID:24116836

  20. Branchio-oto-renal syndrome plus; a contiguous gene constellation of congenital anomalies?

    SciTech Connect

    Kelly, T.E.

    1994-09-01

    A term female infant was referred to the University Hospital because of respiratory distress secondary to bilateral choanal stenosis. Her examination revealed bilateral pre-auricular pits, branchial fistulae, cupped shaped ears, and bilateral athelia. She failed ABR screening; her creatinine was elevated to 1.5 mgs% and renal ultra-sonography showed reduced kidney size bilaterally. She was the product of her mother`s third pregnancy. The first produced a now normal 5 year old son. The second pregnancy was complicated by oligohydramnios and resulted in a premature delivery at 27 weeks gestation. The infant expired secondary to pulmonary hypoplasia. The mother had bilateral neurosensory deafness, pre-auricular pits, cupped shaped ears, lacrimal stenois and bilateral athelia. She wore dentures having earlier been diagnosed with dentogeneis imperfecta. She was shorter than her three normal sisters and had experienced academic problems throughout her school years. The maternal grandfather had an adult onset neurosensory hearing loss, but he and the maternal grandmother exhibited no other features of the BOR syndrome. Althelia was present only in the mother and daughter. The mother clearly has BOR syndrome transmitted to one, and possibly two, of her three offspring. The additional features of athelia, choanal stenosis and dentogenesis imperfecta are thought to represent additional autosomal dominant traits. Greenberg described an infant with athelia and choanal atresia. By family linkage studies, the BOR syndrome has been mapped to 8q13-21 with no recombination observed with loci D8S530 and D8S279. Given a normal prophase karyotype in the proband, it is speculated that a sub-microscopic deletion at 8q13-21 is the likely basis for the constellation of birth defects seen in this mother and daughter. Analysis of D8S530 and D8S279 is currently underway in this family.

  1. “This bicycle gives me a headache”, a congenital anomaly

    PubMed Central

    2013-01-01

    Backround The combination of a presacral mass, a sacral bone deformity, and an anorectal malformation are also known as the Currarino triad or Currarino syndrome. The syndrome is associated with a very high rate of severe and intractable constipation and urinary incontinence. However, it can also result in less common complaints and symptoms. Although the syndrome is known since 1981 and the involved genes are clarified to a great extent, the diagnosis may be delayed or missed if unrecognized. Case presentation A 24-year old female presented with periodical headaches. She was born with an imperforate anus, absent rectum and colon, double bladder, and sacral defect. Soon after birth she underwent several surgical procedures for anorectal and bladder reconstructions. The patient now came to her pediatric urologist for urinary incontinence and mentioned severe headaches on the side, particularly when riding a bike. Finally, she solved her headache problem by stopping to ride her bicycle. On physical examination no abnormalities were found except the ileostomy that was present ever since soon after birth and her urinary incontinence. Blood tests showed no abnormalities. Additional MRI showed a large and previously not known anterior meningocele at the level of the sacrum. Surgical treatment consisted of closure of the dura by posterior approach. Conclusion In this case report we describe the late discovery with an atypical presentation of an anterior meningocele in a young adult with urinary incontinence, a sacral defect, an anorectal malformation and headaches during bicycle riding. After surgical treatment of our patient the meningocele regressed. Three months after successful surgery she had no complaints and was able to ride a bike again. PMID:24124700

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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.

  4. Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report.

    PubMed

    Meena, Jagdish P; Gupta, Ajay; Mishra, Devendra; Juneja, Monica

    2015-05-01

    Beals syndrome is an autosomal-dominant connective tissue disorder, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, crumpled ear, and muscular hypoplasia. It has similarities to Marfan syndrome (MFS) in many respects. It has much fewer incidences of eye and heart anomalies compared with MFS. Beals syndrome is caused by a mutation in the fibrillin-2 gene (FBN2) in 5q23; MFS is caused by mutations in fibrillin-1. With time, there is spontaneous improvement in joint contractures, but kyphosis tends to be progressive. The neonatal form results from new mutations and tends to be severe. Prenatal molecular diagnosis is possible. Ultrasound could be used to demonstrate hypokinesia and joint contractures in presumptive cases. We present a case of a patient with Beals syndrome who presented to the emergency department with pneumonia and was found to have narrowing of the foramen magnum, with partial fusion of C2-C3 vertebral bodies. To our knowledge, this has not been documented in the literature and could be characteristic in relation to Beals syndrome. PMID:25493702

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. Sources of lunar magnetic anomalies and their bulk directions of magnetization - Additional evidence from Apollo orbital data

    NASA Technical Reports Server (NTRS)

    Hood, L. L.

    1982-01-01

    A relatively high-amplitude magnetic anomaly directly detected with the Apollo 15 subsatellite magnetometer and centered near the crater Gerasimovich on the southeastern lunar far side is found to correlate with the location of a conspicuous Reiner Gamma-type swirl marking visible on a Zond 8 photograph. Examinations of available direct and indirect orbital magnetics measurements demonstrate that most strong anomalies occur in areas where morphologically similar markings are concentrated. Even though photogeologic studies indicate an impact-related origin for the swirls, both the swirls and their associated strong anomalies tend to exist preferentially in or near areas that have been seismically modified. Modeling of improved vector magnetic anomaly maps is used to infer 28 independent bulk directions of magnetization for relatively strong and isolated lunar magnetic anomaly sources.

  11. 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

  12. 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

  13. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  14. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Registry: Leber congenital amaurosis 9 National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus ... Additional NIH Resources (1 link) National Eye Institute: Gene Therapy for Leber Congenital Amaurosis Educational Resources (3 links) ...

  15. Congenital Hypothyroidism

    MedlinePlus

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  16. 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.L.

    1995-01-02

    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. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient`s phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion. 9 refs., 2 figs.

  17. Analysis of Renal Anomalies in VACTERL Association

    PubMed Central

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

    2014-01-01

    VACTERL association refers to a combination of congenital anomalies that can include: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula with esophageal atresia, Renal anomalies (typically structural renal anomalies), and Limb anomalies. We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least 3 component features of VACTERL and who had abdominal ultrasound performed) met criteria for analysis. Four other patients were additionally analyzed separately, with the hypothesis that subtle renal system anomalies may occur in patients who would not otherwise meet criteria for VACTERL association. Thirty-three (69%) of the 48 patients had a clinical manifestation affecting the renal system. The most common renal manifestation (RM) was vesicoureteral reflux (VUR) in addition to a structural defect (present in 27%), followed by unilateral renal agenesis (24%), and then dysplastic/multicystic kidneys or duplicated collected system (18% for each). Twenty-two (88%) of the 25 patients with a structural RM had an associated anorectal malformation. Individuals with either isolated lower anatomic anomalies, or both upper and lower anatomic anomalies were not statistically more likely to have a structural renal defect than those with isolated upper anatomic anomalies (p=0.22, p=0.284 respectively). Given the high prevalence of isolated VUR in our cohort, we recommend a screening VCUG or other imaging modality be obtained to evaluate for VUR if initial renal US shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health. PMID:25196458

  18. 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

  19. A systematic approach to the magnetic resonance imaging-based differential diagnosis of congenital Müllerian duct anomalies and their mimics.

    PubMed

    Yoo, Roh-Eul; Cho, Jeong Yeon; Kim, Sang Youn; Kim, Seung Hyup

    2015-01-01

    Müllerian duct anomalies (MDAs) represent a wide spectrum of developmental abnormalities related to various gynecologic and obstetric complications, including primary amenorrhea, infertility, and endometriosis. The use of diverse imaging modalities, in conjunction with clinical information, provide important clues to the diagnosis of MDAs. Diagnostic imaging work-up for MDAs often begins with hysterosalpingography (HSG) and/or ultrasonography (US). Although HSG and/or US may suffice to detect the presence of a uterine abnormality, magnetic resonance (MR) imaging is generally needed to classify the abnormality into a specific MDA category. MR imaging has been gaining in popularity for use in evaluating MDAs, by virtue of its noninvasiveness, lack of ionizing radiation, and capability for multiplanar imaging and soft tissue characterization. Abnormalities in the external uterine fundal contour are readily recognized with MR imaging, allowing for clear differentiation between a fusion anomaly, such as a uterus didelphys or a bicornuate uterus, and a resorption anomaly, such as a septate uterus. Furthermore, MR imaging enables clear depiction of a rudimentary uterine horn in a unicornuate uterus. Accurate differential diagnosis of MDAs on the basis of their characteristic MR imaging findings is crucial, because the rates of gynecologic and obstetric complications vary considerably among MDAs. The diagnostic accuracy may be enhanced by adopting a systematic approach to MR imaging-based differential diagnosis. PMID:25070770

  20. Congenital midline nasofrontal masses.

    PubMed

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  1. Congenital scoliosis - Quo vadis?

    PubMed

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-04-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  2. Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies

    SciTech Connect

    Butler, M.G.; Roback, E.W.; Allen, G.A.

    1995-07-03

    We read with interest the report by Melnyk and Dewald of a small supernumerary ring chromosome 8 identified by fluorescence in situ hybridization (FISH) in a child with developmental delay and minor anomalies. Although ring chromosomes resulting in loss of parts of chromosome 8 have been reported, Melnyk and Dewald reported the first small ring chromosome 8 diagnosed by FISH. Previously nonsatellited markers derived from chromosomes 1, 3, 6, 9, 11, 13-16, 18, 20, 21, and X have been identified using FISH. Their study illustrated the value of FISH techniques in identifying the chromosomal source of markers or rings.

  3. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).

    PubMed

    Kosfeld, Anne; Kreuzer, Martin; Daniel, Christoph; Brand, Frank; Schäfer, Anne-Kathrin; Chadt, Alexandra; Weiss, Anna-Carina; Riehmer, Vera; Jeanpierre, Cécile; Klintschar, Michael; Bräsen, Jan Hinrich; Amann, Kerstin; Pape, Lars; Kispert, Andreas; Al-Hasani, Hadi; Haffner, Dieter; Weber, Ruthild G

    2016-01-01

    Congenital anomalies of the kidneys and urinary tract (CAKUT) are genetically highly heterogeneous leaving most cases unclear after mutational analysis of the around 30 causative genes known so far. Assuming that phenotypes frequently showing dominant inheritance, such as CAKUT, can be caused by de novo mutations, de novo analysis of whole-exome sequencing data was done on two patient-parent-trios to identify novel CAKUT genes. In one case, we detected a heterozygous de novo frameshift variant in TBC1D1 encoding a Rab-GTPase-activating protein regulating glucose transporter GLUT4 translocation. Sequence analysis of 100 further CAKUT cases yielded three novel or rare inherited heterozygous TBC1D1 missense variants predicted to be pathogenic. TBC1D1 mutations affected Ser237-phosphorylation or protein stability and thereby act as hypomorphs. Tbc1d1 showed widespread expression in the developing murine urogenital system. A mild CAKUT spectrum phenotype, including anomalies observed in patients carrying TBC1D1 mutations, was found in kidneys of some Tbc1d1 (-/-) mice. Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. TBC1D1 and SLC2A4 encoding GLUT4 were highly expressed in human fetal kidney. The patient with the truncating TBC1D1 mutation showed evidence for insulin resistance. These data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT pathogenesis, possibly via a role in glucose homeostasis. PMID:26572137

  4. A Constellation of Cardiac Anomalies: Beyond Shone's Complex.

    PubMed

    Ganju, Neeraj K; Kandoria, Arvind; Thakur, Suresh; Ganju, Sunite A

    2016-01-01

    Shone's anomaly is a very rare congenital cardiac malformation characterized by four serial obstructive lesions of the left side of the heart (i) Supravalvular mitral membrane (ii) parachute mitral valve (iii) muscular or membranous subaortic stenosis and (iv) coarctation of aorta. We report a unique presentation of Shone's complex in a 14-year-old adolescent male. In addition to the four characteristic lesions the patient had bicuspid aortic valve, aneurysm of sinus of valsalva, patent ductus arteriosus, ventricular septal defect, persistent left superior vena cava opening into coronary sinus and severe pulmonary artery hypertension. This case report highlights the importance of a strong clinical suspicion of the coexistence of multiple congenital cardiac anomalies in Shone's complex and the significance of a careful comprehensive echocardiography. PMID:27293526

  5. A Constellation of Cardiac Anomalies: Beyond Shone's Complex

    PubMed Central

    Ganju, Neeraj K.; Kandoria, Arvind; Thakur, Suresh; Ganju, Sunite A.

    2016-01-01

    Shone's anomaly is a very rare congenital cardiac malformation characterized by four serial obstructive lesions of the left side of the heart (i) Supravalvular mitral membrane (ii) parachute mitral valve (iii) muscular or membranous subaortic stenosis and (iv) coarctation of aorta. We report a unique presentation of Shone's complex in a 14-year-old adolescent male. In addition to the four characteristic lesions the patient had bicuspid aortic valve, aneurysm of sinus of valsalva, patent ductus arteriosus, ventricular septal defect, persistent left superior vena cava opening into coronary sinus and severe pulmonary artery hypertension. This case report highlights the importance of a strong clinical suspicion of the coexistence of multiple congenital cardiac anomalies in Shone's complex and the significance of a careful comprehensive echocardiography. PMID:27293526

  6. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  7. 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

  8. 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

  9. Two Cases of Malleostapedotomy in Congenital Oval Window Atresia

    PubMed Central

    Ahn, Sang Hyeon; Kim, Da Hee; Choi, Jae Young

    2013-01-01

    Congenital anomaly of the oval window with an abnormal facial nerve course is an uncommon embryological defect, which is related to the underdevelopment of second branchial arch derivatives. Some treatments for improving hearing levels are available; these include hearing aids, vestibulotomy, neo-oval window formation, and stapes surgeries, including incudostapedotomy and malleostapedotomy. However, surgery for congenital anomalies of the oval window has rarely been described, usually in very small series of patients. We describe two cases of congenital anomalies of the oval window with aberrant facial nerve courses. One was a 40-year-old male diagnosed with unilateral congenital oval window atresia; the other was a 10-year-old male diagnosed with bilateral congenital oval window atresia. We also describe the clinical manifestations and treatment outcomes of malleostapedotomy for congenital anomalies of the oval window with aberrant facial nerve courses. PMID:24653925

  10. Additives

    NASA Technical Reports Server (NTRS)

    Smalheer, C. V.

    1973-01-01

    The chemistry of lubricant additives is discussed to show what the additives are chemically and what functions they perform in the lubrication of various kinds of equipment. Current theories regarding the mode of action of lubricant additives are presented. The additive groups discussed include the following: (1) detergents and dispersants, (2) corrosion inhibitors, (3) antioxidants, (4) viscosity index improvers, (5) pour point depressants, and (6) antifouling agents.

  11. Analysis of spacecraft anomalies

    NASA Technical Reports Server (NTRS)

    Bloomquist, C. E.; Graham, W. C.

    1976-01-01

    The anomalies from 316 spacecraft covering the entire U.S. space program were analyzed to determine if there were any experimental or technological programs which could be implemented to remove the anomalies from future space activity. Thirty specific categories of anomalies were found to cover nearly 85 percent of all observed anomalies. Thirteen experiments were defined to deal with 17 of these categories; nine additional experiments were identified to deal with other classes of observed and anticipated anomalies. Preliminary analyses indicate that all 22 experimental programs are both technically feasible and economically viable.

  12. 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

  13. Additions to Magnetic Trackline Archive For Improvements to Earth Magnetic Anomaly Grid (EMAG2) and Improvements to Data Dissemination at NGDC

    NASA Astrophysics Data System (ADS)

    Meyer, B.; Jencks, J.; Barckhausen, U.; Ishihara, T.; Campagnoli, J.

    2014-12-01

    The National Geophysical Data Center (NGDC) is the primary archive of marine geophysical data worldwide. However, it has been challenging for scientist to discover and access data due to variable data formats, non-digital data holdings, and transitioning data discovery portals. In 2014, NGDC made a concerted effort to identify, ingest, and archive all publicly available magnetic trackline data for access via a new Trackline Geophysical Data web-based interface. Non-digital data were digitized and added to the Global Geophysical Database and are now available for download in a common MGD77 format. All ancillary and analog data are accessible via the same interface, without having to navigate through multiple directories or prompts. The result is over 16.5 million miles of magnetic trackline data are now available, both through NGDC's improved user interface and as a web service for incorporation into other portals. This allows the geoscience community unprecedented access to global geophysical magnetic trackline data from a secure long-term archive. The addition of 6.5 million miles of magnetic trackline data to the database, since the previous release of the Earth Magnetic Anomaly Grid (EMAG2), will give NGDC the ability to improve the model coverage, especially in areas of low coverage, such as around the Eltanin Fracture Zone in the South Pacific. This poster will focus on some key data additions and how they will help us validate the accuracy of the ocean age model/directional gridding algorithm and improve the Earth Magnetic Anomaly Grid going forward.

  14. Congenital limb deficiency disorders.

    PubMed

    Wilcox, William R; Coulter, Colleen P; Schmitz, Michael L

    2015-06-01

    Congenital limb deficiency disorders (LDDs) are birth defects characterized by the aplasia or hypoplasia of bones of the limbs. Limb deficiencies are classified as transverse, those due to intrauterine disruptions of previously normal limbs, or longitudinal, those that are isolated or associated with certain syndromes as well as chromosomal anomalies. Consultation with a medical geneticist is advisable. Long-term care should occur in a specialized limb deficiency center with expertise in orthopedics, prosthetics, and occupational and physical therapy and provide emotional support and contact with other families. With appropriate care, most children with LDDs can lead productive lives. PMID:26042905

  15. 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

  16. Congenital scoliosis – Quo vadis?

    PubMed Central

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-01-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  17. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin. PMID:27076244

  18. Congenital toxoplasmosis

    MedlinePlus

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  19. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  20. Congenital cataract

    MedlinePlus

    ... of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi-Hünermann syndrome Down syndrome (trisomy 21) Ectodermal ... Images Eye Cataract - close-up of the eye Rubella syndrome Cataract References Dahan E. Pediatric cataract surgery. ...

  1. Congenital syphilis

    MedlinePlus

    ... fact that this disease can be cured with antibiotics if caught early, rising rates of syphilis among pregnant women in the United States have increased the number of infants born with congenital syphilis.

  2. Congenital rubella

    MedlinePlus

    ... mother is infected with the virus that causes German measles. Congenital means the condition is present at ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier ...

  3. Congenital rubella

    MedlinePlus

    ... is infected with the virus that causes German measles. Congenital means the condition is present at birth. ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... . 8th ed. Philadelphia, PA: Elsevier Churchill Livingstone; ...

  4. Maternal Caffeine Consumption and Risk of Congenital Limb Deficiencies

    PubMed Central

    Chen, Lei; Bell, Erin M.; Browne, Marilyn L.; Druschel, Charlotte M.; Romitti, Paul A.; Schmidt, Rebecca J.; Burns, Trudy L.; Moslehi, Roxana; Olney, Richard S.

    2015-01-01

    BACKGROUND Animal studies have shown that high doses of caffeine might cause congenital limb deficiencies (LDs); however, no epidemiologic studies have explored this relation. METHODS This case-control study assessed associations between maternal dietary caffeine and congenital LDs using data from the National Birth Defects Prevention Study (NBDPS), with 844 LD cases and 8069 controls from 1997 to 2007. Caffeine intakes from beverages (coffee, tea, and soda) and chocolate combined and by beverage type were examined. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated for subtypes of isolated LDs (no additional major anomalies) and LDs with other major anomalies separately, comparing the odds of 10 to <100, 100 to <200, 200 to <300, and 300+ mg/day total caffeine intake to 0 to <10 mg/day. RESULTS All total dietary caffeine intake categories of 10 mg/day and above were marginally associated with odds of all isolated LDs combined (aOR, 1.4–1.7), isolated longitudinal LDs (aOR, 1.2–1.6), and isolated transverse LDs (aOR, 1.3–1.8) compared to the lowest intake category. A dose-response pattern for total dietary caffeine intake was not observed. CONCLUSIONS A weak increased risk of congenital LDs associated with maternal dietary caffeine consumption was observed in this study; however, risk did not vary by amount of caffeine consumed. PMID:22903936

  5. Congenital Cataract Screening.

    PubMed

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  6. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  7. Update: Interim Guidance for the Evaluation and Management of Infants with Possible Congenital Zika Virus Infection - United States, August 2016.

    PubMed

    Russell, Kate; Oliver, Sara E; Lewis, Lillianne; Barfield, Wanda D; Cragan, Janet; Meaney-Delman, Dana; Staples, J Erin; Fischer, Marc; Peacock, Georgina; Oduyebo, Titilope; Petersen, Emily E; Zaki, Sherif; Moore, Cynthia A; Rasmussen, Sonja A

    2016-01-01

    CDC has updated its interim guidance for U.S. health care providers caring for infants born to mothers with possible Zika virus infection during pregnancy (1). Laboratory testing is recommended for 1) infants born to mothers with laboratory evidence of Zika virus infection during pregnancy and 2) infants who have abnormal clinical or neuroimaging findings suggestive of congenital Zika syndrome and a maternal epidemiologic link suggesting possible transmission, regardless of maternal Zika virus test results. Congenital Zika syndrome is a recently recognized pattern of congenital anomalies associated with Zika virus infection during pregnancy that includes microcephaly, intracranial calcifications or other brain anomalies, or eye anomalies, among others (2). Recommended infant laboratory evaluation includes both molecular (real-time reverse transcription-polymerase chain reaction [rRT-PCR]) and serologic (immunoglobulin M [IgM]) testing. Initial samples should be collected directly from the infant in the first 2 days of life, if possible; testing of cord blood is not recommended. A positive infant serum or urine rRT-PCR test result confirms congenital Zika virus infection. Positive Zika virus IgM testing, with a negative rRT-PCR result, indicates probable congenital Zika virus infection. In addition to infant Zika virus testing, initial evaluation of all infants born to mothers with laboratory evidence of Zika virus infection during pregnancy should include a comprehensive physical examination, including a neurologic examination, postnatal head ultrasound, and standard newborn hearing screen. Infants with laboratory evidence of congenital Zika virus infection should have a comprehensive ophthalmologic exam and hearing assessment by auditory brainstem response (ABR) testing before 1 month of age. Recommendations for follow-up of infants with laboratory evidence of congenital Zika virus infection depend on whether abnormalities consistent with congenital Zika syndrome

  8. Congenital hypothyroidism.

    PubMed

    Abduljabbar, Mohammad A; Afifi, Ashraf M

    2012-01-01

    Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helped in understanding the early events in thyroid gland embryogenesis, mechanisms of thyroid action in the brain, the molecular basis for many of the inborn errors of thyroid hormonogenesis, and thyroid hormone action. However, many questions and challenges are still not answered. For example, the increasing numbers of surviving small and premature neonates with abnormalities in thyroid function need definite diagnostic criteria and whether they require medical therapy. Another challenge is the dilemma of finding the best screening methodology that is sensitive and cost effective. PMID:22570946

  9. Congenital Heart Defects in Adults : A Field Guide for Cardiologists

    PubMed Central

    Romfh, Anitra; Pluchinotta, Francesca Romana; Porayette, Prashob; Valente, Anne Marie; Sanders, Stephen P.

    2013-01-01

    Advances in cardiology and cardiac surgery allow a large proportion of patients with congenital heart defects to survive into adulthood. These patients frequently develop complications characteristic of the defect or its treatment. Consequently, adult cardiologists participating in the care of these patients need a working knowledge of the more common defects. Occasionally, patients with congenital heart defects such as atrial septal defect, Ebstein anomaly or physiologically corrected transposition of the great arteries present for the first time in adulthood. More often patients previously treated in pediatric cardiology centers have transitioned to adult congenital heart disease centers for ongoing care. Some of the more important defects in this category are tetralogy of Fallot, transposition of the great arteries, functionally single ventricle defects, and coarctation. Through this field guide, we provide an overview of the anatomy of selected defects commonly seen in an adult congenital practice using pathology specimens and clinical imaging studies. In addition, we describe the physiology, clinical presentation to the adult cardiologist, possible complications, treatment options, and outcomes. PMID:24294540

  10. Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome.

    PubMed

    Singh, Aneet; Pilli, Ganga S; Bannur, Hema

    2016-01-01

    Fryns syndrome is a multiple congenital anomaly syndrome with an autosomal recessive inheritance. Here we describe the autopsy case findings of a 19-week male fetus, born out of a consanguineous marriage. The dissection revealed left-sided diaphragmatic hernia, resulting in pulmonary hypoplasia and shift of heart to the right side. In addition, anencephaly and spina bifida throughout the vertebral column were observed. All six criteria for Fryns syndrome were met. Such a presentation of Fryns syndrome associated with Craniorachischisis Totalis has not been reported so far. We have also tabulated the overlapping features of some multiple congenital anomaly syndromes that need to be distinguished at autopsy for an accurate diagnosis. PMID:27064748

  11. 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

  12. Holonomy anomalies

    SciTech Connect

    Bagger, J.; Nemeschansky, D.; Yankielowicz, S.

    1985-05-01

    A new type of anomaly is discussed that afflicts certain non-linear sigma models with fermions. This anomaly is similar to the ordinary gauge and gravitational anomalies since it reflects a topological obstruction to the reparametrization invariance of the quantum effective action. Nonlinear sigma models are constructed based on homogeneous spaces G/H. Anomalies arising when the fermions are chiral are shown to be cancelled sometimes by Chern-Simons terms. Nonlinear sigma models are considered based on general Riemannian manifolds. 9 refs. (LEW)

  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. 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

  15. [Congenital syphilis].

    PubMed

    Tabák, Réka; Tabák, Adám; Várkonyi, Viktória

    2010-01-10

    Syphilis has been a re-emerging disease in the past few decades. As a consequence, the prevalence of congenital syphilis is expected to be on the rise. Maternal syphilis may be related to several pathologies, such as miscarriage, stillbirth, or congenital syphilis in the child. Infants that acquire syphilis in utero are frequently asymptomatic, and the organ damage caused by the infection may be apparent only years later. Syphilis is a curable disease, and most of its complications in the infant can be prevented by screening and treating the mother. Every newborn potentially infected should be treated with penicillin immediately starting on the day of birth. PMID:20061233

  16. Bangui Anomaly

    NASA Technical Reports Server (NTRS)

    Taylor, Patrick T.

    2004-01-01

    Bangui anomaly is the name given to one of the Earth s largest crustal magnetic anomalies and the largest over the African continent. It covers two-thirds of the Central African Republic and therefore the name derives from the capitol city-Bangui that is also near the center of this feature. From surface magnetic survey data Godivier and Le Donche (1962) were the first to describe this anomaly. Subsequently high-altitude world magnetic surveying by the U.S. Naval Oceanographic Office (Project Magnet) recorded a greater than 1000 nT dipolar, peak-to-trough anomaly with the major portion being negative (figure 1). Satellite observations (Cosmos 49) were first reported in 1964, these revealed a 40nT anomaly at 350 km altitude. Subsequently the higher altitude (417-499km) POGO (Polar Orbiting Geomagnetic Observatory) satellite data recorded peak-to-trough anomalies of 20 nT these data were added to Cosmos 49 measurements by Regan et al. (1975) for a regional satellite altitude map. In October 1979, with the launch of Magsat, a satellite designed to measure crustal magnetic anomalies, a more uniform satellite altitude magnetic map was obtained. These data, computed at 375 km altitude recorded a -22 nT anomaly (figure 2). This elliptically shaped anomaly is approximately 760 by 1000 km and is centered at 6%, 18%. The Bangui anomaly is composed of three segments; there are two positive anomalies lobes north and south of a large central negative field. This displays the classic pattern of a magnetic anomalous body being magnetized by induction in a zero inclination field. This is not surprising since the magnetic equator passes near the center of this body.

  17. [Congenital dislocation of the knee: report of 2 cases].

    PubMed

    Ochoa Gómez, L; Sánchez Gimeno, J; García Barrecheguren, E; Marulanda Del Valle, K; Almonte Adón, K; Guerrero Laleona, C

    2015-01-01

    Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome. PMID:24767460

  18. Spontaneous resolution of isolated congenital megacystis: the incredible shrinking bladder

    PubMed Central

    Johnson, Emilie K.; Nelson, Caleb P.

    2014-01-01

    Isolated congenital megacystis represents a rare variant of fetal megacystis without other associated anomalies. The etiology is unclear, and various management strategies have been proposed. We report a case of isolated congenital megacystis that resolved over the first year of life with observation alone. Considerations for the evaluation and management of this rare entity are discussed. PMID:22910450

  19. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  20. Congenital amusias.

    PubMed

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." PMID:25726292

  1. Common Dental Anomalies in Cleft Lip and Palate Patients

    PubMed Central

    HAQUE, Sanjida; ALAM, Mohammad Khursheed

    2015-01-01

    Background: Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. Methods: By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Results: Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. Conclusion: The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies. PMID:26023296

  2. Congenital sensorineural hearing loss

    SciTech Connect

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

    1984-02-01

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

  3. Congenital Hydrocephalus.

    PubMed

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. PMID:26704658

  4. [Congenital thoracic defects demonstrated by radiophotography].

    PubMed

    Jonescu, N; Ionescu, G C

    1991-01-01

    Costal congenital defects are malformations or anomalies of dimension, location or structure of the ribs, generated by disturbances of prenatal development. These anomalies appear in mesoderm which also gives rise to skeleton, muscles, serums, conjunctive tissues, circulatory system and urogenital apparatus. Of the 59,225 persons examined, 502 had costal congenital defects. The presence of azygos lobe (Wrisberg's lobe) in 158 cases (0.26%), of right aortic (arcs high dextroposition of cross) in 2 cases and (3%000) dextroposition of heart in 6 cases (10%000), out of which a situs inversus (complete cardiovascular transposition) were noticed as congenital defects with common origin in embryonic mesoderm. Medical radiophotography can be used as a method in detecting congenital costal defects. Other defects in other organs can be also detected. The congenital costal defects found in an rf examined population, representing a part of the total of congenital malformations, may be one of their indirect epidemiologic indices. Their existence may lead to the explanation of the symptomatology of the nervous compressive type on brachiocephalic vascular, etc. plexus. As some of the defects are an excess of osseous and cartilaginous matter, they may be used, when indicated, as autografts. PMID:1823198

  5. Congenital Agenesis of the Left Lung: A Rare Case

    PubMed Central

    Yetim, Tülin Durgun; Bayaroğullari, Hanifi; Yalçin, Hülya Polat; Arιca, Vefik; Arιca, Seçil Gunher

    2011-01-01

    Pulmonary agenesis is a rare congenital anomaly, the etiology of which is not clearly known. Other systemic comorbidities such as cardiovascular, gastrointestinal, musculoskeletal, and urogenital system anomalies can be observed in more than half of the patients. It is usually diagnosed during childhood. Diagnosis in adulthood is very rare. We present a case of pulmonary agenesis diagnosed in an adult. PMID:22059149

  6. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro. PMID:19799481

  7. Congenital Adrenal Hyperplasia

    MedlinePlus

    MENU Return to Web version Congenital Adrenal Hyperplasia Overview What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia, or CAH, is a disorder that affects the adrenal glands. The adrenal ...

  8. Cranial and dental anomalies in three species of platyrrhine monkeys from Nicaragua.

    PubMed

    Smith, J D; Genoways, H H; Jones, J K

    1977-01-01

    This paper presents information on the cranial and dental anomalies observed in the crania of three species of platyrrhine monkeys collected in Nicaragua. Cranial anomalies that are discussed include plagiocephaly, bregmatic fontanelle bones, Wormian bones, cranial trauma, and heterotopic bones. Among the dental anomalies that were studied were the following: crazing caries, periodontal and pulpal disorders, alveolar thinning, mechanical loss, excessive attrition, shear bite, impacted molars, supernumerary teeth, congenital agencies, congenital crown aberration, and irregular placement. PMID:410706

  9. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  10. Post-mortem cytogenomic investigations in patients with congenital malformations.

    PubMed

    Dias, Alexandre Torchio; Zanardo, Évelin Aline; Dutra, Roberta Lelis; Piazzon, Flavia Balbo; Novo-Filho, Gil Monteiro; Montenegro, Marilia Moreira; Nascimento, Amom Mendes; Rocha, Mariana; Madia, Fabricia Andreia Rosa; Costa, Thais Virgínia Moura Machado; Milani, Cintia; Schultz, Regina; Gonçalves, Fernanda Toledo; Fridman, Cintia; Yamamoto, Guilherme Lopes; Bertola, Débora Romeo; Kim, Chong Ae; Kulikowski, Leslie Domenici

    2016-08-01

    Congenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of DNA copy number aberrations in different samples of post-mortem tissues from patients with congenital malformations. Twenty-eight patients undergoing autopsy were cytogenomically evaluated using several methods, specifically, Multiplex Ligation-dependent Probe Amplification (MLPA), microsatellite marker analysis with a MiniFiler kit, FISH, a cytogenomic array technique and bidirectional Sanger sequencing, which were performed on samples of different tissues (brain, heart, liver, skin and diaphragm) preserved in RNAlater, in formaldehyde or by paraffin-embedding. The results identified 13 patients with pathogenic copy number variations (CNVs). Of these, eight presented aneuploidies involving chromosomes 13, 18, 21, X and Y (two presented inter- and intra-tissue mosaicism). In addition, other abnormalities were found, including duplication of the TYMS gene (18p11.32); deletion of the CHL1 gene (3p26.3); deletion of the HIC1 gene (17p13.3); and deletion of the TOM1L2 gene (17p11.2). One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations. PMID:27450648

  11. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

    VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association. PMID:23653577

  12. 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

  13. DOWN'S ANOMALY.

    ERIC Educational Resources Information Center

    PENROSE, L.S.; SMITH, G.F.

    BOTH CLINICAL AND PATHOLOGICAL ASPECTS AND MATHEMATICAL ELABORATIONS OF DOWN'S ANOMALY, KNOWN ALSO AS MONGOLISM, ARE PRESENTED IN THIS REFERENCE MANUAL FOR PROFESSIONAL PERSONNEL. INFORMATION PROVIDED CONCERNS (1) HISTORICAL STUDIES, (2) PHYSICAL SIGNS, (3) BONES AND MUSCLES, (4) MENTAL DEVELOPMENT, (5) DERMATOGLYPHS, (6) HEMATOLOGY, (7)…

  14. New patterns in genetic and congenital otonephropathies.

    PubMed

    Bergstrom, L; Thompson, P; Wood, R P

    1979-02-01

    In a series of chronic renal and congenitally deaf patients 24 were identified as having inborn renal and otologic disease. Sixteen patients, representing 14 families, had genetic disorders. Only two had the features of Alport's syndrome. The patients were classified as follows: 1) Probable Alport's--2 patients (1 family); 2) Atypical hereditary nephritis and sensorineural hearing loss--7 patients; 3) Renal and inner ear anomalies--1 patient; 4) Renal, inner ear and multiple anomalies--4 patients. The temporal bone pathology in one case showed primary neural atrophy and a mild Mondini malformation. In another a Scheibe defect and unusual calcific structures were found in the cochlear duct. 5) Renal, external or middle ear and multiple anomalies--6 patients (5 families); 6 Renal, middle and inner ear anomalies and multiple anomalies--2 patients. A temporal bone obtained from one case showed combined middle and inner ear defects. In the other, who had a chromosome defect, predominantly middle ear anomalies were found. 7) Nephrotic syndrome and congenital hearing loss--1 patient; 8) Unclassified--1 patient. Some cases represent entities apparently not previously described. Probably most interesting is the delineation of hereditary nephritis and deafness distinct from Alport's disease. PMID:423658

  15. Congenital neuroblastoma

    PubMed Central

    Evans, A. R.

    1965-01-01

    The clinical histories and post-mortem findings in five cases of neuroblastoma are described, and an account given of the microscopic characteristics of the tumours. In four of the cases the tumour was present at birth and was probably so in the fifth case. In only one case was the presence of the malignant tumour a significant factor in causing death. The differential diagnosis of such tumours is discussed. The accumulated evidence of many recorded cases suggests that neuroblastoma, becoming manifest in the early months or weeks of life, and congenital tumour, would be included in such a group, and has an appreciably better prognosis than has this same tumour when it becomes manifest in later childhood. The literature is briefly reviewed to illustrate this aspect of prognosis and possible reasons for it are indicated. Images PMID:14247705

  16. Congenital Cholesteatoma.

    PubMed

    Walker, David; Shinners, Michael J

    2016-05-01

    Congenital cholesteatoma is one of the more common causes of the onset of childhood conductive hearing loss unrelated to middle ear effusion. If undiagnosed, the disease can progress to irreversibly destroy the conductive hearing architecture, as well as the surrounding skull base of the lateral temporal bone. When diagnosed early, the growth can be removed and the conductive hearing mechanism preserved in the vast majority of patients. Because most children are asymptomatic, the burden falls on primary care providers to perform pneumatic otoscopy and visualize all quadrants of the tympanic membrane even in young children who frequently resist attempts to conduct a thorough examination to rule out suspicious lesions. [Pediatr Ann. 2016;45(5):e167-e170.]. PMID:27171804

  17. Congenital limb deficiency classification and nomenclature: The need for a consensus.

    PubMed

    Lowry, Robert Brian; Bedard, Tanya

    2016-06-01

    After the thalidomide epidemic in the early 1960s, many jurisdictions developed congenital anomaly surveillance systems. Congenital limb deficiencies can act as indicators of potential teratogens. The classification of congenital limb deficiencies is essential to determine the precise cause or causes of this anomaly. This article describes the different terminology and classification that have been used over time and the need for a consensus. While there are a variety of studies examining the epidemiology and etiology of congenital limb deficiencies, there is an inconsistent use of terminology and classification which makes comparisons between studies challenging. © 2016 Wiley Periodicals, Inc. PMID:27027980

  18. Congenital hypothyroidism

    PubMed Central

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  19. Congenital Absence of the Internal Carotid Artery

    SciTech Connect

    Florio, Francesco; Balzano, Silverio; Nardella, Michele; Strizzi, Vincenzo; Cammisa, Mario; Bozzini, Vincenzo; Catapano, Giuseppe; D'Angelo, Vincenzo

    1999-01-15

    We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography.

  20. 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

  1. A Genome Wide Linkage Scan for Cleft Lip and Palate and Dental Anomalies

    PubMed Central

    Vieira, Alexandre R.; McHenry, Toby G.; Daack-Hirsch, Sandra; Murray, Jeffrey C.; Marazita, Mary L.

    2008-01-01

    We revisited 46 families with two or more siblings affected with an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. We carried out four sets of genome wide analyses. First, we ran the analysis solely on the cleft status. Second, we assigned to any dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) an affection status, and repeated the analysis. Third, we ran only the 19 families where the proband had a cleft with no dental anomalies. Finally, we ran only the 27 families that had a proband with cleft and additional dental anomalies outside the cleft area. Chromosomes (1, 2, 6, 8, 16, and 19) presented regions with LOD scores >2.0. Chromosome 19 has the most compelling results in our study. The LOD scores increased from 3.11 (in the scan of all 46 families with clefts as the only assigned affection status) to 3.91 when the 19 families whose probands present with no additional dental anomalies were studied, suggesting the interval 19p13.12-19q12 may contain a gene that contributes to clefts but not to dental anomalies. On the other hand, we found a LOD score of 3.00 in the 2q22.3 region when dental anomalies data were added to the analysis to define affection status. Our preliminary results support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Also, adding dental anomalies information will provide new opportunities to map susceptibility loci for clefts. PMID:18442096

  2. Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.

    PubMed

    Martínez-Jacobo, L; Córdova-Fletes, C; Ortiz-López, R; Rivas, F; Saucedo-Carrasco, C; Rojas-Martínez, A

    2013-09-01

    In this study, we present a female patient with a constitutional de novo deletion in 7q21.3q31.1 as determined by G-banding and CGH-SNP arrays. She exhibited, among other features, psychomotor retardation, congenital severe bilateral glaucoma, a cleft palate, and heart defect. Microarray assay disclosed a deleted 12.5-Mb region roughly 88 kb downstream the ectrodactyly critical region; thus, the patient's final karyotype was 46,XX.arr 7q21.3q31.1(96,742,140-109,246,085)×1 dn. This girl represents the fourth patient described so far with congenital glaucoma and a deletion encompassing or overlapping the 7q21.3q31.1 region, and confirms the presence of a locus or loci related to such a clinical feature. According to our results, the proneness to ocular defects secondary to 7q intermediate deletions could be caused by co-deletion of TAC1, HBP1, and a small cluster of cytochrome P450 genes (subfamily 3A). This conclusion is supported by their functional roles and expression locations as well as because TAC1 is related to the functional pathway of the MYOC gene whose mutations are linked to glaucoma. Moreover, given that this girl is clinically reminiscent of several phenotypes related to diverse deletions within 7q21q32, our results and observations offer a general overview of the gene content of deletions/phenotypes overlapping 7q21.3q31.1 and confirm that loci distal to DLX genes including the CUX1 gene and potential regulatory elements downstream from DLX5 are unrelated to ectrodactyly. PMID:24167464

  3. Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma

    PubMed Central

    Martínez-Jacobo, L.; Córdova-Fletes, C.; Ortiz-López, R.; Rivas, F.; Saucedo-Carrasco, C.; Rojas-Martínez, A.

    2013-01-01

    In this study, we present a female patient with a constitutional de novo deletion in 7q21.3q31.1 as determined by G-banding and CGH-SNP arrays. She exhibited, among other features, psychomotor retardation, congenital severe bilateral glaucoma, a cleft palate, and heart defect. Microarray assay disclosed a deleted 12.5-Mb region roughly 88 kb downstream the ectrodactyly critical region; thus, the patient's final karyotype was 46,XX.arr 7q21.3q31.1(96,742,140-109,246,085)×1 dn. This girl represents the fourth patient described so far with congenital glaucoma and a deletion encompassing or overlapping the 7q21.3q31.1 region, and confirms the presence of a locus or loci related to such a clinical feature. According to our results, the proneness to ocular defects secondary to 7q intermediate deletions could be caused by co-deletion of TAC1, HBP1, and a small cluster of cytochrome P450 genes (subfamily 3A). This conclusion is supported by their functional roles and expression locations as well as because TAC1 is related to the functional pathway of the MYOC gene whose mutations are linked to glaucoma. Moreover, given that this girl is clinically reminiscent of several phenotypes related to diverse deletions within 7q21q32, our results and observations offer a general overview of the gene content of deletions/phenotypes overlapping 7q21.3q31.1 and confirm that loci distal to DLX genes including the CUX1 gene and potential regulatory elements downstream from DLX5 are unrelated to ectrodactyly. PMID:24167464

  4. Frequency of Foetal Anomalies in a Tertiary Care Centre

    PubMed Central

    Babu, Rameswarapu Suman; Pasula, Sujatha

    2013-01-01

    Objective: The present study was undertaken to explore the incidence of congenital foetal anomalies and the advantages of ultrasonography in detecting the foetal anomalies during the antenatal period. Method: We focused our study on 1000 consecutive pregnancies that came for check up in the second and third trimesters, with major or minor clinically relevant malformations which were detectable by ultrasonography. Results: The analysis revealed that they were 38 foetal anomalies in 37 foetuses. One had multiple anomalies, with the highest incidence of neural tube defects. There was also significant correlation with consanguinity. Conclusion: The overall incidence of congenital foetal anomalies in the present study was 3.8%.This might be probably due to environmental pollution, radiation, exposure to different chemicals and teratogenic drugs. PMID:23998044

  5. Multiple ophthalmic anomalies and digital hypoplasia.

    PubMed

    Chemke, J; Oliver, M; Mallek, D; Kaveh, Z

    1978-03-01

    Multiple congenital eye and hand anomalies occurred in a young female born to normal but consanguineous parents. Both eyes were microphthalmic with severe corneal, iris lens pathology. Ultrasonography revealed multiple echos from the vitreous. The ocular findings are suggestive of retinal dysplasia. A skeletal dysplasia, presenting as distal phalangeal hypoplasia, was found in both hands. There was no history of intrauterine exposure to drugs. This appears to be a unique association of congenital malformations, without other systemic involvement. Diagnostic and genetic implications are discussed. PMID:97363

  6. The Dens: Normal Development, Developmental Variants and Anomalies, and Traumatic Injuries.

    PubMed

    O'Brien, William T; Shen, Peter; Lee, Paul

    2015-01-01

    Accurate interpretation of cervical spine imagining can be challenging, especially in children and the elderly. The biomechanics of the developing pediatric spine and age-related degenerative changes predispose these patient populations to injuries centered at the craniocervical junction. In addition, congenital anomalies are common in this region, especially those associated with the axis/dens, due to its complexity in terms of development compared to other vertebral levels. The most common congenital variations of the dens include the os odontoideum and a persistent ossiculum terminale. At times, it is necessary to distinguish normal development, developmental variants, and developmental anomalies from traumatic injuries in the setting of acute traumatic injury. Key imaging features are useful to differentiate between traumatic fractures and normal or variant anatomy acutely; however, the radiologist must first have a basic understanding of the spectrum of normal developmental anatomy and its anatomic variations in order to make an accurate assessment. This review article attempts to provide the basic framework required for accurate interpretation of cervical spine imaging with a focus on the dens, specifically covering the normal development and ossification of the dens, common congenital variants and their various imaging appearances, fracture classifications, imaging appearances, and treatment options. PMID:26199787

  7. The Dens: Normal Development, Developmental Variants and Anomalies, and Traumatic Injuries

    PubMed Central

    O’Brien, William T; Shen, Peter; Lee, Paul

    2015-01-01

    Accurate interpretation of cervical spine imagining can be challenging, especially in children and the elderly. The biomechanics of the developing pediatric spine and age-related degenerative changes predispose these patient populations to injuries centered at the craniocervical junction. In addition, congenital anomalies are common in this region, especially those associated with the axis/dens, due to its complexity in terms of development compared to other vertebral levels. The most common congenital variations of the dens include the os odontoideum and a persistent ossiculum terminale. At times, it is necessary to distinguish normal development, developmental variants, and developmental anomalies from traumatic injuries in the setting of acute traumatic injury. Key imaging features are useful to differentiate between traumatic fractures and normal or variant anatomy acutely; however, the radiologist must first have a basic understanding of the spectrum of normal developmental anatomy and its anatomic variations in order to make an accurate assessment. This review article attempts to provide the basic framework required for accurate interpretation of cervical spine imaging with a focus on the dens, specifically covering the normal development and ossification of the dens, common congenital variants and their various imaging appearances, fracture classifications, imaging appearances, and treatment options. PMID:26199787

  8. Congenital hypothyroidism.

    PubMed

    Rastogi, Maynika V; LaFranchi, Stephen H

    2010-01-01

    Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis

  9. Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

    PubMed Central

    Smigiel, Robert; Misiak, Blazej; Golebiowski, Waldemar; Lebioda, Arleta; Dorobisz, Urszula; Zielinska, Marzena; Patkowski, Dariusz

    2012-01-01

    Heterotaxia (HTX) is a heterogeneous group of laterality defects characterized by abnormal discordance of asymmetric thoracic and abdominal organs. Esophageal anomalies occur rarely in HTX cases although additional defects associated with esophageal atresia are common. We report on a rare case of a neonate with HTX and multiple congenital malformations as well as specific facial dysmorphism, corresponding only to a few cases described in literature. Clinical examination of the proband revealed esophageal atresia with distal tracheoesophageal fistula, anal atresia, abdominal situs inversus, dextrocardia with complex congenital heart defect and left lung agenesis. A complex genetic analysis revealed no genetic abnormalities. Despite extensive diagnostic procedures, the cause of the laterality sequence disruption remains unclear, indicating its multifactorial etiology.

  10. A rare case of renal hydatidosis in a child with congenital solitary kidney.

    PubMed

    Tirnea, Livius; Minciu, Radu; Olariu, Tudor Rares; Dumitrascu, Victor; Neghina, Adriana Maria; Neghina, Raul

    2014-08-01

    Hydatid cyst of a solitary congenital kidney is a rare entity because of the small percentage of cases with renal hydatidosis and the reduced number of cases with this renal anomaly. We report a case presenting this extremely rare combination and having a favorable outcome. The diagnosis was confirmed based on an association of imagistic techniques and positive serology. The case was managed using a minimal invasive surgical technique (PAIR) that reduced the operative risks. Additionally, an antihelminthic agent (albendazole) was administered. To our knowledge, this is the first case with such comorbidity and treated through percutaneous approach. PMID:25149385

  11. Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

    PubMed Central

    Wat, Margaret J.; Shchelochkov, Oleg A.; Holder, Ashley M.; Breman, Amy M.; Dagli, Aditi; Bacino, Carlos; Scaglia, Fernando; Zori, Roberto T.; Cheung, Sau Wai; Scott, Daryl A.; Kang, Sung-Hae Lee

    2009-01-01

    Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these birth defects. We describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genome hybridization. To better define the genotype/phenotype relationships associated with alterations of genes on 8p23.1, we review the spectrum of congenital heart and diaphragmatic defects that have been reported in individuals with isolated GATA4 mutations and interstitial, terminal, and complex chromosomal rearrangements involving the 8p23.1 region. Our findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to GATA4, may play a role in the severe cardiac and diaphragmatic defects associated with 8p23.1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm. PMID:19606479

  12. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  13. Congenitally corrected transposition and degenerative severe aortic stenosis.

    PubMed

    Faganello, Giorgio; Nelson, Martin; Stuart, Graham

    2008-10-01

    Congenitally corrected transposition is a rare cardiac anomaly characterized by the combination of discordant atrioventricular and ventriculoarterial connections. Young patients with this lesion can present with congestive cardiac failure, usually secondary to a large ventricular septal defect or pulmonary stenosis. We report here our experience with a lady aged 79, admitted to our unit because of deterioration of her congestive cardiac failure as a consequence of uncorrected congenitally corrected transposition associated with degenerative severe aortic stenosis. PMID:18752714

  14. Renal Anomalies Associated with Ectopic Neurohypophysis

    PubMed Central

    Özen, Samim; Şişmek, Damla Gökşen; Önder, Asan; Darcan, Şükran

    2011-01-01

    Objective: Although the etiology of ectopic neurohypophysis that leads to pituitary hormone deficiencies is not yet clearly understood, birth trauma or genetic factors have been considered responsible. Concurrent cranial and extracranial congenital anomalies have been reported in such cases. The aim of the present study was to investigate the frequency of renal anomalies in nonsyndromic cases with ectopic neurohypophysis. Methods: We retrospectively evaluated the medical records of 20 patients with ectopic neurohypophysis who were followed up between January 1990 and December 2007 in a tertiary University Hospital. Results: Renal anomalies were identified in three (15%) cases including unilateral renal agenesis in one case, renal hypoplasia in one case, and double collecting system and unilateral renal agenesis in one case. Conclusions: In the present study, the increased frequency of renal anomalies in cases of ectopic neurohypophysis was highlighted, and it was emphasized that there might be common genetic factors that lead to such associations. Conflict of interest:None declared. PMID:21750632

  15. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  16. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

    PubMed Central

    Weaver, K. Nicole; Watt, Kristin E. Noack; Hufnagel, Robert B.; Navajas Acedo, Joaquin; Linscott, Luke L.; Sund, Kristen L.; Bender, Patricia L.; König, Rainer; Lourenco, Charles M.; Hehr, Ute; Hopkin, Robert J.; Lohmann, Dietmar R.; Trainor, Paul A.; Wieczorek, Dagmar; Saal, Howard M.

    2015-01-01

    We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1. All three individuals exhibit varying degrees of mandibulofacial dysostosis, and two additionally have limb anomalies. Consistent with this observation, we discovered that polr1a mutant zebrafish exhibited cranioskeletal anomalies mimicking the human phenotype. polr1a loss of function led to perturbed ribosome biogenesis and p53-dependent cell death, resulting in a deficiency of neural-crest-derived skeletal precursor cells and consequently craniofacial anomalies. Our findings expand the genotypic and phenotypic heterogeneity of congenital acrofacial disorders caused by disruption of ribosome biogenesis. PMID:25913037

  17. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

    PubMed

    Weaver, K Nicole; Watt, Kristin E Noack; Hufnagel, Robert B; Navajas Acedo, Joaquin; Linscott, Luke L; Sund, Kristen L; Bender, Patricia L; König, Rainer; Lourenco, Charles M; Hehr, Ute; Hopkin, Robert J; Lohmann, Dietmar R; Trainor, Paul A; Wieczorek, Dagmar; Saal, Howard M

    2015-05-01

    We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1. All three individuals exhibit varying degrees of mandibulofacial dysostosis, and two additionally have limb anomalies. Consistent with this observation, we discovered that polr1a mutant zebrafish exhibited cranioskeletal anomalies mimicking the human phenotype. polr1a loss of function led to perturbed ribosome biogenesis and p53-dependent cell death, resulting in a deficiency of neural-crest-derived skeletal precursor cells and consequently craniofacial anomalies. Our findings expand the genotypic and phenotypic heterogeneity of congenital acrofacial disorders caused by disruption of ribosome biogenesis. PMID:25913037

  18. 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

  19. Surgical management of complete penile duplication accompanied by multiple anomalies

    PubMed Central

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

    2014-01-01

    Diphallus (penile duplication) is very rare and seen once every 5.5 million births. It can be isolated, but is usually accompanied by other congenital anomalies. Previous studies have reported many concurrent anomalies, such as bladder extrophy, cloacal extrophy, duplicated bladder, scrotal abnormalities, hypospadias, separated symphysis pubis, intestinal anomalies and imperforate anus; no penile duplication case accompanied by omphalocele has been reported. We present the surgical management of a patient with multiple anomalies, including complete penile duplication, hypo-gastric omphalocele and extrophic rectal duplication. PMID:25408817

  20. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  1. Congenital diaphragmatic hernia.

    PubMed

    Tovar, Juan A

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  2. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  3. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  4. Congenital heart disease

    MedlinePlus

    Congenital heart disease is a problem with the heart's structure and function that is present at birth. ... Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common ...

  5. Adult Congenital Heart Association

    MedlinePlus

    ... to ACHA Search The futures of adults with congenital heart disease made brighter by their pasts Get Involved 2016 ... conference theme is "The Changing Landscape of Adult Congenital Heart Disease." Join Us Help us improve the quality of ...

  6. Congenital Heart Information Network

    MedlinePlus

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  7. Prevalence of congenitally missing permanent teeth in Iran

    PubMed Central

    Sheikhi, Mahnaz; Sadeghi, Mohammad Ali; Ghorbanizadeh, Sajad

    2012-01-01

    Background: Hypodontia or congenitally missing teeth is among dental anomalies with different prevalence in each region. The aim of this study was to evaluate the prevalence of congenitally missing permanent teeth in Iranian population. Materials and Methods: A descriptive, retrospective and cross-sectional study was done. Panoramic radiographs of 2422 Iranian patients (1539 girls and 883 boys), 7-25 years old, were collected. The radiographs were studied for evidence of congenitally missing teeth. Data were analyzed using Paired t-test, Mann-Whitney test, Fisher exact test and Chi-square test (α = 0.05). Results: Prevalence of congenitally missing teeth was totally 45.7% and 34.8% for third molars. The most frequent congenitally missing teeth was mandibular second premolars (23.34%) followed by maxillary second premolars (22.02%). Upper jaw showed significantly higher number of congenitally missing teeth (P value < 0.001). According to Chi-square test, congenital missing teeth was found approximately 10.9% in both females and males and there were no statistically significant difference between sexes (P = 0.19). Conclusion: The prevalence of congenitally missing teeth (CMT) in Iranian permanent dentition was 10.9%. The most common congenitally missing teeth were mandibular second premolar fallowed by maxillary second premolars. PMID:23814548

  8. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  9. Congenital Intralabyrinthine Cholesteatoma

    PubMed Central

    Prasad, Sanjay; Prasad, Kiran; Azadarmaki, Roya

    2014-01-01

    A patient with a congenital intralabyrinthine cholesteatoma is presented. High-resolution computerized tomographic scans and intraoperative photomicrographs display features of intralabyrinthine extension. We discuss pathogenetic theories for the development of congenital intralabyrinthine cholesteatoma. The distinction of this condition from congenital cholesteatoma with labyrinthine erosion is discussed. PMID:25057421

  10. Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome.

    PubMed

    Khan, Aneal; Hyde, R Katherine; Dutra, Amalia; Mohide, Patrick; Liu, Paul

    2006-11-01

    The core binding factor beta gene (CBFB), essential to bone morphogenesis, is located at 16q22.1. Homozygous deficiency of CBFB leads to ossification defects in mice. CBFB forms a heterodimer with RUNX2 (CBFA1) during embryonic bone development. RUNX2 mutations lead to cleidocranial dysplasia in humans. We describe an infant boy with an interstitial deletion of 16q21q22, delayed skull ossification, cleft palate, and heart anomalies who had a difficult course in infancy but eventually improved and is healthy. He was found to have CBFB haploinsufficiency, but did not have mutations in RUNX2. We suggest that 16q21q22 deletion be considered when there are antenatal or postnatal findings of enlarged cranial sutures with or without cleft palate. The finding of CBFB haploinsufficiency in our case and the similarity of cranial ossification defects with a mouse model of CBFB deletion suggest a role for CBFB in cranial bone development in humans. PMID:17022082

  11. 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

  12. Congenital Scoliosis in Smith–Magenis Syndrome

    PubMed Central

    Li, Zheng; Shen, Jianxiong; Liang, Jinqian; Sheng, Lin

    2015-01-01

    Abstract The Smith–Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of scoliosis occurring in the setting of SMS and explore the possible mechanisms between the 2 diseases. The patient is a 13-year-old Chinese female with congenital scoliosis and Tetralogy of Fallot, mental retardation, obstructive sleep apnea, hypertrophy of tonsil, conductive hearing loss, and agenesis of the epiglottis. An interphase fluorescent in situ hybridization at chromosome 17p11.2 revealed a heterozygous deletion, confirming a molecular diagnosis of SMS. She underwent a posterior correction at thoracic 1-lumbar 1 (T1-L1) levels, using the Moss-SI spinal system. At 6-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of correction. Congenital cardiac disease, immunodeficiency, and severe behavioral problems can affect the surgical outcome following spine fusion and need to be taken into consideration for the surgeon and anesthesiologist. Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS. The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation. PMID:25929900

  13. 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

  14. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  15. [Enzymopathic congenital hyperlactacidemia].

    PubMed

    Leroux, J P; Marsac, C; Saudubray, J M

    1976-01-01

    Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin. PMID:184725

  16. Ultrasonography in Diagnosis of Congenital Absence of the Vas Deferens

    PubMed Central

    Li, Liang; Liang, Chaozhao

    2016-01-01

    Background Congenital absence of the vas deferens is an important cause of obstructive azoospermia, and the lack of an imaging diagnostic test is a critical problem. The aim of this study is to discuss the use of ultrasonography in congenital absence of vas deferens, including dysplasia of the epididymis and the seminal vesical. Material/Methods Five fresh spermatic cord specimens were detected by ultrasonography (US) to evaluate the image of the spermatic cord segment of the vas deferens. Fifty normal males had scrotal US to confirm whether the normal spermatic cord segment of the vas deferens can be detected and to measure the internal and external diameter on the long axis view. Forty-six males clinically diagnosed as having congenital absence of vas deferens underwent scrotal US to evaluate the spermatic cord segment of the vas deferens and the epididymis. The seminal vesicals were detected with transrectal ultrasonography. We evaluated images of the vas deferens, epididymis, and seminal vesical. Results Scrotal ultrasonography can distinguish the vas deferens from the other cord-like structures in the spermatic cord, and the vas deferens has a characteristic image. Scrotal ultrasonography detected all 50 normal males and measured the diameter. No statistically significant difference was found between the left and right measurements. In the 46 patients, the following anomalies were observed: 1) 42 cases of congenital bilateral absence of vas deferens; 2) 2 cases of congenital unilateral absence of the vas deferens; and 3) 1 case of congenital segmental absence of the vas deferens. All 46 cases were accompanied with epididymis and seminal vesical anomalies. Conclusions The spermatic cord segment of the vas deferens can be detected by US, which is a valuable tool in diagnosis of congenital absence of the vas deferens. Seminal vesical and epididymis anomalies often associated with congenital absence of the vas deferens were revealed by ultrasonography. PMID

  17. Gauge anomalies, gravitational anomalies, and superstrings

    SciTech Connect

    Bardeen, W.A.

    1985-08-01

    The structure of gauge and gravitational anomalies will be reviewed. The impact of these anomalies on the construction, consistency, and application of the new superstring theories will be discussed. 25 refs.

  18. Genetic link between renal birth defects and congenital heart disease

    PubMed Central

    San Agustin, Jovenal T.; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A.; Liu, Xiaoqin; Lo, Cecilia W.; Pazour, Gregory J.

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  19. Genetic link between renal birth defects and congenital heart disease.

    PubMed

    San Agustin, Jovenal T; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A; Liu, Xiaoqin; Lo, Cecilia W; Pazour, Gregory J

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  20. ANOMALY STRUCTURE OF SUPERGRAVITY AND ANOMALY CANCELLATION

    SciTech Connect

    Butter, Daniel; Gaillard, Mary K.

    2009-06-10

    We display the full anomaly structure of supergravity, including new D-term contributions to the conformal anomaly. This expression has the super-Weyl and chiral U(1){sub K} transformation properties that are required for implementation of the Green-Schwarz mechanism for anomaly cancellation. We outline the procedure for full anomaly cancellation. Our results have implications for effective supergravity theories from the weakly coupled heterotic string theory.

  1. The elliptic anomaly

    NASA Technical Reports Server (NTRS)

    Janin, G.; Bond, V. R.

    1980-01-01

    An independent variable different from the time for elliptic orbit integration is used. Such a time transformation provides an analytical step-size regulation along the orbit. An intermediate anomaly (an anomaly intermediate between the eccentric and the true anomaly) is suggested for optimum performances. A particular case of an intermediate anomaly (the elliptic anomaly) is defined, and its relation with the other anomalies is developed.

  2. 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

  3. Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d’Ivoire

    PubMed Central

    Kouame, Bertin Dibi; N’guetta-Brou, Isabelle Ama; Kouame, Guy Serge Yapo; Sounkere, Moufidath; Koffi, Maxime; Yaokreh, Jean Baptiste; Odehouri-Koudou, Thierry; Tembely, Samba; Dieth, Gaudens Atafi; Ouattara, Ossenou; Dick, Ruffin

    2015-01-01

    Background: Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d’Ivoire. Materials and Methods: It was a multicentric study of three academic hospitals and the Heart Institute of Abidjan over 10 years. The epidemiologic Data concerned the Parturients, the annual frequency of congenital abnormalities. Distribution of the congenital abnormalities according to the organs, overall mortality and lethality of congenital abnormalities were evaluated. Results: Over 10 years, 1.632 newborns with 1.725 congenital anomalies were recorded. Frequency was 172.5 congenital anomalies per annum. Parturients were less than 35 years in 33% of cases, multigravida in 20%, multiparous in 18% and had a low socio economic status in 96% of cases. Prenatal diagnosis of congenital anomalies was performed in 1.5%. Congenital anomalies were orthopedic in 34%, neurological in 17%, gastrointestinal in 15%, facial in 11.5%, parietal in 13%, urogenital in 9% and cardiac in 0.5% of cases. The overall mortality rate of congenital anomalies was 52% and gastroschisis was the most lethal disease with 100% mortality. Conclusion: This descriptive study reveals the low socio economic status of Parturients with congenital anomalies and their poor prenatal diagnosis. These factors explain the very high mortality of congenital anomalies due to a delay management in our country in which medical expenses were borne by parents and where technical platforms remain obsoletes for good resuscitation and neonatal surgery. PMID:25659551

  4. Global anomalies and effective field theory

    NASA Astrophysics Data System (ADS)

    Golkar, Siavash; Sethi, Savdeep

    2016-05-01

    We show that matching anomalies under large gauge transformations and large diffeomorphisms can explain the appearance and non-renormalization of couplings in effective field theory. We focus on thermal effective field theory, where we argue that the appearance of certain unusual Chern-Simons couplings is a consequence of global anomalies. As an example, we show that a mixed global anomaly in four dimensions fixes the chiral vortical effect coefficient (up to an overall additive factor). This is an experimentally measurable prediction from a global anomaly. For certain situations, we propose a simpler method for calculating global anomalies which uses correlation functions rather than eta invariants.

  5. Comparison of diagnostic accuracy of dual-source CT and conventional angiography in detecting congenital heart diseases

    PubMed Central

    Sedaghat, Fariborz; Pouraliakbar, Hamidreza; Motevalli, Marzieh; Karimi, Mohammad Ali; Armand, Sandbad

    2014-01-01

    Summary Background Cardiac dual-source computed tomography (DSCT) is primarily used for coronary arteries. There are limited studies about the application of DSCT for congenital heart diseases. The aim of this study was to determine the diagnostic value of DSCT in the cardiac anomalies. Material/Methods The images of DSCTs and conventional angiographies of 36 patients (21 male; mean age: 8.5 month) with congenital heart diseases were reviewed and the parameters of diagnostic value of these methods were compared. Cardiac surgery was the gold standard. Results A total of 105 cardiac anomalies were diagnosed at surgery. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of DSCT were 98.25%, 97.9%, 98.1%, 99.07%, and 98.2%, respectively. The corresponding values of angiography were 95.04%, 98.7%, 97.8%, 98.1%, and 98%, respectively. Only one atrial septal defect (ASD) and two patent ductus arteriosus (PDA) were missed by DSCT. Angiography missed two ASD and two PDA. DSCT also provided important additional findings (n=35) about the intrathoracic or intraabdominal organs. Conclusions DSCT is a highly accurate diagnostic modality for congenital heart diseases, obviating the need for invasive modalities. Beside its noninvasive nature, the advantage of DSCT over the angiography is its ability to provide detailed anatomical information about the heart, vessels, lungs and intraabdominal organs. PMID:24987488

  6. Congenital solitary kidney with multiple renal arteries: case report using MDCT angiography.

    PubMed

    Matusz, Petru; Miclăuş, Graţian Dragoslav; Banciu, Christian Dragoş; Sas, Ioan; Joseph, Shamfa C; Pirtea, Laurenţiu Cornel; Tubbs, R Shane; Loukas, Marios

    2015-01-01

    A congenital solitary kidney with multiple renal arteries is a rare congenital abnormality that can occur in the presence of multiple other anomalies. We describe an atypical case of a right congenital solitary kidney with three renal arteries (RA) one main RA and two additional renal arteries in a 75-year-old woman with uterine didelphys. The main RA had an intraluminal diameter larger than the diameter of the additional renal arteries (AdRAs) at the origin (0.53 cm for the main RA; 0.49 cm and 0.32 cm for the two AdRAs). Both the AdRAs had a greater length than the main RA (3.51 cm for the main RA; 3.70 cm and 4.77 cm for the two AdRAs). The calculated volume of the kidney was 283 cm³, while the volume of the renal parenchyma was 258 cm³. Knowledge of this variant is extremely important in clinical practice as it has been found to be associated with proteinuria, hypertension and renal insufficiency. PMID:26429179

  7. Concomitant slide tracheoplasty and cardiac operation for congenital tracheal stenosis associated with VACTERL.

    PubMed

    Wu, En-Ting; Wang, Ching-Chia; Lin, Ming-Tai; Huang, Pei-Ming; Chen, Shyh-Jye; Huang, Chi-Hsiang; Hwang, Haw-Kwei; Chen, Ming-Ren; Huang, Shu-Chien

    2013-10-01

    The association of congenital tracheal stenosis and tracheoesophageal (TE) fistula is rare. Here, we report 2 patients with tracheobronchial stenosis (complete cartilage ring) involving the lower trachea and right bronchus. Both patients had associated VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, TE, renal, and limb defects) congenital cardiac defects and tracheal diverticula after repair of the TE fistula in type C esophageal atresia. The stenotic segment began at the orifice of the TE fistula, which became diverticula after the TE fistula was repaired. Concomitant repair of congenital cardiac defects and a slide tracheoplasty with elimination of the diverticula were performed successfully. PMID:24088476

  8. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  9. Congenital Chagas disease: an update

    PubMed Central

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-01-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi. PMID:25760448

  10. Congenital aganglionosis in a 3-day-old Holstein calf

    PubMed Central

    2005-01-01

    Abstract Necropsy of a 3-day-old Holstein heifer revealed proximal megacolon and distal colorectal hypoplasia. Histologically, the hypoplastic distal colon and rectum lacked submucosal and myenteric ganglia. Clinical history, physical examination, and pathologic findings were consistent with intestinal aganglionosis, a congenital anomaly well documented in humans and foals but not previously reported in cattle. PMID:15943121

  11. Basic imaging in congenital heart disease. 3rd Ed

    SciTech Connect

    Swischuk, L.E.; Sapire, D.W.

    1986-01-01

    The book retains its previous format with chapters on embryology, plain film interpretation, classification of pulmonary vascular patterns, cardiac malpositions and vascular anomalies, and illustrative cases. The book is organized with an abundance of illustrative figures, diagrams, and image reproductions. These include plain chest radiographs, angiograms, echocardiograms, and MR images. The authors present the pathophysiology and imaging of congenital heart lesions.

  12. Congenital Syndromes and Mildly Handicapped Students: Implications for Special Educators.

    ERIC Educational Resources Information Center

    Smith, Sandra M.

    1989-01-01

    Many learning disabilities or cases of mild retardation are due to medically diagnosable, congenital syndromes, such as fetal alcohol syndrome, sex chromosome abnormalities, multiple anomaly syndromes, phenylketonuria, and Tourette Syndrome. These syndromes are discussed, and suggestions are given for special education management. (Author/JDD)

  13. 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

  14. Magnetic resonance imaging in obstructive Müllerian anomalies.

    PubMed

    Sen, Kamal Kumar; Balasubramaniam, Dhivya; Kanagaraj, Vikrant

    2013-04-01

    Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract involving Müllerian ducts and Wolffian structures. It is characterized by the triad of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis. Magnetic resonance imaging (MRI) is a sensitive, non-invasive diagnostic modality for demonstrating anatomic variation and associated complications. PMID:24082660

  15. Magnetic resonance imaging in obstructive Müllerian anomalies

    PubMed Central

    Sen, Kamal Kumar; Balasubramaniam, Dhivya; Kanagaraj, Vikrant

    2013-01-01

    Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract involving Müllerian ducts and Wolffian structures. It is characterized by the triad of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis. Magnetic resonance imaging (MRI) is a sensitive, non-invasive diagnostic modality for demonstrating anatomic variation and associated complications. PMID:24082660

  16. Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome.

    PubMed

    Takci, S; Yigit, S; Haliloglu, M; Boduroglu, K; Kiper, N

    2013-01-01

    Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities and other genetic disorders such as Oculo-auriculo-vertebral spectrum, VACTERL association and velo-cardio-facial syndrome. This report presents a patient with pulmonary agenesis, pulmonary sling anomaly and Down syndrome. PMID:24341150

  17. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  18. 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

  19. Ebstein's Anomaly, Left Ventricular Noncompaction, and Sudden Cardiac Death.

    PubMed

    McGee, Michael; Warner, Luke; Collins, Nicholas

    2015-01-01

    Ebstein's anomaly is a congenital disorder characterized by apical displacement of the septal leaflet of the tricuspid valve. Ebstein's anomaly may be seen in association with other cardiac conditions, including patent foramen ovale, atrial septal defect, and left ventricular noncompaction (LVNC). LVNC is characterized by increased trabeculation within the left ventricular apex. Echocardiography is often used to diagnose LVNC; however, magnetic resonance (MR) imaging offers superior characterization of the myocardium. We report a case of sudden cardiac death in a patient with Ebstein's anomaly with unrecognized LVNC noted on post mortem examination with screening documenting the presence of LVNC in one of the patient's twin sons. PMID:26240764

  20. Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation.

    PubMed

    Philip, Saji; Bharati, Sarasa; Cherian, Kottureth Mammen; Bharati, Saroja

    2016-03-01

    Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old woman who presented at 20 weeks' of gestation. A diagnosis of Uhl anomaly was made. An autopsy was performed at 23weeks gestation after obtaining permission for medicolegal termination of pregnancy. Histopathological examination confirmed the diagnosis. Diagnosing Uhl anomaly in fetal life is essential since mortality and survival mainly depend on the severity of right ventricle dysfunction related to, the either partial or complete absence of the myocardium. Hence, surviving cases need to be followed up carefully and counselled accordingly. PMID:26929879

  1. Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation

    PubMed Central

    Philip, Saji; Bharati, Sarasa; Cherian, Kottureth Mammen; Bharati, Saroja

    2015-01-01

    Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old woman who presented at 20 weeks' of gestation. A diagnosis of Uhl anomaly was made. An autopsy was performed at 23weeks gestation after obtaining permission for medicolegal termination of pregnancy. Histopathological examination confirmed the diagnosis. Diagnosing Uhl anomaly in fetal life is essential since mortality and survival mainly depend on the severity of right ventricle dysfunction related to, the either partial or complete absence of the myocardium. Hence, surviving cases need to be followed up carefully and counselled accordingly. PMID:26929879

  2. 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

  3. Rarely Seen Nasal Congenital Problems Causing Neonatal Upper Respiratory Obstruction: A Case Series

    PubMed Central

    Başal, Yeşim; Akcan, Abdullah Bariş; Polat, Yasemin Durum; Günel, Ceren; Eryilmaz, Aylin; Başak, Sema

    2016-01-01

    Since newborns are obligatory nasal breathers, upper respiratory tract problems may sometimes be life threatening. The most common pathology causing dyspnea and stridor in newborns is laryngomalacia. Nasal cavity pathologies that risk the neonatal airway are more rarely met. These anomalies may be seen either as solitary anomalies or as a part of a syndrome. While choanal atresia is one of the best-known nasal cavity anomalies, choanal stenosis, congenital nasal mid-line masses, congenital nasal pyriform aperture stenosis, and nasal tip anomalies are more rarely seen structural pathologies. Choanal atresia may be present either as an isolated congenital anomaly or as a part of CHARGE syndrome. Some rare chromosome anomalies may also cause significant problems during nasal respiration in newborns. With this study, we presented a case series of newborns with pathologies that affected nasal respiration. Although the diagnosis and treatment of choanal atresia and congenital dacryocystocele are well known, the information on the diagnosis and treatment of the other two uncommon cases are limited. With this study, we aimed to contribute to the literature by presenting our approach in six cases having congenital pathologies that cause nasal respiratory obstruction. PMID:27114819

  4. Digenic mutations in severe congenital neutropenia

    PubMed Central

    Germeshausen, Manuela; Zeidler, Cornelia; Stuhrmann, Manfred; Lanciotti, Marina; Ballmaier, Matthias; Welte, Karl

    2010-01-01

    Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigenetic influences on the disease phenotype. We describe congenital neutropenia patients with mutations in two candidate genes each, including 6 novel mutations. Two of them had a heterozygous ELANE mutation combined with a homozygous mutation in G6PC3 or HAX1, respectively. The other 2 patients combined homozygous or compound heterozygous mutations in G6PC3 or HAX1 with a heterozygous mutation in the respective other gene. Our results suggest that digenicity may underlie this disorder of myelopoiesis at least in some congenital neutropenia patients. PMID:20220065

  5. Genetics of Nonsyndromic Congenital Hearing Loss.

    PubMed

    Egilmez, Oguz Kadir; Kalcioglu, M Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  6. Genetics of Nonsyndromic Congenital Hearing Loss

    PubMed Central

    Egilmez, Oguz Kadir; Kalcioglu, M. Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  7. Prevalence of Associated Anomalies in Cleft Lip and/or Palate Patients

    PubMed Central

    Abdollahi Fakhim, Shahin; Shahidi, Nikzad; Lotfi, Alireza

    2016-01-01

    Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnostic procedure used. In this study we determined the prevalence of associated anomalies in patients with a cleft lip and/or palate, with a specific focus on cardiac anomalies. Materials and Methods: In this cross-sectional study, 526 patients with a cleft lip and /or palate admitted to the children’s referral hospital between 2006 and 2011 were evaluated. All associated anomalies were detected and recorded. Patient information collected included age, gender, type and side of cleft, craniofacial anomalies and presence of other anomalies, including cardiac anomalies. Data were analyzed using SPSS version 16. Results: Of the 526 patients enrolled in the study, 58% (305) were male and 42% (221) were female. In total, 75% of patients (396) were aged between 4 and 8 years and 25% (130) were aged less than 4 years. The most common cleft type in our study was bilateral cleft palate. The most commonly associated anomaly among cleft patients, in 12% of cleft patients, was a cardiac anomaly. The most common cardiac anomaly was atrial septal defect (ASD). Conclusion: The prevalence of associated anomalies among orofacial cleft patients is high. The most common associated anomaly is cardiac anomaly, with ASD being the most common cardiac anomaly. There are no significant relationships between type of cleft and associated cardiac anomalies. PMID:27280100

  8. Overgrowth syndromes with vascular anomalies.

    PubMed

    Blei, Francine

    2015-04-01

    Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations. PMID:25937473

  9. Giant congenital nevus

    MedlinePlus

    A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... A nevus will appear as a dark-colored patch with any of the ... Hair Regular or uneven borders Smaller affected areas near the ...

  10. Congenital CMV Infection

    MedlinePlus

    ... CMV Babies Born with CMV (Congenital CMV Infection) Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Detection and Intervention Helping Children With Congenital CMV Language: English Español (Spanish) File Formats Help: How do I ...

  11. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  12. Congenital lobar emphysema: Pitfalls in diagnosis.

    PubMed

    Chinya, Abhishek; Pandey, Prince Raj; Sinha, Shandip Kumar; Sarin, Yogesh Kumar

    2016-01-01

    Congenital lobar emphysema (CLE) is a rare but life-threatening congenital anomaly leading to respiratory distress in early childhood. Diagnosis requires a strong clinical suspicion. We report a case of a 31/2-month-old infant who was initially diagnosed with pneumonia requiring multiple hospital admissions. After computed tomography of the thorax, a diagnosis on CLE was made. The child was planned for surgery in the next available routine operation theatre. However, suddenly in the evening, she developed respiratory distress and needed emergency surgical intervention. The child improved dramatically after surgery, and the postoperative period was uneventful. Early diagnosis and treatment in such cases can lead to dramatic results. PMID:27185998

  13. Congenital lobar emphysema: Pitfalls in diagnosis

    PubMed Central

    Chinya, Abhishek; Pandey, Prince Raj; Sinha, Shandip Kumar; Sarin, Yogesh Kumar

    2016-01-01

    Congenital lobar emphysema (CLE) is a rare but life-threatening congenital anomaly leading to respiratory distress in early childhood. Diagnosis requires a strong clinical suspicion. We report a case of a 31/2-month-old infant who was initially diagnosed with pneumonia requiring multiple hospital admissions. After computed tomography of the thorax, a diagnosis on CLE was made. The child was planned for surgery in the next available routine operation theatre. However, suddenly in the evening, she developed respiratory distress and needed emergency surgical intervention. The child improved dramatically after surgery, and the postoperative period was uneventful. Early diagnosis and treatment in such cases can lead to dramatic results. PMID:27185998

  14. Congenital amusia in childhood: a case study.

    PubMed

    Lebrun, Marie-Andrée; Moreau, Patricia; McNally-Gagnon, Andréane; Mignault Goulet, Geneviève; Peretz, Isabelle

    2012-06-01

    Here we describe the first documented case of congenital amusia in childhood. AS is a 10-year-old girl who was referred to us by her choir director for persisting difficulties in singing. We tested her with the child version of the Montreal Battery for the Evaluation of Amusia (MBEA) which confirmed AS's severe problems with melodic and rhythmic discrimination and memory for melodies. The disorder appears to be limited to music since her audiometry as well as her intellectual and language skills are normal. Furthermore, the musical disorder is associated to a severe deficit in detecting small pitch changes. The electrical brain responses point to an anomaly in the early stages of auditory processing, such as reflected by an abnormal mismatch negativity (MMN) response to small pitch changes. In singing, AS makes more pitch than time errors. Thus, despite frequent and regular musical practice, AS's profile is similar to the adult form of congenital amusia. PMID:21453912

  15. Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

    PubMed Central

    Sabry, M A; al-Saleh, Q; al-Saw'an, R; al-Awadi, S A; Farag, T I

    1995-01-01

    A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed. Images PMID:7562971

  16. [Congenital ranula in a newborn].

    PubMed

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases. PMID:16770600

  17. Experimental Anomalies in Neutrino Physics

    NASA Astrophysics Data System (ADS)

    Palamara, Ornella

    2014-03-01

    In recent years, experimental anomalies ranging in significance (2.8-3.8 σ) have been reported from a variety of experiments studying neutrinos over baselines less than 1 km. Results from the LSND and MiniBooNE short-baseline νe /νe appearance experiments show anomalies which cannot be described by oscillations between the three standard model neutrinos (the ``LSND anomaly''). In addition, a re-analysis of the anti-neutrino flux produced by nuclear power reactors has led to an apparent deficit in νe event rates in a number of reactor experiments (the ``reactor anomaly''). Similarly, calibration runs using 51Cr and 37Ar radioactive sources in the Gallium solar neutrino experiments GALLEX and SAGE have shown an unexplained deficit in the electron neutrino event rate over very short distances (the ``Gallium anomaly''). The puzzling results from these experiments, which together may suggest the existence of physics beyond the Standard Model and hint at exciting new physics, including the possibility of additional low-mass sterile neutrino states, have raised the interest in the community for new experimental efforts that could eventually solve this puzzle. Definitive evidence for sterile neutrinos would be a revolutionary discovery, with implications for particle physics as well as cosmology. Proposals to address these signals by employing accelerator, reactor and radioactive source experiments are in the planning stages or underway worldwide. In this talk some of these will be reviewed, with emphasis on the accelerator programs.

  18. Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.

    PubMed Central

    Aughton, D J; Sloan, C T; Milad, M P; Huang, T E; Michael, C; Harper, C

    1990-01-01

    Nasopharyngeal teratomas are rare and are infrequently associated with extra-oral malformations. The case of a premature female infant with multiple congenital anomalies, including nasopharyngeal teratoma, Dandy-Walker malformation, diaphragmatic hernia, and congenital heart defect, is presented. This constellation of malformations does not appear to have been reported previously. Images PMID:2074566

  19. Management of adolescents with congenital adrenal hyperplasia

    PubMed Central

    Merke, Deborah P; Poppas, Dix P

    2014-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. PMID:24622419

  20. Lymphatic Anomalies Registry

    ClinicalTrials.gov

    2016-07-26

    Lymphatic Malformation; Generalized Lymphatic Anomaly (GLA); Central Conducting Lymphatic Anomaly; CLOVES Syndrome; Gorham-Stout Disease ("Disappearing Bone Disease"); Blue Rubber Bleb Nevus Syndrome; Kaposiform Lymphangiomatosis; Kaposiform Hemangioendothelioma/Tufted Angioma; Klippel-Trenaunay Syndrome; Lymphangiomatosis

  1. Chromium isotopic anomalies in the Murchison meteorite

    NASA Astrophysics Data System (ADS)

    Esat, T. M.; Ireland, T. R.

    1989-02-01

    The abundances of chromium isotopes, in refractory inclusions from the Allende meteorite, show wide-spread anomalies. The chromium isotope anomalies are similar in pattern to the anomalies discovered in Ca and Ti. The largest effects occur at the neutron-rich isotopes Ca-48, Ti-50 and Cr-54. Individual Cr-rich pink spinels, from the Murchison meteorite, exhibit large and variable excesses in Cr-53 and Cr-54 including the largest Cr-53 anomaly so far reported. Magnesium isotopes, in Murchison Cr-poor blue spinels, also show variable anomalies in Mg-26 including mass-dependent fractionation favoring the lighter isotopes. The Cr-53, Cr-54 and Mg-26 anomalies in Murchison spinels are indicative of a heterogeneous distribution of magnesium and chromium isotopes in the early solar nebula and require a contribution from several nucleosynthetic components in addition to physicochemical processing.

  2. FastStats: Birth Defects or Congenital Anomalies

    MedlinePlus

    ... Address What's this? Submit What's this? Submit Button File Formats Help: How do I view different file formats (PDF, DOC, PPT, MPEG) on this site? Adobe PDF file Microsoft PowerPoint file Microsoft Word file Microsoft Excel ...

  3. 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

  4. Anomalies of left coronary artery origin affecting surgical repair of hypoplastic left heart syndrome and Shone complex.

    PubMed

    Saroli, Tania; Gelehrter, Sarah; Gomez-Fifer, Carlen A; van der Velde, Mary E; Bove, Edward L; Ensing, Gregory J

    2008-08-01

    There has traditionally been less concern regarding coronary anomalies with left-sided congenital heart lesions such as hypoplastic left heart syndrome (HLHS)or Shone complex than with other lesions. However, coronary anomalies in this setting can profoundly affect surgical intervention, particularly when surgical repair involves the ascending aorta. We describe four patients with congenital left-sided heart lesions in which left coronary artery (LCA) anomalies substantially affected intervention and outcome. In the first two cases, the coronary anomalies were not identified prospectively and resulted in surgical injury directly to the coronary or to its surrounding region. In the latter two cases, successful identification of the coronary anomaly preoperatively allowed for modification of surgical technique and/or intervention. We conclude that detailed coronary artery assessment should be part of the routine echocardiographic evaluation of congenital left-sided heart lesions that require surgery. PMID:18445061

  5. Congenital myasthenia gravis.

    PubMed

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  6. [Congenital defects of tibia and fibula].

    PubMed

    de Meulemeester, F R; Verbout, A J

    1988-12-01

    This study comprised 7 patients with longitudinal anomalies of the knee and leg classified in accordance with the 'classification of congenital limb deficiencies' introduced by Frantz and O'Rahilly. The anomalies were paraxial hemimelia of the fibula (4 instances), paraxial hemimelia of the tibia (6 instances). In the absence of the proximal tibia, therapy consisted of knee reconstruction according to Brown. In the absence of the distal part of the tibia a proximal tibiofibular synostosis was performed. In one instance corrective osteotomy of the tibia was required in the absence of the fibula. Exarticulation according to Syme was resorted in order to cope with an incorrigible abnormal position of the foot and for leg length inequality. The therapy should aim at giving the child walking ability at a normal time. Exarticulation has to be preferred to amputation in the treatment of these patients. PMID:3238675

  7. Isolated congenital tracheal stenosis in a preterm newborn.

    PubMed

    Krause, Ulrich; Rödel, Ralph M W; Paul, Thomas

    2011-09-01

    Severe tracheal stenosis, resulting in functional atresia of the trachea is a rare congenital malformation with an estimated occurrence of two in 100,000 newborns. If no esophagotracheal fistula is present to allow for spontaneous breathing, this condition is usually fatal. We report on a male infant born at 32 weeks of gestation. The patient presented with respiratory distress immediately after delivery due to severe congenital tracheal stenosis resulting in functional atresia of the trachea. Endotracheal intubation failed and even emergency tracheotomy did not allow ventilation of the patient lungs. The patient finally succumbed to prolonged hypoxia due to functional tracheal atresia. The etiology of tracheal atresia and tracheal stenosis is still unclear, but both conditions are frequently combined with other anomalies of the VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal/radial anomalies and limb defects) and TACRD (tracheal agenesis, cardiac, renal and duodenal malformations) association. Conclusion Successful treatment of severe congenital tracheal stenosis and tracheal atresia depends on either prenatal diagnosis or recognition of this condition immediately after birth to perform tracheotomy without delay. Nevertheless, despite any efforts, the therapeutical results of severe tracheal stenosis and tracheal atresia are still unsatisfactory. PMID:21590265

  8. Prenatal diagnosis of congenital renal and urinary tract malformations.

    PubMed

    Hindryckx, A; De Catte, L

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified -malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and -requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through-out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

  9. Congenital defects in northern elephant seals stranded along the central California coast.

    PubMed

    Trupkiewicz, J G; Gulland, F M; Lowenstine, L J

    1997-04-01

    Eleven cases of congenital anomalies were identified in 210 (5%) juvenile northern elephant seals (Mirounga angustirostris) found stranded along the central California (USA) coast from 1 January 1988 to 31 December 1995. Seven individuals had mild-to-moderate hydrocephalus involving the lateral ventricles bilaterally, or the lateral and third ventricles. Two animals had severe cardiac anomalies: hypoplasia of the right ventricle with overriding aorta, and ventricular septal defect. Other anomalies included single cases of hydronephrosis, focal pulmonary dysplasia, and congenital epidermal angiomatosis. Common intercurrent disease processes were verminous pneumonia and arteritis, verminous enteritis and coliti, and splenic and hepatic hemosiderosis. The more severe anomalies were considered to be the cause of debilitation and stranding. Milder anomalies were found incidentally during routine gross necropsy and histopathologic examination. PMID:9131551

  10. Congenital heart disease

    MedlinePlus

    ... about genetic counseling and screening if you have a family history of cogenital heart disease. ... Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  11. Adult Congenital Heart Association

    MedlinePlus

    ... survivable, manageable, yet in the routine years between infancy and adulthood, sometimes forgettable. The Adult Congenital Heart ... understand the continuum of the disease from its infancy. The Adult Congential Heart Association brings together valuable ...

  12. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  13. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

    PubMed Central

    Tennstedt, C; Chaoui, R; Korner, H; Dietel, M

    1999-01-01

    OBJECTIVE—To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy.
MATERIAL—Necropsies were performed on 815 fetuses—448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)—during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed.
RESULTS—Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%).
CONCLUSIONS—Fetal congenital heart malformations are common. These defects are often

  14. [Congenital heart defects in adulthood : Supraventricular tachycardia].

    PubMed

    Hebe, J

    2016-06-01

    Supraventricular tachycardia (SVT) based on congenital substrates, such as accessory pathways or dual atrioventricular nodal properties, occur with an increased probability linked to specific congenital heart defects (CHDs). In the literature, the association of Ebstein's anomaly with accessory pathways and with Mahaim fibers is most prominent. Compared with patients with otherwise normal hearts, the clinical relevance of SVT is typically more severe and therefore antiarrhythmia treatment is a necessity in many cases. Diagnostics, pharmaceutical treatment, and interventional therapy of SVT in patients with CHD are often demanding owing to anatomical, hemodynamic, and electro-anatomical peculiarities. The use of antiarrhythmic medication is often limited because of intolerable side effects and a lack of reliability in suppressing arrhythmia relapses in the long term. Within the last 15-20 years catheter ablation has thus become established as the first-choice treatment for SVT, even in patients with CHD. However, rates of success, recurrence, and risks are still inferior to those observed in patients with a normally functioning heart owing to the co-existence of vascular and cardiac anomalies, surgically created alterations, an unusual electro-anatomy, and lower tolerance to hemodynamic changes. Successful treatment in patients with CHDs and SVT requires a deep understanding and knowledge of all the disciplines discussed above and should only be practiced in dedicated centers, as patient numbers are small and therefore experience is limited. PMID:27225166

  15. Anesthetic management of congenital epulis in neonate

    PubMed Central

    Krishna, Rohith; Shenoy, Thrivikram; Nataraj, Madagondapalli Srinivasan

    2012-01-01

    The most common cause of difficult intubation in pediatrics is due to congenital anomalies of airway. We report a case of neonate with congenital epulis (CE) who presented with a difficult airway. A 7-day old neonate weighted 3.2 kg with a large mass occupying the oral cavity that was diagnosed as congenital epulis was scheduled for excision biopsy. The mass was large, mobile, and moving in and out with no clear pedicle. An intravenous line was inserted and secured. The airway was then assessed while the patient was awake and an assistant displaced the mass and a laryngoscope was placed to visualize the larynx easily. After preoxygenation, inhalation induction of anesthesia was accomplished using sevoflurane in oxygen. Endotracheal intubation was performed with conventional laryngoscopy. The baby made uneventful recovery after the surgical procedure. In conclusion, epulis presents a real challenge to anesthesiologists. It can be excised either under local or general anesthesia, depending on the size of its pedicle. If done under general anesthesia, assessment of the airway is mandatory for better airway management and safe endotracheal intubation. PMID:25885516

  16. A rare presentation of a child with osteogenesis imperfecta and congenital laryngomalacia for herniotomy

    PubMed Central

    Chandran, Roshith; Dave, Nandini; Padvi, Amit; Garasia, Madhu

    2011-01-01

    Sometimes anaesthesiologists come across rare congenital anomalies in their practice. The inherent complications associated with the disorder necessitate tailor-made approaches for providing anaesthesia to even seemingly simple surgical interventions. Here, we share our experience of anaesthesia management of an infant with congenital laryngomalacia and recently diagnosed osteogenesis imperfecta type 1 who had presented to us with an acute abdomen for a semi-emergency herniotomy. PMID:22174477

  17. A rare presentation of a child with osteogenesis imperfecta and congenital laryngomalacia for herniotomy.

    PubMed

    Chandran, Roshith; Dave, Nandini; Padvi, Amit; Garasia, Madhu

    2011-09-01

    Sometimes anaesthesiologists come across rare congenital anomalies in their practice. The inherent complications associated with the disorder necessitate tailor-made approaches for providing anaesthesia to even seemingly simple surgical interventions. Here, we share our experience of anaesthesia management of an infant with congenital laryngomalacia and recently diagnosed osteogenesis imperfecta type 1 who had presented to us with an acute abdomen for a semi-emergency herniotomy. PMID:22174477

  18. Familial occurrence of congenital incomplete prepyloric mucosal diaphragm.

    PubMed Central

    Gahukamble, D B

    1998-01-01

    Incomplete prepyloric mucosal diaphragm (IPMD) is an uncommon congenital anomaly that leads to gastric outlet obstruction in infancy and childhood. This report describes the occurrence of IPMD in six children in a closely knit tribal family from a geographically isolated desert town with a small population in the Sahara. Their records showed similarities of clinical, radiological, operative, and histopathological features. These features, as well as its occurrence in brothers, sisters, and cousins, suggest that this unusual anomaly is transmitted as an autosomal recessive trait. Images PMID:9863605

  19. Distribution of branchial anomalies in a paediatric Asian population

    PubMed Central

    Teo, Neville Wei Yang; Ibrahim, Shahrul Izham; Tan, Kun Kiaang Henry

    2015-01-01

    INTRODUCTION The objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies. METHODS This was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results. Branchial anomalies were classified based on the results of the review. RESULTS A total of 28 children underwent surgery for 30 branchial anomalies during the review period. Two children had bilateral branchial anomalies requiring excision. Of the 30 branchial anomalies, 7 (23.3%) were first branchial anomalies, 5 (16.7%) were second branchial anomalies, 3 (10.0%) were third branchial anomalies, and 4 (13.3%) were fourth branchial anomalies (one of the four patients with fourth branchial anomalies had bilateral branchial anomalies). In addition, seven children had 8 (26.7%) branchial anomalies that were thought to originate from the pyriform sinus; however, we were unable to determine if these anomalies were from the third or fourth branchial arches. There was inadequate information on the remaining 3 (10.0%) branchial anomalies for classification. CONCLUSION The incidence of second branchial anomalies appears to be lower in our Asian paediatric population, while that of third and fourth branchial anomalies was higher. Knowledge of embryology and the related anatomy of the branchial apparatus is crucial in the identification of the type of branchial anomaly. PMID:25917471

  20. Quadricuspid Aortic Valve: A Rare Congenital Cause of Aortic Insufficiency

    PubMed Central

    Vasudev, Rahul; Shah, Priyank; Bikkina, Mahesh; Shamoon, Fayez

    2016-01-01

    Quadricuspid aortic valve (QAV) is a rare congenital cardiac anomaly causing aortic regurgitation usually in the fifth to sixth decade of life. Earlier, the diagnosis was mostly during postmortem or intraoperative, but now with the advent of better imaging techniques such as transthoracic echocardiography, transesophageal echocardiography (TEE), and cardiac magnetic resonance imaging, more cases are being diagnosed in asymptomatic patients. We present a case of a 39-year-old male who was found to have QAV, with the help of TEE, while undergoing evaluation for a diastolic murmur. The patient was found to have Type B QAV with moderate aortic regurgitation. We also present a brief review of classification, pathophysiology, and embryological basis of this rare congenital anomaly. The importance of diagnosing QAV lies in the fact that majority of these patients will require surgery for aortic regurgitation and close follow-up so that aortic valve replacement/repair is done before the left ventricular decompensation occurs. PMID:27195176

  1. [Kimmerle's anomaly and stroke].

    PubMed

    Barsukov, S F; Antonov, G I

    1992-10-01

    The anomaly of cranio-vertebral area can frequently be the reason of acute cerebrovascular disorders in vertebro-basilar field. The frequent C1 pathology in the Kimmerle's anomaly. The anatomic studies has shown that 30% of people had this type of anomaly. This pathology can lead to severe vascular diseases of cerebrum because of the squeezing effect upon vertebral arteries in the zone of osteal ponticulus of the rear arch of atlas. PMID:1481402

  2. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract. PMID:27043388

  3. Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases

    PubMed Central

    Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K

    2012-01-01

    Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings. PMID:23373038

  4. Nolen-Schiffer anomaly

    SciTech Connect

    Pieper, S.C.; Wiringa, R.B.

    1995-08-01

    The Argonne v{sub 18} potential contains a detailed treatment of the pp, pn and nn electromagnetic potential, including Coulomb, vacuum polarization, Darwin Foldy and magnetic moment terms, all with suitable form factors and was fit to pp and pn data using the appropriate nuclear masses. In addition, it contains a nuclear charge-symmetry breaking (CSB) term adjusted to reproduce the difference in the experimental pp and nn scattering lengths. We have used these potential terms to compute differences in the binding energies of mirror isospin-1/2 nuclei (Nolen-Schiffer [NS] anomaly). Variational Monte Carlo calculations for the {sup 3}He-{sup 3}H system and cluster variational Monte Carlo for the {sup 15}O-{sup 15}N and {sup 17}F-{sup 17}O systems were made. In the first case, the best variational wave function for the A = 3 nuclei was used. However, because our {sup 16}O wave function does not reproduce accurately the {sup 16}O rms radius, to which the NS anomaly is very sensitive, we adjusted the A = 15 and A = 17 wave functions to reproduce the experimental density profiles. Our computed energy differences for these three systems are 0.757 {plus_minus} .001, 3.544 {plus_minus} .018 and 3.458 {plus_minus} .040 MeV respectively, which are to be compared with the experimental differences of 0.764, 3.537, and 3.544 MeV. Most of the theoretical uncertainties are due to uncertainties in the experimental rms radii. The nuclear CSB potential contributes 0.066, 0.188, and 0.090 MeV to these totals. We also attempted calculations for A = 39 and A = 41. However, in these cases, the experimental uncertainties in the rms radius make it impossible to extract useful information about the contribution of the nuclear CSB potential.

  5. PHACE syndrome and congenitally absent thyroid gland at MR imaging.

    PubMed

    Mamlouk, Mark D; Yu, John-Paul J; Asch, Sarah; Mathes, Erin F

    2016-01-01

    PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging. PMID:26995578

  6. 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

  7. 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

  8. Current Concepts in the Management of Congenital Diaphragmatic Hernia in Infants.

    PubMed

    Kumar, Vasanth H S

    2015-08-01

    The therapeutic approach to congenital diaphragmatic hernia (CDH) has shifted from one of immediate repair to management of pulmonary hypertension, physiologic stabilization, and delayed surgical repair. Lung hypoplasia, remodeled pulmonary vasculature, and ventricular dysfunction all contribute to the high morbidity and mortality associated with CDH. In addition, genetic syndromes associated with CDH can increase the incidence of serious anomalies and hence impact survival. Prenatal and postnatal management of infants with CDH is challenging in the best of circumstances and need multidisciplinary teams for optimal outcomes. However, advances using ultrasound and fetal MRI can predict prognosis and survival and plan for postnatal management. Survival rates for patients with CDH have increased for the past decade with better management at resuscitation; implementation of gentle ventilation strategies; and medical management of pulmonary hypertension, physiologic stabilization, and extracorporeal membrane oxygenation. However, follow-up of these infants for long-term morbidities is essential for optimal outcomes after discharge. PMID:26702239

  9. Thymus Transplantation in Complete DiGeorge Anomaly

    PubMed Central

    Markert, M. Louise; Devlin, Blythe H.; Chinn, Ivan; McCarthy, Elizabeth A.

    2016-01-01

    Complete DiGeorge anomaly is characterized by athymia, congenital heart disease and hypoparathyroidism. This congenital disease is fatal by age 2 years unless immune reconstitution is successful. There are multiple underlying syndromes associated with complete DiGeorge anomaly including 22q11 hemizygosity in approximately 50%, CHARGE association in approximately 25%, and diabetic embryopathy in approximately 15%. Approximately one third of patients present with rash and lymphadenopathy associated with oligoclonal “host” T cells. This condition resembles Omenn syndrome. Immunosuppression is necessary to control the oligoclonal T cells. The results of thymus transplantation are reported for a series of 50 patients, 36 of whom survive. The survivors develop naïve T cells and a diverse T cell repertoire. PMID:19066739

  10. Adults with Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Web Booklet: Adults With Congenital Heart Defects Updated:Apr ... topic from the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: ...

  11. Congenital heart defect - corrective surgery

    MedlinePlus

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm ... 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/ ...

  12. Impact of Congenital Heart Defects

    MedlinePlus

    ... complex lesions, limitations are common. Some children with congenital heart disease have developmental delay or other learning difficulties. What ... defects? Successful treatment requires highly specialized care. Severe congenital heart disease requires extensive financial resources both in and out ...

  13. Congenital tracheobronchial stenosis.

    PubMed

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. PMID:27301600

  14. Differential Protein Expression in Congenital and Acquired Cholesteatomas

    PubMed Central

    Kim, Sung Huhn; Choi, Jae Young

    2015-01-01

    Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D) electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS) to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5–3), plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5–3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5–3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins may differ

  15. Headache in a Patient with Complex Congenital Heart Disease: Diagnostic and Therapeutic Considerations.

    PubMed

    Ahmad, Waheed; Miteff, Ferdi; Collins, Nicholas

    2015-11-01

    Headache in adult patients with congenital heart disease may be a manifestation of the underlying cardiac condition or more common alternative causes of headache. In patients with pre-existing congenital heart disease, consideration of potentially uncommon aetiologies of headache is important. We report an uncommon case of headache in a patient with complex congenital heart disease characterised by Ebstein's anomaly with previous surgical repair complicated by idiopathic intracranial hypertension. This case illustrates the importance of understanding the implications of headache with reference to the underlying cardiac disease as well as specific issues related to a relatively young cohort of patients. PMID:26251315

  16. Multiple urethral anomalies: Parameatal urethral cyst, penile curvature, incomplete hypospadiac anterior duplication of the urethra and distal hipospadias

    PubMed Central

    Tuglu, Devrim; Yuvanç, Ercan; Yılmaz, Erdal; Gur, Serhan; Batislam, Ertan

    2015-01-01

    The male genitourinary system is quite complex. There are numerous known anomalies of the male urethra either as isolated cases or in combination with other disorders. An improved understanding of the embryology and anatomy of the normal male urethral development might help explain the causes of the various urethral abnormalities. We contribute to the etiology of congenital anomalies with this multiple urethral anomalies case. PMID:26029298

  17. Congenital heart disease in spondylothoracic dysostosis: two familial cases.

    PubMed Central

    Simpson, J M; Cook, A; Fagg, N L; MacLachlan, N A; Sharland, G K

    1995-01-01

    Two familial cases of spondylothoracic dysostosis are reported. Both cases had severe congenital heart disease in addition to the skeletal malformations which are characteristic of the condition. Images PMID:7473656

  18. Adrenal glands in patients with cogenital renal anomalies: CT appearance

    SciTech Connect

    Kenney, P.J.; Robbins, G.L.; Ellis, D.A.; Spirt, B.A.

    1985-04-01

    The CT appearance of the adrenal glands was investigated in 30 patients with congenital renal anomalies. The ipsilateral adrenal was clearly identified in 83% of these patients; in all of them, the adrenal was a paraspinal disk-shaped organ, which appeared linear on CT. Conversely, the adrenals retained their normal shape in a control group of 20 patients with acquired renal atrophy or prior simple nephrectomy.

  19. Congenital hyperinsulinism with hyperammonaemia

    PubMed Central

    Pschibul, Alex; Müller, Jörg; Fahnenstich, Hubert

    2010-01-01

    Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia. Metabolic workup revealed hyperinsulinism combined with mild hyperammonaemia as well as elevation of α-ketoglutarate in urine. Genetic testing demonstrated a de novo mutation in exon 7 of the glutamate dehydrogenase gene on chromosome 10. Episodes of hypoglycaemia responded to treatment with diazoxide. The differential diagnosis, pathophysiology and treatment of congenital hyperinsulinism is discussed. PMID:22315648

  20. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  1. Congenital muscular torticollis.

    PubMed

    Nilesh, Kumar; Mukherji, Srijon

    2013-07-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  2. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  3. Unilateral Absence of the Left Pulmonary Artery With an Associated Vascular Anomaly in Adulthood

    PubMed Central

    Letter, Haley; Derrick, Edward; Koury, Ibrahim

    2016-01-01

    Left-sided pulmonary artery agenesis is a rare malformation that commonly requires childhood intervention secondary to associated congenital cardiovascular anomalies. We present an uncommon case of left-sided agenesis with an associated right-sided aortic arch and significant hypoplasia of the ipsilateral lung. Additionally, there is radiographic evidence of emphysema and pulmonary artery hypertension. Pulmonary artery agenesis is not a common entity, but should be considered in adult patients presenting with recurrent pneumonias and radiographic evidence suggestive of pulmonary hypoplasia. A prompt diagnosis is beneficial for affected individuals who may be candidates for a revascularization procedure or embolization of collaterals. Earlier diagnosis also allows for proper management and follow-up care, considering pulmonary artery hypertension is a severe complication of pulmonary artery agenesis. PMID:27081588

  4. Congenital malformations in experimental diabetic pregnancy: aetiology and antioxidative treatment. Minireview based on a doctoral thesis.

    PubMed

    Simán, M

    1997-01-01

    Diabetes mellitus in pregnancy causes congenital malformations in the offspring. The aim of this work was to characterize biochemical and morphologic anomalies in the conceptus of an animal model of diabetic pregnancy. In addition, a preventive treatment against diabetes-induced dysmorphogenesis was developed. Congenital cataract was often found in the offspring of diabetic rats. The fetal lenses had increased water accumulation, sorbitol concentration and aldose reductase activity compared to control lenses. The results suggest that the cataracts form via osmotic attraction of water due to sorbitol accumulation in the fetal lens. Another set of malformations, with possible neural crest cell origin, occurred frequently in offspring of diabetic rats. These included low set ears, micrognathia, hypoplasia of the thymus, thyroid and parathyroid glands, as well as anomalies of the heart and great vessels. Furthermore, diabetes caused intrauterine death and resorptions more frequently in the late part of gestation. When the pregnant diabetic rats were treated with the antioxidants butylated hydroxytoluene, vitamin E or vitamin C, the occurrence of gross malformations was reduced from approximately 25% to less than 8%, and late resorptions from 17% to 7%. This suggests that an abnormal handling of reactive oxygen species (ROS) is involved in diabetes-induced dysmorphogenesis in vivo. Indeed, an increased concentration of lipid peroxides, indicating damage caused by ROS, was found in fetuses of diabetes rats. In addition, embryos of diabetic rats had low concentrations of the antioxidant vitamin E compared to control embryos. These biochemical alterations were normalized by vitamin E treatment of the pregnant diabetic rats. The antioxidants are likely to have prevented ROS injury in the embryos of the diabetic rats, in particular in the neural crest cells, thereby normalizing embryonic development. These results provide a rationale for developing new anti

  5. Competing Orders and Anomalies.

    PubMed

    Moon, Eun-Gook

    2016-01-01

    A conservation law is one of the most fundamental properties in nature, but a certain class of conservation "laws" could be spoiled by intrinsic quantum mechanical effects, so-called quantum anomalies. Profound properties of the anomalies have deepened our understanding in quantum many body systems. Here, we investigate quantum anomaly effects in quantum phase transitions between competing orders and striking consequences of their presence. We explicitly calculate topological nature of anomalies of non-linear sigma models (NLSMs) with the Wess-Zumino-Witten (WZW) terms. The non-perturbative nature is directly related with the 't Hooft anomaly matching condition: anomalies are conserved in renormalization group flow. By applying the matching condition, we show massless excitations are enforced by the anomalies in a whole phase diagram in sharp contrast to the case of the Landau-Ginzburg-Wilson theory which only has massive excitations in symmetric phases. Furthermore, we find non-perturbative criteria to characterize quantum phase transitions between competing orders. For example, in 4D, we show the two competing order parameter theories, CP(1) and the NLSM with WZW, describe different universality class. Physical realizations and experimental implication of the anomalies are also discussed. PMID:27499184

  6. Competing Orders and Anomalies

    NASA Astrophysics Data System (ADS)

    Moon, Eun-Gook

    2016-08-01

    A conservation law is one of the most fundamental properties in nature, but a certain class of conservation “laws” could be spoiled by intrinsic quantum mechanical effects, so-called quantum anomalies. Profound properties of the anomalies have deepened our understanding in quantum many body systems. Here, we investigate quantum anomaly effects in quantum phase transitions between competing orders and striking consequences of their presence. We explicitly calculate topological nature of anomalies of non-linear sigma models (NLSMs) with the Wess-Zumino-Witten (WZW) terms. The non-perturbative nature is directly related with the ’t Hooft anomaly matching condition: anomalies are conserved in renormalization group flow. By applying the matching condition, we show massless excitations are enforced by the anomalies in a whole phase diagram in sharp contrast to the case of the Landau-Ginzburg-Wilson theory which only has massive excitations in symmetric phases. Furthermore, we find non-perturbative criteria to characterize quantum phase transitions between competing orders. For example, in 4D, we show the two competing order parameter theories, CP(1) and the NLSM with WZW, describe different universality class. Physical realizations and experimental implication of the anomalies are also discussed.

  7. Competing Orders and Anomalies

    PubMed Central

    Moon, Eun-Gook

    2016-01-01

    A conservation law is one of the most fundamental properties in nature, but a certain class of conservation “laws” could be spoiled by intrinsic quantum mechanical effects, so-called quantum anomalies. Profound properties of the anomalies have deepened our understanding in quantum many body systems. Here, we investigate quantum anomaly effects in quantum phase transitions between competing orders and striking consequences of their presence. We explicitly calculate topological nature of anomalies of non-linear sigma models (NLSMs) with the Wess-Zumino-Witten (WZW) terms. The non-perturbative nature is directly related with the ’t Hooft anomaly matching condition: anomalies are conserved in renormalization group flow. By applying the matching condition, we show massless excitations are enforced by the anomalies in a whole phase diagram in sharp contrast to the case of the Landau-Ginzburg-Wilson theory which only has massive excitations in symmetric phases. Furthermore, we find non-perturbative criteria to characterize quantum phase transitions between competing orders. For example, in 4D, we show the two competing order parameter theories, CP(1) and the NLSM with WZW, describe different universality class. Physical realizations and experimental implication of the anomalies are also discussed. PMID:27499184

  8. Isolated congenitally corrected transposition of the great arteries with dextroversion discovered incidentally in a patient with cocaine-induced acute myocardial infarction

    PubMed Central

    Tandon, Anumeha; Bose, Rahul; Yoon, Anthony D.

    2016-01-01

    Complex cardiac congenital anomalies can occasionally be found in adult patients who have no knowledge of their condition. Here we present the case of a 27-year-old man with cocaine-induced acute myocardial infarction in whom an isolated congenitally corrected transposition of the great arteries with dextroversion was discovered incidentally. PMID:27034558

  9. Congenital limb reduction defects in the agricultural setting.

    PubMed Central

    Schwartz, D A; LoGerfo, J P

    1988-01-01

    To ascertain whether parental involvement in agricultural work and residence in an agricultural setting are associated with the development of congenital limb reduction defects, we carried out a case-control study using California birth records from 1982, 1983, and 1984. Cases with limb reduction defects (N = 237) and randomly selected controls (N = 475) were compared regarding parental occupation and maternal county of residence. After adjustment for potential confounders in a multivariate analysis, the estimated relative risk (RR) of parenting a child with a limb reduction defect among parents involved in agricultural work was 0.9 (95 per cent confidence limits = 0.4, 1.7). The RR among mothers who resided in a county of high agricultural productivity as compared with minimal agricultural productivity was 1.7 (95% CL = 1.1, 2.7), while the RR associated with residence in a county with high pesticide use as compared with minimal pesticide use was 1.9 (95% CL = 1.2, 3.1). When we limited the cases to children with limb reduction defects who had at least one additional anomaly (n = 79) and compared them to the control births, the corresponding RRs were 1.6 (95% CL = 0.7, 3.6), for parental involvement in agricultural work, 2.4 (CL = 1.2, 4.7) for county agricultural productivity, and 3.1 (CL = 1.5, 6.5) for county pesticide use. PMID:3369595

  10. Percutaneous closure of congenital aortocaval fistula with a coexisting secundum atrial septal defect.

    PubMed

    Loh, Poay Huan; Jensen, Tim; Søndergaard, Lars

    2012-08-01

    Congenital aortocaval fistula is a very rare anomaly. Clinically, it resembles conditions that cause left-to-right shunt of blood. We report a case of such anomaly in combination with a secundum atrial septal defect in a 13-month-old girl who presented with failure to thrive and exertional respiratory symptoms. The aortocaval fistula was occluded percutaneously using an Amplatzer® Duct Occluder. PMID:22182401

  11. 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

  12. The congenital cranial dysinnervation disorders.

    PubMed

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. PMID:25633065

  13. Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

    PubMed

    Mantelli, Flavio; Nardella, Chiara; Tiberi, Eloisa; Sacchetti, Marta; Bruscolini, Alice; Lambiase, Alessandro

    2015-01-01

    Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK. PMID:26451380

  14. Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

    PubMed Central

    Mantelli, Flavio; Nardella, Chiara; Tiberi, Eloisa; Sacchetti, Marta; Bruscolini, Alice; Lambiase, Alessandro

    2015-01-01

    Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK. PMID:26451380

  15. Congenital alopecia universalis.

    PubMed

    Saraswat, P K; Laha, N N

    1989-09-01

    A case of congenital alopecia universalis without any other ectodermal defect and mental abnormality is described in a girl of eight years. There was no family history in any of the members. The child was born of a non-consanguineous marriage. PMID:2632563

  16. OPERATION FOR CONGENITAL CATARACT

    PubMed Central

    Barkan, Otto

    1949-01-01

    The traditional treatment of needling or discission of congenital cataract or membrane is open to many serious objections. Removal of the cataract by a modified form of linear extraction is recommended. The technique, with recent improvements which further assure extraction without hazard in early infancy, is described. PMID:18125222

  17. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  18. PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

    PubMed Central

    Stray-Pedersen, Asbjørg; Backe, Paul H.; Sorte, Hanne S.; Mørkrid, Lars; Chokshi, Niti Y.; Erichsen, Hans Christian; Gambin, Tomasz; Elgstøen, Katja B.P.; Bjørås, Magnar; Wlodarski, Marcin W.; Krüger, Marcus; Jhangiani, Shalini N.; Muzny, Donna M.; Patel, Ankita; Raymond, Kimiyo M.; Sasa, Ghadir S.; Krance, Robert A.; Martinez, Caridad A.; Abraham, Shirley M.; Speckmann, Carsten; Ehl, Stephan; Hall, Patricia; Forbes, Lisa R.; Merckoll, Else; Westvik, Jostein; Nishimura, Gen; Rustad, Cecilie F.; Abrahamsen, Tore G.; Rønnestad, Arild; Osnes, Liv T.; Egeland, Torstein; Rødningen, Olaug K.; Beck, Christine R.; Boerwinkle, Eric A.; Gibbs, Richard A.; Lupski, James R.; Orange, Jordan S.; Lausch, Ekkehart; Hanson, I. Celine

    2014-01-01

    Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Functional studies of the disease-associated PGM3 variants in E. coli cells demonstrated reduced PGM3 activity for all mutants tested. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. Two children received hematopoietic stem cell transplantation of cord blood and bone marrow from matched related donors; both had successful engraftment and correction of neutropenia and lymphopenia. We define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes. PMID:24931394

  19. Congenital cytomegalovirus infection in fraternal twins: a longitudinal case study examining neurocognitive and neurobehavioral correlates.

    PubMed

    Llorente, Antolin M; Castillo, Christine L

    2012-01-01

    Cytomegalovirus (CMV) is the most ubiquitous member of the herpes virus family and is the leading cause of congenital (vertical) infection in newborns (Fowler, Stagno, & Pass, 2003; Llorente, Steigmeyer, Cooper, Rivers, & Gazley, 2011; Noyola et al., 2000; Steigmeyer & Llorente, 2010). CMV is related to the group of viruses capable of causing more pernicious infectious diseases, such as chicken pox (Santos de Barona, 1998). Although the virus generally remains dormant, individuals whose symptoms are clinically apparent often are dramatically affected. Common symptomatic characteristics of the virus include microcephaly, jaundice, liver-spleen infections, pneumonia, cardiac anomalies, chorioretinitis, vision loss, sensory-neural hearing loss, mental retardation, and mononucleosis (Demmler, 1991; Kashden, Frison, Fowler, Pass, & Boll, 1998; Noyola et al., 2000; Pass, 2005; Santos de Barona). The prognosis of individuals with CMV is highly variable, and the prognosis of individuals with congenital CMV can usually be determined based on the extent of infection at birth. The purpose of this investigation is to present longitudinal results of neuropsychological evaluation of two dizygotic twin sets (one twin of each set is asymptomatic CMV-positive and the other is uninfected) who were reared in the same environment. In addition, the present findings are discussed within the context of emerging murine and other animal analogues of CMV as well as within the extant CMV literature. PMID:23428280

  20. Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies.

    PubMed

    Gilbert-Barness, E; Debich-Spicer, D; Cohen, M M; Opitz, J M

    2001-07-15

    A male infant was liveborn at 38 weeks of gestation to a G4P1AB2, 22-year-old, mother. Polyhydramnios and multiple congenital anomalies were noted by ultrasonography; the infant died 5 min after birth. At autopsy, the infant had multiple defects of blastogenesis including midline anomalies with asplenia and abnormalities of laterality formation. The laterality defects were unusual in that they combined asplenia with hypoplastic, symmetrically unilobate lungs and bilateral hyparterial bronchi more consistent with polysplenia, abdominal situs inversus with midline stomach, symmetric liver, and left gallbladder. No intracardiac abnormalities were present, but there was azygous continuation of the inferior vena cava. Additional multiple midline defects included bronchoesophageal fistula, duodenal atresia, absence of posterior leaf of diaphragm; horseshoe adrenal gland; microcephaly; Dandy-Walker anomaly with agenesis of cerebellar vermis and occipital encephalocele; holoprosencephaly with orbital encephalocele, midline defect of the orbital plate of the skull, bilateral anophthalmia, double proboscis with bilateral choanal atresia, midline upper lip and palatal cleft; single-lobed thyroid; hypoplastic external genitalia with midline cleft of scrotum, long tapering fingers, and defects of the cranium at the sites of orbital and occipital encephaloceles. Defects of laterality frequently are associated with other complex midline anomalies, which both result from a disturbance of pattern formation during blastogenesis, i.e., the induction of the progenitor fields. The latter are the result of the establishment of upstream expression domains of growth and transcription factors and other morphogens. Many of these and other genetic systems, expressed asymmetrically around the midline, are responsible for laterality formation and are the result of upstream and subsequent downstream gene expression cascades through the expression of genes such as HOX genes; bFGF; transforming

  1. Behavioral economics without anomalies.

    PubMed Central

    Rachlin, H

    1995-01-01

    Behavioral economics is often conceived as the study of anomalies superimposed on a rational system. As research has progressed, anomalies have multiplied until little is left of rationality. Another conception of behavioral economics is based on the axiom that value is always maximized. It incorporates so-called anomalies either as conflicts between temporal patterns of behavior and the individual acts comprising those patterns or as outcomes of nonexponential time discounting. This second conception of behavioral economics is both empirically based and internally consistent. PMID:8551195

  2. Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

    PubMed

    Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-07-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

  3. Comparison of the ESHRE–ESGE and ASRM classifications of Müllerian duct anomalies in everyday practice

    PubMed Central

    Ludwin, A.; Ludwin, I.

    2015-01-01

    STUDY QUESTION Does the European Society of Human Reproduction and Embryology–European Society for Gynaecological Endoscopy (ESHRE–ESGE) classification of female genital tract malformations significantly increase the frequency of septate uterus diagnosis relative to the American Society for Reproductive Medicine (ASRM) classification? SUMMARY ANSWER Use of the ESHRE–ESGE classification, compared with the ASRM classification, significantly increased the frequency of septate uterus recognition. WHAT IS KNOWN ALREADY The ESHRE–ESGE criteria were supposed to eliminate the subjective diagnoses of septate uterus by the ASRM criteria and replace the complementary absolute morphometric criteria. However, the clinical value of the ESHRE–ESGE classification in daily practice is difficult to appreciate. The application of the ESHRE–ESGE criteria has resulted in a significantly increased recognition of residual septum after hysteroscopic metroplasty, with a possible risk of overdiagnosis of septate uterus and problems for its management. STUDY DESIGN, SIZE, AND DURATION A prospective observational study was performed with 261 women consecutively enrolled between June and September 2013. PARTICIPANTS/MATERIALS, SETTING, AND METHODS Non-pregnant women of reproductive age presented for evaluation to a private medical center. A gynecological examination and 3D ultrasonography were performed to assess the anatomy of the uterus, cervix and vagina. Congenital anomalies were diagnosed using the ASRM classification with additional morphometric criteria as well as with the ESHRE–ESGE classification. We compared the frequency and concordance of diagnoses of septate uterus and all congenital malformations of the uterus according to both classifications. The morphological characteristics of septate uterus recognized by both criteria were compared. MAIN RESULTS AND ROLE OF CHANCE Of the 261 patients enrolled in this study, septate uterus was diagnosed in 44 (16.9%) and 16 (6

  4. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with β-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose β-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability). The prognosis of the

  5. Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

    PubMed Central

    Lu, Weining; van Eerde, Albertien M.; Fan, Xueping; Quintero-Rivera, Fabiola; Kulkarni, Shashikant; Ferguson, Heather; Kim, Hyung-Goo; Fan, Yanli; Xi, Qiongchao; Li, Qing-gang; Sanlaville, Damien; Andrews, William; Sundaresan, Vasi; Bi, Weimin; Yan, Jiong; Giltay, Jacques C.; Wijmenga, Cisca; de Jong, Tom P. V. M.; Feather, Sally A.; Woolf, Adrian S.; Rao, Yi; Lupski, James R.; Eccles, Michael R.; Quade, Bradley J.; Gusella, James F.; Morton, Cynthia C.; Maas, Richard L.

    2007-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) include vesicoureteral reflux (VUR). VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults. We investigated a man with a de novo translocation, 46,X,t(Y;3)(p11;p12)dn, who exhibits multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. This translocation disrupts ROBO2, which encodes a transmembrane receptor for SLIT ligand, and produces dominant-negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro. In addition, we identified two novel ROBO2 intracellular missense variants that segregate with CAKUT and VUR in two unrelated families. Adult heterozygous and mosaic mutant mice with reduced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes. Collectively, these results implicate the SLIT-ROBO signaling pathway in the pathogenesis of a subset of human VUR. PMID:17357069

  6. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

    PubMed

    Lu, Weining; van Eerde, Albertien M; Fan, Xueping; Quintero-Rivera, Fabiola; Kulkarni, Shashikant; Ferguson, Heather; Kim, Hyung-Goo; Fan, Yanli; Xi, Qiongchao; Li, Qing-Gang; Sanlaville, Damien; Andrews, William; Sundaresan, Vasi; Bi, Weimin; Yan, Jiong; Giltay, Jacques C; Wijmenga, Cisca; de Jong, Tom P V M; Feather, Sally A; Woolf, Adrian S; Rao, Yi; Lupski, James R; Eccles, Michael R; Quade, Bradley J; Gusella, James F; Morton, Cynthia C; Maas, Richard L

    2007-04-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) include vesicoureteral reflux (VUR). VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults. We investigated a man with a de novo translocation, 46,X,t(Y;3)(p11;p12)dn, who exhibits multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. This translocation disrupts ROBO2, which encodes a transmembrane receptor for SLIT ligand, and produces dominant-negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro. In addition, we identified two novel ROBO2 intracellular missense variants that segregate with CAKUT and VUR in two unrelated families. Adult heterozygous and mosaic mutant mice with reduced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes. Collectively, these results implicate the SLIT-ROBO signaling pathway in the pathogenesis of a subset of human VUR. PMID:17357069

  7. Dual diaphragmatic anomalies.

    PubMed

    Padmanabhan, Arjun; Thomas, Abin Varghese

    2016-01-01

    Although diaphragmatic anomalies such as an eventration and hiatus hernia are commonly encountered in incidental chest X-ray imaging, the presence of concomitant multiple anomalies is extremely rare. This is all the more true in adults. Herein, we present the case of a 75-year-old female, while undergoing a routine chest X-ray imaging, was found to have eventration of right hemidiaphragm along with a hiatus hernia as well. PMID:27625457

  8. Dual diaphragmatic anomalies

    PubMed Central

    Padmanabhan, Arjun; Thomas, Abin Varghese

    2016-01-01

    Although diaphragmatic anomalies such as an eventration and hiatus hernia are commonly encountered in incidental chest X-ray imaging, the presence of concomitant multiple anomalies is extremely rare. This is all the more true in adults. Herein, we present the case of a 75-year-old female, while undergoing a routine chest X-ray imaging, was found to have eventration of right hemidiaphragm along with a hiatus hernia as well.

  9. Anomalies and entanglement entropy

    NASA Astrophysics Data System (ADS)

    Nishioka, Tatsuma; Yarom, Amos

    2016-03-01

    We initiate a systematic study of entanglement and Rényi entropies in the presence of gauge and gravitational anomalies in even-dimensional quantum field theories. We argue that the mixed and gravitational anomalies are sensitive to boosts and obtain a closed form expression for their behavior under such transformations. Explicit constructions exhibiting the dependence of entanglement entropy on boosts is provided for theories on spacetimes with non-trivial magnetic fluxes and (or) non-vanishing Pontryagin classes.

  10. On isostatic geoid anomalies

    NASA Technical Reports Server (NTRS)

    Haxby, W. F.; Turcotte, D. L.

    1978-01-01

    In regions of slowly varying lateral density changes, the gravity and geoid anomalies may be expressed as power series expansions in topography. Geoid anomalies in isostatically compensated regions can be directly related to the local dipole moment of the density-depth distribution. This relationship is used to obtain theoretical geoid anomalies for different models of isostatic compensation. The classical Pratt and Airy models give geoid height-elevation relationships differing in functional form but predicting geoid anomalies of comparable magnitude. The thermal cooling model explaining ocean floor subsidence away from mid-ocean ridges predicts a linear age-geoid height relationship of 0.16 m/m.y. Geos 3 altimetry profiles were examined to test these theoretical relationships. A profile over the mid-Atlantic ridge is closely matched by the geoid curve derived from the thermal cooling model. The observed geoid anomaly over the Atlantic margin of North America can be explained by Airy compensation. The relation between geoid anomaly and bathymetry across the Bermuda Swell is consistent with Pratt compensation with a 100-km depth of compensation.

  11. Genetics of kidney development: pathogenesis of renal anomalies

    PubMed Central

    2010-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than 50% of abdominal masses found in neonates and involve about 0.5% of all pregnancies. CAKUT has a major role in renal failure, and increasing evidence suggests that certain abnormalities predispose to the development of hypertension and cardiovascular disease in adulthood. To understand the pathogenesis of human renal anomalies, understanding the development of kidney is important. Diverse anomalies of the kidney corresponding to defects at a particular stage of development have been documented recently; however, more research is required to understand the molecular networks underlying kidney development, and such an investigation will provide a clue to the therapeutic intervention for CAKUT. PMID:21189947

  12. Long-term urological outcomes in cloacal anomalies.

    PubMed

    Caldwell, Brian T; Wilcox, Duncan T

    2016-04-01

    Cloacal anomalies are the most complex and severe form of congenital anorectal malformations (ARM) and urogenital malformations, and it has been well documented that increased severity of ARM leads to worse outcomes. While short-term data on persistent cloaca are available, a paucity of data on long-term outcomes exists, largely because of a lack of uniform terminology, inclusion with other ARM and evolution of the operative technique. On comprehensive review of the published literature on long-term urological outcomes in patients with cloacal anomalies, we found a significant risk of chronic kidney disease and incontinence, however, with improvements in surgical technique, outcomes have improved. Continence often requires intermittent catheterization and in some cases, bladder augmentation. The complexity of cloacal malformations and associated anomalies make long-term multidisciplinary follow-up imperative. PMID:26969235

  13. Three dimensional echocardiography in congenital heart defects

    PubMed Central

    Shirali, Girish S.

    2008-01-01

    Three dimensional echocardiography (3DE) is a new, rapidly evolving modality for cardiac imaging. Important technological advances have heralded an era where practical 3DE scanning is becoming a mainstream modality. We review the modes of 3DE that can be used. The literature has been reviewed for articles that examine the applicability of 3DE to congenital heart defects to visualize anatomy in a spectrum of defects ranging from atrioventricular septal defects to mitral valve abnormalities and Ebstein's anomaly. The use of 3DE color flow to obtain echocardiographic angiograms is illustrated. The state of the science in quantitating right and left ventricular volumetrics is reviewed. Examples of novel applications including 3DE transesophageal echocardiography and image-guided interventions are provided. We also list the limitations of the technique, and discuss potential future developments in the field. PMID:20300232

  14. Congenital urethrovaginal fistula with transverse vaginal septum.

    PubMed

    Amer, Mohamed Ibrahim; Ahmed, Mortada El-Sayed; Ali, Ali Hagag

    2016-08-01

    Congenital urethrovaginal fistula is an extremely rare genitourinary anomaly. Literature search identified only five reported cases, all of which were associated with urogenital abnormalities. Transverse vaginal septum is another rare condition, resulting from abnormalities in the vertical fusion between the vaginal components of the Mullerian ducts and the urogenital sinus; and associated fistulous connection of the vagina with the urethra is even rarer. Herein we describe the case of a 35-year-old woman who presented with dyspareunia, and a 1-year history of infertility, who was found to have a urethrovaginal fistula with low transverse vaginal septum. The patient was successfully treated with excision of the septum and closure of the urethrovaginal fistula. PMID:27170419

  15. Why prevent, diagnose and treat congenital toxoplasmosis?

    PubMed Central

    McLeod, Rima; Kieffer, Francois; Sautter, Mari; Hosten, Tiffany; Pelloux, Herve

    2009-01-01

    Evidence that prevention, diagnosis and treatment of toxoplasmosis is beneficial developed as follows: antiparasitic agents abrogate Toxoplasma gondii tachyzoite growth, preventing destruction of infected, cultured, mammalian cells and cure active infections in experimental animals, including primates. They treat active infections in persons who are immune-compromised, limit destruction of retina by replicating parasites and thereby treat ocular toxoplasmosis and treat active infection in the fetus and infant. Outcomes of untreated congenital toxoplasmosis include adverse ocular and neurologic sequelae described in different countries and decades. Better outcomes are associated with treatment of infected infants throughout their first year of life. Shorter intervals between diagnosis and treatment in utero improve outcomes. A French approach for diagnosis and treatment of congenital toxoplasmosis in the fetus and infant can prevent toxoplasmosis and limit adverse sequelae. In addition, new data demonstrate that this French approach results in favorable outcomes with some early gestation infections. A standardized approach to diagnosis and treatment during gestation has not yet been applied generally in the USA. Nonetheless, a small, similar experience confirms that this French approach is feasible, safe, and results in favorable outcomes in the National Collaborative Chicago-based Congenital Toxoplasmosis Study cohort. Prompt diagnosis, prevention and treatment reduce adverse sequelae of congenital toxoplasmosis. PMID:19430661

  16. Congenital hemifacial hyperplasia.

    PubMed

    Deshingkar, S A; Barpande, S R; Bhavthankar, J D

    2011-07-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  17. Congenital hemophagocytic reticulosis.

    PubMed

    Koto, A; Morecki, R; Santorineou, M

    1976-04-01

    A fatal case of an apparently congenital form of hemophagocytic reticulosis is reported. The onset was manifested by hyperbilirubinemia and hepatosplenomegaly which were present at birth and persisted throughout life. Fever, anemia and pancytopenia developed at 1 month of age and became progressively worse. A splenectomy was performed at the age of 3 months, but the child died one day later with disseminated intravascular coagulation and pulmonary hemorrhage. The literature is reviewed with regard to the relationship of this case to (familial) hemophagocytic reticulosis and malignant histiocytosis (histiocytic medullary reticulosis). It is suggested that congenital hemophagocytic reticulosis, as described here, (familial) hemophagocytic reticulosis in infants, and malignant histiocytosis in adults all represent the same basic disorder with different ages of onset and clinicopathologic manifestations. PMID:1266810

  18. Update on congenital glaucoma

    PubMed Central

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  19. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment. PMID:17214531

  20. Other congenital abnormalities.

    PubMed

    Cobbett, J R

    1974-06-29

    The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion. PMID:4853507

  1. DEVELOPMENTAL ANOMALIES DERIVED FROM EXPOSURE OF ZYGOTES AND FIRST-CLEAVAGE EMBRYOS TO MUTAGENS

    EPA Science Inventory

    Results of continuing studies indicate that the mouse zygote and two-cell embryo stages are a window of susceptibility in the experimental induction of congenital anomalies with certain mutagenic agents. he mechanisms by which the mutagens initiate the pathogenesis of these devel...

  2. The strong association of left-side heart anomalies with Kabuki syndrome

    PubMed Central

    Yoon, Ja Kyoung; Ahn, Kyung Jin; Kwon, Bo Sang; Kim, Gi Beom; Noh, Chung Il; Ko, Jung Min

    2015-01-01

    Purpose Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling. PMID:26300940

  3. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  4. Superdominant Right Coronary Artery with Absence of Left Circumflex and Anomalous Origin of the Left Anterior Descending Coronary from the Right Sinus: An Unheard Coronary Anomaly Circulation

    PubMed Central

    Oliveira, Marcos Danillo Peixoto; de Fazzio, Fernando Roberto; Mariani Junior, José; Campos, Carlos M.; Kajita, Luiz Junya; Ribeiro, Expedito E.; Lemos, Pedro Alves

    2015-01-01

    Coronary artery anomalies are congenital changes in their origin, course, and/or structure. Most of them are discovered as incidental findings during coronary angiographic studies or at autopsies. We present herein the case of a 70-year-old man with symptomatic severe aortic valvar stenosis whose preoperative coronary angiogram revealed a so far unreported coronary anomaly circulation pattern. PMID:26240763

  5. Imaging of congenital Zika virus infection: the route to identification of prognostic factors.

    PubMed

    Vouga, Manon; Baud, David

    2016-09-01

    Zika virus (ZIKV) has recently emerged as a novel teratogenic agent associated with severe neurological complications. The risk associated with maternal infection remains to be exactly defined but appears to be significant. Like other TORCH agents (toxoplasmosis, other agents, rubella, cytomegalovirus and herpes simplex), it is unlikely that all affected fetuses will be symptomatic at birth. It is therefore urgent to better define the spectrum of anomalies observed in infected fetuses to provide adequate parental counseling. In this review, we provide a comprehensive analysis of major cases described to date and highlight specific prenatal and postnatal radiological findings of congenital ZIKV infection. A total of 19 reports were included in our analysis. ZIKV seemed to harbor a specific tropism for the central nervous system, and anomalies were mostly limited to the brain. Major radiological findings were ventriculomegaly, diffuse calcifications and signs of abnormal gyration as well as cortical development. In addition, a significant number of fetuses suffered from intra uterine growth restriction. Based on these findings, we provide recommendations for adequate radiological monitoring of at-risk pregnancies. © 2016 John Wiley & Sons, Ltd. PMID:27481629

  6. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  7. Astrometric solar system anomalies

    SciTech Connect

    Nieto, Michael Martin; Anderson, John D

    2009-01-01

    There are at least four unexplained anomalies connected with astrometric data. perhaps the most disturbing is the fact that when a spacecraft on a flyby trajectory approaches the Earth within 2000 km or less, it often experiences a change in total orbital energy per unit mass. next, a secular change in the astronomical unit AU is definitely a concern. It is increasing by about 15 cm yr{sup -1}. The other two anomalies are perhaps less disturbing because of known sources of nongravitational acceleration. The first is an apparent slowing of the two Pioneer spacecraft as they exit the solar system in opposite directions. Some astronomers and physicists are convinced this effect is of concern, but many others are convinced it is produced by a nearly identical thermal emission from both spacecraft, in a direction away from the Sun, thereby producing acceleration toward the Sun. The fourth anomaly is a measured increase in the eccentricity of the Moon's orbit. Here again, an increase is expected from tidal friction in both the Earth and Moon. However, there is a reported unexplained increase that is significant at the three-sigma level. It is produent to suspect that all four anomalies have mundane explanations, or that one or more anomalies are a result of systematic error. Yet they might eventually be explained by new physics. For example, a slightly modified theory of gravitation is not ruled out, perhaps analogous to Einstein's 1916 explanation for the excess precession of Mercury's perihelion.

  8. Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

    PubMed

    Lazier, Joanna; Mah, Jean K; Nikolic, Ana; Wei, Xing-Chang; Samedi, Veronica; Fajardo, Carlos; Brindle, Mary; Perrier, Renee; Thomas, Mary Ann

    2016-01-01

    Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias. PMID:26684984

  9. Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

    PubMed Central

    Guida, Valentina; Lepri, Francesca; Vijzelaar, Raymon; De Zorzi, Andrea; Versacci, Paolo; Digilio, Maria Cristina; Marino, Bruno; De Luca, Alessandro; Dallapiccola, Bruno

    2010-01-01

    GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role of GATA4 copy number variations (CNVs) in non-syndromic CHDs. To explore the possible occurrence of GATA4 gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA) a cohort of 161 non-syndromic patients with cardiac anomalies previously associated with GATA4 gene mutations. The patients were mutation-negative for GATA4, NKX2.5, and FOG2 genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution of GATA4 gene CNVs in CHD pathogenesis. PMID:20592452

  10. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2015-10-26

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  11. Amaurosis fugax associated with congenital vascular defect

    PubMed Central

    Giltner, John W; Thomas, Edward R; Rundell, William K

    2016-01-01

    A 68-year-old female with no significant past medical history presented with loss of vision in the lower half of her left eye that lasted <5 minutes. No abnormalities were found on ocular or physical exam. Computed tomography angiography and carotid ultrasound were performed, which confirmed the diagnosis as amaurosis fugax with two abnormalities leading to the transient retinal vessel occlusion. First, it was found that the patient has a congenital vascular anomaly, which consisted most notably of a right-sided aortic arch. This vascular anomaly also consisted of abnormal branching of the left subclavian and common carotid arteries, predisposing the patient to turbulent blood flow and increased risk of the formation of an atherosclerotic plaque at the origin of the common carotid artery. This is an abnormal location for a plaque leading to amaurosis fugax compared to the most common location at the carotid bifurcation. Endarterectomy was not performed because of the difficult location of the plaque and tortuosity of the vessel. Rather, medical intervention with antiplatelet and lipid-lowering therapy was initiated to lower the risk of future retinal or cerebral thromboembolic events. PMID:27445507

  12. Magnetic resonance imaging of Müllerian duct anomalies in children.

    PubMed

    Li, Yi; Phelps, Andrew; Zapala, Matthew A; MacKenzie, John D; MacKenzie, Tippi C; Courtier, Jesse

    2016-05-01

    Müllerian duct anomalies encompass a wide variety of disorders resulting from abnormalities in the embryological development of the Müllerian ducts. In the prepubertal pediatric population, Müllerian duct anomalies are often incidental findings on studies obtained for other reasons. The onset of menses can prompt more clinical symptoms. Proper characterization of Müllerian duct anomalies is important because these anomalies can affect the development of gynecological disorders as well as fertility. Müllerian duct anomalies also carry a high association with other congenital anomalies, particularly renal abnormalities. MRI is widely considered the best modality for assessing Müllerian duct anomalies; it provides multiplanar capability, clear anatomical detail and tissue characterization without ionizing radiation. MRI allows for careful description of Müllerian duct anomalies, often leading to classification into the most widely accepted classification system for Müllerian duct anomalies. This system, developed by the American Society of Reproductive Medicine, includes seven subtypes: uterine agenesis/hypoplasia, unicornuate, didelphys, bicornuate, septate, arcuate, and diethylstilbestrol (DES) drug-related uterus. In cases of complex anomalies that defy classification, MRI allows detailed depiction of all components of the anatomical abnormality, allowing for proper management and surgical planning. PMID:27229498

  13. Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.

    PubMed

    Mazen, Inas; Amin, Heba; Kamel, Alaa; El Ruby, Mona; Bignon-Topalovic, Joelle; Bashamboo, Anu; McElreavey, Ken

    2016-01-01

    Congenital heart diseases (CHDs) are the most common cause of all birth defects and account for nearly 25% of all major congenital anomalies leading to mortality in the first year of life. Extracardiac anomalies including urogenital aberrations are present in ∼30% of all cases. Here, we present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype. PMID:27055092

  14. [Congenital myasthenic syndrome].

    PubMed

    Araga, Shigeru

    2008-06-01

    Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders in which neuromuscular transmission is compromised by one or more specific mechanisms. CMS are clinically diagnosed by a history of fatigability and muscle weakness since infancy or early childhood, a decremental EMG response and the absence of acetylcholine receptor antibodies. CMS form a heterogeneous group of disorders which are classified as originating from presynaptic, synaptic or postsynaptic defects. Molecular genetic studies reveal a various type of mutations in synapse-associated genes. However, the genetic abnormalities of many CMS are still unresolved. This article outlines the classification of CMS and etiology of individual forms. PMID:18540366

  15. Precalcaneal Congenital Fibrolipomatous Hamartoma

    PubMed Central

    Yang, Ji-Hye; Park, Oun-Jae; Kim, Jeong-Eun; Won, Chong-Hyun; Chang, Sung-Eun; Choi, Jee-Ho; Moon, Kee-Chan

    2011-01-01

    Precalcaneal congenital fibrolipomatous hamartomas (PCFHs) are characterized clinically by the presence of unilateral or bilateral, asymptomatic nodules in the medial precalcaneal plantar region of the heel. They are skin colored and usually painless nodules. In most patients, the lesions appear within the first few months of life, but they may also be present at birth. Generally PCFHs are benign, but they can grow in proportion to the growth of the infants. Here, we report the case of a 4-month-old boy with a solitary, localized skin-colored nodule on the precalcaneal plantar region of his right heel, diagnosed as a PCFH. PMID:21738373

  16. Nonclassic Congenital Adrenal Hyperplasia

    PubMed Central

    Witchel, Selma Feldman; Azziz, Ricardo

    2010-01-01

    Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH. PMID:20671993

  17. Congenital nephrotic syndrome.

    PubMed

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  18. CONGENITAL DIAPHRAGMATIC HERNIA

    PubMed Central

    Adams, Burton E.

    1954-01-01

    Treatment of congenital diaphragmatic hernia in infants is a matter of semi-emergency and should be done as soon as adequate preparations can be made because sometimes fatal complications develop swiftly. In preoperative preparation there is great advantage in thorough decompression of the abdominal viscera, stomach, bowel and bladder. As to operation, the author believes the abdominal approach has most to recommend it. In the postoperative period, continued gastric suction for a brief time, parenteral administration of fluids and use of a Mistogen tent with a high moist oxygen content will facilitate rapid recovery. ImagesFigure 1. PMID:13209363

  19. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  20. Congenital anterior urethral diverticulum.

    PubMed

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  1. Congenital Median Upper Lip Fistula

    PubMed Central

    al Aithan, Bandar

    2012-01-01

    Congenital median upper lip fistula (MULF) is an extremely rare condition resulting from abnormal fusion of embryologic structures. We present a new case of congenital medial upper lip fistula located in the midline of the philtrum of a 6 year old girl. PMID:22953305

  2. Improving the geological interpretation of magnetic and gravity satellite anomalies

    NASA Technical Reports Server (NTRS)

    Hinze, W. J.; Braile, L. W. (Principal Investigator); Vonfrese, R. R. B.

    1985-01-01

    Current limitations in the quantitative interpretation of satellite-elevation geopotential field data and magnetic anomaly data were investigated along with techniques to overcome them. A major result was the preparation of an improved scalar magnetic anomaly map of South America and adjacent marine areas directly from the original MAGSAT data. In addition, comparisons of South American and Euro-African data show a strong correlation of anomalies along the Atlantic rifted margins of the continents.

  3. Perineal Groove: A Rare Congenital Midline Defect of Perineum

    PubMed Central

    Harsono, Mimily; Pourcyrous, Massroor

    2015-01-01

    Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up. PMID:26929866

  4. Perineal Groove: A Rare Congenital Midline Defect of Perineum.

    PubMed

    Harsono, Mimily; Pourcyrous, Massroor

    2016-03-01

    Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up. PMID:26929866

  5. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.

    PubMed

    Bailleul-Forestier, Isabelle; Berdal, Ariane; Vinckier, Frans; de Ravel, Thomy; Fryns, Jean Pierre; Verloes, Alain

    2008-01-01

    Teeth are specialized structural components of the craniofacial skeleton. Developmental defects occur either alone or in combination with other birth defects. In this paper, we review the dental anomalies in several multiple congenital anomaly (MCA) syndromes, in which the dental component is pivotal in the recognition of the phenotype and/or the molecular basis of the disorder is known. We will consider successively syndromic forms of amelogenesis imperfecta or enamel defects, dentinogenesis imperfecta (i.e. osteogenesis imperfecta) and other dentine anomalies. Focusing on dental aspects, we will review a selection of MCA syndromes associated with teeth number and/or shape anomalies. A better knowledge of the dental phenotype may contribute to an earlier diagnosis of some MCA syndromes involving teeth anomalies. They may serve as a diagnostic indicator or help confirm a syndrome diagnosis. PMID:18599376

  6. QCD trace anomaly

    SciTech Connect

    Andersen, Jens O.; Leganger, Lars E.; Strickland, Michael; Su, Nan

    2011-10-15

    In this brief report we compare the predictions of a recent next-to-next-to-leading order hard-thermal-loop perturbation theory (HTLpt) calculation of the QCD trace anomaly to available lattice data. We focus on the trace anomaly scaled by T{sup 2} in two cases: N{sub f}=0 and N{sub f}=3. When using the canonical value of {mu}=2{pi}T for the renormalization scale, we find that for Yang-Mills theory (N{sub f}=0) agreement between HTLpt and lattice data for the T{sup 2}-scaled trace anomaly begins at temperatures on the order of 8T{sub c}, while treating the subtracted piece as an interaction term when including quarks (N{sub f}=3) agreement begins already at temperatures above 2T{sub c}. In both cases we find that at very high temperatures the T{sup 2}-scaled trace anomaly increases with temperature in accordance with the predictions of HTLpt.

  7. Modeling the Pioneer anomaly

    NASA Astrophysics Data System (ADS)

    Leibovitz, Jacques

    2007-04-01

    Scientists continue their attempts to model the observed Pioneer anomaly (PA) as an artifact of measurement or of equipment operation. Scientists also explore ``new physics'' as a possible explanation, but they have eliminated dark matter (DM). Here, the main arguments used to eliminate DM are refuted and then the anomaly is modeled by application of Newton laws to the observed macroscopic properties of DM. Around a central mass M, the modeling predicts a DM distribution that produces the PA at short distances (R smaller than 188 AU) from a star like the Sun, and a flat rotation curve at sufficiently large distances from the center of a galaxy. Below about 188 AU from the Sun, the modeling predicts that the anomaly may be expressed as PA = 8.3E-8 [R̂(-2)] -- 1 cm (s)̂(-2). It shows that the anomaly remains fairly constant down to 5 AU, decreases significantly from 5 AU to 1 AU where it becomes zero and changes sign below a distance of 1 AU, then increases rapidly in magnitude as R decreases in that range. Verifiable tests are proposed. Some related topics for future research are proposed.

  8. Whole exome sequence analysis of Peters anomaly.

    PubMed

    Weh, Eric; Reis, Linda M; Happ, Hannah C; Levin, Alex V; Wheeler, Patricia G; David, Karen L; Carney, Erin; Angle, Brad; Hauser, Natalie; Semina, Elena V

    2014-12-01

    Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently known ocular genes. Among the eight previously recognized Peters anomaly genes, we identified a de novo missense mutation in PAX6, c.155G>A, p.(Cys52Tyr), in one patient. Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel. This is the first study to use whole exome sequencing to discern the genetic etiology of a large cohort of patients with syndromic or isolated Peters anomaly. We report five new genes associated with this condition and suggest screening of TFAP2A and FLNA in patients with Peters anomaly and relevant syndromic features and HCCS, NDP and SLC4A11 in patients with isolated Peters anomaly. PMID:25182519

  9. Whole exome sequence analysis of Peters anomaly

    PubMed Central

    Weh, Eric; Reis, Linda M.; Happ, Hannah C.; Levin, Alex V.; Wheeler, Patricia G.; David, Karen L.; Carney, Erin; Angle, Brad; Hauser, Natalie

    2015-01-01

    Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently known ocular genes. Among the eight previously recognized Peters anomaly genes, we identified a de novo missense mutation in PAX6, c.155G>A, p.(Cys52Tyr), in one patient. Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel. This is the frst study to use whole exome sequencing to discern the genetic etiology of a large cohort of patients with syndromic or isolated Peters anomaly. We report five new genes associated with this condition and suggest screening of TFAP2A and FLNA in patients with Peters anomaly and relevant syndromic features and HCCS, NDP and SLC4A11 in patients with isolated Peters anomaly. PMID:25182519

  10. [Genetics of congenital lipodystrophies].

    PubMed

    Buffet, A; Lombes, M; Caron, P

    2015-10-01

    Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms. On the contrary, LMNA and PPARG gene mutations are recovered in partial lipodystrophies forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, triglycerides synthesis and lysis or playing a major role in the lipid droplet formation. Congenital lipodystrophies treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review. PMID:26776286

  11. Congenital fiber type disproportion.

    PubMed

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  12. [Congenital multiple arthrogryposis].

    PubMed

    Parsch, Klaus; Pietrzak, Szymon

    2007-03-01

    From 1975 to 2004 a total of 38 children handicapped by congenital multiple arthrogryposis were cared for. The congenital joint contractures demand a major effort in terms of surgical reconstruction. In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-confident adults who can cope with life despite their handicaps. The hip in arthrogryposis shows variable forms of pathology, ranging from the almost normal hip to hip contractures with dislocation. Its treatment has some limited advantages, but hardly improves mobility. The knee contractures are actively treated to allow patients to sit, stand and walk better. The club foot and the rocker-bottom foot need sophisticated conservative and operative treatments. If conservative manipulation of bilateral extension contractures of the elbow fails operative treatment is carried out on the dominant side. For shoulder, hand and finger contractures conservative manipulation brings about little improvement, and surgical approaches help hardly at all. PMID:17323063

  13. Coronary artery anomalies overview: The normal and the abnormal.

    PubMed

    Villa, Adriana Dm; Sammut, Eva; Nair, Arjun; Rajani, Ronak; Bonamini, Rodolfo; Chiribiri, Amedeo

    2016-06-28

    The aim of this review is to give a comprehensive and concise overview of coronary embryology and normal coronary anatomy, describe common variants of normal and summarize typical patterns of anomalous coronary artery anatomy. Extensive iconography supports the text, with particular attention to images obtained in vivo using non-invasive imaging. We have divided this article into three groups, according to their frequency in the general population: Normal, normal variant and anomaly. Although congenital coronary artery anomalies are relatively uncommon, they are the second most common cause of sudden cardiac death among young athletes and therefore warrant detailed review. Based on the functional relevance of each abnormality, coronary artery anomalies can be classified as anomalies with obligatory ischemia, without ischemia or with exceptional ischemia. The clinical symptoms may include chest pain, dyspnea, palpitations, syncope, cardiomyopathy, arrhythmia, myocardial infarction and sudden cardiac death. Moreover, it is important to also identify variants and anomalies without clinical relevance in their own right as complications during surgery or angioplasty can occur. PMID:27358682

  14. Coronary artery anomalies overview: The normal and the abnormal

    PubMed Central

    Villa, Adriana DM; Sammut, Eva; Nair, Arjun; Rajani, Ronak; Bonamini, Rodolfo; Chiribiri, Amedeo

    2016-01-01

    The aim of this review is to give a comprehensive and concise overview of coronary embryology and normal coronary anatomy, describe common variants of normal and summarize typical patterns of anomalous coronary artery anatomy. Extensive iconography supports the text, with particular attention to images obtained in vivo using non-invasive imaging. We have divided this article into three groups, according to their frequency in the general population: Normal, normal variant and anomaly. Although congenital coronary artery anomalies are relatively uncommon, they are the second most common cause of sudden cardiac death among young athletes and therefore warrant detailed review. Based on the functional relevance of each abnormality, coronary artery anomalies can be classified as anomalies with obligatory ischemia, without ischemia or with exceptional ischemia. The clinical symptoms may include chest pain, dyspnea, palpitations, syncope, cardiomyopathy, arrhythmia, myocardial infarction and sudden cardiac death. Moreover, it is important to also identify variants and anomalies without clinical relevance in their own right as complications during surgery or angioplasty can occur. PMID:27358682

  15. Hypersplenism Associated With Late-Presenting Congenital Diaphragmatic Hernia

    PubMed Central

    Lu, Xue-Xin; Shen, Zhen; Dong, Kui-Ran; Zheng, Shan

    2016-01-01

    Abstract Congenital diaphragmatic hernia (CDH) is a rare developmental anomaly of the diaphragm that mainly presents mainly in newborns. Even less common is late-onset CDH associated with hypersplenism. We report a 10-year-old male who presented with coughing, blood-stained sputum, and fever. He was diagnosed with CDH complicating hypersplenism after computed tomography was done. The patient was treated by CDH repair and splenectomy, and remained asymptomatic at 6-month follow-up. Computed tomography can be an important diagnostic option in this rare combination of CDH and hypersplenism, and surgical intervention is strongly recommended. PMID:27227931

  16. Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia.

    PubMed

    Shue, Eveline H; Miniati, Doug; Lee, Hanmin

    2012-06-01

    Congenital diaphragmatic hernia (CDH) is a common birth anomaly. Absence or presence of liver herniation and determination of lung-to-head ratio are the most accurate predictors of prognosis for fetuses with CDH. Though open fetal CDH repair has been abandoned, fetal endoscopic balloon tracheal occlusion promotes lung growth in fetuses with severe CDH. Although significant improvements in lung function have not yet been shown in humans, reversible or dynamic tracheal occlusion is promising for select fetuses with severe CDH. This article reviews advances in prenatal diagnosis of CDH, the experimental basis for tracheal occlusion, and its translation into human clinical trials. PMID:22682380

  17. Anomaly discrimination in hyperspectral imagery

    NASA Astrophysics Data System (ADS)

    Chen, Shih-Yu; Paylor, Drew; Chang, Chein-I.

    2014-05-01

    Anomaly detection finds data samples whose signatures are spectrally distinct from their surrounding data samples. Unfortunately, it cannot discriminate the anomalies it detected one from another. In order to accomplish this task it requires a way of measuring spectral similarity such as spectral angle mapper (SAM) or spectral information divergence (SID) to determine if a detected anomaly is different from another. However, this arises in a challenging issue of how to find an appropriate thresholding value for this purpose. Interestingly, this issue has not received much attention in the past. This paper investigates the issue of anomaly discrimination which can differentiate detected anomalies without using any spectral measure. The ideas are to makes use unsupervised target detection algorithms, Automatic Target Generation Process (ATGP) coupled with an anomaly detector to distinguish detected anomalies. Experimental results show that the proposed methods are indeed very effective in anomaly discrimination.

  18. A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.

    PubMed

    Bretones, P; Duprez, L; Parma, J; David, M; Vassart, G; Rodien, P

    2001-10-01

    Most of the time congenital hypothyroidism appears as a sporadic disease. In addition to the rare defects in hormonosynthesis associated with goiters, the causes of congenital hypothyroidism include agenesis and ectopy of the thyroid gland. The study of some familial cases has allowed the identification of a few genes responsible for congenital hypothyroidism. We report here a familial case of congenital hypothyroidism, transmitted as a recessive trait, and caused by a homozygous mutation in the thyrotropin receptor (TSH-R). The initial diagnosis of thyroid agenesis, based on the absence of tracer uptake on scintiscan, was incorrect, because ultrasound examination identified severely hypoplastic thyroid tissue in the cervical region. PMID:11716047

  19. Antler anomalies in tule elk

    USGS Publications Warehouse

    Gogan, Peter J.P.; Jessup, David A.; Barrett, Reginald H.

    1988-01-01

    Antler anomalies were evident in tule elk (Cervus elaphus nannodes) within 1 yr of reintroduction to Point Reyes, California (USA). These anomalies are consistent with previously described mineral deficiency-induced anomalies in cervids. The elk were judged deficient in copper. Low levels of copper in soils and vegetation at the release site, exacerbated by possible protein deficiency due to poor range conditions, are postulated as likely causes of the antler anomalies.

  20. Continental and oceanic magnetic anomalies: Enhancement through GRM

    NASA Technical Reports Server (NTRS)

    Vonfrese, R. R. B.; Hinze, W. J.

    1985-01-01

    In contrast to the POGO and MAGSAT satellites, the Geopotential Research Mission (GRM) satellite system will orbit at a minimum elevation to provide significantly better resolved lithospheric magnetic anomalies for more detailed and improved geologic analysis. In addition, GRM will measure corresponding gravity anomalies to enhance our understanding of the gravity field for vast regions of the Earth which are largely inaccessible to more conventional surface mapping. Crustal studies will greatly benefit from the dual data sets as modeling has shown that lithospheric sources of long wavelength magnetic anomalies frequently involve density variations which may produce detectable gravity anomalies at satellite elevations. Furthermore, GRM will provide an important replication of lithospheric magnetic anomalies as an aid to identifying and extracting these anomalies from satellite magnetic measurements. The potential benefits to the study of the origin and characterization of the continents and oceans, that may result from the increased GRM resolution are examined.

  1. A prospective observational study of associated anomalies in Hirschsprung’s disease

    PubMed Central

    2013-01-01

    Background Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm. Methods After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included. All families were asked to sign a specific Informed Consent form and in case of acceptance each patient underwent an advanced diagnostic algorithm, including renal ultrasound scan (US), cardiologic assessment with cardiac US, cerebral US, audiometry, ENT and ophthalmologic assessments plus further specialist evaluations based on specific clinical features. Results Male to female ratio of our series of patients was 3,4:1. Aganglionosis was confined to the rectosigmoid colon (classic forms) in 74,5% of cases. We detected 112 associated anomalies in 61 (57,5%) patients. The percentage did not significantly differ according to gender or length of aganglionosis. Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% congenital anomalies of the kidney and urinary tract, 4,7% congenital heart disease, 4,7% hearing impairment or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies. Conclusions Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as hearing impairment and congenital anomalies of the kidney and urinary tract. Subsequently, based on our results we strongly suggest performing renal US and audiometry in all patients. Conversely, ophthalmologic assessment and cerebral and heart US can be performed according to guidelines applied to the

  2. Congenital adrenal hyperplasia

    PubMed Central

    Dessinioti, Cleo; Katsambas, Andreas

    2009-01-01

    Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed. PMID:22523607

  3. Multicystic congenital mesoblastic nephroma.

    PubMed

    Drut, Ricardo

    2002-01-01

    This report describes an unusual example of congenital mesoblastic nephroma cellular variant that presented in a 1-week-old neonate as a multicystic tumor of the kidney. Extensive pseudocystic cavitation resulted from progressive accumulation of ground substance in a loosely myxoid tissue composed of stellate- and spindle-shaped cells that compressed and infiltrated renal tissue. The cells of the tumor were positive for vimentin and smooth muscle actin. The patient is alive and well 16 years after surgery. Differential diagnosis from segmental cystic dysplasia, cystic intralobar nephrogenic rest, cystic nephroma, cystic partially differentiated nephroblastoma, cystic nephroblastoma, and cystic clear cell sarcoma of the kidney, all of which may present at this age, is discussed. PMID:11927972

  4. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  5. Mass Anomalies on Ganymede

    NASA Technical Reports Server (NTRS)

    Schubert, G.; Anderson, J. D.; Jacobson, R. A.; Lau, E. L.; Moore, W. B.; Palguta, J.

    2004-01-01

    Radio Doppler data from two Ganymede encounters (G1 and G2) on the first two orbits in the Galileo mission have been analyzed previously for gravity information . For a satellite in hydrostatic equilibrium, its gravitational field can be modeled adequately by a truncated spherical harmonic series of degree two. However, a fourth degree field is required in order to fit the second Galileo flyby (G2). This need for a higher degree field strongly suggests that Ganymede s gravitational field is perturbed by a gravity anomaly near the G2 closest approach point (79.29 latitude, 123.68 west longitude). In fact, a plot of the Doppler residuals , after removal of the best-fit model for the zero degree term (GM) and the second degree moments (J2 and C22), suggests that if an anomaly exists, it is located downtrack of the closest approach point, closer to the equator.

  6. 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

  7. [Congenital vascular malformations: epidemiology, classification and therapeutic basis].

    PubMed

    Pereira Albino, J

    2010-01-01

    Congenital vascular malformations are part of the rare diseases of angiology and vascular surgery and can present in a variety of forms. They rise a lot of doubts and many diagnostic and therapeutic challenges. Treatment options are widely variable and often debated; surgeons usually have doubts about the best procedure to adopt. It is also an area of great anatomic and functional variability where the confusion regarding the nomenclature and classifications has been frequent, rendering difficult to adopt standardized measures. There have been significant advances in the recent years towards reaching a consensus. Based on his practical clinical experience and past work on these issues, the author reviews the epidemiology, the classifications and the therapeutic basis of this pathology. The author emphasizes the fact that the International Society for the Study of Vascular Anomalies (ISSVA) classification provides a useful framework for classifying vascular anomalies, as well as the therapeutic percutaneous embolization using polidocanol foam to control venous malformations. PMID:20972487

  8. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

    PubMed

    Vogel, Markus; Velleuer, Eunike; Schmidt-Jiménez, Leon F; Mayatepek, Ertan; Borkhardt, Arndt; Alawi, Malik; Kutsche, Kerstin; Kortüm, Fanny

    2016-07-01

    Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21-q22 (HCFP1) and a second to 10q21.3-q22.1 (HCFP2). The only known causative gene for HCFP is HOXB1 (17q21; HCFP3), encoding a homeodomain-containing transcription factor of the HOX gene family, which are master regulators of early developmental processes. The previously reported HOXB1 mutations change arginine 207 to another residue in the homeodomain and alter binding capacity of HOXB1 for transcriptional co-regulators and DNA. We performed whole exome sequencing in HCFP-affected individuals of a large consanguineous Moroccan family. The homozygous nonsense variant c.66C>G/p.(Tyr22*) in HOXB1 was identified in the four patients with HCFP and ear malformations, while healthy family members carried the mutation in the heterozygous state. This is the first disease-associated HOXB1 mutation with a likely loss-of-function effect suggesting that all HOXB1 variants reported so far also have severe impact on activity of this transcriptional regulator. © 2016 Wiley Periodicals, Inc. PMID:27144914

  9. Thoracic involvement in generalised lymphatic anomaly (or lymphangiomatosis).

    PubMed

    Luisi, Francesca; Torre, Olga; Harari, Sergio

    2016-06-01

    Generalised lymphatic anomaly (GLA), also known as lymphangiomatosis, is a rare disease caused by congenital abnormalities of lymphatic development. It usually presents in childhood but can also be diagnosed in adults. GLA encompasses a wide spectrum of clinical manifestations ranging from single-organ involvement to generalised disease. Given the rarity of the disease, most of the information regarding it comes from case reports. To date, no clinical trials concerning treatment are available. This review focuses on thoracic GLA and summarises possible diagnostic and therapeutic approaches. PMID:27246594

  10. Isolated congenital cardiac diverticulum originating from the left ventricular apex: Report of a pediatric case.

    PubMed

    Uysal, Fahrettin; Bostan, Ozlem Mehtap; Toprak, Muhammed Hamza Halil; Signak, Isik Senkaya; Cil, Ergun

    2016-01-01

    Congenital ventricular diverticulum is a rare cardiac anomaly defined as a localized protrusion of the ventricular free wall. Although, it is usually asymptomatic, complications such as embolism, infective endocarditis, and arrhythmias can occur. The diagnosis can be made by echocardiography, cardiac magnetic resonance imaging, or catheter angiography. Surgical resection is the treatment of choice in symptomatic patients, whereas the management of asymptomatic patients often represents a therapeutic dilemma. We report here, a 9-month-old patient with asymptomatic congenital left ventricular (LV) diverticulum associated with epigastric hernia. PMID:27212863

  11. Isolated congenital cardiac diverticulum originating from the left ventricular apex: Report of a pediatric case

    PubMed Central

    Uysal, Fahrettin; Bostan, Ozlem Mehtap; Toprak, Muhammed Hamza Halil; Signak, Isik Senkaya; Cil, Ergun

    2016-01-01

    Congenital ventricular diverticulum is a rare cardiac anomaly defined as a localized protrusion of the ventricular free wall. Although, it is usually asymptomatic, complications such as embolism, infective endocarditis, and arrhythmias can occur. The diagnosis can be made by echocardiography, cardiac magnetic resonance imaging, or catheter angiography. Surgical resection is the treatment of choice in symptomatic patients, whereas the management of asymptomatic patients often represents a therapeutic dilemma. We report here, a 9-month-old patient with asymptomatic congenital left ventricular (LV) diverticulum associated with epigastric hernia. PMID:27212863

  12. Case series on anesthesia for video-assisted thoracoscopic surgery for congenital diaphragmatic hernia in children

    PubMed Central

    Aggarwal, Anurag; Lohani, Rohit; Suresh, Varun

    2016-01-01

    Video-assisted thoracoscopic surgery (VATS) in the pediatric population is a challenging task for any anesthesiologist, moreover considering the high incidence of associated congenital anomalies which are individual predictors of poor prognosis. A thorough preoperative evaluation, knowledge of the physiology of one lung ventilation - pertaining to various methods of lung isolation, individualized meticulous planning, and continuous vigilance to detect any untoward event at the earliest with good communication between the anesthesiology and surgical teams contributes to a safe and successful surgery. We present a case series of anesthetic management of congenital diaphragmatic hernia with VATS. PMID:26957707

  13. Johnson-McMillin Microtia Syndrome: New Additional Family.

    PubMed

    Abdel-Meguid, Nagwa; Gebril, Ola Hosny; Abdelraouf, Ehab Ragaa; Shafie, Mohammed Akmal; Bahgat, Mohammed

    2014-07-01

    Microtia is a congenital anomaly that is found with different prevalence among various populations. The exact etiology of ear anomalies is still unknown. We describe a new additional family with this rare disorder; Johnson-McMillin syndrome (JMS) where mother, son, and distant grandmother have multiple features of JMS in the form of microtia, facial asymmetry, ear malformation, hearing defect, and hypotrichosis. Variable presentations in this family could be referred to phenotype variation supporting an autosomal dominant pattern of inheritance. We observed that the mother was very sad and suffered from feelings of guilt. We found that she had isolated herself from family and community out of fear of being stigmatized and hurt. We concluded that the occurrence of microtia is of public health importance, adhering to traditional marriage customs in Egypt increases women's risk of giving birth to a disabled child, yet the mothers are blamed and shamed for their children's birth defects by their husbands, families, and communities, while the fathers are not stigmatized. PMID:25374870

  14. Density variations and anomalies in palladium compacts

    SciTech Connect

    Back, D.; Jones, T.; Ransick, M.; Walburg, T.; Werkmeister, D.

    1992-05-14

    Low-density compacts of palladium powder have relative densities of about 30{plus_minus}10% TD. The variations in density are of concern for operations such as chemical/hydrogen pump systems because heat, mass, and momentum transport properties can be affected. Variations in density result from the inherent nature and interacting forces of UASA compaction of powder in cylinders. In addition to these expected variations, discontinuous density anomalies, such as cracks or high density ridges, are also found. An anomaly of particular concern was found to resemble a ``steer`s head.`` it is a symmetrical region of low density located at or near the center of a compact. Typically, this region is surrounded by a band of high density, compacted palladium that sometimes exceeds the density of the surrounding compact matrix by a factor of three. This report examines these density variations and anomalies both theoretically and empirically.

  15. Density variations and anomalies in palladium compacts

    SciTech Connect

    Back, D.; Jones, T.; Ransick, M.; Walburg, T.; Werkmeister, D.

    1992-05-14

    Low-density compacts of palladium powder have relative densities of about 30{plus minus}10% TD. The variations in density are of concern for operations such as chemical/hydrogen pump systems because heat, mass, and momentum transport properties can be affected. Variations in density result from the inherent nature and interacting forces of UASA compaction of powder in cylinders. In addition to these expected variations, discontinuous density anomalies, such as cracks or high density ridges, are also found. An anomaly of particular concern was found to resemble a steer's head.'' it is a symmetrical region of low density located at or near the center of a compact. Typically, this region is surrounded by a band of high density, compacted palladium that sometimes exceeds the density of the surrounding compact matrix by a factor of three. This report examines these density variations and anomalies both theoretically and empirically.

  16. The Hubble Space Telescope attitude observer anomaly

    NASA Astrophysics Data System (ADS)

    Van Arsdall, Morgan M.; Ramsey, Patrick R.; Swain, Scott R.

    2006-06-01

    In mid-2004, the Hubble Space Telescope (HST) began experiencing occasional losses of lock during Fine Guidance Sensor (FGS) guide star acquisitions, threatening a potential loss of science. These failures were associated with an increasing disparity between the FGS-derived estimates of gyro bias calculated in orbit day and those calculated in orbit night. Early efforts to mitigate the operational effects of this Attitude Observer Anomaly (AOA) succeeded; however, the magnitude of the anomaly continued to increase at a linear rate and operational problems resumed in mid-2005. Continued analysis led to an additional on-orbit mitigation strategy that succeeded in reducing the AOA signature. Before the investigation could be completed, HST began operations under the life-extending Two Gyro Science mode. This eliminated both the operational effects of and the visibility into the AOA phenomenon. Possible causes of the anomaly at the vehicle system level included component hardware failures, flight software errors in control law processing, distortion of the telescope optical path, and deformation of vehicle structure. Although the mechanism of the AOA was not definitively identified, the Anomaly Review Board (ARB) chartered to investigate the anomaly concluded that the most likely root cause lies within one of HST's 6 rate-integrating gyroscopes. This paper provides a summary of the initial paths of investigation, the analysis and testing performed to attempt to isolate the source, and a review of the findings of the ARB. The possibility of future operational impacts and available methods of on-orbit mitigation are also addressed.

  17. Congenital vascular malformations in scintigraphic evaluation

    PubMed Central

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

  18. [Case of obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome].

    PubMed

    Horioka, Keiko; Kataoka, Keiko; Ooishi, Hiroko; Tsunematsu, Ryousuke; Okugawa, Kaoru; Kobayashi, Hiroaki; Kato, Kiyoko

    2014-03-01

    We report the case of 23 year-old woman with OHVIRA syndrome (obstructed hemivagina and ipisilateral renal anomaly) discovered during management for right renal failure. Non-specific symptoms such as lower abdominal pain, dysmenorrhea, and genital bleeding sometimes occur with congenital uterine anomalies such as this. It is very difficult to diagnose OHVIRA syndrome accurately without ultrasound and magnetic resonance imaging, and patients can develop severe complications as a result of delays in diagnosis: endometriosis, pelvic adhesions, or infertility can occur through backflow of genital bleeding because of vaginal septum. In our patient we managed to avoid severe complications by surgically resecting the vaginal septum. She was treated within an appropriate time frame and without complications. Fortunately, after the surgery she managed to become pregnant in the left side of the uterus. PMID:25000661

  19. 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

  20. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies

    PubMed Central

    Southgate, Laura; Sukalo, Maja; Karountzos, Anastasios S.V.; Taylor, Edward J.; Collinson, Claire S.; Ruddy, Deborah; Snape, Katie M.; Dallapiccola, Bruno; Joss, Shelagh; Brancati, Francesco; Digilio, M. Cristina; Graul-Neumann, Luitgard M.; Salviati, Leonardo; Coerdt, Wiltrud; Jacquemin, Emmanuel; Wuyts, Wim; Zenker, Martin

    2015-01-01

    Background Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. Methods and Results Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in two kindreds in which AOS was segregating as an autosomal dominant trait. Screening a cohort of 52 unrelated AOS subjects, we detected 8 additional unique NOTCH1 mutations, including three de novo amino-acid substitutions, all within the ligand-binding domain. Congenital heart anomalies were noted in 47% (8/17) of NOTCH1-positive probands and affected family members. In leucocyte-derived RNA from subjects harboring NOTCH1 extracellular domain mutations, we observed significant reduction of NOTCH1 expression, suggesting instability and degradation of mutant mRNA transcripts by the cellular machinery. Transient transfection of mutagenized NOTCH1 missense constructs also revealed significant reduction in gene expression. Mutant NOTCH1 expression was associated with down-regulation of the Notch target genes HEY1 and HES1, indicating that NOTCH1-related AOS arises through dysregulation of the Notch signaling pathway. Conclusions These findings highlight a key role for NOTCH1 across a range of developmental anomalies that include cardiac defects, and implicate NOTCH1 haploinsufficiency as a likely molecular mechanism for this group of disorders. PMID:25963545

  1. Congenital neuroblastoma with placental involvement.

    PubMed

    Kume, Ayako; Morikawa, Teppei; Ogawa, Makiko; Yamashita, Aki; Yamaguchi, Shunichi; Fukayama, Masashi

    2014-01-01

    We describe an extremely rare case of congenital neuroblastoma with placental involvement. A fetus with a left abdominal mass detected during ultrasonography at 23 weeks' gestation developed hydrops fetalis by 26 weeks' gestation. The mother developed hypertension at 26 5/7 weeks' gestation. Based on a clinical diagnosis of pregnancy-induced hypertension, labor was induced at 26 6/7 weeks. However, intrauterine fetal death was diagnosed during delivery. Postmortern examination revealed a solid tumor at the site of the left adrenal gland. Histological examination of the tumor revealed dense proliferation of small round tumor cells with sparse cytoplasm and hyperchromatic nuclei. Some tumor-cell complexes contained abundant neurofibrils and Hormer-Wright rosettes were observed. A diagnosis of neuroblastoma of the left adrenal gland was made. The liver was markedly enlarged and was extensively replaced by neuroblastoma cells. In addition, small nests of tumor cells were detected in the blood vessels of various organs including the heart, lung, spleen, kidneys, stomach, small and large intestine, thyroid gland, testis, spinal cord, and bone marrow. Histological examination of the enlarged placenta revealed numerous neuroblastoma cells in the villous fetal capillary spaces. The present case was unusual in that the tumor cells were found not only in the chorionic villi, but also in the intervillous space of the maternal vascular system. However, there was no clinical evidence of maternal metastasis. PMID:25550872

  2. Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

    PubMed Central

    Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

    2013-01-01

    Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

  3. Severe Congenital Obstruction of the Left Main Coronary Artery Coexisting With Supravalvular Aortic Stenosis in Williams Syndrome: A Dangerous Association.

    PubMed

    Szaflik, Katarzyna; Kaźmierczak, Piotr; Moll, Jacek Jan; Moll, Jadwiga Anna

    2016-03-01

    Congenital obstruction of the left main coronary artery is a complicating feature of supravalvular aortic stenosis. We describe an eight-month-old female patient with Williams syndrome, supravalvular aortic stenosis, and branch pulmonary artery stenosis, with concomitant anomaly of severe obstruction of the left coronary artery orifice. PMID:26582765

  4. Complete sternal cleft - A rare congenital malformation and its repair in a 3-month-old boy: A case report.

    PubMed

    Kothari, Paras; Gupta, Abhaya; Patil, Prashant S; Kekre, Geeta; Kamble, Ravi; Dikshit, Kiran Vishesh

    2016-01-01

    Complete midline sternal cleft is a rare congenital anomaly resulting from failed midline ventral fusion of the sternal bars. Very few cases of complete sternal cleft have been described in literature. We present a case of complete sternal cleft in a 3-month-old child. The patient underwent primary closure of the defect using stainless steel wires. PMID:27046980

  5. Congenital Upper Eyelid Coloboma: Embryologic, Nomenclatorial, Nosologic, Etiologic, Pathogenetic, Epidemiologic, Clinical, and Management Perspectives

    PubMed Central

    Abdulhafez, Mohamed H.; Fouad, Yousef A.

    2015-01-01

    Purpose: To review the recent literature and describe the authors’ experience with congenital upper eyelid coloboma. Methods: In this review, we will summarize the embryologic and etiopathogenetic bases of congenital upper eyelid coloboma, and study the published clinical reports. We will also attempt to briefly shed some light on the rarer syndromic curiosities associated with upper eyelid coloboma. Results: Congenital upper eyelid colobomas are one of the few nontraumatic oculoplastic emergencies that may occasionally present in the first few days of life with a corneal ulcer and may even present with impending perforation. They can present with or without corneopalpebral adhesions, may be isolated findings or a part of a larger spectrum of congenital anomalies as in the case of Fraser syndrome or Goldenhar syndrome, or could be associated with other rare curiosities that could challenge the clinician with a huge diagnostic dilemma. Conclusions: Existing literature dealing with congenital colobomas of the upper eyelid is fraught with nosologic problems, confusing etiologies, and overlapping clinical features. We attempted to clarify the salient clinical features, outline the management principles, and until a time in the not-so-distant future where advances in molecular genetic testing would help redefine the etiology and the diverse clinical spectrum of genetic diseases associated with upper eyelid colobomas, we propose a simplified classification scheme based on the relation of the coloboma to the cornea, the presence or absence of systemic features, and all the syndromic and nonsyndromic associations of congenital coloboma of the upper eyelid known today. PMID:25419956

  6. Physicochemical isotope anomalies

    SciTech Connect

    Esat, T.M.

    1988-06-01

    Isotopic composition of refractory elements can be modified, by physical processes such as distillation and sputtering, in unexpected patterns. Distillation enriches the heavy isotopes in the residue and the light isotopes in the vapor. However, current models appear to be inadequate to describe the detailed mass dependence, in particular for large fractionations. Coarse- and fine-grained inclusions from the Allende meteorite exhibit correlated isotope effects in Mg both as mass-dependent fractionation and residual anomalies. This isotope pattern can be duplicated by high temperature distillation in the laboratory. A ubiquitous property of meteoritic inclusions for Mg as well as for most of the other elements, where measurements exist, is mass-dependent fractionation. In contrast, terrestrial materials such as microtektites, tektite buttons as well as lunar orange and green glass spheres have normal Mg isotopic composition. A subset of interplanetary dust particles labelled as chondritic aggregates exhibit excesses in {sup 26}Mg and deuterium anomalies. Sputtering is expected to be a dominant mechanism in the destruction of grains within interstellar dust clouds. An active proto-sun as well as the present solar-wind and solar-flare flux are of sufficient intensity to sputter significant amounts of material. Laboratory experiments in Mg show widespread isotope effects including residual {sup 26}Mg excesses and mass dependent fractionation. It is possible that the {sup 26}Mg excesses in interplanetary dust is related to sputtering by energetic solar-wind particles. The implication if the laboratory distillation and sputtering effects are discussed and contrasted with the anomalies in meteoritic inclusions the other extraterrestrial materials the authors have access to.

  7. Hypercharged anomaly mediation.

    PubMed

    Dermísek, Radovan; Verlinde, Herman; Wang, Lian-Tao

    2008-04-01

    We show that, in string models with the minimal supersymmetric standard model residing on D-branes, the bino mass can be generated in a geometrically separated hidden sector. Hypercharge mediation thus naturally teams up with anomaly mediation. The mixed scenario predicts a distinctive yet viable superpartner spectrum, provided that the ratio alpha between the bino and gravitino mass lies in the range 0.05 < or = |alpha| < or = 0.25 and m(3/2) > or = 35 TeV. We summarize some of the experimental signatures of this scenario. PMID:18517937

  8. Satellite magnetic anomalies over subduction zones - The Aleutian Arc anomaly

    NASA Technical Reports Server (NTRS)

    Clark, S. C.; Frey, H.; Thomas, H. H.

    1985-01-01

    Positive magnetic anomalies seen in MAGSAT average scalar anomaly data overlying some subduction zones can be explained in terms of the magnetization contrast between the cold subducted oceanic slab and the surrounding hotter, nonmagnetic mantle. Three-dimensional modeling studies show that peak anomaly amplitude and location depend on slab length and dip. A model for the Aleutian Arc anomaly matches the general trend of the observed MAGSAT anomaly if a slab thickness of 7 km and a relatively high (induced plus viscous) magnetization contrast of 4 A/m are used. A second source body along the present day continental margin is required to match the observed anomaly in detail, and may be modeled as a relic slab from subduction prior to 60 m.y. ago.

  9. Screening for Critical Congenital Heart Defects with Pulse Oximetry: Medical Aspects.

    PubMed

    Ewer, Andrew K

    2016-09-01

    The detection of newborn babies with potentially life-threatening, critical congenital heart defects (CCHDs) before they collapse or expire remains an important clinical challenge. The absence of physical signs and the difficulty assessing mild cyanosis means that the newborn baby check misses up to a third of babies. Fetal anomaly ultrasound scanning identifies an increasing proportion, but this screen is operator-dependent and therefore highly variable; although some units report very high detection rates, overall most babies with CCHD are still missed. Pulse oximetry screening (POS) is an additional test that meets the criteria for universal screening. POS increases overall detection of CCHD to over 90% and also identifies babies with noncardiac, hypoxemic conditions (such as congenital pneumonia, early-onset sepsis, and pulmonary hypertension), which are usually included in the false positives. There is a wealth of published data on the POS, both in a research setting and more recently in routine clinical practice, and consideration of POS is becoming increasingly widespread particularly among high-income countries. But a degree of controversy still remains, and debate continues regarding the most appropriate time to screen, the most effective screening pathway, and screening outside the well-baby nursery. So, should all newborn babies be screened with POS, if so, when and where should screening take place, what saturations are acceptable, and which conditions are we trying to identify? This review will look at the available evidence and try to suggest the way forward for those considering its introduction into their clinical practice. PMID:27603536

  10. [Congenital lumbar hernia].

    PubMed

    Peláez Mata, D J; Alvarez Muñoz, V; Fernández Jiménez, I; García Crespo, J M; Teixidor de Otto, J L

    1998-07-01

    Hernias in the lumbar region are abdominal wall defects that appear in two possible locations: the superior lumbar triangle of Grynfelt-Lesshaft and the inferior lumbar triangle of Petit. There are 40 cases reported in the pediatric literature, and only 16 are considered congenital, associated with the lumbocostovertebral syndrome and/or meningomyelocele. A new case is presented. A premature newborn with a mass in the left flank that increases when the patient cries and reduces easily. The complementary studies confirm the diagnosis of lumbar hernia and reveal the presence of lumbocostovertebral syndrome associated. At the time of operation a well defined fascial defect at the superior lumbar triangle of Grynfelt-Lesshaft is primarily closed. The diagnosis of lumbar hernia is not difficult to establish but it is necessary the screening of the lumbocostovertebral syndrome. We recommend the surgical treatment before 12 months of age; the objective is to close the defect primarily or to use prosthetic material if necessary. PMID:12602034

  11. Congenital parotid fistula.

    PubMed

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient. PMID:25231049

  12. Congenital Triangular Alopecia.

    PubMed

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  13. Congenital Rhabdomyosarcoma of Shoulder

    PubMed Central

    Khaleghnejad-Tabari, Ahmad; Mirshemirani, Alireza; Rouzrokh, Mohsen; Nariman, Shahin; Hassas-Yeganeh, Shaghayegh; Gharib, Atoosa; Khaleghnejad-Tabari, Nasibeh

    2012-01-01

    A 16-day-old female was referred with congenital swelling on her right shoulder. On examination, there was a hard, round, ecchymotic, nontender, slightly movable, warm and shiny 10x15 cm mass on the right axillary pits which was extended to the right side of neck and chest wall. The mass separated the shoulder from the chest wall causing paralysis of right hand. Chest X-ray, ultrasound and MRI with contrast demonstrated a soft tissue mass suspected to be a hemangioma. The mass rapidly increased in size despite aggressive steroid therapy with rupture and bleeding. On the 45th post natal day the baby was taken to operating room to control the bleeding and if possible total excision of the mass. The mass was separated easily from the surrounding tissue and was excised along with right upper extremity. At the end of surgery the baby had cardiac arrest, and apparently died of Disseminated Intravascular Coagulation (DIC). The final pathology report was Rhabdomyosarcoma (RMS). PMID:25628836

  14. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  15. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action. PMID:19603898

  16. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association

    PubMed Central

    Chen, Yixin; Liu, Zhenlei; Chen, Jia; Zuo, Yuzhi; Liu, Sen; Chen, Weisheng; Liu, Gang; Qiu, Guixing; Giampietro, Philip F; Wu, Nan; Wu, Zhihong

    2016-01-01

    VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60–95% of all VACTERL patients. Recent breakthroughs have suggested that genetic factors play an important role in VACTERL association, especially in those with vertebral phenotypes. In this review, we summarised the genetic studies of the VACTERL association, especially focusing on the genetic aetiology of patients with vertebral anomalies. Furthermore, genetic reports of other syndromes with vertebral phenotypes overlapping with VACTERL association are also included. We aim to provide a further understanding of the genetic aetiology and a better evidence for genetic diagnosis of the association and vertebral anomalies. PMID:27084730

  17. The XXXXY Chromosome Anomaly

    PubMed Central

    Zaleski, Witold A.; Houston, C. Stuart; Pozsonyi, J.; Ying, K. L.

    1966-01-01

    The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter's syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all. Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig's cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter's syndrome. The relationship of this syndrome to Klinefelter's syndrome and to Down's syndrome is discussed. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10Fig. 11Fig. 12Fig. 13Fig. 14Fig. 15 PMID:4222822

  18. Trace anomaly driven inflation

    NASA Astrophysics Data System (ADS)

    Hawking, S. W.; Hertog, T.; Reall, H. S.

    2001-04-01

    This paper investigates Starobinsky's model of inflation driven by the trace anomaly of conformally coupled matter fields. This model does not suffer from the problem of contrived initial conditions that occurs in most models of inflation driven by a scalar field. The universe can be nucleated semiclassically by a cosmological instanton that is much larger than the Planck scale provided there are sufficiently many matter fields. There are two cosmological instantons: the four sphere and a new ``double bubble'' solution. This paper considers a universe nucleated by the four sphere. The AdS/CFT correspondence is used to calculate the correlation function for scalar and tensor metric perturbations during the ensuing de Sitter phase. The analytic structure of the scalar and tensor propagators is discussed in detail. Observational constraints on the model are discussed. Quantum loops of matter fields are shown to strongly suppress short scale metric perturbations, which implies that short distance modifications of gravity would probably not be observable in the cosmic microwave background. This is probably true for any model of inflation provided there are sufficiently many matter fields. This point is illustrated by a comparison of anomaly driven inflation in four dimensions and in a Randall-Sundrum brane-world model.

  19. Automated anomaly detection processor

    NASA Astrophysics Data System (ADS)

    Kraiman, James B.; Arouh, Scott L.; Webb, Michael L.

    2002-07-01

    Robust exploitation of tracking and surveillance data will provide an early warning and cueing capability for military and civilian Law Enforcement Agency operations. This will improve dynamic tasking of limited resources and hence operational efficiency. The challenge is to rapidly identify threat activity within a huge background of noncombatant traffic. We discuss development of an Automated Anomaly Detection Processor (AADP) that exploits multi-INT, multi-sensor tracking and surveillance data to rapidly identify and characterize events and/or objects of military interest, without requiring operators to specify threat behaviors or templates. The AADP has successfully detected an anomaly in traffic patterns in Los Angeles, analyzed ship track data collected during a Fleet Battle Experiment to detect simulated mine laying behavior amongst maritime noncombatants, and is currently under development for surface vessel tracking within the Coast Guard's Vessel Traffic Service to support port security, ship inspection, and harbor traffic control missions, and to monitor medical surveillance databases for early alert of a bioterrorist attack. The AADP can also be integrated into combat simulations to enhance model fidelity of multi-sensor fusion effects in military operations.

  20. Fluctuating nature of an orbital venous-lymphatic anomaly in association with intracranial vascular malformations: a classical presentation.

    PubMed

    Kanagalingam, Sivashakthi; Wyse, Emily; Merbs, Shannath L; Pearl, Monica Smith

    2015-01-01

    Venous-lymphatic anomalies (VLA) are rare and benign congenital lesions of the lymphatic system, composed of endothelial-lined lymphatic cysts. They are most frequently located in the region of the head and neck, and represent 4% of all orbital masses. In those patients with extensive orbital VLAs, a strong association with intracranial vascular anomalies has been reported. Factors known to suddenly increase the size of these lesions include upper respiratory tract infections or intralesional haemorrhage; however, complete spontaneous regression is rare. We report on the classic presentation of a patient with a fluctuating right orbital VLA in association with an intracranial cavernous malformation and intracranial developmental venous anomaly. PMID:26438679