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Sample records for congenital anomalies review

  1. Congenital anomalies of kidney and hand: a review

    PubMed Central

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

    2013-01-01

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

  2. Congenital Vascular Anomalies.

    PubMed

    Gravereaux, Edwin C.; Nguyen, Louis L.; Cunningham, Leslie D.

    2004-04-01

    Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to those causing ischemia, ulceration, hemorrhage, or high-output congestive heart failure. Treatment of large, symptomatic arteriovenous malformations often requires catheter-directed embolization prior to the attempt at complete surgical excision. Later recurrence, due to collateral recruitment, is frequent. Graded compression stockings and leg elevation are the mainstays of treatment for the predominantly venous congenital vascular anomalies. Most congenital central venous disorders are clinically silent. An exception is the retrocaval ureter. Retroaortic left renal vein, circumaortic venous ring, and absent, left-sided or duplicated inferior vena cava are relevant when aortic or inferior vena cava procedures are planned. The treatment of the venous disorders is directed at prevention or management of symptoms. Persistent sciatic artery, popliteal entrapment syndrome, and aberrant right subclavian artery origin are congenital anomalies that are typically symptomatic at presentation. Because they mimic more common diseases, diagnosis is frequently delayed. Delay can result in significant morbidity for the patient. Failure to make the diagnosis of persistent sciatic artery and popliteal entrapment can result in critical limb ischemia and subsequent amputation. Unrecognized aberrant right subclavian artery origin associated with aneurysmal degeneration can rupture and result in death. The treatment options for large-vessel arterial anomalies are surgical, sometimes in combination with endovascular techniques.

  3. Congenital uterine anomalies affecting reproduction.

    PubMed

    Reichman, David E; Laufer, Marc R

    2010-04-01

    The following review seeks to summarise the current data regarding reproductive outcomes associated with congenital uterine anomalies. Such malformations originate from adverse embryologic events ranging from agenesis to lateral and vertical fusion defects. Associated renal anomalies are common both for the symmetric and asymmetric malformations. While fertility is minimally impacted upon by müllerian anomalies in most cases, such malformations have historically been associated with poor obstetric outcomes such as recurrent miscarriage, second trimester loss, preterm delivery, malpresentation and intrauterine foetal demise (IUFD). The following review delineates the existing literature regarding such outcomes and indicates therapies, where applicable, to optimise the care of such patients.

  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. The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review

    PubMed Central

    Chan, Y.Y.; Jayaprakasan, K.; Zamora, J.; Thornton, J.G.; Raine-Fenning, N.; Coomarasamy, A.

    2011-01-01

    BACKGROUND The prevalence of congenital uterine anomalies in high-risk women is unclear, as several different diagnostic approaches have been applied to different groups of patients. This review aims to evaluate the prevalence of such anomalies in unselected populations and in women with infertility, including those undergoing IVF treatment, women with a history of miscarriage, women with infertility and recurrent miscarriage combined, and women with a history of preterm delivery. METHODS Searches of MEDLINE, EMBASE, Web of Science and the Cochrane register were performed. Study selection and data extraction were conducted independently by two reviewers. Studies were grouped into those that used ‘optimal’ and ‘suboptimal’ tests for uterine anomalies. Meta-analyses were performed to establish the prevalence of uterine anomalies and their subtypes within the various populations. RESULTS We identified 94 observational studies comprising 89 861 women. The prevalence of uterine anomalies diagnosed by optimal tests was 5.5% [95% confidence interval (CI), 3.5–8.5] in the unselected population, 8.0% (95% CI, 5.3–12) in infertile women, 13.3% (95% CI, 8.9–20.0) in those with a history of miscarriage and 24.5% (95% CI, 18.3–32.8) in those with miscarriage and infertility. Arcuate uterus is most common in the unselected population (3.9%; 95% CI, 2.1–7.1), and its prevalence is not increased in high-risk groups. In contrast, septate uterus is the most common anomaly in high-risk populations. CONCLUSIONS Women with a history of miscarriage or miscarriage and infertility have higher prevalence of congenital uterine anomalies compared with the unselected population. PMID:21705770

  6. Congenital Anomalies of the Limbs

    PubMed Central

    Gingras, G.; Mongeau, M.; Moreault, P.; Dupuis, M.; Hebert, B.; Corriveau, C.

    1964-01-01

    As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females). In this paper, Part I, the medical and prosthetic aspects are dealt with and a form of management is described for each type of anomaly. The conclusions are reached that prosthetic fitting and training should be initiated very early in life and that co-operation of the parent is essential to successful habilitation of a child with congenital limb anomalies. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7 PMID:14154297

  7. Alberta Congenital Anomalies Surveillance System.

    PubMed Central

    Lowry, R B; Thunem, N Y; Anderson-Redick, S

    1989-01-01

    The Alberta Congenital Anomalies Surveillance System was started in 1966 in response to the thalidomide tragedy earlier in the decade. It was one of four provincial surveillance systems on which the federal government relied for baseline statistics of congenital anomalies. The government now collects data from six provinces and one territory. The Alberta Congenital Anomaly Surveillance System originally depended on three types of notification to the Division of Vital Statistics, Department of Health, Government of Alberta: birth notice and certificates of death and stillbirth; increased sources of ascertainment have greatly improved data quality. We present the data for 1980-86 and compare the prevalence rates of selected anomalies with the rates from three other surveillance systems. Surveillance systems do not guarantee that a new teratogen will be detected, but they are extremely valuable for testing hypotheses regarding causation. At the very least they provide baseline data with which to compare any deviation or trend. For many, if not most, congenital anomalies total prevention is not possible; however, surveillance systems can be used to measure progress in prevention. PMID:2819634

  8. Congenital anomalies in the baboon (Papio spp.)

    PubMed Central

    Fox, Benjamin; Owston, Michael A.; Kumar, Shyamesh; Dick, Edward J.

    2011-01-01

    Background A comprehensive survey of the prevalence of congenital anomalies in baboons has not been previously reported. We report the congenital anomalies observed over a 26-year period in a large captive baboon colony. Methods A computer search was performed for all baboon congenital anomalies identified at necropsy and recorded on necropsy submissions. Results We identified 198 congenital anomalies in 166 baboons from 9,972 necropsies (1.66% of total necropsies). The nervous, urogenital, musculoskeletal, and cardiovascular systems were most commonly affected. The most common organs affected were the brain, bone, heart, testicle, kidney, penis, aorta, and skeletal muscle. The most frequent congenital anomalies were blindness, seizures, and hydrocephalus. Conclusions The baboon has an overall frequency of congenital anomalies similar to humans and other nonhuman primates. Although the most frequently affected systems are similar, congenital anomalies involving the digestive system appear to be less common in the baboon. PMID:21332757

  9. 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

  10. 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

  11. An uncommon congenital anomaly of the ribs

    PubMed Central

    Padmanabhan, Arjun; Zunimol, Mohamed Puthiyaveettil

    2016-01-01

    Intrathoracic rib is an extremely rare congenital anomaly of the ribs. Here, we present the case of a 10-year-old boy with asthma who, on routine evaluation, was found to have this anomaly. PMID:27051123

  12. [Congenital uterine anomalies: diagnosis, prognosis and management in 2008].

    PubMed

    Rossier, Marie-Claude; Bays, Virginie; Vial, Yvan; Achtari, Chahin

    2008-10-22

    The müllerian anomalies or congenital uterine anomalies are relatively frequent if we keep in mind that 3-4% of our female patients present with a müllerian anomaly, although many among them are asymptomatic. It is important to evoke this diagnosis for all patients with a history of recurrent miscarriage, late abortion and premature delivery, for the adolescent consulting for primary amenorrhea, dysmenorrhea or dyspareunia as well as for the woman consulting for infertility. We will review pathogenesis, diagnostic methods, standard classification with a description of the different types of congenital uterine anomalies and the recommended management.

  13. 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

  14. Congenital Anomalies of the Aortic Arch: Evaluation with the Use of Multidetector Computed Tomography

    PubMed Central

    Büyükbayraktar, Fatma Gül; Ölçer, Tülay; Cumhur, Turhan

    2009-01-01

    Congenital anomalies of the aortic arch have clinical importance, as the anomalies may be associated with vascular rings or other congenital cardiovascular diseases. Multidetector computed tomography (MDCT) angiography enables one to display the detailed anatomy of vascular structures and the spatial relationships with adjacent organs; this ability is the greatest advantage of the use of MDCT angiography in comparison to other imaging modalities in the evaluation of the congenital anomalies of the aortic arch. In this review article, we illustrate 16-slice MDCT angiography appearances of congenital anomalies of the aortic arch. PMID:19270864

  15. 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. PMID:27625883

  16. Congenital optic nerve anomalies and hereditary optic neuropathies.

    PubMed

    Heidary, Gena

    2014-12-01

    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. PMID:27625883

  17. 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

  18. 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

  19. 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

  20. An unusual congenital facial anomaly: erectile proboscis-like structure.

    PubMed

    Mutaf, Mehmet; Isik, Dağhan; Büyükgüral, Berker

    2006-07-01

    We report a 3-week-old male infant with an unusual congenital facial anomaly, which is characterized by a proboscis-like erectile structure arising from the right malar region. Although it is a tubular structure resembling the proboscis lateralis, this case was more likely to be a new congenital anomaly because of the following reasons: (1) in contrast with the proboscis lateralis, which originates from the medial portion of the orbital roof, the structure was located at the right malar region in our case; (2) although it was soft and freely dangling on the face, this proboscis-like structure was strongly erectile, with contraction of the orbicularis oculi muscle when the infant cried; (3) histopathological examination revealed that the structure was composed by normal fibroadipose tissue and striated muscle covered with a healthy skin and subcutaneous tissue. In contrast with histopathological characteristics of a proboscis lateralis, there was neither osteocartilaginous tissue nor mucosa in the structure. Although it is a typical finding for a proboscis lateralis, no lumen was found in the presented anomaly. Because of these unique characteristics, which remarkably differ from previously reported facial anomalies, we thought this case worth reporting. A literature review revealed that no similar case has been reported in the literature. PMID:16799319

  1. A Description of Congenital Anomalies Among Infants in Entebbe, Uganda

    PubMed Central

    Ndibazza, Juliet; Lule, Swaib; Nampijja, Margaret; Mpairwe, Harriet; Oduru, Gloria; Kiggundu, Molly; Akello, Miriam; Muhangi, Lawrence; Elliott, Alison M

    2011-01-01

    BACKGROUND: Data on congenital anomalies from developing countries of the sub-Saharan region are scarce. However, it is important to have comprehensive and reliable data on the description and prevalence of congenital anomalies to allow surveillance and the implementation of appropriate public health strategies for prevention and management. In this study, we describe the profile of congenital anomalies seen in a birth cohort in Entebbe, Uganda. METHODS: Congenital anomalies were defined as any structural defect present at birth. Pregnant women were recruited to the cohort between 2003 and 2005. Defects present at birth were recorded by the midwife at delivery and by physicians at the routine six-week postnatal visit and at illness-related visits until 1 year of life. The anomalies were classified by organ system according to the 10th version of the World Health Organization International Classification of Diseases (ICD-10). RESULTS: There were 180 infants with a congenital anomaly among 2365 births. The most commonly affected systems were the musculoskeletal (42.7 per 1000 births) and skin (16.1 per 1000 births). The prevalence of major anomalies was 20.3 per 1000 births; 1.7 per 1000 births for cardiac anomalies and 1.3 per 1000 births for neural system anomalies. Forty (22%) of the congenital anomalies were identified at birth, 131 (73%) at the 6-week postnatal visit, and nine (5%) at illness-related visits. CONCLUSION: Congenital anomalies are common in developing countries. Establishment of comprehensive databases for surveillance would be helpful for surveillance of effects of new exposures, for prevention, management, and health care planning. Birth Defects Research (Part A) 2011. © 2011 Wiley-Liss, Inc. PMID:21770020

  2. 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

  3. Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies.

    PubMed

    Tsitouridis, Ioannis; Michaelides, Michael; Tsantiridis, Christos; Spyridi, Styliani; Arvanity, Mary; Efstratiou, Ioannis

    2010-06-01

    Congenital cystic eye (anophthalmia with cyst) is an extremely rare anomaly discovered at birth with few reported cases in the literature, resulting from partial or complete failure during invagination of the primary optic vesicle during fetal development. Herein we present the radiographic, ultrasound, and magnetic resonance imaging findings of a unique case of congenital cystic eye associated with dermal appendages and advanced intracranial congenital anomalies in a 3-month-old boy.

  4. Prevalence of congenital eye anomalies in a paediatric clinic in Ghana.

    PubMed

    Ilechie, A A; Essuman, V A; Enyionam, S

    2014-01-09

    There is little information about the epidemiology of congenital eye anomalies in Ghana. We retrospectively reviewed the clinical records of 485 admissions to the paediatric eye centre of the Korle-Bu Teaching Hospital, Ghana (2004-2009) and 263 were diagnosed with at least one anomaly. Visual acuity was quantitatively assessed in 209 patients and 130 had some visual impairment; 49 with bilateral and 64 with unilateral blindness. The most frequent congenital anomaly overall was cataract (n = 44). In infants, cataract was the most frequent finding (28/121). Toddlers most frequently presented with retinoblastoma (10/65). Glaucoma was the most frequent anomaly in preschool (9/39) and school (10/38) children. We conclude that avoidable causes of childhood blindness caused most congenital eye anomalies. Intensification of community-based health promotion and preventive eye care, early detection and provision of adequate resources for effective therapy could reverse these trends.

  5. 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

  6. 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.

  7. 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

  8. 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

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

    PubMed

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

    2014-12-15

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

  10. 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

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

    PubMed

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

    2015-01-01

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

  12. 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

  13. 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

  14. 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.

  15. 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.

  16. 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

  17. 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

  18. Dramatically different dizygotic twins: will we include them in Research? Twin research reviews: congenital anomalies, mirror-image effects in conjoined twins, older mothers of twins; Twin statistics: 'Massachusetts, land of twins'; Tribute: Dr Victor A. McKusick.

    PubMed

    Segal, Nancy L

    2008-10-01

    The increased frequency of interracial marriage is a likely source of unusual-looking dizygotic (DZ) twins. Some members of DZ twin pairs born to mixed-race couples inherit very different physical features from their parents. This raises several questions, such as: Will researchers wish to include such twins in their ongoing studies? Next, new twin research concerned with congenital anomalies, mirror-image effects in conjoined twins and older mothers of twins will be reviewed. New statistics on twinning rates in Massachusetts will also be summarized, followed by a tribute to the late medical geneticist Dr. Victor A. McKusick.

  19. Maternal water consumption during pregnancy and congenital cardiac anomalies

    SciTech Connect

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

    1990-05-01

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

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

    PubMed

    Murakami, Arata

    2011-07-01

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

  1. 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.

  2. 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

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

    PubMed

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

    2016-01-01

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

  4. 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

  5. Fournier's gangrene in a child with congenital genitourinary anomalies.

    PubMed

    Cundy, Thomas P; Boucaut, Hilary A P; Kirby, Christopher P

    2012-04-01

    Fournier's gangrene is a rare urologic emergency in childhood that requires prompt diagnosis to deliver definitive and supportive care. Host susceptibility risk factors differ between adult and pediatric age groups with affected children usually otherwise systemically healthy. We present a case of Fournier's gangrene in a 2-year-old, from a genitourinary source of sepsis secondary to previously unreported genitourinary anatomical anomalies of congenital buried penis and hypospadias. Illustrative applied anatomy identifies the pathogenesis of this case, aiding recognition and understanding of this rapidly progressive and destructive pathology.

  6. Imaging diagnosis of congenital brain anomalies and injuries.

    PubMed

    Pooh, Ritsuko K

    2012-12-01

    Fetal brain is rapidly developing and changing its appearance week by week during pregnancy. The brain is the most important organ but it is quite hard to observe detailed structure of this organ by conventional transabdominal sonography. Transvaginal high-resolution ultrasound and three-dimensional (3D) ultrasound has been a great diagnostic tool for evaluation of three-dimensional structure of fetal central nervous system (CNS). This method has contributed to the prenatal assessment of congenital CNS anomalies, intracranial vascular anomalies and acquired brain damage in utero. It is possible to observe the whole brain structure by magnetic resonance imaging in the post half of pregnancy but transvaginal high-resolution 3D ultrasound is certainly powerful modality as well for understanding brain anatomy. Longitudinally and carefully evaluation of neurological short- or long-term prognosis should be required according to precise prenatal diagnosis, for proper counseling and management based on precise evidence.

  7. 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

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

    PubMed

    Bähr, C; Distl, O

    2005-04-01

    The study gives a short survey of the literature of frequently observed congenital anomalies in cattle and refers to data on cases of congenital anomalies registered in a veterinary practice over a period of 8 years and in an AI (artificial insemination) station of the Rinder-Union West (RUW) during 4 years. The frequency of congenital anomalies was estimated at 0.013% in the area of the RUW. In the veterinary practice a frequency of 0.51% was found. The most prevalent anomalies were seen in legs (39% in the veterinary practice and 21% in RUW) followed by congenital anomalies of the spine (9% in the veterinary practice and 17% in RUW). Arthrogryposes were most frequent among the anomalies of the legs with 65% (veterinary practice) and 39% (RUW), respectively, of all cases of registered leg anomalies in the respective area. Umbilical hernia and atresia of segments of the intestinum were seen in 8-30% of all registered cases. The frequency of congenital anomalies differed not significantly among paternal half sib groups. A questionnaire was proposed for the registration of congenital anomalies in progeny tests of AI bulls. A series of photographs showing the most prevalent congenital anomalies is supporting the registration form. PMID:15900680

  9. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

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

  10. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

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

  11. 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…

  12. Review on possible gravitational anomalies

    NASA Astrophysics Data System (ADS)

    Amador, Xavier E.

    2005-01-01

    This is an updated introductory review of 2 possible gravitational anomalies that has attracted part of the Scientific community: the Allais effect that occur during solar eclipses, and the Pioneer 10 spacecraft anomaly, experimented also by Pioneer 11 and Ulysses spacecrafts. It seems that, to date, no satisfactory conventional explanation exist to these phenomena, and this suggests that possible new physics will be needed to account for them. The main purpose of this review is to announce 3 other new measurements that will be carried on during the 2005 solar eclipses in Panama and Colombia (Apr. 8) and in Portugal (Oct.15).

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

    PubMed

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

    2015-12-01

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

  14. A study of associated congenital anomalies with biliary atresia

    PubMed Central

    Gupta, Lucky; Bhatnagar, Veereshwar

    2016-01-01

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

  15. 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

  16. Computed tomography and magnetic resonance imaging of the coronary sinus: anatomic variants and congenital anomalies.

    PubMed

    Chen, Yingming Amy; Nguyen, Elsie T; Dennie, Carole; Wald, Rachel M; Crean, Andrew M; Yoo, Shi-Joon; Jimenez-Juan, Laura

    2014-10-01

    The coronary sinus (CS) is an important vascular structure that allows for access into the coronary veins in multiple interventional cardiology procedures, including catheter ablation of arrhythmias, pacemaker implantation and retrograde cardioplegia. The success of these procedures is facilitated by the knowledge of the CS anatomy, in particular the recognition of its variants and anomalies. This pictorial essay reviews the spectrum of CS anomalies, with particular attention to the distinction between clinically benign variants and life-threatening defects. Emphasis will be placed on the important role of cardiac CT and cardiovascular magnetic resonance in providing detailed anatomic and functional information of the CS and its relationship to surrounding cardiac structures. Teaching Points • Cardiac CT and cardiovascular magnetic resonance offer 3D high-resolution mapping of the coronary sinus in pre-surgical planning.• Congenital coronary sinus enlargement occurs in the presence or absence of a left-to-right shunt.• Lack of recognition of coronary sinus anomalies can lead to adverse outcomes in cardiac procedures.• In coronary sinus ostial atresia, coronary venous drainage to the atria occurs via Thebesian or septal veins.• Coronary sinus diverticulum is a congenital outpouching of the coronary sinus and may predispose to cardiac arrhythmias.

  17. 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

  18. [Congenital anomalies of coronary artery origin: a diagnostic challenge].

    PubMed

    Iñiguez Romo, A; Macaya Miquel, C; Alfonso Monterola, F; San Román Calvar, J A; Goikolea Ruiz-Gómez, J; Zarco Gutiérrez, P

    1991-03-01

    From a series of 4,313 consecutive patients who underwent a diagnostic coronary angiogram, 16 (0.37%) presented a congenital anomalous origin of the coronary arteries. None of these patients had other congenital cardiac anomalies associated. Age was 57 +/- 9 years and 13 (81%) were male. The diagnostic catheterization was performed for unstable angina in 8 patients (50%), for stable angina in five (32%), for dyspnea in two and for atypical chest pain in the remaining patient. A previous myocardial infarction was present in 6 patients (37%) whereas one patient had apical hypertrophic cardiomyopathy. We observed absence of coronary lesions in 4 patients and severe coronary stenosis lesions in 12 patients (75%), five of those with lesions located in the anomalous vessel. The most frequent abnormality found was an anomalous origin of left circumflex coronary artery in 8 cases (50%), followed by an abnormal origin of the right coronary artery in 5 cases (31%), and an abnormal origin of the left coronary tree in 3 cases (19%) (left anterior descending coronary artery arising from the right coronary artery, a single coronary artery which originated in the left coronary sinus, and a left main coronary artery which originated in the noncoronary sinus). The relationship of the anomalous coronary artery to the great vessels was the following: A retro-aortic course in 11 patient (69%), by the anterior free wall in two (12.5%), interarterial in two (12.5%), and septal in one (6%). Finally, as an index of the difficulty to visualize the anomalous coronary artery, an unusual catheter was needed in six (37%) of the diagnostic procedures to reach the target vessel.(ABSTRACT TRUNCATED AT 250 WORDS)

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2014-12-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were significantly more likely to have a cardiac anomaly compared to male babies (47.6% compared with 40.4%, P < 0.001) and significantly less likely to have a non-cardiac anomaly (12.9% compared with 16.7%, P < 0.001). The prevalence of cardiac and non-cardiac congenital anomalies in babies with Down syndrome has remained constant, suggesting that population screening for Down syndrome and subsequent terminations has not influenced the prevalence of specific congenital anomalies in these babies.

  1. 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.

  2. 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

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

    PubMed Central

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

    2008-01-01

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

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

    PubMed

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

    2015-12-01

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

  5. 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

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

    PubMed

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

    2003-06-01

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

  7. [Environmental and hygienic aspects of the prevalence of congenital anomalies in Primorskiĭ territory].

    PubMed

    Kiku, P F; Voronin, S V; Gel'tser, B I; Anan'ev, V Iu

    2011-01-01

    The authors have conducted an environmental and hygienic evaluation of the prevalence of congenital anomalies in the Primorye Territory. It has been found that there is a considerable rise in congenital anomalies in children and adolescents, which is predicted for the coming 5 years. The prevalence of congenital anomalies in the region depends on the bioclimatic zone and environmental situation. The highest incidence of the pathology is observed in the children living in the coastal bioclimatic zone and in the adolescents in the critical environmental areas of the continental bioclimatic zone. A combination of sanitary-and-hygienic and natural climatic factors was found to influence the incidence of congenital malformations differently. The sanitary-and-hygienic parameters of an inhabitancy play a leading role (44.5-63.1%).

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed

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

    2013-12-01

    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. PMID:27625856

  10. 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

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

    PubMed Central

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

    2014-01-01

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

  12. 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

  13. 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

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2014-01-01

    FG syndrome is a rare X-linked multiple congenital anomaly-cognitive impairment disorder caused by the p.R961W mutation in the MED12 gene. We identified all known patients with this mutation to delineate their clinical phenotype and devise a clinical algorithm to facilitate molecular diagnosis. We ascertained 23 males with the p.R961W mutation in MED12 from 9 previously reported FG syndrome families and 1 new family. Six patients are reviewed in detail. These 23 patients were compared with 48 MED12 mutation-negative patients, who had the clinical diagnosis of FG syndrome. Traits that best discriminated between these two groups were chosen to develop an algorithm with high sensitivity and specificity for the p.R961W MED12 mutation. FG syndrome has a recognizable dysmorphic phenotype with a high incidence of congenital anomalies. A family history of X-linked mental retardation, deceased male infants, and/or multiple fetal losses was documented in all families. The algorithm identifies the p.R961W MED12 mutation-positive group with 100% sensitivity and 90% spec-ificity. The clinical phenotype of FG syndrome defines a recognizable pattern of X-linked multiple congenital anomalies and cognitive impairment. This algorithm can assist the clinician in selecting the patients for testing who are most likely to have the recurrent p.R961W MED12 mutation. PMID:19938245

  16. Stillbirth Risk Among Fetuses With Ultrasound-Detected Isolated Congenital Anomalies

    PubMed Central

    Frey, Heather A.; Odibo, Anthony O.; Dicke, Jeffrey M.; Shanks, Anthony L.; Macones, George A.; Cahill, Alison G.

    2014-01-01

    Objective To estimate the risk of stillbirth among pregnancies complicated by a major isolated congenital anomaly detected by antenatal ultrasound, and the influence of incidental growth restriction. Methods A retrospective cohort study of all consecutive singleton pregnancies undergoing routine anatomic survey between 1990 and 2009 was performed. Stillbirth rates among fetuses with an ultrasound-detected isolated major congenital anomaly were compared to fetuses without major anomalies. Stillbirth rates were calculated per 1,000 ongoing pregnancies. Exclusion criteria included delivery prior to 24 weeks of gestation, multiple fetal anomalies, minor anomalies and chromosomal abnormalities. Analyses were stratified by gestational age at delivery (prior to 32 weeks vs. 32 weeks of gestation or after) and birth weight less than the 10th percentile. We adjusted for confounders using logistic regression. Results Among 65,308 singleton pregnancies delivered at 24 weeks of gestation or after, 873 pregnancies with an isolated major congenital anomaly (1.3%) were identified. The overall stillbirth rate among fetuses with a major anomaly was 55/1,000 compared to 4/1,000 in nonanomalous fetuses (aOR 15.17, 95% CI 11.03–20.86). Stillbirth risk in anomalous fetuses was similar prior to 32 weeks of gestation (26/1,000) and 32 weeks of gestation or after (31/1,000). Among growth-restricted fetuses, the stillbirth rate increased among anomalous (127/1,000) and nonanomalous fetuses (18/1,000), and congenital anomalies remained associated with higher rates of stillbirth (aOR 8.20, 95% CI 5.27–12.74). Conclusion The stillbirth rate is increased in anomalous fetuses regardless of incidental growth restriction. These risks can assist practitioners designing care plans for anomalous fetuses who have elevated and competing risks of stillbirth and neonatal death. PMID:24901272

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

    PubMed

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

    2014-04-27

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

  18. Study of the Association between the Incidences of Congenital Anomalies and Hydrocephalus in Sudanese Fetuses

    PubMed Central

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

    2014-01-01

    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

  19. [Cynocephali and Blemmyae. Congenital anomalies and medieval exotic races].

    PubMed

    Bos, C A; Baljet, B

    1999-12-18

    In the mediaeval Dutch manuscript Der naturen bloeme ('On the flowers of nature') by Jacob van Maerlant (circa 1230-circa 1296), an encyclopaedia of descriptions of people, animals, plants and minerals dating from about 1270, many illustrations refer to the text. An intriguing part of the book is called 'Vreemde volkeren' ('Exotic people'). In another manuscript of Van Maerlant, Dit is die istory van Troyen ('The history of Troyes') in the chapter 'De wonderen van het Verre Oosten' ('The miracles of the Far East') the exotic people are also described. These exotic people have many features similar to congenital malformations. 'Hippopodes' are probably based on the lobster claw syndrome, 'Cynocephali' on anencephaly, 'Arimaspi' on cyclopia, 'Blemmyae' on acardiacus, the double-faced on diprosopus, 'Sciopods' on polydactyly and 'Antipodes' on the sirenomelia sequence.

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

    PubMed

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

    2016-07-01

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

  1. Reproductive impact of congenital Müllerian anomalies.

    PubMed

    Raga, F; Bauset, C; Remohi, J; Bonilla-Musoles, F; Simón, C; Pellicer, A

    1997-10-01

    This retrospective longitudinal study was undertaken in order to determine the incidence and reproductive impact of uterine malformations on women desiring to conceive during their reproductive years. A total of 3181 patients in whom the morphology of the uterus was ascertained by hysterosalpingography (HSG) and laparoscopy/laparotomy during the years 1980-1995 was included in the study. The population analysed included fertile, infertile and sterile patients. The overall frequency of uterine malformations was 4.0%. Infertile patients (6.3%) had a significantly (P < 0.05) higher incidence of Müllerian anomalies, in comparison with fertile (3.8%) and sterile (2.4%) women. Septate (33.6%) and arcuate (32.8%) uteri were the most common malformations observed. Each malformation was individually analysed in fertile and infertile patients, in order to ascertain its actual reproductive impact. The performance of the unicornuate and didelphys uteri was similar with a chance of having a living child of 37-40%. The reproductive potential of the bicornuate uterus showed a live birth rate of 62.5% and the septate uterus showed a live birth rate of 62%. In all these abnormalities, early miscarriages (25-38%) and preterm deliveries (25-47%) were quite common. The arcuate uterus presented a live birth rate of 82.7%. It is concluded that uterine anomalies are relatively frequent in fertile women, and more frequent in infertile patients. Nevertheless, fertile patients with normal reproductive performance do exist, and Müllerian defects can permit an absolutely normal obstetric outcome. The reproductive performance of the unicornuate and didelphys uteri was poor, while that of the septate and bicornuate uteri was better than expected. The arcuate uterus had no impact on reproduction.

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

    PubMed

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

    2012-12-01

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

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

    PubMed

    Szczałuba, Krzysztof; Śmigiel, Robert

    2015-01-01

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

  4. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.

    PubMed

    Nakashima, Mitsuko; Kashii, Hirofumi; Murakami, Yoshiko; Kato, Mitsuhiro; Tsurusaki, Yoshinori; Miyake, Noriko; Kubota, Masaya; Kinoshita, Taroh; Saitsu, Hirotomo; Matsumoto, Naomichi

    2014-08-01

    Recessive mutations in genes of the glycosylphosphatidylinositol (GPI)-anchor synthesis pathway have been demonstrated as causative of GPI deficiency disorders associated with intellectual disability, seizures, and diverse congenital anomalies. We performed whole exome sequencing in a patient with progressive encephalopathies and multiple dysmorphism with hypophosphatasia and identified novel compound heterozygous mutations, c.250G>T (p. Glu84*) and c.1342C>T (p. Arg488Trp), in PIGT encoding a subunit of the GPI transamidase complex. The surface expression of GPI-anchored proteins (GPI-APs) on patient granulocytes was lower than that of healthy controls. Transfection of the Arg488Trp mutant PIGT construct, but not the Glu84* mutant, into PIGT-deficient cells partially restored the expression of GPI-APs DAF and CD59. These results indicate that PIGT mutations caused neurological impairment and multiple congenital anomalies in this patient.

  5. 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

  6. Prenatal diagnosis of congenital anomalies. What can and should be done?

    PubMed Central

    Langer, J. C.

    1993-01-01

    Prenatal diagnosis of congenital anomalies provides an opportunity to prepare and counsel parents. It can lead to pregnancy termination; to a change in timing, mode, or location of delivery; or, in some cases, to prenatal intervention. Families with an affected fetus are best managed by a cohesive medical team. This article outlines the principles used to manage these cases. Images Figures 1-3 Figures 4-5 PMID:8471905

  7. 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

  8. 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

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

    PubMed Central

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

    2015-01-01

    Background Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs). However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero. Methods Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs) and confidence intervals (CIs) for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I2 tests. Results Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU), methimazole/carbimazole (MMI/CMZ), and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42), 1.64 (95%CI: 1.39-1.92), and 1.83 (95%CI: 1.30-2.56) for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively. Conclusions The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly. PMID:25974033

  10. Correlation between serum biochemical markers and early amniocentesis in diagnosis of congenital fetal anomalies.

    PubMed

    Loncar, Dragan; Varjacic, Mirjana; Novakovic, Tanja; Milovanovic, Dragan; Jankovic, Slobodan

    2010-02-01

    A combined test performed at the 12th week of gestation enables us to classify the pregnancy as high risk (risk higher than 1:300) or low risk (risk lower than 1:300) for congenital foetal anomalies, with great accuracy of 85 - 90%. According to the available data, the frequency of false positive results is estimated at around 5%. The objective of the study was to examine possible correlation between the serum marker values and amniocentesis results in prenatal diagnostics of congenital foetal anomalies. The study included 745 pregnant women monitored by the Genetic Counselling Service of the Clinic of Gynaecology and Obstetrics of the Clinics Centre Kragujevac. The subjects were included in the study under condition that CRL (embryonic crown-rump length) was from 45 to 84 mm and that the gestational age was at 11-13+6 weeks. Free beta HCG and PAPP-A were determined from venous blood using commercial DPS-USA tests. Tests were based on the analytic principle of the immuno-chemiluminescence technique and were performed by application of the automatic Immulite 2000 analyzer by DPC-USA. The foetal nuchal translucency thickness (NT) and CRL were measured by Colour Doppler. The chromosome identification was performed after a certain number of cell divisions by stopping the cell division in metaphase of mitosis when the chromosomes were the most distinguishable. The foetal karyotype was prepared using G bands. In the total sample of pregnant women (n=745), there were six cases of pathological foetal karyotype. A statistical paradox in the frequency of congenital foetal anomalies in favour of younger population was noticed. A high coefficient of Spearman's rank correlation suggests great importance of the combined test in the detection of congenital foetal anomalies (p<0,05). A high consistency was also proved for components of biochemical screening and ultrasonographic markers. The combined test, as a method of prenatal screening in the first trimester of pregnancy, if

  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. Pattern of congenital anomalies in newborn: a hospital-based study

    PubMed Central

    El Koumi, Mohamed A.; Al Banna, Ehab A.; Lebda, Ibrahim

    2013-01-01

    Birth defects, encountered frequently by pediatricians, are important causes of childhood morbidity and mortality. Birth defects can be classified according to their severity, pathogenic mechanism, or whether they are involving a single system or multiple systems. This hospital-based prospective descriptive study highlights the prevalence of Congenital Anomalies (CAs) in one year among live born neonates delivered in Zagazig University Hospital (Egypt). All women giving birth to viable babies were included. Demographic details, associated risk factors and the type of CAs in all babies were recorded. Diagnosis of CAs was based on clinical evaluation, radiographic examination, ultrasonography, echocardiography and chromosomal analysis of the newborn whenever recommended. The overall incidence of CAs among live born neonates was 2.5%, as most of the cases were referred to Zagazig University Hospital (Egypt) for delivery. The musculoskeletal system (23%) was the most commonly involved followed by the central nervous system (20.3%). Involvement of more than one system was observed in (28.6%) cases. Among maternal and fetal risk factors; parental consanguinity, maternal under nutrition and obesity, positive history of an anomaly in the family, low birth weight, and prematurity were significantly associated with higher frequency of CAs (P<0.05), with non-significant differences for maternal age and the sex of the neonates. The current study highlights the prevalence of congenital anomalies in one year in Zagazig University Hospital. It revealed a high prevalence of congenital anomalies in our locality and stressed the importance of carrying out a thorough clinical examination of all neonates at birth. PMID:23667734

  13. Hazard potential ranking of hazardous waste landfill sites and risk of congenital anomalies

    PubMed Central

    Vrijheid, M; Dolk, H; Armstrong, B; Boschi, G; Busby, A; Jorgensen, T; Pointer, P

    2002-01-01

    Background: A 33% increase in the risk of congenital anomalies has been found among residents near hazardous waste landfill sites in a European collaborative study (EUROHAZCON). Aims: To develop and evaluate an expert panel scoring method of the hazard potential of EUROHAZCON landfill sites, and to investigate whether sites classified as posing a greater potential hazard are those with a greater risk of congenital anomaly among nearby residents relative to more distant residents. Methods: A total of 1270 cases of congenital anomaly and 2308 non-malformed control births were selected in 14 study areas around 20 landfill sites. An expert panel of four landfill specialists scored each site in three categories—overall, water, and air hazard—based on readily available, documented data on site characteristics. Tertiles of the average ranking scores defined low, medium, and high hazard sites. Calculation of odds ratios was based on distance of residence from the sites, comparing a 0–3 km "proximate" with a 3–7 km "distant" zone. Results: Agreement between experts measured by intraclass correlation coefficients was 0.50, 0.44, and 0.20 for overall, water, and air hazard before a consensus meeting and 0.60, 0.56, and 0.53 respectively after this meeting. There was no evidence for a trend of increasing odds ratios with increasing overall hazard or air hazard. For non-chromosomal anomalies, odds ratios by water hazard category showed an increasing trend of borderline statistical significance (p = 0.06) from 0.79 in the low hazard category, 1.43 in the medium, to 1.60 in the high water hazard category. Conclusions: There is little evidence for a relation between risk of congenital anomaly in proximate relative to distant zones and hazard potential of landfill sites as classified by the expert panel, but without external validation of the hazard potential scoring method interpretation is difficult. Potential misclassification of sites may have reduced our ability to

  14. 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.

  15. 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

  16. Pyrrolizidine Alkaloids: Potential Role in the Etiology of Cancers, Pulmonary Hypertension, Congenital Anomalies, and Liver Disease.

    PubMed

    Edgar, John A; Molyneux, Russell J; Colegate, Steven M

    2015-01-20

    Large outbreaks of acute food-related poisoning, characterized by hepatic sinusoidal obstruction syndrome, hemorrhagic necrosis, and rapid liver failure, occur on a regular basis in some countries. They are caused by 1,2-dehydropyrrolizidine alkaloids contaminating locally grown grain. Similar acute poisoning can also result from deliberate or accidental consumption of 1,2-dehydropyrrolizidine alkaloid-containing herbal medicines, teas, and spices. In recent years, it has been confirmed that there is also significant, low-level dietary exposure to 1,2-dehydropyrrolizidine alkaloids in many countries due to consumption of common foods such as honey, milk, eggs, salads, and meat. The level of 1,2-dehydropyrrolizidine alkaloids in these foods is generally too low and too intermittent to cause acute toxicity. However, these alkaloids are genotoxic and can cause slowly developing chronic diseases such as pulmonary arterial hypertension, cancers, cirrhosis, and congenital anomalies, conditions unlikely to be easily linked with dietary exposure to 1,2-dehydropyrrolizidine alkaloids, especially if clinicians are unaware that such dietary exposure is occurring. This Perspective provides a comprehensive review of the acute and chronic toxicity of 1,2-dehydropyrrolizidine alkaloids and their potential to initiate certain chronic diseases, and suggests some associative considerations or indicators to assist in recognizing specific cases of diseases that may have resulted from dietary exposure to these hazardous natural substances. If it can be established that low-level dietary exposure to 1,2-dehydropyrrolizidine alkaloids is a significant cause of some of these costly and debilitating diseases, then this should lead to initiatives to reduce the level of these alkaloids in the food chain.

  17. Congenital Heart Diseases in Adults: A Review of Echocardiogram Records in Enugu, South-East Nigeria

    PubMed Central

    Ejim, EC; Anisiuba, BC; Oguanobi, NI; Ubani-Ukoma, BC; Nwaneli, UC; Ugwu, C; Ike, SO

    2014-01-01

    Background: Congenital abnormalities of the heart and cardiovascular system are reported in almost 1% of live births, and about half of these children need medical or surgical help in infancy. In the first decade, a further 25% require surgery to maintain or improve their life. Only 10% survive to adolescence without treatment. Of these 10%, however, many live a normal life for years before their abnormality is discovered. Aim: The aim of this study was to find the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, and to determine whether there are any gender differences in frequency. Materials and Methods: The consecutive echocardiogram reports of 5058 adults done over a period of 9 years (2003-2012) were retrospectively reviewed. All adults who had congenital anomaly on transthoracic echocardiography were included in the study. Results: Congenital heart diseases were found in 115 adults representing 2.5% of the adult population (115/4539). The most common congenital anomalies were ventricular septal defects (VSD) - 31.3%, (36/115), atrial septal defects - 28.7% (33/115) and tetralogy of fallot - 10.4% (12/115). Conclusion: VSD are the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, Nigeria. PMID:25221697

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

    PubMed

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

    2012-08-01

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

  19. Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.

    PubMed

    Nelson, Marc; Quinonez, Shane; Ackley, Todd; Iyer, Ram K; Innis, Jeffrey W

    2011-03-01

    We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT-proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. Using high resolution chromosomal microarray analysis, we identified a de novo deletion of 555 kb on chromosome 16p13.3, 444 kb telomeric to the CREBBP gene and 623 kb centromeric of PKD1. Review of the literature revealed numerous reports of individuals with deletions involving adjacent regions including CREBBP, but only one overlapping with this isolated region of 16p13.3. Haploinsufficiency for one or more of the 25 candidate genes in the deleted genomic region may be responsible for these clinical features. No copy number variants (CNVs) span the entire region, but several small CNVs within the 555 kb genomic region reduce the likelihood for effects due to haploinsufficiency to 18 genes.

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

    PubMed

    Vazharova, Radoslava; Vragaleva, Svetlana; Dimitrova, Violeta; Ivanov, Samuil; Balabanski, Lubomir; Malinov, Maxim; Toncheva, Draga

    2016-01-01

    Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.). The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS. PMID:27642530

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

    PubMed Central

    Vragaleva, Svetlana; Ivanov, Samuil; Malinov, Maxim

    2016-01-01

    Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.). The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS. PMID:27642530

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

    PubMed Central

    Vragaleva, Svetlana; Ivanov, Samuil; Malinov, Maxim

    2016-01-01

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

  3. [Characteristics of ischemic stroke in patients with congenital anomalies of the circle of Willis].

    PubMed

    Popova, E N; Vishniakova, M V; Maratkanova, T V; Sherman, L A; Kotov, S V; Isakova, E V

    2011-01-01

    The study included 76 patients with ischemic stroke in the carotid system (56 patients) and in the vertebrobasilar system (20 patients). The magnetic resonance angiography (MRA) revealed congenital anomalies of Willis circle in 31 patients. These anomalies were stratified as follows: back trifurcation of the internal carotid artery (ICA) (19 patients), anterior trifurcation of the ICA (4 patients), the combination of anterior trifurcation of the one of ICA and posterior trifurcation of the other ICA (4 patients), double back trifurcation of ICA (2 patients), the normal structure of the circle of Willis (45 patients). Patients with anomalies of the circle of Willis scored significantly higher on the Neurological deficit scale NIH-NINDS. Despite the lack of significant differences in the size of lesions in 2 groups, the foci in patients with the abnormalities of the circle of Willis were frequently localized in adjacent blood supply zones. The signs of vascular encephalopathy were seen as well. The data obtained suggest that the presence of anomalies in the circle of Willis is a risk factor, together with in the additional adversities, including iatrogenic factor, for the development of hemodynamic ischemic stroke.

  4. 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

  5. Classification of congenital anomalies of the hand and upper limb: development and assessment of a new system.

    PubMed

    Tonkin, Michael A; Tolerton, Sarah K; Quick, Tom J; Harvey, Isaac; Lawson, Richard D; Smith, Nicholas C; Oberg, Kerby C

    2013-09-01

    The Oberg, Manske, and Tonkin (OMT) classification of congenital hand and upper limb anomalies was proposed in 2010 as a replacement for the Swanson International Federation of Societies for Surgery of the Hand classification system, which has been the accepted system of classification for the international surgical community since 1976. The OMT system separates malformations from deformations and dysplasias. Malformations are subdivided according to the axis of formation and differentiation that is primarily affected and whether the anomalies involve the whole limb or the hand plate. This review outlines the development of classification systems and explores the difficulty of incorporating our current knowledge of limb embryogenesis at a molecular level into current systems. An assessment of the efficacy of the OMT classification demonstrates acceptable inter- and intraobserver reliability. A prospective review of 101 patients confirms that all diagnoses could be classified within the OMT system. Consensus expert opinion allowed classification of those conditions for which there is not a clear understanding of the mechanism of dysmorphology. A refined and expanded OMT classification is presented.

  6. 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

  7. 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

  8. Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease (Abernethy malformation): A case report and literature review

    PubMed Central

    HAO, YABIN; HONG, XU; ZHAO, XINYAN

    2015-01-01

    Abernethy malformation is a rare congenital malformation defined by an extrahepatic portosystemic shunt. The majority of affected patients are young (<18 years of age) and experience various symptoms, including vomiting, jaundice, dyspnea and coma. The current study presents a case of Abernethy malformation in an asymptomatic adult male patient. The patient exhibited congenital absence of the portal vein, congenital heart disease (postoperative ventricular septal defect status), and multiple liver lesions, confirmed to be focal nodular hyperplasia by biopsy. Ultrasonography and magnetic resonance imaging findings revealing the liver lesions, type II congenital absence of the portal vein and the portosystemic shunt are presented. In addition, the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder are investigated by reviewing 101 previously reported cases. PMID:25624897

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

    PubMed

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

    2016-02-01

    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

  10. 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

  11. Prenatal diagnosis of congenital anomalies requiring surgical correction. Implications for the future.

    PubMed

    Dibbins, A W; Curci, M R; McCrann, D J

    1985-04-01

    With the use of maternal ultrasonography, 22 infants had an anomaly identified before delivery. Nine had gastrochisis. In all, ultrasonography was performed because of an elevated maternal serum alpha 1 fetoprotein level. Ultrasonography for other indications identified three infants with omphaloceles, three with cystic adenomatoid malformation of the lung, two with duodenal atresia, two with posterior urethral valves, and one each with obstruction of the ureteropelvic junction, a retroperitoneal teratoma, and an ovarian cyst. Infants were delivered in a neonatal center able to provide total care from the time of birth, thus the risks of transport over long distances were avoided. One of the infants with cystic adenomatoid malformation was incorrectly diagnosed as having a congenital diaphragmatic hernia, and the complete posterior urethral valve bilateral hydronephrosis complex was not identified in this infant until after delivery. The ability to diagnose complex anomalies correctly places new responsibilities on the surgeon who must counsel the parents on his ability to successfully treat the identified anomaly. Improved diagnostic accuracy, increased case findings, careful counselling, and delivery of high-risk infants in regional centers must be major priorities to improve neonatal surgical care in the next decade.

  12. 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…

  13. 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…

  14. Associations between chromosomal anomalies and congenital heart defects: a database search.

    PubMed

    van Karnebeek, C D; Hennekam, R C

    1999-05-21

    Recent technical advances in molecular biology and cytogenetics, as well as a more developmental approach to congenital heart disorders (CHDs), have led to considerable progress in our understanding of their pathogenesis, especially of the important causative role of genetic factors. The complex embryology of the heart suggests the involvement of numerous genes, and hence, numerous chromosomal loci, such as the recently identified 22q11, in normal cardiomorphogenesis. In order to identify other loci, the Human Cytogenetics DataBase was searched for all chromosome anomalies associated with CHD. Through the application of several (arbitrary) criteria we have selected associations occurring so frequently that they may not be forfuituous, suggesting assignment of a gene or genes responsible for specific CHDs to certain chromosome regions. The results of this study may be a first step in the detection of specific chromosome defects responsible for CHD, which will be useful in daily patient care and may provide clues for further cytogenetic and molecular studies.

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

    PubMed

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

    2014-10-01

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

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

    PubMed

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

    2016-01-01

    Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days. PMID:27659091

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

    PubMed

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

    2016-01-01

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

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

    PubMed

    Adeloye, A; Warkany, J

    1976-01-01

    A review was made of experimental methods available to produce congenital hydrocephalus by teratogenic methods. Radiation, infections, trypan blue, hypervitaminosis A, salicylates and nutritional deficiencies were considered. In the course of prenatal zinc deficiency experiments, congenital hydrocephalus was frequently encountered and histologic sections were made of many representative specimens. Details of the findings are described, among them various types of aqueduct stenosis or obileration. Although these anomalies suggest that occlusion of the aqueduct is the cause of the enlargement of the ventricular system it was noted that there was also ventricular dilatation caudal to the stenotic point of the aqueduct. Hydrocephalus without aqueductal stenosis has also been observed in experimental animals. It seems possible that some cases of congenital hydrocephalus attributed to aqueductal stenosis are examples of hydrocephalus with secondary block of the aqueduct. PMID:1022424

  19. 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

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

    PubMed

    Zheng, Zhengui; Armfield, Brooke A; Cohn, Martin J

    2015-12-29

    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.

  1. 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

  2. Unusual congenital aortic anomaly with rare common celiamesenteric trunk variation: MR angiography and digital substraction angiography findings.

    PubMed

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

    2007-01-01

    Magnetic resonance angiography and digital substraction angiography (DSA) findings in a case with a rare congenital thoracoabdominal aortic hypoplasia and common celiamesenteric trunk variation with occlusion of infrarenal abdominal aorta are described here. To our knowledge, this aortic anomaly has not been previously described in the English literature. DSA is the optimum imaging modality for determination of aortic hypoplasia, associated vascular malformations, collateral vessels, and direction of flow within vessels. PMID:17468907

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

    SciTech Connect

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

    2007-09-15

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

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

    PubMed

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

    2012-01-01

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

  5. The pattern of pregnancy loss in women with congenital uterine anomalies and recurrent miscarriage.

    PubMed

    Saravelos, Sotirios H; Cocksedge, Karen A; Li, Tin-Chiu

    2010-03-01

    Congenital uterine anomalies (CUA) are a known cause of recurrent miscarriage (RM), but the pattern of pregnancy loss that different CUA produce remains unknown. This study included 665 women with RM who were screened for CUA using a combined two-dimensional ultrasound (2D-US) and hysterosalpingography (HSG) approach. All suspected CUA were definitively diagnosed and classified via a combined hysteroscopy/laparoscopy procedure. Pregnancy outcomes were evaluated and compared for each type of CUA versus a control group of women with no identifiable cause of RM (unexplained RM). Fifty-six women with CUA and 107 women with unexplained RM were identified. In total, 881 pregnancies were analysed. Analysis showed that women with a septate or bicornuate uterus suffered from significantly increased second-trimester miscarriages compared with controls (13.2% and 13.8% versus 1.0%; P<0.001 and P<0.05, respectively). Women with an arcuate, septate or bicornuate uterus showed significantly reduced rates of biochemical pregnancy losses compared with controls (9.5%, 11.1% and 11.1% versus 30.4%; P<0.01, P<0.01 and P<0.05, respectively). Pregnancies of women with RM and CUA are not associated with early implantation failure and are compromised at a more advanced gestational age.

  6. 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

  7. Oral contraceptive use after conception in relation to the risk of congenital urinary tract anomalies.

    PubMed

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

    1995-01-01

    The authors conducted a case-control study of the relation of OC use after conception to the occurrence of congenital urinary tract anomalies (CUTAs). Singleton CUTA cases with no known chromosomal abnormality from seven counties in western Washington State born during the period January 1, 1990-December 31, 1991 were identified through the Washington State Birth Defect Registry. Controls without birth defects were randomly selected from singleton births that occurred in the same year as the cases in five large hospitals in King County. Mothers of the 118 cases and 369 controls were interviewed to obtain their contraceptive history as well as other information. Mothers of nine cases (7.6%) and eight controls (2.2%) had taken OCs at some time during the pregnancy. After adjustment for birth year and county of maternal residence, OC use after conception was associated with an almost five-fold increased risk of having a baby with a CUTA [odds ratio (OR) = 4.8, 95 percent confidence interval (CI), 1.6-14.1] relative to no contraception at or after conception. Use of other contraceptive methods after conception was not related to the risk of CUTAs. OC use during the 3 or 6 months prior to the conception also was not associated with the risk of CUTAs. Further adjustment for sociodemographic factors, reproductive history, perinatal exposure to exogenous agents, and past OC use did not change the results, nor did restricting the analysis to residents of King County.(ABSTRACT TRUNCATED AT 250 WORDS)

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

    PubMed Central

    Sridhar, K.

    2009-01-01

    An extensive community-based survey of visible congenital defects covering 12.8 million children in rural Tamil Nadu state was conducted during the years 2004–05. A door-to-door survey was done utilizing the existing health care delivery system. More than 10,000 village health nurses were involved to collect the data. All children between the ages of 0 and 15 years were seen. The children with defects were seen by a medical officer and diagnosis was made as per chart. A total of 1.30% of children were born with some visible anomalies. The male:female ratio was 1.3:1. There was a family history in 9% and consanguinity in 32%. More than 5% mothers had taken some medication in the first trimester of pregnancy out of which anti-convulsants were 3.4%. Facial clefts showed a lower incidence of 1 in 1976 live births with peak incidence between March and June. Cleft palate alone showed a higher percentage (30%) than other studies. PMID:19884674

  9. 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

  10. 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

  11. 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.

  12. [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

  13. 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

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

    PubMed

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

    2014-02-05

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

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2011-05-01

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

  17. 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

  18. 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

  19. Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

    PubMed Central

    2010-01-01

    Background The ultraconserved elements (UCEs) are defined as stretches of at least 200 base pairs of human DNA that match identically with corresponding regions in the mouse and rat genomes, albeit their real significance remains an intriguing issue. These elements are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development. Interestingly, human UCEs have been reported to be strongly depleted among segmental duplications and benign copy number variants (CNVs). However no comprehensive survey of a putative enrichment of these elements among pathogenic dose variants has yet been reported. Results A survey for UCEs was performed among the 26 cryptic genomic rearrangements detected in our series of 200 patients with idiopathic neurodevelopmental disorders associated to congenital anomalies. A total of 29 elements, out of the 481 described UCEs, were contained in 13 of the 26 pathogenic gains or losses detected in our series, what represents a highly significant enrichment of ultraconserved elements. In addition, here we show that these elements are preferentially found in pathogenic deletions (enrichment ratio 3.6 vs. 0.5 in duplications), and that this association is not related with a higher content of genes. In contrast, pathogenic CNVs lacking UCEs showed almost a threefold higher content in genes. Conclusions We propose that these elements may be interpreted as hallmarks for dose-sensitive genes, particularly for those genes whose gain or loss may be directly implied in neurodevelopmental disorders. Therefore, their presence in genomic imbalances of unknown effect might be suggestive of a clinically relevant condition. PMID:21092253

  20. Congenital malformations of the uterus: the role of ultrasound.

    PubMed

    Puscheck, Elizabeth E; Cohen, Leeber

    2008-05-01

    Congenital uterine anomalies in women often do not cause any symptoms, except when there is an obstruction of the uterine outflow tract, which occurs infrequently. Patients with congenital uterine anomalies often go undetected or are only discovered incidentally during an evaluation for something else. Consequently, it is difficult to determine the prevalence of congenital uterine anomalies in the general population, and it appears more frequently in certain populations, namely in those with recurrent pregnancy loss or infertility. This paper will review the pathogenesis of congenital uterine anomalies and the standard classification for these anomalies. We will focus on ultrasound and other diagnostic modalities (hysterosalpingogram, laparoscopy with hysteroscopy, and magnetic resonance imaging). We will compare the accuracy and differences between these diagnostic techniques. With the development of three-dimensional ultrasound, the diagnosis of congenital uterine anomalies can be made accurately, effectively, and with less invasiveness than with other procedures. We will briefly review the treatments and pregnancy outcomes in these different anomalies.

  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. 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

  3. 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.

  4. Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

    PubMed

    Garavelli, L; Pedori, S; Dal Zotto, R; Franchi, F; Marinelli, M; Croci, G F; Bellato, S; Ammenti, A; Virdis, R; Banchini, G; Superti-Furga, A

    2006-01-01

    Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature.

  5. 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

  6. AB086. Chromosomal microarray analysis—detection of both duplication and deletion in patients with multiple congenital anomalies and/or developmental delay

    PubMed Central

    Ee, Hui Jing; Yon, Hui Yi; Tan, Mui Li; Roch, Robin; Brett, Maggie; Yong, Min Hwee; Law, Hai Yang; Lai, Angeline

    2015-01-01

    Background and objective Chromosomal microarray analysis (CMA) is recommended as first-tier genetic testing for patients with multiple congenital anomalies, developmental delay/intellectual disability and/or autism spectrum disorder. It detects chromosomal imbalance at a higher resolution than conventional chromosomal analysis. CMA diagnostic service was launched in our hospital in February 2014. The aim of this report is to review the incidence of detecting both duplication and deletion in patients referred for this test. Methods DNA was extracted using Gentra Puregene Blood Kit. CMA was performed using the Agilent 4×180 K CGH + SNP array and analysed with Agilent CytoGenomics. G-banding analysis was carried out on stimulated lymphocytes culture. Targeted fluorescence in-situ hybridization (FISH) was performed using locus specific probes. Results From 1 February 2014 to 31 May 2015, a total of 205 patients were tested. Seven (3.4%) were identified to have both duplication and deletion of chromosomal segments that were pathogenic [5] or of uncertain clinical significance [2]. We present a case of a 1-day-old Chinese girl with oligohydramnios, prematurity (35+5 weeks) and multiple congenital anomalies including heart defect, cleft palate, ear anomalies, microcephaly, vaginal skin tag, bilateral clinodactyly and wide anterior fontanelle. Karyotyping and FISH analysis for 22q11 deletion were normal. CMA revealed a pathogenic gain of 2.143 Mb at 16p13.3 and a pathogenic loss of 0.271 Mb at 16q24.2q24.3. The gain at 16p13.3 affects 67 genes including CREBBP. The 16p13.3 duplication syndrome is a contiguous gene syndrome characterized by normal to moderate intellectual disability, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs, characteristic facial features and occasionally, developmental defects of the heart, genitalia, palate or eyes. The 0.271 Mb deletion at 16q24.3 affects four genes including ANKRD11 and CDH15. The clinical

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

    PubMed Central

    Rakhshan, Vahid

    2015-01-01

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

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

    PubMed

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

    2016-07-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-07-01

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

  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.

  13. 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

  14. Congenital dislocation of the hip. A review.

    PubMed

    Sherk, H H; Pasquariello, P S; Watters, W C

    1981-08-01

    Congenital dislocation of the hip usually results from capsular stretching caused by fetal malposition and crouching late in the third trimester. Early recognition of hip dislocation or instability soon after birth permits prompt treatment. Ortolani's and Barlow's maneuvers, respectively, reduce into and displace from the acetabulum a femoral head that is insecurely contained therein. The diagnosis of CDH in the first month of life usually depends on these clinical components of the physical examination of the newborn, because similar device, in this age group can usually maintain the displaced hip in sufficient flexion and abduction to permit reduction and normal development. By 3 months of age, the nuclei of the pelvis and upper femur have ossified enough to permit radiologic diagnosis of CDH. Problems related to treatment increase as the child grows older. In infants up to 6 months of age, closed methods with a harness usually succeed. Beyond 6 months, the soft tissues shorten and prevent easy reduction. These patients almost always require pre-reduction traction. An adductor tenotomy also facilitates reduction and apparently lessens compressive forces on the femoral head, an important consideration in preventing avascular necrosis of the head. Children over 1 year old develop bony changes, such as excessive femoral valgus and anteversion and deformity of the acetabulum. Treatment in these patients requires realignment of bony deformities with femoral or pelvic osteotomies in addition to the measures noted previously. The gentleness and high success rate of early treatment make early diagnosis of CDH an important consideration in infants and newborns.

  15. 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

  16. 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

  17. Anomalies

    NASA Astrophysics Data System (ADS)

    Deo, Nivedita

    1988-12-01

    This thesis studies the structure of local and global anomalies in certain systems and examines the conditions for their cancellation. Gauge anomalies-abelian and non -albelian-antisymmetric tensor, and gravitational anomalies in simple spinor theories with background fields have been analyzed by perturbative methods and local counterterms have been constructed to cancel the anomalies wherever possible. Anomalies occurring in supersymmetric theories in (2 + 1)-dimensions have also been calculated using both perturbative and heat kernel techniques, here again counterterms have been constructed to cancel these parity violating anomalies for certain gauge field configurations. (i) For gauge theories in four dimensions which contain couplings of fermions to a non-abelian antisymmetric tensor field, the contribution of the later to anomalies in the non-abelian chiral Ward identity is computed. It is shown by explicit construction of suitable counterterms that these anomalies can all be cancelled. (ii) The gauge anomalies associated with the gravitational fields in abelian gauge theories can be completely removed provided torsion is nonzero. This is shown by constructing a counterterm associated with the gravitational Goldstone-Wilczek current which cancels the anomalous gravitational contribution to the chiral Ward identity without introducing anomalies in the Lorentz or Einstein Ward identities. (iii) Using perturbative BPHZ renormalization techniques the parity odd part of the effective action has been extracted and explicitly determined for abitrary non-abelian gauge superfields in odd dimensions and shown to be the supersymmetric Chern -Simons secondary topological invariant. (iv) Schwinger's proper time technique is generalized to supersymmetric theories in odd dimensions. The effective action for supersymmetric QED is exactly found for space-time constant superfield. The parity violating anomaly induced in the effective action can be cancelled by adding a local

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

    PubMed Central

    Greenwood, Dean; Bogar, William

    2014-01-01

    Congenital scoliosis due to vertebral anomalies may occur in less than 0.1% of the population. Several different theories have been put forth in the literature to account for the etiology of congenital scoliosis and the vertebral anomalies which contribute to its development. The study of scoliosis in twins has contributed to the understanding of causative factors including genetics, environment and in utero events during embryologic development. Case reports of fraternal (non-identical) juvenile male twins with congenital scoliosis associated with differing congenital vertebral anomalies are presented. Both children were asymptomatic at the time of the initial consultation and showed no signs of neurologic compromise. Rapidly progressive, severe genetic scoliosis requires prudent observation and referral to a pediatric orthopedic surgeon to determine appropriate options for care and to screen for potentially life threatening disorders. Chiropractors may be seen as gatekeepers for scoliosis and a thorough understanding of appropriate standards of care is required. PMID:25202158

  19. 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

  20. 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.

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

    ERIC Educational Resources Information Center

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

    2014-01-01

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

  2. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p

    SciTech Connect

    Leichtman, L.G.; Zackowski, J.L.; Storto, P.D.; Newlin, A.

    1996-06-14

    Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.

  3. Parenting an infant with a congenital anomaly: how are perceived burden and perceived personal benefits related to parenting stress?

    PubMed

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

    2015-03-01

    This study aimed to characterize parents' negative (perceived burden) and positive (perceived personal benefits) perceptions about parenting an infant with a congenital anomaly (CA), and to investigate their role in parenting stress. Forty-three couples (43 mothers and 36 fathers) whose 6-month-old infants had a CA completed several questionnaires: the Impact on Family Scale-Revised, the Positive Contributions Scale, and the Parenting Stress Index-Short Form. The results showed similarities between maternal and paternal perceptions. For mothers, higher levels of burden and lower levels of personal benefits were found to predict higher levels of parenting stress. For fathers, greater burden was associated with higher levels of parenting stress. Some dimensions of personal benefits moderated the relationship between burden and parenting stress, for both genders. Specific strategies targeting negative and positive perceptions should be considered when developing psychological interventions to promote the family's adaptation to the experience of parenting an infant with a CA.

  4. Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.

    PubMed

    Tos, T; Karaman, A; Aksoy, A; Tukun, A

    2012-01-01

    Chromosomal abnormalities are a major cause of mental retardation and/or multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. The objective of this study was to report standard chromosome analysis and FISH screening of a series of 24 patients with MCA/MR. Structural chromosomal abnormalities were detected in 24 alterations and included 5 deletions, 2 duplications, 6 unbalanced translocations, 3 inversions, 2 insertions, 3 derivative chromosomes, 2 marker chromosomes and 1 isochromosome. We confirm that a high percentage of MCA/MR cases hitherto considered idiopathic is caused by chromosomal imbalances. We conclude that patients with MCA/MR should be routinely karyotyped.

  5. 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

  6. Parenting an infant with a congenital anomaly: how are perceived burden and perceived personal benefits related to parenting stress?

    PubMed

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

    2015-03-01

    This study aimed to characterize parents' negative (perceived burden) and positive (perceived personal benefits) perceptions about parenting an infant with a congenital anomaly (CA), and to investigate their role in parenting stress. Forty-three couples (43 mothers and 36 fathers) whose 6-month-old infants had a CA completed several questionnaires: the Impact on Family Scale-Revised, the Positive Contributions Scale, and the Parenting Stress Index-Short Form. The results showed similarities between maternal and paternal perceptions. For mothers, higher levels of burden and lower levels of personal benefits were found to predict higher levels of parenting stress. For fathers, greater burden was associated with higher levels of parenting stress. Some dimensions of personal benefits moderated the relationship between burden and parenting stress, for both genders. Specific strategies targeting negative and positive perceptions should be considered when developing psychological interventions to promote the family's adaptation to the experience of parenting an infant with a CA. PMID:25614325

  7. [Congenital anomalies of the kidney and urinary tract. A vision for the paediatrician].

    PubMed

    Palacios Loro, M L; Segura Ramírez, D K; Ordoñez Álvarez, F A; Santos Rodríguez, F

    2015-12-01

    The congenital abnormalities of kidney and urinary tract (CAKUT) are disorders with a high prevalence in the general population, with urinary tract dilations being the most frequent. CAKUT also account for the most important cause of chronic kidney disease in childhood. This paper focuses on the role of the primary care paediatrician in the diagnosis, assessment, and follow-up of children with CAKUT, with special emphasis on the associated urinary tract infections, the progression toward chronic renal failure, and the genetic basis.

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

    PubMed

    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.

  9. Delayed Case of Congenital Bilateral Trigger Thumb: A Case Report and Review of Literature

    PubMed Central

    Rekha, Y Bhanu

    2014-01-01

    Introduction: Congenital trigger thumb is an uncommon anomaly of children. Its management is controversial, ranging from observation to extensive surgical release. We report a case of delayed presentation of bilateral trigger thumb along with a brief review of past literature. Case Report: A six year old girl presented with fixed flexion deformity of interphalangeal joints of both thumbs and Notta’s nodules. It is diagnosed as trigger thumb and release of bilateral A1pulleys is done. But we found another constricting annular pulley just distal to A1. Only after splitting the distal pulley, we could get complete extension of interphalangeal joints. At two years follow-up, the child is free of complications. Conclusion: Splitting of A1 pulley alone may not be sufficient in few cases of trigger thumb which may require distal release too PMID:27298940

  10. 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

  11. Congenital and acquired perilymph fistula: review of the literature.

    PubMed

    Roman, S; Bourliere-Najean, B; Triglia, J M

    1998-08-01

    Perilymph fistula is caused by an abnormal communication between the perilymph space and the middle ear. The etiology is either congenital or acquired. The congenital fistula can be associated or not with clinical symptoms or radiologically detectable abnormalities of the temporal bone. In patients presenting congenital fistula without symptoms or radiologically detectable abnormalities, little malformations of the middle ear may be detected during surgery. The acquired fistula can be caused by iatrogenic trauma, physical injury or erosion. As far as therapy is concerned, surgical treatment can be performed and the perilymph fistula thus represents one of the few causes of sensorineural hearing loss that can be treated surgically. However, the main challenge is the identification of those patients that need to undergo an exploratory tympanotomy, since there are no clinical-audiologic symptoms or radiographic indicators that can be considered pathognomonic of perilymph fistula. The aim of this review of the literature is to define the guidelines for preoperative diagnosis to indicate exploratory tympanotomy both in children and in adults. On the basis of our results, exploratory tympanotomy should be performed in patients with vertigo and/or progressive, sudden or fluctuating hearing loss in association with one or more than one of the following elements: a history of cranial trauma, radiographically detectable abnormalities of the inner ear, congenital malformations of the head, recurring meningitis, positive fistula test. The surgical treatment consists in placing a graft of temporalis fascia or tragal perichondrium and it usually results in a significant improvement of vestibular symptoms and sometimes of the hearing function as well.

  12. [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

  13. A review of the economics of adult congenital heart disease.

    PubMed

    Seckeler, Michael D; Thomas, Ian D; Andrews, Jennifer; Joiner, Keith; Klewer, Scott E

    2016-01-01

    Adults living with congenital heart disease (CHD) now outnumber children with the disease. Thanks to medical advances over the past 75 years, many of these fatal childhood heart problems have changed to chronic medical conditions. As the population of adults with CHD increases, they will require increasingly complex medical, surgical and catheter-based therapies. In addition, social burdens including education, employment and insurability, which increase the societal costs of adult CHD, are now being recognized for adults living with CHD. This review summarizes the available literature on the economics of adult CHD.

  14. Congenital cardiac anomalies in relation to water contamination, Santa Clara County, California, 1981-1983

    SciTech Connect

    Swan, S.H.; Shaw, G.; Harris, J.A.; Neutra, R.R.

    1989-05-01

    In November 1981, a leak of solvents from an underground storage tank was detected at an electronics manufacturing plant in Santa Clara County, California. Solvents (predominantly 1,1,1-trichloroethene, or methyl chloroform) were found in a nearby well which supplied drinking water to the surrounding community. Residents were concerned about a possible relation between adverse reproductive outcomes and consumption of contaminated water. To address this concern, the California Department of Health Services conducted two epidemiologic studies: one of these, reported here, is a county-wide study of cardiac anomalies. This study, which looked at major cardiac anomalies among births throughout Santa Clara County in 1981-1983, found an increased prevalence in the service area of the water company which operated the contaminated well. During the potentially exposed time period (January 1981 through August 1982), 12 babies with major cardiac anomalies were born to residents of this area. This represents an excess of six cases over the number expected based on the prevalence in the remainder of the county (relative risk = 2.2, 95 per cent confidence interval 1.2-4.0). No excess was observed in the unexposed time period (September 1982 through December 1983). However, the temporal distribution of major cardiac cases born during the exposed time period suggests that the solvent leak is an unlikely explanation for this excess.

  15. [Mosaic trisomy of chromosome 20 in a patient with congenital anomalies--10-years observation].

    PubMed

    Barg, Ewa; Gil, Justyna; Wikiera, Beata; Smigiel, Robert

    2009-01-01

    Trisomy 20 is one of the most often identified disorders in amniocytes, but in a postnatal analysis is detected rather rarely. We present a girl with dysmorphic features, congenital defects, tumor of a suprarenal gland, hypothyroidism and abnormal intelligence. The recognition of mosaic trisomy 20 was confirmed after cytogenetic examination of the skin fibroblast. The karyotype is described as mos 47,XX,+20/46,XX. The karyotype from peripheral blood lymphocytes, which was examined in the 1st year of life, was normal female (46,XX) and the Turner syndrome was excluded. During 10 years we observed that the dysmorphic features were increased and suggested genetic reasons of these features. In children with dysmorphic features and normal karyotype of blood lymphocytes a wide-ranged genetic counseling is necessary.

  16. Risk of congenital anomalies associated with antithyroid treatment during pregnancy: a meta-analysis

    PubMed Central

    Li, Xiang; Liu, Gui-Yang; Ma, Jian-Li; Zhou, Liang

    2015-01-01

    To evaluate the association of either propylthiouracil or methimazole treatment for hyperthyroidism during pregnancy with congenital malformations, relevant studies were identified by searching Medline, PubMed, the Cochrane Library and EMBASE. We intended to include randomized controlled trials, but no such trials were identified. Thus, we included cohort studies and case-control studies in this meta-analysis. A total of 7 studies were included in the meta-analyses. The results revealed an increased risk of birth defects among the group of pregnant women with hyperthyroidism treated with methimazole compared with the control group (odds ratio 1.76, 95% confidence interval 1.47–2.10) or the non-exposed group (odds ratio 1.71, 95% confidence interval 1.39–2.10). A maternal shift between methimazole and propylthiouracil was associated with an increased odds ratio of birth defects (odds ratio 1.88, 95% confidence interval 1.27–2.77). An equal risk of birth defects was observed between the group of pregnant women with hyperthyroidism treated with propylthiouracil and the non-exposed group (odds ratio 1.18, 95% confidence interval 0.97–1.42). There was only a slight trend towards an increased risk of congenital malformations in infants whose mothers were treated with propylthiouracil compared with in infants whose mothers were healthy controls (odds ratio 1.29, 95% confidence interval 1.07–1.55). The children of women receiving methimazole treatment showed an increased risk of adverse fetal outcomes relative to those of mothers receiving propylthiouracil treatment. We found that propylthiouracil was a safer choice for treating pregnant women with hyperthyroidism according to the risk of birth defects but that a shift between methimazole and propylthiouracil failed to provide protection against birth defects. PMID:26106966

  17. Review on the Management of Primary Congenital Glaucoma

    PubMed Central

    Yu Chan, Julia Yan; Choy, Bonnie NK; Ng, Alex LK

    2015-01-01

    ABSTRACT Despite being documented in medical history from over 2400 years ago, primary congenital glaucoma (PCG), being a disease with low incidence rate, remains a challenge to ophthalmologists. The article provides a broad overview on the pathophysiology and diagnostic approach to PCG with major emphasis on the treatment options of PCG. While reviewing on the well-established treatment options, namely goniotomy, trabeculo-tomy and combined trabeculotomy-trabeculectomy, emphasis has also been made to recent updates on secondary treatments: trabeculectomy, antimetabolites, glaucoma-drainage devices and cyclodestructive procedures. It is, however, important to note that the rarity of PCG places limitations on study design, most studies are, thus, retrospective, nonrandomized and have different definitions of surgical success. Ophthalmologists need to interpret the results with critical thinking and formulate individual treatment plans for each patient. How to cite this article: Yu Chan JY, Choy BNK, Alex LK Ng, Shum JWH. Review on the Management of Primary Congenital Glaucoma. J Curr Glaucoma Pract 2015;9(3):92-99. PMID:26997844

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

    SciTech Connect

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

    1983-01-01

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

  19. AB024. Chromosome microarray analysis (CMA) for the diagnosis of children with developmental delay and multiple congenital anomalies in Singapore

    PubMed Central

    Law, Hai-Yang; Brett, Maggie; Tan, Ene-Choo; Yong, Min-Hwee; Lai, Angeline

    2015-01-01

    Chromosome microarray analysis (CMA) is a sensitive method to identify submicroscopic changes too small to be detected by conventional karyotyping. Due to its high-sensitivity in identifying regions with structural variation and hence the genes involved, it is recommended to be the first-tier genetic test for children with intellectual disabilities, development delay or multiple congenital anomalies, and is routinely available in USA and many countries in Europe. Our lab has started offering this as a clinical test based on the research experience on screening >400 children with developmental delay and multiple congenital anomalies since February 2014. To date, 271 patients have been screened using the Agilent 4×180K CGH + SNP array. Copy number variants (CNVs) ranging in size from 10 kb to 154 Mb were found in 109 patients (40%). Pathogenic and likely pathogenic CNVs were found in 55 (20%). These included 45 with deletions, 8 with duplications and 2 patients with both deletion and duplication. Recurrent microdeletion and microduplication syndromes including the Angelman/Prader-Willi syndrome [5], 1p36 microdeletion [3], Williams syndrome [2], 22q11.2 distal deletion syndrome [2], 16p13.3 microdeletion syndrome [2], Cat Eye syndrome, Cri du Chat syndrome, Miller Decker syndrome, 3q29 microdeletion, 15q24 microdeletion, and 1q43q44 syndrome were among the variants detected in our patients. CNVs of uncertain clinical significance were detected in 54 (20%) individuals: 32 were duplications, 18 were deletions and one with both deletion and duplication. However, due to the high cost of the test, parental testing was not performed and hence, significance of these variants could not be established conclusively. In conclusion, CMA is a powerful tool in identifying pathogenic chromosomal copy number alternations. However, due to the high cost of the test, parental testing for the cases where variants of uncertain significant are found is often not possible. CMA is useful

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

    PubMed

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

    2012-05-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

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

    PubMed Central

    Cheong, Ryan Chin Taw; Kassam, Karim; Eccles, Simon; Hensher, Robert

    2016-01-01

    Congenital temporomandibular joint (TMJ) ankylosis is an uncommon condition that presents itself at or soon after birth in the absence of acquired factors that could have contributed to the ankylosis such as infection and trauma. The experience of managing one such case is reported in light of a review of the literature on this condition. Key management principles include adequate removal of the ankylotic mass, costochondral grafting, and post-op physiotherapy. Most patients reported in the literature with the condition experienced relapse. This echoes our own experience where there was recurrence of the ankylosis. However, after removal of the ankylotic mass, the patient maintains a satisfactory maximal incisal opening (MIO) till the present day. The additional challenges faced in the congenital form in addition to the already complex management of acquired paediatric temporomandibular joint ankylosis are (1) much earlier insult to the TMJ, (2) reduced opportunity for neuromuscular development of the muscles of mastication, and (3) reduced compliance with postoperative physiotherapy programmes due to the younger age of these patients. PMID:27190665

  2. The Classification of Swanson for Congenital Anomalies of Upper Limb Modified by the Japanese Society for Surgery of the Hand (JSSH).

    PubMed

    Iba, Kousuke; Horii, Emiko; Ogino, Toshihiko; Kazuki, Kenichi; Kashiwa, Katsuhiko

    2015-01-01

    The aim of this study is to introduce the classification of Swanson for congenital anomalies of upper limb modified by the Japanese Society for Surgery of the Hand (the JSSH modification) in English. The Swanson classification has been widely accepted by most hand surgeons. However, several authors have suggested that complex cases, particularly those involving the complex spectrum of cleft hand and symbrachydactyly, are difficult to classify into the classification schemes. In the JSSH modification, brachysyndactyly, so-called atypical cleft hand and transverse deficiency are included under the same concept of transverse deficiency. Cleft hand, central polydactyly, and syndactyly are included in the same category of abnormal induction of digital rays. We believe that the JSSH modification system is effective in providing hand surgeons with the clinical features and conditions for congenital anomalies.

  3. 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

  4. Equine Multiple Congenital Ocular Anomalies and Silver Coat Colour Result from the Pleiotropic Effects of Mutant PMEL

    PubMed Central

    Andersson, Lisa S.; Wilbe, Maria; Viluma, Agnese; Cothran, Gus; Ekesten, Björn; Ewart, Susan; Lindgren, Gabriella

    2013-01-01

    Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic cause of MCOA syndrome we sequenced the entire previously characterized 208 kilobase region on chromosome 6 in ten individuals; five MCOA affected horses from three different breeds, one horse with the intermediate Cyst phenotype and four unaffected controls from two different breeds. This was performed using Illumina TruSeq technology with paired-end reads. Through the systematic exclusion of all polymorphisms barring two SNPs in PMEL, a missense mutation previously reported to be associated with the silver coat colour and a non-conserved intronic SNP, we establish that this gene is responsible for MCOA syndrome. Our finding, together with recent advances that show aberrant protein function due to the coding mutation, suggests that the missense mutation is causative and has pleiotrophic effect, causing both the horse silver coat color and MCOA syndrome. PMID:24086599

  5. Congenital anomalies of coronary arteries: role in the pathogenesis of sudden cardiac death.

    PubMed

    Cheitlin, Melvin D; MacGregor, John

    2009-06-01

    After hypertrophic cardiomyopathy, coronary artery anomalies of origin from the wrong sinus of Valsalva are the second most common cause of sudden death on the athletic field in the USA. Although the right coronary artery arising from the left coronary sinus (ARCA) is four times as common as the left coronary artery arising from the anterior sinus (ALCA), it is the latter that is by far the more common cause of sudden death with or shortly after vigorous physical activity. Of the four types of ALCA, the interarterial type, where the left coronary artery passes anteriorly between the aorta and the right ventricular outflow tract, is the only type that places the patient at risk of sudden death. Another feature of this syndrome is the fact that sudden death occurs associated with or shortly after vigorous exercise and is very unusual after the patient is > 35 years of age. The mechanism by which there is sudden occlusion of the interarterial coronary artery is at present unknown, although there are a number of hypotheses involving the oblique passage of the vessel as it leaves the aorta. Sudden death is probably rare considering the number of people who have these anomalies. Symptoms premonitory to a fatal event such as exertional syncope, chest pain, or palpitations are probably common in patients at risk, and surgical correction is indicated in symptomatic patients at any age. In older asymptomatic patients, surgery is not recommended, since the incidence of sudden death in this age group is extremely small. In asymptomatic young patients, a stress test, preferably with radioisotope myocardial perfusion imaging or stress echocardiogram, should be done and surgical correction performed in those with ischemia provoked in the appropriate myocardial region. Since there is evidence that in patients who have survived a potentially fatal event, it is rare to be able to provoke ischemia with equal or greater exercise than had precipitated the malignant arrhythmia, the

  6. Frequency of the Congenital Transmission of Trypanosoma cruzi: A Systematic Review and Meta-Analysis

    PubMed Central

    Howard, Elizabeth J.; Xiong, Xu; Carlier, Yves; Sosa-Estani, Sergio; Buekens, Pierre

    2014-01-01

    Background Chagas disease is caused by the parasite Trypanosoma cruzi and endemic in much of Latin America. With increased globalization and immigration, it is a risk in any country due in part to congenital transmission. The frequency of congenital transmission is unclear. Objective To assess the frequency of congenital transmission of T. cruzi. Search Strategy PubMed, Journals@Ovid Full Text, EMBASE, CINAHL, Fuente Academica and BIREME databases were searched using seven search terms related to Chagas disease or Trypanosoma cruzi and congenital transmission. Selection Criteria The inclusion criteria were the following: Dutch, English, French, Portuguese or Spanish language; case report, case series or observational study; original data on congenital T. cruzi infection in humans; congenital infection rate reported or it could be derived. This systematic review included 13 case reports/series and 51 observational studies. Data Collection and Analysis Two investigators independently collected data on study characteristics, diagnosis and congenital infection rate. The principal summary measure – the congenital transmission rate – is defined as the number of congenitally infected infants divided by the number of infants born to infected mothers. A random effects model was utilized. Main Results The pooled congenital transmission rate was 4.7% (95% confidence interval: 3.9–5.6%). Endemic countries had a higher rate of congenital transmission compared to non-endemic (5.0% vs. 2.7%). Conclusions Congenital transmission of Chagas disease is a global problem. Overall risk of congenital infection in infants born to infected mothers is about 5%. The congenital mode of transmission requires targeted screening to prevent future cases of Chagas disease. PMID:23924273

  7. Vascular anomalies: A pictorial review of nomenclature, diagnosis and treatment

    PubMed Central

    Nosher, John L; Murillo, Philip G; Liszewski, Mark; Gendel, Vyacheslav; Gribbin, Christopher E

    2014-01-01

    Vascular anomalies, including vascular malformations and tumors, are frequently straightforward to detect; however, accurate diagnosis and appropriate treatment are often challenging. Misdiagnosis of these lesions can lead clinicians in the wrong direction when treating these patients, which can have unfavorable results. This review presents an overview of the classification systems that have been developed for the diagnosis of vascular lesions with a focus on the imaging characteristics. Pictorial examples of each lesion on physical examination, as well as non-invasive and minimally invasive imaging are presented. An overview of the endovascular treatment of these lesions is also given. In some cases, vascular anomalies may be associated with an underlying syndrome and several of the most commonly encountered syndromes are discussed. Understanding of the classification systems, familiarity with the treatment options and knowledge of the associated syndromes are essential for all physicians working with this patient population. The approach to the described entities necessitates an organized multi-disciplinary team effort, with diagnostic imaging playing an increasingly important role in the proper diagnosis and a combined interventional radiologic and surgical treatment method showing promising results. PMID:25276311

  8. 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

  9. Endoscopic management for congenital esophageal stenosis: A systematic review

    PubMed Central

    Terui, Keita; Saito, Takeshi; Mitsunaga, Tetsuya; Nakata, Mitsuyuki; Yoshida, Hideo

    2015-01-01

    Congenital esophageal stenosis (CES) is an extremely rare malformation, and standard treatment have not been completely established. By years of clinical research, evidence has been accumulated. We conducted systematic review to assess outcomes of the treatment for CES, especially the role of endoscopic modalities. A total of 144 literatures were screened and reviewed. CES was categorized in fibromuscular thickening, tracheobronchial remnants (TBR) and membranous web, and the frequency was 54%, 30% and 16%, respectively. Therapeutic option includes surgery and dilatation, and surgery tends to be reserved for ineffective dilatation. An essential point is that dilatation for TBR type of CES has low success rate and high rate of perforation. TBR can be distinguished by using endoscopic ultrasonography (EUS). Overall success rate of dilatation for CES with or without case selection by using EUS was 90% and 29%, respectively. Overall rate of perforation with or without case selection was 7% and 24%, respectively. By case selection using EUS, high success rate with low rate of perforation could be achieved. In conclusion, endoscopic dilatation has been established as a primary therapy for CES except TBR type. Repetitive dilatation with gradual step-up might be one of safe ways to minimize the risk of perforation. PMID:25789088

  10. 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.

  11. 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

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

    PubMed Central

    Berkowska, Magdalena; Dalla Bella, Simone

    2009-01-01

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

  13. 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

  14. Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

    PubMed

    Zhang, D D; Du, J Z; Topolewski, J; Wang, X M

    2016-01-01

    Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment. PMID:27525896

  15. May-Hegglin anomaly and pregnancy: a systematic review.

    PubMed

    Hussein, Brwa A; Gomez, Keith; Kadir, Rezan A

    2013-07-01

    May-Hegglin anomaly (MHA) is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large platelets and inclusion bodies in white blood cells. Bleeding manifestations are generally mild, but severe bleeding episodes have been reported. This is a systematic review of literature for MHA during pregnancy. The review revealed 26 articles (25 case reports and one case series) including 75 pregnancies (five twin pregnancies) in 40 women. In 11 women, first presentation was incidental thrombocytopaenia during routine antenatal blood test. Of these, five women were misdiagnosed as idiopathic thrombocytopenic purpura (ITP), including three who underwent splenectomy for resistant ITP. Postpartum haemorrhage (PPH) and bleeding after miscarriage were presenting symptoms in two women. Antiplatelet antibody was found in three pregnancies. Only one of them required intervention with intravenous immunoglobulin (IVIG) to prevent neonatal alloimmune thrombocytopaenia. PPH was reported in four pregnancies; three were primary PPH, of which one had blood transfusion, one had platelet and cryoprecipitate transfusion and the third was managed conservatively. There was one secondary PPH that was treated conservatively. Neonatal outcome included 78 live neonates and two intrauterine fetal deaths. Thirty-four neonates had thrombocytopaenia and subsequently were diagnosed with MHA, three of them required platelet transfusion prophylactically as they developed very low platelet counts and one neonate with platelet count of 29 × 10 cells/l and received IVIG, as the mother had a positive antiplatelet antibody during pregnancy. No obvious bleeding complications were reported among the neonates. MHA can present challenges during pregnancy and be associated with adverse maternal and neonatal outcome because of bleeding complications. Joint management by obstetrician and haematologists is required to minimize these risks. PMID:23811802

  16. Angiosarcoma in congenital hereditary lymphoedema (Milroy's disease)--diagnostic beacons and a review of the literature.

    PubMed

    Offori, T W; Platt, C C; Stephens, M; Hopkinson, G B

    1993-03-01

    In cases of congenital lymphoedema the finding of ulceration, violaceous nodules or papules, or apparent traumatic ecchymoses should act as a diagnostic beacon warning of dangers. A case is reported of a high-grade angiosarcoma developing in a patient with congenital hereditary lymphoedema (Milroy's disease). This is the second paper to report this complication, the third case report and the first case in which the diagnosis is substantiated by immunohistochemistry and lectin histochemistry. A review of cases of angiosarcoma complicating congenital hereditary and non-hereditary lymphoedema is also presented.

  17. Congenital malaria in the United States: report of a case and review.

    PubMed

    Hulbert, T V

    1992-04-01

    Congenital malaria, an uncommon disease in the United States, may result in serious morbidity when not promptly diagnosed. All cases of congenital malaria known to have been seen in the United States since 1950 are reviewed and the most recent case is presented to illustrate the salient features of this disease. Congenital malaria may remain undiagnosed for a prolonged period unless considered in the differential diagnosis of fever, anemia, and splenomegaly in an infant less than 4 months of age whose mother's travel history is unknown. This circumstance often results in the performance of unnecessary procedures, ineffective treatments, and potentially significant morbidity and expense.

  18. Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.

    PubMed

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

    2015-05-01

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

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

    PubMed Central

    Shaheen, Ranad; Anazi, Shams; Ben-Omran, Tawfeg; Seidahmed, Mohammed Zain; Caddle, L. Brianna; Palmer, Kristina; Ali, Rehab; Alshidi, Tarfa; Hagos, Samya; Goodwin, Leslie; Hashem, Mais; Wakil, Salma M.; Abouelhoda, Mohamed; Colak, Dilek; Murray, Stephen A.; Alkuraya, Fowzan S.

    2016-01-01

    Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of transcripts as well. Despite the critical role of NMD at the cellular level, our knowledge about the consequences of deficiency of its components at the organismal level is largely limited to model organisms. In this study, we report two consanguineous families in which a similar pattern of congenital anomalies was found to be most likely caused by homozygous loss-of-function mutations in SMG9, encoding an essential component of the SURF complex that generates phospho-UPF1, the single most important step in NMD. By knocking out Smg9 in mice via CRISPR/Cas9, we were able to recapitulate the major features of the SMG9-related multiple congenital anomaly syndrome we observed in humans. Surprisingly, human cells devoid of SMG9 do not appear to have reduction of PTC-containing transcripts but do display global transcriptional dysregulation. We conclude that SMG9 is required for normal human and murine development, most likely through a transcriptional regulatory role, the precise nature of which remains to be determined. PMID:27018474

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

    PubMed Central

    Yildiz, Adalet Elcin; Ariyurek, Macit Orhan; Karcaaltincaba, Musturay

    2013-01-01

    Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen are lobulations, notches, and clefts; the fusion and location anomalies of spleen are accessory spleen, splenopancreatic fusion, and wandering spleen; polysplenia can be associated with a syndrome. Splenosis and small spleen are acquired anomalies which are caused by trauma and sickle cell disease, respectively. These anomalies can be detected easily by using different imaging modalities including ultrasonography, computed tomography, magnetic resonance imaging, and also Tc-99m scintigraphy. In this pictorial essay, we review the imaging findings of these anomalies which can cause diagnostic pitfalls and be interpreted as pathologic processes. PMID:23710135

  1. Oral Congenital Melanocytic Nevus: A Rare Case Report and Review of the Literature.

    PubMed

    Marangon Júnior, Helvécio; Souza, Paulo Eduardo Alencar; Soares, Rodrigo Villamarim; de Andrade, Bruno Augusto Benevenuto; de Almeida, Oslei Paes; Horta, Martinho Campolina Rebello

    2015-12-01

    Melanocytic nevi are congenital or acquired benign proliferations of cells of melanocytic origin. Oral congenital melanocytic nevi are rare, and only a few cases have been reported in the literature. The purpose of this study is to present the clinical, histological and immunohistochemical features of an oral congenital melanocytic nevus in a 16-year-old female with an 11-year follow-up and to review the pertinent literature. The reported case is the fifth well-documented case report of oral congenital melanocytic nevus in the English literature and the first with a long period of follow-up, thereby making it an important contribution to the knowledge regarding this uncommon oral mucosa lesion.

  2. [Dentinogenesis imperfecta: a developmental anomaly of the dentin in the primary dentition. A literature review].

    PubMed

    Bercovich, R

    2010-01-01

    This literature review summarizes the current knowledge about Dentinigenesis Imperfecta, a developmental anomaly of thedentin.The phenomenon's classification is presented in details, as well as its etiology, clinical, rentgenological and histological characteristics. In addition, the treatment modes are described.

  3. 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

  4. Congenitally corrected transposition of the great arteries in an 83-year-old asymptomatic patient: description and literature review

    PubMed Central

    Placci, Angelo; Lovato, Luigi; Bonvicini, Marco

    2014-01-01

    We describe the case of an 83-year-old asymptomatic man followed in our centre. Transoesophageal echocardiography disclosed congenitally corrected transposition of great arteries (CCTGA) with no associated anomalies and only mild aortic regurgitation. Cardiac MR confirmed the diagnosis and revealed preserved systemic ventricle systolic function with a normal perfusional pathway. This report is a demonstration that CCTGA without associated anomalies can reach older life in an asymptomatic condition. This is the oldest asymptomatic living patient with CCTGA ever described. PMID:25336547

  5. The global burden of congenital toxoplasmosis: a systematic review

    PubMed Central

    Mastroiacovo, Pierpaolo

    2013-01-01

    Abstract Objective To estimate the global burden of congenital toxoplasmosis (CT), which results from infection of pregnant women with Toxoplasma gondii. Methods The authors systematically searched 9 major databases for published and unpublished sources and established direct contact with the authors of source materials. Searches were country-specific. To be included, studies had to report on the incidence of CT, on positivity to Toxoplasma-specific IgM in infants and pregnant women (including seroconversion results) or on positivity to Toxoplasma-specific IgG in the general population. Various modelling techniques were used, depending on the country-specific data available, to estimate the CT incidence and burden in each country. These data were then synthesized into an estimate of the global incidence of CT and of the global burden of CT in disability-adjusted life years (DALYs). Findings The global annual incidence of congenital toxoplasmosis was estimated to be 190 100 cases (95% credible interval, CI: 179 300–206 300). This was equivalent to a burden of 1.20 million DALYs (95% CI: 0.76–1.90). High burdens were seen in South America and in some Middle Eastern and low-income countries. Conclusion Congenital toxoplasmosis poses a substantial burden of poor health globally. Toxoplasmosis should be included in future updates of the global burden of disease and the corresponding data should be used to support public health interventions to reduce disease burden. PMID:23825877

  6. Strategies to achieve sustainability and quality in birth defects registries: the experience of the National Registry of Congenital Anomalies of Argentina.

    PubMed

    Groisman, Boris; Bidondo, Maria Paz; Gili, Juan Antonio; Barbero, Pablo; Liascovich, Rosa

    2013-01-01

    In many low-and middle-income countries, birth defects are not considered a public health priority and are perceived by the medical community as rare, unpreventable events. In this context, a registry of birth defects should address not only the collection, analysis, and dissemination of information but also contribute to local interventions like prevention, diagnosis, and treatment. We describe the National Registry of Congenital Anomalies of Argentina (RENAC) in terms of case definition, data collection, quality assurance, and data sending, coding, analysis, and information dissemination and we present the strategies used to ensure its sustainability. We emphasize strategies for motivating the people collecting data, such as training activities, participation in research projects, returning the processed data, making useful clinical information available, giving non-monetary rewards, and linking cases to genetic services. PMID:23778694

  7. 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

  8. Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

    PubMed Central

    2014-01-01

    Background Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. Methods Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent’s 180 K microarray platform. Results Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. Conclusion This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries. PMID:25016475

  9. 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

  10. 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

  11. Congenital limb anomalies: frequency and aetiological factors: Data from the Edinburgh Register of the Newborn (1964-68)

    PubMed Central

    Rogala, E. J.; Wynne-Davies, R.; Littlejohn, A.; Gormley, J.

    1974-01-01

    This paper reports a detailed follow up of 156 patients with structural upper and lower limb anomalies, obtained from the Edinburgh Register of the Newborn (a registration of 52,029 consecutive births between 1964 and 1968). At the time of this survey the patients were between 4 and 9 years of age. The Register had noted probably 96% of all children born with limb defects in Edinburgh between 1964 and 1968. It was found that the diagnosis was completely accurate in only 26% of cases, and partially so in a further 42%. The frequency of each anomaly has been noted, subdivided into isolated anomalies; those that occurred with other limb anomalies, and those that formed part of a syndrome. Syndactyly of toes, post-axial polydactyly of the fingers, polysyndactyly, and brachydactyly were found to have a genetic basis. All `absence' defects, pre-axial polydactyly, and multiple limb deformities appeared to be sporadic. Amongst the sporadic group, the main aetiological factors noted were an excess of maternal toxaemia of pregnancy and of illegitimate children, when compared with the Register Control Data. PMID:4372353

  12. Does maternal exposure to benzene and PM10 during pregnancy increase the risk of congenital anomalies? A population-based case-control study.

    PubMed

    Vinceti, Marco; Malagoli, Carlotta; Malavolti, Marcella; Cherubini, Andrea; Maffeis, Giuseppe; Rodolfi, Rossella; Heck, Julia E; Astolfi, Gianni; Calzolari, Elisa; Nicolini, Fausto

    2016-01-15

    A few studies have suggested an association between maternal exposure to ambient air pollution from vehicular traffic and risk of congenital anomalies in the offspring, but epidemiologic evidence is neither strong nor entirely consistent. In a population-based case-control study in a Northern Italy community encompassing 228 cases of birth defects and 228 referent newborns, we investigated if maternal exposure to PM10 and benzene from vehicular traffic during early pregnancy, as estimated through a dispersion model, was associated with excess teratogenic risk. In conditional logistic regression analysis, and with adjustment for the other pollutant, we found that higher exposure to PM10 but not benzene was associated with increased risk of birth defects overall. Anomaly categories showing the strongest dose-response relation with PM10 exposure were musculoskeletal and chromosomal abnormalities but not cardiovascular defects, with Down syndrome being among the specific abnormalities showing the strongest association, though risk estimates particularly for the less frequent defects were statistically very unstable. Further adjustment in the regression model for potential confounders did not considerably alter the results. All the associations were stronger for average levels of PM10 than for their maximal level. Findings of this study give some support for an excess teratogenic risk following maternal exposure during pregnancy to PM10, but not benzene. Such association appears to be limited to some birth defect categories.

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2012-01-01

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

  15. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    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.

  16. 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

  17. The congenital anomalies registry in Belarus: a tool for assessing the public health impact of the Chernobyl accident.

    PubMed

    Lazjuk, G; Verger, P; Gagnière, B; Kravchuk, Zh; Zatsepin, I; Robert-Gnansia, E

    2003-01-01

    A national population-based malformation registry (BNR) has been in operation since 1979 in Belarus, one of the countries most heavily exposed to the contamination from the Chernobyl accident of 26 April 1986. We describe its methodology and its compliance with established criteria, evaluate the completeness of its reporting, and analyze the data collected in four administrative regions with contrasting contamination levels from 1983 through 1999. Nine easily diagnosed malformations have been monitored since 1983. Reporting completeness exceeds 85% for all periods and all regions. In all periods, the prevalence at birth of these malformations was lower in the most contaminated regions and showed a similar positive time trend in areas of low and high contamination. We conclude that the BNR is a reliable tool for studying the possible effects on congenital malformations caused by the Chernobyl accident. Although the trend we observed may be explained by better ascertainment and prenatal diagnosis, a real increase cannot be ruled out.

  18. [Congenital ectropion of the upper eyelids due to an anomaly of the eyelids in down's syndrome (author's transl)].

    PubMed

    Hennighausen, U; Schmidt-Martens, F W; Reim, M

    1978-05-01

    A 5-months-old female baby with Down's Syndrome developed an intermittent spastic ectropion of the upper eyelids. The reasons for this are thought to be the flaccidity of the connective tissue, which is typical in Down's Syndrome, and a little anomaly of the eyelids, the tarsus was too short horizontally and very weak and the upper eyelids were somewhat larger than normal and elongated. Suturing Bangerter's lid-sheets on the upper eyelids for 15 days resulted in a scarring of the tarsus with the lax connective tissue of the upper eyelids. The ectropion disappeared and did not recur.

  19. 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

  20. Major lower limb congenital shortening: a mini review.

    PubMed

    Fixsen, John A

    2003-01-01

    Major congenital limb deficiencies are rare and the experience of most orthopaedic surgeons of their management will be small. The suggestion of the establishment of special limb deficiency clinics seems a sensible way of collecting the necessary expertise together in one place in order to advise patient and parents on the long-term management, throughout life, of their problems. Advances in imaging have led to prenatal diagnosis, which produces very significant problems in counselling parents before their child is born. More sophisticated methods of imaging after birth such as magnetic resonance imaging allow more accurate assessment of the deficiency. Early classifications based on plain radiology in the first year of life are being superseded by classifications relevant to the modern methods of reconstruction particularly the circular (Ilizarov) fixator. Similarly the remarkable advances in molecular biology are increasing our understanding of the fundamental causes of these deficiencies and the ultimate aim of their prevention. The rapid advances in reconstruction particularly using circular fixators has made reconstruction rather than amputation and a prosthesis possible, particularly in the milder forms of deficiency. However, the surgeon must remember that these conditions represent a field defect so that reconstruction cannot produce a normal limb. One of the hardest things to explain to patients and parents is that however well reconstruction is performed the result is not a normal limb. In the more severe forms of deficiency frequently the best advice is still amputation and a modern prosthesis. For some patients and parents this is very difficult if not impossible to accept. However, life with a good amputation and modern prosthesis may be better than attempting a long and arduous reconstruction, which still results in an abnormal and imperfect limb. PMID:12488764

  1. Eponymous cardiovascular surgeries for congenital heart diseases--imaging review and historical perspectives.

    PubMed

    Buethe, Ji; Ashwath, Ravi C; Rajiah, Prabhakar

    2015-01-01

    Advances in pediatric cardiology and cardiac surgical techniques over the past few decades have revolutionized the management of the patients with congenital heart disease, and many now survive into adulthood. Several eponymous surgical procedures performed for congenital heart disease have been named after eminent surgeons. In this article, we provide a short biography of the surgeons associated with these eponymous surgical procedures along with their other important scientific contributions. This is followed by a review of these surgical procedures and their most common complications. Imaging appearances of these surgical procedures along with common complications are described and illustrated, with particular emphasis on magnetic resonance imaging. The surgical procedures described in this review include Blalock-Taussig, Potts, Waterston, Glenn, Fontan, Kawashima, Norwood, Sano, Damus-Kaye-Stansel, Mustard, Senning, Jatene, LeCompte, Rastelli, Rashkind, Ross, and Waldenhausen.

  2. Congenital factor XIII deficiency in women: a systematic review of literature.

    PubMed

    Sharief, L A T; Kadir, R A

    2013-11-01

    Factor XIII (FXIII) deficiency is a rare congenital bleeding disorder. There is a paucity of data in the literature about obstetrics and gynaecological problems in women affected by FXIII deficiency. The aim of this study was to examine gynaecological problems and obstetric complications and outcome in women with congenital FXIII deficiency. An electronic search was performed to identify the published literature on PUBMED, MEDLINE, EMBASE, Journals @OVID and CINAHL Plus databases using the following keywords: 'congenital factor XIII deficiency' AND 'women OR Pregnancy'. A total of 39 relevant articles were found and included in this systematic review; 27 case reports and 12 case series dating from 1964 to 2012. A total of 121 women were identified. Menorrhagia (26%) was the second most common bleeding reported after umbilical bleeding. Ovulation bleeding reported in 8% of women. Among 63 women, 192 pregnancies were reported; of these, 127 (66%) resulted in a miscarriage and 65 (34%) reached viability stage. In 136 pregnancies without prophylactic therapy, 124 (91%) resulted in a miscarriage and 12(9%) progressed to viability stage. Antepartum haemorrhage occurred in 5/65 (8%) pregnancies reaching viability stage while postpartum haemorrhage (PPH) seen in 16 (25%) cases. Women with congenital FXIII deficiency suffer significant bleeding complications. Menorrhagia and ovulation bleeding are common gynaecological problems and more prevalent than reported. Pregnancies in women with FXIII deficiency have a significant risk of miscarriage, placental abruption and PPH if not on prophylaxis treatment. PMID:23992439

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

    PubMed

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

    2014-02-01

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

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

    PubMed

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

    2015-05-01

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

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

    PubMed

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

    2015-05-01

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

  6. Congenital coronary anomalies in adults: comparison of anatomic course visualization by catheter angiography and electron beam CT.

    PubMed

    Memisoglu, Esat; Hobikoglu, Gultekin; Tepe, M Savas; Norgaz, Tugrul; Bilsel, Tuba

    2005-09-01

    The objective of this study was to compare the anatomic course of anomalous coronary arteries by axial and three-dimensional volume-rendered electron beam computed tomography (EBCT) angiography and X-ray catheter angiography (CAG). We performed a blinded study where patients who previously underwent CAG with (n = 14) and without (n = 14; age- and gender-matched controls) anomalous coronary anatomy were studied with EBCT coronary angiography. Forty to 50 EKG-triggered 3 mm overlapping axial slices were acquired with 2 mm table movement within one breath hold during the i.v. injection of 140 cc of nonionic iodinated contrast (4 ml/sec). The axial source images and volume-rendered three-dimensional reconstructions were evaluated for the presence, type, and course of coronary anomalies and the results were compared to those of CAG. All normal and anomalous coronary arteries were identified by both modalities in all subjects. Identified anomalies include single coronary artery (n = 3), left-sided right coronary artery (n = 3), right-sided left main coronary artery (n = 3), anterior descending coronary artery (n = 2), circumflex coronary artery (n = 2), and separate left-sided ostia for left anterior descending and circumflex coronary arteries (n = 1). In five cases, there was discrepancy in the course of the anomalous vessels between the two modalities. Consensus reading among cardiologist and radiologists favored the interpretation of EBCT over catheter angiography. Noninvasive EBCT coronary angiography compares well with CAG in identifying anomalous coronary arteries and may provide confirmatory evaluation of their precise anatomic relationships to the heart and great vessels. PMID:16097013

  7. 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

  8. 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.

  9. Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).

    PubMed

    Yoshimura-Furuhata, Megumi; Nishimura-Tadaki, Akira; Amano, Yoshiro; Ehara, Takashi; Hamasaki, Yuko; Muramatsu, Masaki; Shishido, Seiichiro; Aikawa, Atsushi; Hamada, Riku; Ishikura, Kenji; Hataya, Hiroshi; Hidaka, Yoshihiko; Noda, Shunsuke; Koike, Kenichi; Wakui, Keiko; Fukushima, Yoshimitsu; Matsumoto, Naomichi; Awazu, Midori; Miyake, Noriko; Kosho, Tomoki

    2015-03-01

    6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end-stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4-Mb duplication at 6p25.3-p25.1 with 32 protein-coding genes and a 220-Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non-coincidental complication. FOXC1, located within the 6.4-Mb duplicated region at 6p25.3-p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT.

  10. 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.

  11. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 Confer Risk for Congenital Anomalies of the Kidney and Urinary Tract

    PubMed Central

    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

    2015-01-01

    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

  12. Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

    PubMed

    Willemsen, Marjolein H; de Leeuw, Nicole; de Brouwer, Arjan P M; Pfundt, Rolph; Hehir-Kwa, Jayne Y; Yntema, Helger G; Nillesen, Willy M; de Vries, Bert B A; van Bokhoven, Hans; Kleefstra, Tjitske

    2012-11-01

    Genome-wide array studies are now routinely being used in the evaluation of patients with cognitive disorders (CD) and/or congenital anomalies (CA). Therefore, inevitably each clinician is confronted with the challenging task of the interpretation of copy number variations detected by genome-wide array platforms in a diagnostic setting. Clinical interpretation of autosomal copy number variations is already challenging, but assessment of the clinical relevance of copy number variations of the X-chromosome is even more complex. This study provides an overview of the X-Chromosome copy number variations that we have identified by genome-wide array analysis in a large cohort of 4407 male and female patients. We have made an interpretation of the clinical relevance of each of these copy number variations based on well-defined criteria and previous reports in literature and databases. The prevalence of X-chromosome copy number variations in this cohort was 57/4407 (∼1.3%), of which 15 (0.3%) were interpreted as (likely) pathogenic.

  13. 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.

  14. Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

    PubMed

    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

  15. 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.

  16. 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

  17. 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

  18. Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

    PubMed

    Kehrer, Martin; Schäferhoff, Karin; Bonin, Michael; Jauch, Anna; Bevot, Andrea; Tzschach, Andreas

    2015-10-01

    Interstitial deletions encompassing chromosome bands 1p32.1p32.3 are rare. Only nine unrelated patients with partially overlapping 1p32.1p32.3 deletions of variable size and position have been reported to date. We report on a 17-month-old boy with choanal atresia, hearing loss, urogenital anomalies, and microcephaly in whom an interstitial de novo deletion of 6.4 Mb was detected in 1p32.1p32.3 (genomic position chr1:54,668,618-61,113,264 according to GRCh37/hg19). The deleted region harbors 31 RefSeq genes. Notable genes in the region are PCSK9, haploinsufficiency of which caused low LDL cholesterol plasma levels in the patient, and DAB1, which is a candidate gene for cognitive deficits, microcephaly, and cerebral abnormalities such as ventriculomegaly and agenesis of the corpus callosum. Choanal atresia, microcephaly, and severe hearing loss were previously not known to be associated with 1p32 deletions. Our reported patient thus broadens the spectrum of clinical findings in this chromosome region and further facilitates genotype-phenotype correlations. Additional patients with overlapping deletions and/or point mutations in genes of this region need to be identified to elucidate the role of individual genes for the complex clinical manifestations.

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

    PubMed

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

    2014-10-01

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

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

    PubMed

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

    2015-04-01

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

  1. Congenital discrete subaortic stenosis in pregnancy: case report and literature review.

    PubMed

    Guglin, Maya; Kristof-Kuteyeva, Olga

    2013-05-01

    Today's growing numbers of pregnant patients with congenital heart defects presents challenges for cardiologists treating adult patients. The case is presented of a 19-year-old woman who was admitted with a threatened miscarriage in the third trimester and was diagnosed with an incomplete atrioventricular canal, cleft mitral valve with severe regurgitation, and severe congenital subaortic stenosis caused by a subaortic membrane. She was managed conservatively, delivered via cesarean section, and then underwent surgical repair of all defects with good outcome. Here, a review is provided of the literature on the natural course, complications, and treatment strategies of subaortic stenosis, together with a summary of recommendations for the management of the condition. PMID:24151775

  2. Prevention of congenital cytomegalovirus complications by maternal and neonatal treatments: a systematic review.

    PubMed

    Hamilton, Stuart T; van Zuylen, Wendy; Shand, Antonia; Scott, Gillian M; Naing, Zin; Hall, Beverley; Craig, Maria E; Rawlinson, William D

    2014-11-01

    Human cytomegalovirus is the leading non-genetic cause of congenital malformation in developed countries. Congenital CMV may result in fetal and neonatal death or development of serious clinical sequelae. In this review, we identified evidence-based interventions for prevention of congenital CMV at the primary level (prevention of maternal infection), secondary level (risk reduction of fetal infection and disease) and tertiary level (risk reduction of infected neonates being affected by CMV). A systematic review of existing literature revealed 24 eligible studies that met the inclusion criteria. Prevention of maternal infection using hygiene and behavioural interventions reduced maternal seroconversion rates during pregnancy. However, evidence suggested maternal adherence to education on preventative behaviours was a limiting factor. Treatment of maternal CMV infection with hyperimmune globulin (HIG) showed some evidence for efficacy in prevention of fetal infection and fetal/neonatal morbidity with a reasonable safety profile. However, more robust clinical evidence is required before HIG therapy can be routinely recommended. Limited evidence also existed for the safety and efficacy of established CMV antivirals (valaciclovir, ganciclovir and valganciclovir) to treat neonatal consequences of CMV infection, but toxicity and lack of randomised clinical trial data remain major issues. In the absence of a licensed CMV vaccine or robust clinical evidence for anti-CMV therapeutics, patient education and behavioural interventions that emphasise adherence remain the best preventative strategies for congenital CMV. There is a strong need for further data on the use of HIG and other antivirals in pregnancy, as well as the development of less toxic, novel, antiviral agents.

  3. Congenital Giant Keratinous Cyst Mimicking Lipoma: Case Report and Review

    PubMed Central

    Sabhlok, Samrat; Kalele, Ketki; Phirange, Asmita; Kheur, Supriya

    2015-01-01

    Epidermal cysts represent the most common cutaneous cysts. They arise following a localized inflammation of the hair follicle and occasionally after the implantation of the epithelium, following a trauma or surgery. Conventional epidermal cysts are about 5 cm in diameter; however, rare reports of cysts more than 5 cm are reported in the literature and are referred as “Giant epidermal cysts.” Epidermal cysts although common, can mimic other common benign lesions in the head and neck area. A thorough clinico-pathologic investigation is needed to diagnose these cutaneous lesions as they differ in their biologic behavior, treatment, and prognosis. We report a case of a giant epidermoid cyst in the scalp area of a young female patient which mimicked lipoma on clinical, as well as cyotological examination. We also present a brief review of epidermal cysts, their histopathological differential diagnosis, and their malignant transformation. PMID:26677303

  4. Congenital Tongue Mass With Concomitant Cleft Palate and Bifid Tongue: A Case Report and Review of the Literature.

    PubMed

    Hiebert, Jared C; Johnson, Adam B; Tran, H Henry; Yu, Zhongxin; Glade, Robert S

    2016-03-01

    A case report of a congenital, lingual, salivary gland choristoma with bifid tongue and cleft palate is presented. The patient was born with airway obstruction in supine positioning. Laryngoscopy revealed a midline tongue mass that extended into the hypopharyx and pathological examination showed a congenital ectopic salivary gland. The bifid tongue was repaired at the time of surgical excision. Literature review revealed nine additional cases of congenital lingual mass, bifid tongue, and cleft palate. The most common tongue mass reported was hamartoma (40%), but the differential diagnoses include hamartoma, teratoma, and salivary choristoma.

  5. 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

  6. 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

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

    PubMed

    Ennis, Zandra Nymand; Damkier, Per

    2015-04-01

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

  8. Host genetics and susceptibility to congenital and childhood cytomegalovirus infection: a systematic review

    PubMed Central

    Gelemanović, Andrea; Dobberpuhl, Katie; Krakar, Goran; Patarčić, Inga; Kolčić, Ivana; Polašek, Ozren

    2016-01-01

    Aim To summarize available evidence on the role of host genetics in the susceptibility to congenital and childhood cytomegalovirus (CMV) infections by conducting a systematic review of published studies. Methods We searched online databases (PubMed, Web of Science, Scopus and HuGe Navigator) for relevant studies with well-defined inclusion and exclusion criteria and assessed the risk of bias using novel Confounding-Selection-Information bias score (CSI). Results 5105 studies were initially identified, but only 5 met all the inclusion criteria and were analyzed in detail. Polymorphisms of the toll-like receptors (TLRs) and mannose-binding lectin (MBL) genes were shown to have an impact on the CMV infection in infants. Polymorphisms of the TLR2 (rs3804100, rs1898830), TLR4 (rs4986791), and TLR9 (rs352140) were shown to have a role in congenital CMV infection. Low MBL levels were associated with CMV infection in Chinese individuals, a finding that was not replicated in Caucasians. The overall credibility of evidence was weak. Conclusions Based on currently available very limited amount of evidence, it is uncertain whether congenital and childhood CMV infections are under host genetic control. Additional primary studies are needed with more specific research hypotheses that will enable gradual understanding of specific mechanisms of the CMV pathogenesis. More genetic studies in the future will facilitate better understanding of host susceptibility and likely enable novel preventative and curative measures. PMID:27586547

  9. Management of congenital muscular torticollis in a child: a case report and review.

    PubMed

    Ta, Jennifer H; Krishnan, Miguel

    2012-11-01

    Congenital muscular torticollis is a condition in which the sternocleidomastoid muscle is shortened on the involved side, leading to an ipsilateral tilt of the head and a contralateral rotation of the face and chin. Most of these patients present in infancy and are successfully treated with physical therapy. Occasionally, patients present in childhood at which time conservative management is rarely successful. Here we present a child with torticollis who was successfully managed with a unipolar release of the sternocleidomastoid. We then review the epidemiology, proposed etiologies, and various treatment options for torticollis and their rates of success.

  10. 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

  11. 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

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

    2015-06-01

    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.

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

    PubMed

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

    2015-06-01

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

  13. 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

  14. Congenital Absence of Inferior Vena Cava in a Young Patient with Iliofemoral Deep Venous Thrombosis Treated with Ultrasound-accelerated Catheter-directed Thrombolysis: Case Report and Review of the Literature.

    PubMed

    Reslan, Ossama M; Raffetto, Joseph D; Addis, Michael; Sundick, Scott

    2015-11-01

    Absence of the inferior vena cava (AIVC) is a rare congenital anomaly and result from aberrant development during embryogenesis. Deep vein thrombosis (DVT) is a frequent finding in healthy young adults who are diagnosed with congenital AIVC. This condition is best diagnosed with color venous Doppler ultrasound and computed tomography angiography or magnetic resonance imaging, and managed using anticoagulation, mechanical catheter-directed thrombectomy, and thrombolysis. Catheter-directed thrombolysis (CDT) followed by systemic anticoagulation and use of compression stockings appears safe and effective in the treatment of patients who present with acute DVT and AIVC. We present a case report of DVT with underlying AIVC treated successfully with CDT and will review the relevant English literature.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-02-28

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

  17. 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

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

    PubMed

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

    2016-06-15

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

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

    PubMed

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

    2016-06-15

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

  20. Pre-conception Folic Acid and Multivitamin Supplementation for the Primary and Secondary Prevention of Neural Tube Defects and Other Folic Acid-Sensitive Congenital Anomalies.

    PubMed

    Wilson, R Douglas; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Carroll, June; Cartier, Lola; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Deb-Rinker, Paromita; Dodds, Linda; Leon, Juan Andres; Lowel, Hélène L; Luo, Wei; MacFarlane, Amanda; McMillan, Rachel; Moore, Aideen; Mundle, William; O'Connor, Deborah; Ray, Joel; Van den Hof, Michiel

    2015-06-01

    Objectif : Offrir des renseignements à jour sur l’utilisation pré et postconceptionnelle d’acide folique par voie orale, avec ou sans supplément de multivitamines / micronutriments, aux fins de la prévention des anomalies du tube neural et d’autres anomalies congénitales. Ces renseignements aideront les médecins, les sages-femmes, les infirmières et les autres professionnels de la santé à contribuer aux efforts de sensibilisation des femmes quant à l’utilisation et aux posologies adéquates de la supplémentation en acide folique / multivitamines, avant et pendant la grossesse. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed, Medline, CINAHL et la Cochrane Library en janvier 2011 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « folic acid », « prenatal multivitamins », « folate sensitive birth defects », « congenital anomaly risk reduction », « pre-conception counselling »). Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en juin 2014. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques, et auprès de sociétés de spécialité médicale nationales et internationales. Coûts, risques et avantages : Les coûts financiers sont ceux de la supplémentation quotidienne en vitamines et de la consommation d’un régime alimentaire santé enrichi en folate. Les risques sont ceux qui sont li

  1. Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.

    PubMed

    Nemani, Lalita; Barik, Ramachandra; Patnaik, Amar Narayana; Mishra, Ramesh C; Rao, Amaresh M; Kapur, Pragati

    2014-09-01

    We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

  2. NESC Independent Review of the Mars Reconnaissance Orbiter (MRO) Contamination Thermal/Vacuum (T/V) Anomaly Technical Consultation Report

    NASA Technical Reports Server (NTRS)

    Sutter, James K.; Leidecker, Henning W.; Panda, Binayak; Piascik, Robert S.; Muirhead, Brian K.; Peeler, Debra

    2009-01-01

    The NESC eras requested by the NASA Jet Propulsion Laboratory (JPL) to conduct an independent review of the Mars Reconnaissance Orbiter (MRO) Thermal/Vacuum (T/V) Anomaly Assessment. Because the anomaly resulted in the surface contamination of the MRO, selected members of the Materials Super Problem Resolution Team (SPRT) and the NASA technical community having technical expertise relative to contamination issues were chosen for the independent review. The consultation consisted of a review of the MRO Project's reported response to the assessment findings, a detailed review of JPL technical assessment final report, and detailed discussions with the JPL assessment team relative to their findings.

  3. 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.

  4. Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature.

    PubMed

    Sartori, M T; Teresa, S M; Milan, M; Marta, M; de Bon, E; Emiliano, D B; Fadin, M; Mariangela, F; Pesavento, R; Raffaele, P; Zanon, E; Ezio, Z

    2015-01-01

    Thrombotic events in congenital hypo-afibrinogenemia have been rarely reported, either in association or not with replacement therapy or thrombotic risk factors. We describe clinical findings and management of thrombosis of abdominal aorta with peripheral embolism in a patient with congenital afibrinogenemia. A review of arterial thrombosis in inherited hypo-afibrinogenemia was also performed. The patient with a severe bleeding history requiring prophylaxis with fibrinogen concentrates (FC) was admitted for ischaemia of the 4th right toe. An angio-CT of abdominal aorta showed a thrombosis from the origin of renal arteries to the carrefour with a distal floating part. No thrombotic risk factors were found; a previous traumatic lesion of aortic wall might have triggered the thrombus formation, whereas the role of FC prophylaxis remains uncertain. The patient was successfully treated with FC, enoxaparin followed by fondaparinux, and low-dose aspirin without bleeding or thrombosis recurrence. After 2 years, aortic thrombus was almost completely recovered. Sixteen hypo/afibrinogenemia patients with arterial thrombosis were found in Literature, showing that thrombosis often occurs at a young age, involves large vessels, its recurrence is not unusual, and therapeutic strategy is not defined yet. Our therapeutic approach was effective and also safe, but further studies are needed to improve the knowledge of pathogenesis and the anti-thrombotic management in this peculiar setting.

  5. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

    PubMed

    Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K

    2015-12-01

    The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls.

  6. Nutrition Support for Children Undergoing Congenital Heart Surgeries: A Narrative Review.

    PubMed

    Wong, Judith J M; Cheifetz, Ira M; Ong, Chengsi; Nakao, Masakazu; Lee, Jan Hau

    2015-07-01

    Energy imbalance in infants and children with congenital heart disease (CHD) is common and influenced by age, underlying cardiac diagnoses, and presence or absence of congestive heart failure. During the surgical hospitalization period, these children are prone to nutritional deterioration due to stress of surgery, anesthetic/perfusion techniques, and postoperative care. Poor nutrition is associated with increased perioperative morbidity and mortality. This review aims to examine various aspects of nutrition in critically ill children with CHD, including (1) energy expenditure, (2) perioperative factors that contribute to energy metabolism, (3) bedside practices that are potentially able to optimize nutrient delivery, and (4) medium- to long-term impact of energy balance on clinical outcomes. We propose a nutrition algorithm to optimize nutrition of these children in the perioperative period where improvements in nutrition status will likely impact surgical outcomes.

  7. Molecular insight into heart development and congenital heart disease: An update review from the Arab countries.

    PubMed

    Aburawi, Elhadi H; Aburawi, Hanan E; Bagnall, Keith M; Bhuiyan, Zahurul A

    2015-05-01

    Congenital heart defect (CHD) has a major influence on affected individuals as well as on the supportive and associated environment such as the immediate family. Unfortunately, CHD is common worldwide with an incidence of approximately 1% and consequently is a major health concern. The Arab population has a high rate of consanguinity, fertility, birth, and annual population growth, in addition to a high incidence of diabetes mellitus and obesity. All these factors may lead to a higher incidence and prevalence of CHD within the Arab population than in the rest of the world, making CHD of even greater concern. Sadly, most Arab countries lack appropriate public health measures directed toward the control and prevention of congenital malformations and so the importance of CHD within the population remains unknown but is thought to be high. In approximately 85% of CHD patients, the multifactorial theory is considered as the pathologic basis. The genetic risk factors for CHD can be attributed to large chromosomal aberrations, copy number variations (CNV) of particular regions in the chromosome, and gene mutations in specific nuclear transcription pathways and in the genes that are involved in cardiac structure and development. The application of modern molecular biology techniques such as high-throughput nucleotide sequencing and chromosomal array and methylation array all have the potential to reveal more genetic defects linked to CHD. Exploring the genetic defects in CHD pathology will improve our knowledge and understanding about the diverse pathways involved and also about the progression of this disease. Ultimately, this will link to more efficient genetic diagnosis and development of novel preventive therapeutic strategies, as well as gene-targeted clinical management. This review summarizes our current understanding of the molecular basis of normal heart development and the pathophysiology of a wide range of CHD. The risk factors that might account for the high

  8. Hypoplastic coronary arteries and high takeoff position of the right coronary ostium. A fatal combination of congenital coronary artery anomalies in an amateur athlete.

    PubMed

    Menke, D M; Waller, B F; Pless, J E

    1985-08-01

    This report describes a previously unrecognized combination of congenital coronary artery abnormalities in the heart of a 30-year-old amateur athlete who died suddenly during a basketball game. Both right and left circumflex coronary arteries were half of their normal length (hypoplastic) decreasing posterior ventricular myocardial perfusion. In addition, the right coronary ostium rose 5 mm above the sinotubular junction (high takeoff position), which also contributed to decreased right coronary artery perfusion. This combination of congenital coronary arterial lesions should be added to the list of structural cardiac defects associated with exercise-related sudden death.

  9. Congenital familial subglottic stenosis: a case series and review of literature.

    PubMed

    Manickavasagam, J; Yapa, S; Bateman, N D; Thevasagayam, M S

    2014-02-01

    Subglottic stenosis is a narrowing of the endolarynx and maybe classified as congenital (primary) or acquired (secondary). Congenital stenosis maybe caused by a small cricoid cartilage, thick submucosa or other laryngeal abnormalities and remains a well-known cause of stridor in infancy. It occurs sporadically and familial occurrence is rare. Our case series identifies three children with congenital subglottic stenosis born to consanguineous parents. Congenital subglottic stenosis in siblings of unrelated parents has been previously reported, but not in consanguineous parents indicating a strong genetic link. We recommend further genetic research to assess the mode of possible heritage in this disease.

  10. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

    PubMed Central

    Pérez-López, L. M.; Cabrera-González, M.; Gutiérrez-de la Iglesia, D.; Ricart, S.; Knörr-Giménez, G.

    2015-01-01

    Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF). Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures. PMID:26579324

  11. Uhl's anomaly.

    PubMed Central

    Vecht, R J; Carmichael, D J; Gopal, R; Philip, G

    1979-01-01

    Uhl's anomaly of the heart is a rare condition. Another well-documented case is presented with a review of the published reports outlining the main clinical features and the bad overall prognosis. Right atriotomy should be avoided if closure of the atrial septal defect is attempted. Images PMID:465242

  12. Normalisation of a severely abnormal ductus venosus Doppler flow velocity waveform in a growth-retarded fetus with absent end-diastolic flow in the umbilical artery and congenital anomalies.

    PubMed

    Müller, T; Rehn, M; Girschick, G; Kristen, P; Dietl, J

    2001-01-01

    Doppler recordings of fetal venous blood flow seem to be superior to arterial velocimetry and CTG concerning the prediction of fetal outcome and optimal time of delivery in pregnancies with fetal growth retardation and AREDV. An improvement of arterial Doppler flow velocities has been described. We report the reappearance of a normal end-diastolic flow velocity in a ductus venosus temporarily showing reversed end-diastolic flow in a growth-retarded fetus with congenital anomalies. This normalization was accompanied by an improvement of the CTG, a loss of umbilical vein pulsations, a reappearance of umbilical diastolic flow and a progressive return of cerebral and venous blood flow into the 'normal' range. Improvement of fetal condition may be the explanation for our observation.

  13. Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome: Report of Two Cases and Brief Review of the Literature

    PubMed Central

    Pala, Halil Gursoy; Nese, Nalan; Tarhan, Serdar; Baytur, Yesim

    2013-01-01

    Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options. PMID:24251054

  14. Congenital Adrenal Hyperplasia: Review from a Surgeon’s Perspective in the Beginning of the Twenty-First Century

    PubMed Central

    Piaggio, Lisandro Ariel

    2013-01-01

    Congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency is the most common type of disorder of sex development. This review will focus on CAH addressing historical and current surgical techniques with their anatomical foundations, with special attention to long-term results and outcomes on sexual function, patient satisfaction, patient attitude toward surgery, and ongoing controversies in management of these patients. PMID:24400298

  15. 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

  16. Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?

    PubMed

    Goossens, Linde; Janssens, Sandra; Meersschaut, Valerie; Peeters, Hilde; Devlieger, Hugo; Devriendt, Koen

    2006-04-01

    We present two siblings from unrelated parents presenting with intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation (ectopic neuropituitary gland associated with a hypoplastic adenopituitary in one of them, and a hypoplastic cerebellum and vermis in the other), abnormal hair with temporal balding, a striking facial dysmorphism and, at least in the child who survived, postnatal growth retardation and severe developmental delay. This probably represents a novel syndrome.

  17. Prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis.

    PubMed

    Wu, Xiaohang; Long, Erping; Lin, Haotian; Liu, Yizhi

    2016-01-01

    Congenital cataract (CC) is the primary cause of treatable childhood blindness worldwide. The establishment of reliable, epidemiological estimates is an essential first step towards management strategies. We undertook an initial systematic review and meta-analysis to estimate the prevalence and other epidemiological characteristics of CC. PubMed, Medline, Web of Science, Embase, and Cochrane Library were searched before January 2015. A meta-analysis with random-effects model based on a proportions approach was performed to determine the population-based prevalence of CC and to describe the data regarding the laterality, morphology, associated comorbidities and etiology. Heterogeneity was analyzed using the meta-regression method, and subgroup analyses were performed. 27 studies were selected from 2,610 references. The pooled prevalence estimate was 4.24 per 10,000 people, making it a rare disease based on WHO standards. Subgroup analyses revealed the highest CC prevalence in Asia, and an increasing prevalence trend through 2000. Other epidemiological characteristics showed CC tended to be bilateral, isolated, hereditary and in total/nuclear morphology. Huge heterogeneity was identified across most estimates (I(2) > 75%). Most of the variations could be explained by sample size, research period and age at diagnosis. The findings provide suggestions for etiology of CC, improvements in screening techniques and development of public health strategies. PMID:27334676

  18. Prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis

    PubMed Central

    Wu, Xiaohang; Long, Erping; Lin, Haotian; Liu, Yizhi

    2016-01-01

    Congenital cataract (CC) is the primary cause of treatable childhood blindness worldwide. The establishment of reliable, epidemiological estimates is an essential first step towards management strategies. We undertook an initial systematic review and meta-analysis to estimate the prevalence and other epidemiological characteristics of CC. PubMed, Medline, Web of Science, Embase, and Cochrane Library were searched before January 2015. A meta-analysis with random-effects model based on a proportions approach was performed to determine the population-based prevalence of CC and to describe the data regarding the laterality, morphology, associated comorbidities and etiology. Heterogeneity was analyzed using the meta-regression method, and subgroup analyses were performed. 27 studies were selected from 2,610 references. The pooled prevalence estimate was 4.24 per 10,000 people, making it a rare disease based on WHO standards. Subgroup analyses revealed the highest CC prevalence in Asia, and an increasing prevalence trend through 2000. Other epidemiological characteristics showed CC tended to be bilateral, isolated, hereditary and in total/nuclear morphology. Huge heterogeneity was identified across most estimates (I2 > 75%). Most of the variations could be explained by sample size, research period and age at diagnosis. The findings provide suggestions for etiology of CC, improvements in screening techniques and development of public health strategies. PMID:27334676

  19. Pulse oximetry screening: a review of diagnosing critical congenital heart disease in newborns

    PubMed Central

    Engel, Melissa S; Kochilas, Lazaros K

    2016-01-01

    Congenital heart disease (CHD) is one of the most common birth defects, with an incidence of nine out of every 1,000 live births. The mortality of infants with CHD has decreased over the past 3 decades, but significant morbidity and mortality continue to occur if not diagnosed shortly after birth. Pulse oximetry was recommended as a screening tool to detect critical CHD in 2011 by the American Academy of Pediatrics and the American Heart Association. Pulse oximetry is a tool to measure oxygen saturation, and based on the presence of hypoxemia, many cardiac lesions are detected. Due to its ease of application to the patient, providing results in a timely manner and without the need for calibrating the sensor probe, pulse oximetry offers many advantages as a screening tool. However, pulse oximetry has also important limitations of which physicians should be aware to be able to assess the significance of the pulse oximetry measurement for a given patient. This review aims to highlight the benefits and shortcomings of pulse oximetry within the context of screening for critical CHD and suggests future avenues to cover existing gaps in current practices. PMID:27468253

  20. Review and update on the molecular basis of Leber congenital amaurosis

    PubMed Central

    Chacon-Camacho, Oscar Francisco; Zenteno, Juan Carlos

    2015-01-01

    Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of childhood and adult blindness. Leber congenital amaurosis (LCA) is the most severe kind of these diseases accounting for approximately 5% of the whole retinal dystrophies and 20% of the children that study on blind schools. Clinical ophthalmologic findings including severe vision loss, nystagmus and ERG abnormalities should be suspected through the first year of life in this group of patients. Phenotypic variability is found when LCA patients have a full ophthalmologic examination. However, a correct diagnosis may be carried out; the determination of ophthalmologic clues as light sensibility, night blindness, fundus pigmentation, among other, join with electroretinographics findings, optical coherence tomography, and new technologies as molecular gene testing may help to reach to a precise diagnosis. Several retinal clinical features in LCA may suggest a genetic or gene particular defect; thus genetic-molecular tools could directly corroborate the clinical diagnosis. Currently, approximately 20 genes have been associated to LCA. In this review, historical perspective, clinical ophthalmological findings, new molecular-genetics technologies, possible phenotype-genotypes correlations, and gene therapy for some LCA genes are described. PMID:25685757

  1. Maternal lifestyle factors in pregnancy and congenital heart defects in offspring: review of the current evidence.

    PubMed

    Feng, Yu; Yu, Di; Yang, Lei; Da, Min; Wang, Zhiqi; Lin, Yuan; Ni, Bixian; Wang, Song; Mo, Xuming

    2014-01-01

    The prognosis of children with congenital heart defects(CHDs) continues to improve with advancing surgical techniques; however, lack of information about modifiable risk factors for malformations in cardiovascular development impeded the prevention of CHDs. We investigated an association between maternal lifestyle factors and the risk of CHDs, because epidemiological studies have reported conflicting results regarding maternal lifestyle factors and the risk of CHDs recently. A review published on 2007 provided a summary of maternal exposures associated with an increased risk of CHDs. As part of noninherited risk factors, we conducted a brief overview of studies on the evidence linking common maternal lifestyle factors, specifically smoking, alcohol, illicit drugs, caffeine, body mass index and psychological factors to the development of CHDs in offspring. Women who smoke and have an excessive body mass index(BMI) during pregnancy are suspected to be associated with CHDs in offspring. Our findings could cause public health policy makers to pay more attention to women at risk and could be used in the development of population-based prevention strategies to reduce the incidence and burden of CHDs. However, more prospective studies are needed to investigate the association between maternal lifestyle factors and CHDs. PMID:25385357

  2. Review and update on the molecular basis of Leber congenital amaurosis.

    PubMed

    Chacon-Camacho, Oscar Francisco; Zenteno, Juan Carlos

    2015-02-16

    Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of childhood and adult blindness. Leber congenital amaurosis (LCA) is the most severe kind of these diseases accounting for approximately 5% of the whole retinal dystrophies and 20% of the children that study on blind schools. Clinical ophthalmologic findings including severe vision loss, nystagmus and ERG abnormalities should be suspected through the first year of life in this group of patients. Phenotypic variability is found when LCA patients have a full ophthalmologic examination. However, a correct diagnosis may be carried out; the determination of ophthalmologic clues as light sensibility, night blindness, fundus pigmentation, among other, join with electroretinographics findings, optical coherence tomography, and new technologies as molecular gene testing may help to reach to a precise diagnosis. Several retinal clinical features in LCA may suggest a genetic or gene particular defect; thus genetic-molecular tools could directly corroborate the clinical diagnosis. Currently, approximately 20 genes have been associated to LCA. In this review, historical perspective, clinical ophthalmological findings, new molecular-genetics technologies, possible phenotype-genotypes correlations, and gene therapy for some LCA genes are described. PMID:25685757

  3. 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.

  4. Congenital mucocele of the tongue: a case report and review of the literature.

    PubMed

    Rodríguez, Hugo; De Hoyos Parra, Ricardo; Cuestas, Giselle; Cambi, Jacopo; Passali, Desiderio

    2014-01-01

    Mucoceles are benign lesions of the oral cavity that develop as a result of retention or extravasation of mucous material from minor salivary glands. Congenital mucoceles are very rare. These lesions in newborns may interfere with breastfeeding and may even compromise respiratory function. A patient with a congenital mucocele diagnosed by prenatal ultrasound screening showing a cystic lesion of the tongue is presented herein. The physical examination, lesion evolution and imaging are described, together with the surgical management, histopathology and two-year follow-up. Early clinical assessment, differential diagnosis and magnetic resonance imaging allow clinicians to diagnose and treat this rare congenital condition with surgery in early infancy.

  5. Congenital mucocele of the tongue: a case report and review of the literature.

    PubMed

    Rodríguez, Hugo; De Hoyos Parra, Ricardo; Cuestas, Giselle; Cambi, Jacopo; Passali, Desiderio

    2014-01-01

    Mucoceles are benign lesions of the oral cavity that develop as a result of retention or extravasation of mucous material from minor salivary glands. Congenital mucoceles are very rare. These lesions in newborns may interfere with breastfeeding and may even compromise respiratory function. A patient with a congenital mucocele diagnosed by prenatal ultrasound screening showing a cystic lesion of the tongue is presented herein. The physical examination, lesion evolution and imaging are described, together with the surgical management, histopathology and two-year follow-up. Early clinical assessment, differential diagnosis and magnetic resonance imaging allow clinicians to diagnose and treat this rare congenital condition with surgery in early infancy. PMID:24911859

  6. Female Urethral Duplication: Rare Anomaly with Unusual Presentation.

    PubMed

    Solanki, Shailesh; Babu, M Narendra; Jadhav, Vinay; Gowrishankar; Ramesh, S

    2015-01-01

    Urethral duplication (UD) in females is a rare congenital anomaly and requires a high degree of clinical suspicion for diagnosis. The preoperative evaluation requires thorough investigations to delineate anatomy which is imperative for surgical reconstruction to provide excellent functional and cosmetic outcome. We describe the successful management of a 6-year-old girl with UD (presented as ambiguous genitalia and urinary incontinence) along with a review of pertinent literature. PMID:27512541

  7. Female Urethral Duplication: Rare Anomaly with Unusual Presentation

    PubMed Central

    Solanki, Shailesh; Babu, M. Narendra; Jadhav, Vinay; Gowrishankar; Ramesh, S.

    2015-01-01

    Urethral duplication (UD) in females is a rare congenital anomaly and requires a high degree of clinical suspicion for diagnosis. The preoperative evaluation requires thorough investigations to delineate anatomy which is imperative for surgical reconstruction to provide excellent functional and cosmetic outcome. We describe the successful management of a 6-year-old girl with UD (presented as ambiguous genitalia and urinary incontinence) along with a review of pertinent literature. PMID:27512541

  8. Congenital diaphragmatic hernia: where and what is the evidence?

    PubMed

    Losty, Paul D

    2014-10-01

    Congenital diaphragmatic hernia (CDH) retains high mortality and morbidity due to lung hypoplasia, pulmonary hypertension and severe co-existent anomalies. This article offers a comprehensive state-of-the-art review for the paediatric surgeon whilst also describing key contributions from the basic sciences in the search to uncover the cause of the birth defect together with efforts to develop new and better therapies for CDH. PMID:25459012

  9. Congenital vocal cord paralysis with possible autosomal recessive inheritance: Case report and review of the literature

    SciTech Connect

    Koppel, R.; Friedman, S.; Fallet, S.

    1996-08-23

    We describe an infant with congenital vocal cord paralysis born to consanguineous parents. While autosomal dominant and X-linked inheritance have been previously reported in this condition, we conclude that the degree of parental consanguinity in this case strongly suggests autosomal recessive inheritance. Although we cannot exclude X-linked inheritance, evidence from animal studies demonstrates autosomal recessive inheritance and provides a possible molecular basis for congenital vocal cord paralysis. 14 refs., 1 fig.

  10. 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 ...

  11. Symptomatic Infratentorial Thrombosed Developmental Venous Anomaly: Case Report and Review of the Literature

    PubMed Central

    Amuluru, Krishna; Al-Mufti, Fawaz; Hannaford, Stephen; Singh, Inder Paul; Prestigiacomo, Charles J.; Gandhi, Chirag D.

    2016-01-01

    Background Developmental venous anomalies (DVAs) are variations of normal transmedullary veins draining white and gray matter. In the vast majority of cases, DVAs are diagnosed incidentally and should be considered as benign entities. In extremely rare circumstances, DVAs may become symptomatic due to mechanical or flow-related etiologies. Thrombosis of the collector vein of a DVA is a rare type of a flow-related complication with only 29 cases reported in the literature, the majority of which are supratentorial. Infratentorial thrombosed DVAs are thus extremely rare and the few cases reported have typically caused symptoms due to venous ischemic infarctions. Summary We report a case of an infratentorial DVA with a thrombosed drainage vein in a patient with nonhemorrhagic, noninfarcted venous congestive edema, which was successfully treated with high-dose glucocorticoids and short-term anticoagulation. We review the pertinent venous anatomy of the posterior fossa as well as the literature of symptomatic infratentorial thrombosed DVAs. Key Message The presented case of an infratentorial thrombosed DVA with cerebellar and pontine venous congestive edema is extremely rare. A working knowledge of posterior fossa venous anatomy and possible pathomechanisms responsible for the rarely symptomatic lesion will aid in the timely and efficacious treatment of such lesions. PMID:27051409

  12. [Prenatal ultrasonographic diagnosis of congenital epulis--two case reports and literature review].

    PubMed

    Foryś, Sebastian; Krajewski, Jan; Krasomski, Grzegorz; Makowski, Andrzej; Zieliński, Andrzej; Kulig, Andrzej; Respondek-Liberska, Maria

    2010-06-01

    The following work presents prenatal ultrasonographic examination of two rare fetal cases of epulis, among 13 792 fetuses referred to our unit due to suspected fetal anomalies by obstetricians (estimated prevalence 1/7000 among fetuses with different anomalies). Sonographic differential diagnosis, value of fetal nasal amniotic fluid flow assessment by color Doppler and the probability of EXIT procedure have been described. PMID:20695198

  13. 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

  14. Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature.

    PubMed

    Pandya, A; Braverman, N; Pyeritz, R E; Ying, K L; Kline, A D; Falk, R E

    1995-10-23

    We report on unusual manifestations in 2 unrelated children with interstitial deletion of 6q, with nearly identical breakpoints of 6q16.2q23.1 and 6q16.3q22.3. Major findings include growth retardation, profound developmental delay, microcephaly, facial anomalies, sparse hair, congenital heart defects, and striking hand malformations. Discordant anomalies were duodenal atresia and hypoplastic genitalia in 1 child. Split-hand defect, polydactyly, gastrointestinal anomalies, and ectodermal dysplasia have not been described previously in children with 6q deletion. The presence of hand malformations in 2 children with similar deletion breakpoints strongly suggests that this is a candidate region for one or more genes involved in limb development. Comparison of the clinical findings of other patients with 6q2 deletion suggests a recognizable phenotype.

  15. [Congenital laryngo-tracheo-esophageal cleft].

    PubMed

    Sørensen, J A; Godballe, C; Jørgensen, K; Pedersen, S A

    1989-01-01

    A typical case of congenital laryngo-trachea-esophageal cleft (LTEC) is presented with a Review of the literature. LTEC is a rare congenital anomaly caused by defective fusion of the septum between larynx/trachea and hypopharynx/esophagus. The septum is formed by fusion of two lateral folds growing medially in very early foetal life. Fusion progresses in a cranial direction. Disturbances in septum formation result in LTEC. The disease gives respiratory problems with aspiration and excessive salivary production. The diagnosis is best made by intubating the larynx and examining the postcricoid region and anterior wall of the esophagus endoscopically. Stapling of the stomach, tracheostomy and secondary operative closure of the cleft has proved effective in the treatment of LTEC. PMID:2911891

  16. Congenital ocular and adnexal disorders in reptiles.

    PubMed

    Sabater, Mikel; Pérez, Marisa

    2013-01-01

    Ocular and adnexal congenital disorders are those that manifest at birth and could involve single or multiple tissues. Several abnormalities have been reported in literature affecting reptilian ocular and/or adnexal tissues. The objectives of this review are: (i) review those disorders previously reported in reptile literature; (ii) present new cases; (iii) provide a basic classification of them according to the moment of occurrence and (iv) indirectly, encourage the clinician dealing with these cases to go further in their diagnosis. The authors consider that categorizing ocular and adnexal congenital disorders could help the clinician to deal with them. The categorization of these disorders required an intense review of cases previously reported in literature and allows the authors suspect that some of them could not have been accurately diagnosed according to the definitions of the anomalies and/or not accurately described. The authors consider that ocular and adnexal congenital disorders could have been underestimated in reptiles and further studies could be helpful to promote the description of new disorders and to expand the knowledge about those previously reported. The review will first describe abnormalities reported during organogenesis (describing possible etiopathogenesis, cases reported, an approach to their diagnosis and recommended therapeutic options).Then a mention of the ocular disorders occurring after organogenesis is made. These disorders are divided when possible in those affecting all or most part of the globe and those affecting only specific tissues (surface ectoderm, neurocrest and mesenchyma and neuroectoderm).

  17. Use of Octeriotide in the Management of Neonatal Chylothorax Secondary to Repair of Congenital Diaphragmatic Hernia: A Report of Two Cases and Review of Literature

    PubMed Central

    Jarir, Rawia A.; Rahman, Sajjad ur; Bassiouny, Ibrahim El Sayed

    2012-01-01

    Chylothorax, a known complication of surgery for Congenital Diaphragmatic hernia, can sometimes be resistant to treat. Octeriotide (Somatostatin analogue) can be useful in this situation. However, the dose and schedule of Octeriotide therapy in neonates is not well established. We report two cases of resistant chylothorax following surgery for congenital diaphragmatic hernia which were successfully managed by using an escalating infusion of octeriotide. The literature on the subject is also reviewed. PMID:24027698

  18. Prevalence of inner ear anomalies among cochlear implant candidates

    PubMed Central

    Aldhafeeri, Ahmad M.; Alsanosi, Abdulrahman A.

    2016-01-01

    Objectives: To determine the prevalence of inner ear anomalies and the frequency of different anomaly types among cochlear implant recipients. Methods: This study included a retrospective chart review of all patients who received cochlear implants between January 2009 and January 2013 in King Abdulaziz University Hospital cochlear implant program in Riyadh, Saudi Arabia. All subjects underwent thin-cut CT of the temporal bone and MRI. The collected data included age, gender, and CT and MRI findings regarding temporal bone anomalies. Patients with any identified congenital inner ear anomalies were included in the study. Results: In total, 316 patients’ cases were reviewed. Inner ear malformations were identified in 24 patients, which represented a prevalence of 7.5%. Among these 24 patients, 8 (33.3%) presented with a large vestibular aqueduct (LVA), 8 (33.3%) semicircular canal (SCC) dysplasia, 7 (29.1%) classical Mondini deformity, and one (4.1%) cochlear hypoplasia. Conclusion: The prevalence of inner ear anomalies among cochlear implant recipients was 7.5%. This result is consistent with findings worldwide. The most common anomalies were LVA and SCC hypoplasia; by contrast, in other regions, the most common anomaly is either the Mondini deformity, or LVA. PMID:27652360

  19. Does this baby have a tail?: a case of congenital isolated perineal lipoma presenting as human pseudo-tail.

    PubMed

    Kim, Soo-Hong; Cho, Yong Hoon; Kim, Hae Young

    2016-01-01

    A pseudo-tail is defined as a tail-like lesion in the lumbosacrococcygeal region that is not a true tail but one caused by disease. Perineal lipoma is one of the conditions that may present as a pseudo-tail. Congenital perineal lipoma is a rare disease and in particular, isolated congenital perineal lipoma without other anomalies is extremely rare. Here we report a case of congenital isolated perineal lipoma presenting as a pseudo-tail and also include a literature review of the condition.

  20. Does this baby have a tail?: a case of congenital isolated perineal lipoma presenting as human pseudo-tail

    PubMed Central

    Kim, Soo-Hong; Cho, Yong Hoon

    2016-01-01

    A pseudo-tail is defined as a tail-like lesion in the lumbosacrococcygeal region that is not a true tail but one caused by disease. Perineal lipoma is one of the conditions that may present as a pseudo-tail. Congenital perineal lipoma is a rare disease and in particular, isolated congenital perineal lipoma without other anomalies is extremely rare. Here we report a case of congenital isolated perineal lipoma presenting as a pseudo-tail and also include a literature review of the condition. PMID:26793694

  1. Psychiatric manifestations of congenital rubella syndrome: A case report and review of literature.

    PubMed

    Chauhan, Nidhi; Sen, Mahadev Singh; Jhanda, Soumya; Grover, Sandeep

    2016-01-01

    Neurodevelopmental disorders are known to have varied etiology. Among known etiologic causes, congenital rubella syndrome (CRS) is reported to be one of the infections associated with neurodevelopmental disorders. CRS has been reported to be associated with large number of psychiatric manifestation. However, data from developing countries on psychiatric manifestations of CRS are nonexistent. In this report, we present the case of a 7-year-old boy, who presented with mental retardation, atypical autism, and attention deficit hyperactivity disorder. Since birth, the child was found to have congenital cardiac defects and was found to have bilateral profound sensorineural hearing loss since the age of 6 months. Magnetic resonance imaging showed multifocal symmetrical T2/fluid attenuated inversion recovery hyperintensities in bilateral cerebral hemisphere suggestive of sequelae of congenital rubella infection. PMID:27606025

  2. Psychiatric manifestations of congenital rubella syndrome: A case report and review of literature

    PubMed Central

    Chauhan, Nidhi; Sen, Mahadev Singh; Jhanda, Soumya; Grover, Sandeep

    2016-01-01

    Neurodevelopmental disorders are known to have varied etiology. Among known etiologic causes, congenital rubella syndrome (CRS) is reported to be one of the infections associated with neurodevelopmental disorders. CRS has been reported to be associated with large number of psychiatric manifestation. However, data from developing countries on psychiatric manifestations of CRS are nonexistent. In this report, we present the case of a 7-year-old boy, who presented with mental retardation, atypical autism, and attention deficit hyperactivity disorder. Since birth, the child was found to have congenital cardiac defects and was found to have bilateral profound sensorineural hearing loss since the age of 6 months. Magnetic resonance imaging showed multifocal symmetrical T2/fluid attenuated inversion recovery hyperintensities in bilateral cerebral hemisphere suggestive of sequelae of congenital rubella infection. PMID:27606025

  3. 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

  4. A Review of Aeromagnetic Anomalies in the Sawatch Range, Central Colorado

    USGS Publications Warehouse

    Bankey, Viki

    2010-01-01

    This report contains digital data and image files of aeromagnetic anomalies in the Sawatch Range of central Colorado. The primary product is a data layer of polygons with linked data records that summarize previous interpretations of aeromagnetic anomalies in this region. None of these data files and images are new; rather, they are presented in updated formats that are intended to be used as input to geographic information systems, standard graphics software, or map-plotting packages.

  5. Management of Congenital Midline Nasofrontal Masses: Case Report and Review of Literature

    PubMed Central

    Volck, A. C.; Suárez, G. A.; Tasman, A. J.

    2015-01-01

    Epidermoid cysts, dermoids, gliomas, and meningo-/encephaloceles are the most important differential diagnoses in congenital nasofrontal masses. Since they arise from an abnormal fusion during fetal development, intracranial extension of the lesion has to be ruled out radiologically before therapy. Dermoids are the most common entity. We report about a congenital epidermoid cyst of the glabella and nasion that had been growing over the last two years before presentation in a 24-year-old patient. We discuss radiological imaging and the different surgical approaches described in literature. PMID:25883821

  6. 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

  7. Prophylactic arrhythmia surgery in association with congenital heart disease

    PubMed Central

    Deal, Barbara J.

    2016-01-01

    Certain congenital heart anomalies make patients more susceptible to arrhythmia development throughout their lives. This poses the question whether prophylactic arrhythmia surgery should be incorporated into reparative open heart procedures for congenital heart disease. There is currently no consensus on what constitutes a standard prophylactic procedure, owing to the questions that remain regarding lesions to be performed; energy sources to use; proximity of energy source or incisions to coronary arteries, sinoatrial node, atrioventricular node; circumstances for right atrial, left atrial, or biatrial appendectomy; and whether to perform a right, left, or biatrial maze procedure. These considerations are important because prophylactic arrhythmia procedures are performed without knowing if the patient will actually develop an arrhythmia in his or her lifetime. By reviewing and summarizing the literature, congenital heart disease patients who are at risk for developing atrial arrhythmias can be identified and lesion sets can be suggested in an effort to standardize experimental protocols for prophylactic arrhythmia surgery.

  8. Complex aortic arch anomaly: Right aortic arch with aberrant left subclavian artery, fenestrated proximal right and duplicated proximal left vertebral arteries—CT angiography findings and review of the literature

    PubMed Central

    Tong, Elizabeth; Hagspiel, Klaus D

    2015-01-01

    Congenital aortic arch and vertebral artery anomalies are a relatively rare finding discovered on imaging either incidentally or for evaluation of entities like dysphagia or subclavian steal. Right aortic arch is an uncommon anatomical anomaly that occurs in less than 0.1% of the population, and in half of these cases the left subclavian artery is also aberrant.1 Unilateral vertebral artery (VA) duplication is rare with an observed prevalence of 0.72% in cadavers.2 Fenestration of the VA is more common than duplication, with a prevalence of approximately 0.23%–1.95%.3,4 We describe the case of a 25-year-old female who was found to have a right aortic arch with aberrant left subclavian artery, duplicated left vertebral artery and a fenestrated right vertebral artery on CT angiography performed for evaluation of dysphagia. This combination of findings has not been reported before, to the best of our knowledge. We review the embryologic mechanism for the development of the normal aortic arch, right aortic arch, vertebral artery duplication and vertebral artery fenestration. The incidence of these entities, resultant symptoms and clinical implications are also reviewed. The increased associated incidence of aneurysm formation, dissection, arteriovenous malformations and thromboembolic events with fenestration is also discussed. PMID:26306929

  9. Congenital duplication of the gallbladder.

    PubMed

    Safioleas, Michael C; Papavassiliou, Vassilios G; Moulakakis, Konstantinos G; Angouras, Dimitrios C; Skandalakis, Panagiotis

    2006-03-01

    Duplication of the gallbladder is a rare congenital anomaly of the biliary system. In this article, two cases of gallbladder duplication are presented. The first case is a patient with double gallbladder and concomitant choledocholithiasis. The probable diagnosis of double gallbladder was made preoperatively by computed tomography. The patient underwent a successful open cholecystectomy and common bile duct exploration. In the second case, two cystic formations in the place of gallbladder are demonstrated with ultrasound scan in a woman with acute cholecystitis. At surgery, two gallbladders were found. A brief review of epidemiology and anatomy of double gallbladder is included, along with a discussion of the difficulties in diagnosis and treatment of this condition.

  10. Congenital zygomatico-mandibular fusion (pseudo-syngnathia?) in conjunction with unilateral anophthalmia: review of terminology and classification.

    PubMed

    Tauro, David P; Kallappanavar, N K; Kiran, H Y; Girhe, Vijaykumar J

    2012-09-01

    Syngnathia per se is a rare congenital disorder. A literature survey reveals a total of 26 cases of syngnathia in the English literature since 1936, of which only seven cases involved fusion of the ascending ramus of the mandible to the posterior portion of the maxilla and zygomatic complex. The remaining 19 involved fusion of the alveolar ridges of the maxilla and mandible. This is a unique case of fusion of the mandible to the zygomatic complex presenting with a unilateral anophthalmic orbit in an 18-day-old neonate. The use of the term syngnathia has been reviewed and a modification in classification has been suggested.

  11. 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

  12. Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.

    PubMed

    Jaiswal, Sushil Kumar; Kumar, Ashok; Ali, Akhtar; Rai, Amit Kumar

    2015-03-15

    The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400 kb in size). Moreover, 255 kbp intermittent deletion of chromosome 2q13 involving RGPD5, RGPD6, LIMS3, and LIMS3-LOC440895 was also observed. Correlating microarray data with the mosaic karyotype, the marker chromosome was identified as mosaic isochromosome 18p and was found to be 32,600 kbp in size. Baby resembled clinical characteristics of trisomy chromosome 18p, isochromosome 18p and trisomy chromosome 18. The present study suggested that deletion of evolutionarily conserved developmental genes (RGPD5, RGPD and LIMS3) in the 2q13 region might have contributed to more severity in phenotype as compared to so far such reported cases of 18p trisomy's, as these are involved in nuclear-cytoplasm trafficking, signaling for tissue patterning and differentiation.

  13. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

    PubMed

    Gamba, Bruno Faulin; Richieri-Costa, Antônio; Costa, Silvia; Rosenberg, Carla; Ribeiro-Bicudo, Lucilene Arilho

    2015-12-01

    Terminal deletion in the short arm of chromosome 1 results in a disorder described as 1p36 deletion syndrome. The resulting phenotype varies among patients including mental retardation, developmental delay, sensorineural hearing loss, seizures, heart defects, and distinct facies. In the present case, we performed array-comparative genomic hybridization in a boy with multiple congenital malformations presenting some features overlapping the 1p36 deletion phenotype for whom chromosomal analysis did not reveal a terminal deletion in 1p. Results showed complex chromosome rearrangements involving the 1p36.33-p35.3 region. While the mechanism of origin of these rearrangements is still unclear, chromothripsis-a single catastrophic event leading to shattering chromosomes or chromosome regions and rejoining of the segments-has been described to occur in a fraction of cancers. The presence of at least 12 clustered breaks at 1p and apparent lack of mosaicism in the present case suggests that a single event like chromothripsis occurred. This finding suggests that chromothripsis is responsible for some constitutive complex chromosome rearrangements.

  14. Incidental finding of two rare developmental anomalies: Fusion and dilaceration: A case report and literature review

    PubMed Central

    Sultan, Nishat

    2015-01-01

    A number of developmental anomalies of morphology are there. However, as compared to the more common oral diseases like caries or periodontal problems, they account for a relatively lower number. When present, they may pose various problems of esthetic, function, malocclusion, or possible disposition to other oral problems. Hence, though rare, their timely diagnosis is very vital in proper treatment planning to avoid unseen complications during extractions, endodontic or orthodontic treatment. The present case is of a patient reporting with two very rare developmental anomalies, that is, fusion and root dilaceration, in contralateral sides of the same patient. To the knowledge of the author, reportedly it is the first such case. The terminologies, etiology, and epidemiology of both these anomalies are also discussed. PMID:26604610

  15. Ankyloglossia superior syndrome: Case report and updated literature review.

    PubMed

    Shay, Sophie; West, Alisha N

    2016-07-01

    Ankyloglossia superior (palatoglossal adhesion) is an extremely rare congenital condition with only 14 previously reported cases. When found in conjunction with other congenital abnormalities, such as cleft palate, gastrointestinal malformations, and limb malformations, this anomaly is considered part of ankyloglossia superior syndrome. We present a case of a newborn female found to have ankyloglossia superior syndrome. Surgical repair is also described. We review the available literature and discuss theories regarding the etiology of ankyloglossia superior syndrome. Clinicians should have a high degree of suspicion for other congenital anomalies when a neonate is found to have ankyloglossia superior.

  16. Critical review of the epidemiologic literature regarding the association between congenital heart defects and exposure to trichloroethylene.

    PubMed

    Bukowski, John

    2014-08-01

    The most recent Integrated Risk Information System review of trichloroethylene (TCE; CAS# 79-01-6) has suggested that congenital heart defects (CHD) are a critical endpoint associated with exposure to this solvent. This conclusion was drawn, at least partly, from epidemiologic data, including several relatively recent studies. The current article critically reviews this epidemiologic literature, focusing on study quality and consistency. Literature searches uncovered approximately a dozen studies that specifically addressed associations between TCE and congenital malformations in eight populations. Four of these reported positive associations between TCE and heart defects, with significant relative risks as high as 5-6 in some subgroups. However, each of the positive studies had substantial design or analytical flaws that could easily explain the results, thereby limiting the conclusions that can be drawn. Five studies found no positive association with TCE, and several of these reported substantially fewer cases than expected despite similar/higher exposures compared to positive studies, further detracting from causal conclusions. Overall, this epidemiologic literature provides no substantive or consistent evidence linking TCE to CHD.

  17. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    PubMed

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem.

  18. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    PubMed

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem. PMID:26391432

  19. TOPICAL REVIEW: A review and outlook for an anomaly of scanning tunnelling microscopy (STM): superlattices on graphite

    NASA Astrophysics Data System (ADS)

    Pong, Wing-Tat; Durkan, Colm

    2005-11-01

    anomalous regime of STM; however, there is a lack of a systematic classification of this scattered information. This review article thus serves the purpose of organizing all these results so as to enable a more comprehensive understanding of this phenomenon. We review the discovery of graphite superlattices, the observation of the associated properties, and the research efforts on this subject. An effort is made to envision the future experimental and theoretical research possibilities to unveil the mystery of this anomaly of STM. Applications of graphite superlattices are also proposed.

  20. Congenital Dislocation of the Hip

    PubMed Central

    Premi, J. M.

    1976-01-01

    The implications of a diagnosis of congenital dislocation of the hip and the importance of the role of the family physician in early detection and treatment are identified. A review of the salient clinical features of congenital dislocation of the hip is undertaken. The results of a survey carried out in the author's practice on an unusual incidence of congenital dislocated hip are reviewed. PMID:21308053

  1. 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

  2. Heterotaxy Polysplenia Syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review Of Literature

    PubMed Central

    Rameshbabu, Chittapuram Srinivasan; Gupta, Kanchan Kumar; Qasim, Muhammad; Gupta, Om Prakash

    2015-01-01

    The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome. Patients with heterotaxy syndrome exhibit a wide spectrum of anatomical variations involving thoraco-abdominal structures. We present here an incidental finding of heterotaxy syndrome associated with unique vascular anomalies in a 35 year old male patient evaluated initially for nephrolithiasis by ultrasonography, and intravenous pyelography. Further evaluation by multidetector row computed tomography showed bilateral bilobed lungs with hyparterial bronchi, cardiac apex to the left, five branches from left-sided aortic arch with retroesophageal right subclavian artery, interrupted inferior vena cava with azygos continuation, left renal vein continuing as hemiazygos vein and replaced common hepatic artery arising from the superior mesenteric artery. Other vascular anomalies include right internal iliac vein joining the left common iliac vein and precaval course of the single main right renal artery. Anomalies involving abdominal organs include right-sided stomach, midline liver, multiple splenules (polysplenia) in right upper quadrant of abdomen, short truncated pancreas, intestinal malrotation, inversion of superior mesenteric vessels and a preduodenal portal vein. To the best of our knowledge this is the first report of association of left renal vein continuing as hemiazygos vein, precaval right renal artery and anomalous branching pattern of aortic arch with heterotaxy syndrome. PMID:26629295

  3. Heterotaxy Polysplenia Syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review Of Literature.

    PubMed

    Rameshbabu, Chittapuram Srinivasan; Gupta, Kanchan Kumar; Qasim, Muhammad; Gupta, Om Prakash

    2015-07-01

    The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome. Patients with heterotaxy syndrome exhibit a wide spectrum of anatomical variations involving thoraco-abdominal structures. We present here an incidental finding of heterotaxy syndrome associated with unique vascular anomalies in a 35 year old male patient evaluated initially for nephrolithiasis by ultrasonography, and intravenous pyelography. Further evaluation by multidetector row computed tomography showed bilateral bilobed lungs with hyparterial bronchi, cardiac apex to the left, five branches from left-sided aortic arch with retroesophageal right subclavian artery, interrupted inferior vena cava with azygos continuation, left renal vein continuing as hemiazygos vein and replaced common hepatic artery arising from the superior mesenteric artery. Other vascular anomalies include right internal iliac vein joining the left common iliac vein and precaval course of the single main right renal artery. Anomalies involving abdominal organs include right-sided stomach, midline liver, multiple splenules (polysplenia) in right upper quadrant of abdomen, short truncated pancreas, intestinal malrotation, inversion of superior mesenteric vessels and a preduodenal portal vein. To the best of our knowledge this is the first report of association of left renal vein continuing as hemiazygos vein, precaval right renal artery and anomalous branching pattern of aortic arch with heterotaxy syndrome. PMID:26629295

  4. Congenital Insensitivity to Pain: A Case Report and Review of the Literature

    PubMed Central

    Oberoi, Kinsi; Grewal, Raji P.

    2014-01-01

    Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot's joints. PMID:25309764

  5. Congenital gluteus maximus contracture syndrome - a case report with review of imaging findings

    PubMed Central

    Kotha, Vamshi Krishna; Reddy, Rajasekhar; Reddy, M. Venkateshwar; Moorthy, Rangubatla Sathyanrayana; Kishan, Tatikonda Venkat

    2014-01-01

    Although the clinical features of gluteus maximus contracture syndrome have been frequently described, imaging features have been seldom described. Most commonly reported cases are those following intramuscular injection in the gluteal region although congenital contracture is an uncommon but important occurrence. This condition has most often been reported in children of school going age. These patients often present with difficulty in squatting, limitation of hip motion or specific deformities and often require surgical correction. We describe the plain radiography, ultrasonography (USG) and magnetic resonance imaging (MRI) features of this condition in a patient with no previous known history of intramuscular injections. PMID:24967033

  6. Congenital tumours of the salivary gland: a case report and review.

    PubMed

    Harris, M D; McKeever, P; Robertson, J M

    1990-08-01

    A congenital epithelial tumour of the submandibular salivary gland, occurring in a child of 10 months, is described. The lesion appeared benign and consisted of basal type cells, showing ductal and acinar differentiation with myoepithelial cells. The associated fibrous stroma contained blood vessels and small nerve bundles. A few similar lesions have been reported in the past, some of which showed features of malignancy. Although various names have been proposed, we suggest that these lesions represent a single group derived from a primitive cell line and advocate the use of the term sialoblastoma.

  7. 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

  8. Rare and unusual bleeding manifestations in congenital bleeding disorders: an annotated review.

    PubMed

    Girolami, Antonio; Vettore, Silvia; Ruzzon, Elisabetta; Marinis, Giulia Berti de; Fabris, Fabrizio

    2012-01-01

    Epistaxis, superficial and deep hematomas, hemarthrosis, gastrointestinal bleeding, hematuria represent the most frequent hemorrhagic events in congenital coagulation disorders. Occasionally, bleeding manifestations occur in unusual sites or are peculiar. A clotting defect may alter the clinical aspect of skin conditions or infections (hemorrhagic scabies or varicella). Hemobilia may occur as a complication of transjugular liver biopsy in hemophilia or Bernard-Soulier syndrome. Hemarthrosis of small joints of feet and hands occur in patients with hemophilia treated with protease inhibitors. Intramedullary hematomas of long bones have been described in α2-plasmin inhibitor or fibrinogen deficiencies. Spleen fracture with consequent hemoperitoneum has been reported in patients with fibrinogen deficiency. Rectus muscle sheath hematoma may occur in patients with factor VII (FVII)or FX deficiency. Acute or subacute intestinal obstruction may be caused by intramural wall hematomas in hemophilia and von Willebrand (vW)-disease. Physicians should always keep in mind that a congenital hemorrhagic disorder may cause bleeding in any tissue of the body and therefore alter the normal clinical features of a given disease.

  9. Scintigraphic demonstration of a gallbladder anomaly

    SciTech Connect

    Singh, A.; Holmes, R.A.; Witten, D.M.

    1985-01-01

    Congenital anomalies of the gallbladder are uncommon. In this paper the authors report a case of double gallbladder in which intravenous cholecystokinin analog (CCK) was used to confirm the presence of two ectopic gallbladders rather than other biliary tract anomalies or dilated hepatic ducts.

  10. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  11. A review of the Southern Oscillation - Oceanic-atmospheric circulation changes and related rainfall anomalies

    NASA Technical Reports Server (NTRS)

    Kousky, V. E.; Kagano, M. T.; Cavalcanti, I. F. A.

    1984-01-01

    The region of South America is emphasized in the present consideration of the Southern Oscillation (SO) oceanic and atmospheric circulation changes. The persistence of climate anomalies associated with El Nino-SO events is due to strong atmosphere-ocean coupling. Once initiated, the SO follows a certain sequence of events with clearly defined effects on tropical and subtropical rainfall. Excessive rainfall related to the SO in the central and eastern Pacific, Peru, Ecuador, and southern Brazil, are complemented by drought in Australia, Indonesia, India, West Africa, and northeast Brazil. El Nino-SO events are also associated with dramatic changes in the tropospheric flow pattern over a broad area of both hemispheres.

  12. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  13. Giant bronchogenic cyst with pericardial defect: a case report & literature review in Japan

    PubMed Central

    Kamata, Toshiko; Iwata, Takekazu; Nakatani, Yukio; Yoshino, Ichiro

    2016-01-01

    Congenital pericardial defects are a rare anomaly, found during autopsy and cardiothoracic surgery. We describe a case of a 69-year-old female, with a right-sided congenital pericardial defect associated with a giant bronchogenic cyst (BC) found during surgery. The cyst was resected and the patient developed arrhythmia following surgery. A review of the literature in Japan was performed, focusing on congenital anomalies associated with pericardial defects and its pathogenesis. We paid particular attention to complications following thoracic surgery in patients with pericardial defects and indications of pericardial reconstruction in such patients.

  14. Giant bronchogenic cyst with pericardial defect: a case report & literature review in Japan

    PubMed Central

    Kamata, Toshiko; Iwata, Takekazu; Nakatani, Yukio; Yoshino, Ichiro

    2016-01-01

    Congenital pericardial defects are a rare anomaly, found during autopsy and cardiothoracic surgery. We describe a case of a 69-year-old female, with a right-sided congenital pericardial defect associated with a giant bronchogenic cyst (BC) found during surgery. The cyst was resected and the patient developed arrhythmia following surgery. A review of the literature in Japan was performed, focusing on congenital anomalies associated with pericardial defects and its pathogenesis. We paid particular attention to complications following thoracic surgery in patients with pericardial defects and indications of pericardial reconstruction in such patients. PMID:27621900

  15. Coronary artery anomalies.

    PubMed

    Earls, James P

    2006-12-01

    Coronary artery anomalies are uncommon findings but can be of significant clinical importance in a small number of individuals. Clinical presentation depends on the specific anomaly. Most coronary artery anomalies are benign and clinically insignificant, however, some anomalies are potentially significant and can lead to heart failure and even death. Noninvasive imaging has emerged as the preferred way to image coronary anomalies. Both electron beam computed tomography (EBCT) and magnetic resonance angiography (MRA) are useful for the diagnosis of anomalous coronary arteries. Recently, MDCT has also proven to be very useful in the detection and characterization of anomalous coronary arteries. This chapter will review the appearance of the most commonly encountered coronary anomalies on MDCT. PMID:17709086

  16. A Review of Magnetic Anomaly Field Data for the Arctic Region: Geological Implications

    NASA Technical Reports Server (NTRS)

    Taylor, Patrick T.; vonFrese, Ralph; Roman, Daniel; Frawley, James J.

    1999-01-01

    Due to its inaccessibility and hostile physical environment remote sensing data, both airborne and satellite measurements, has been the main source of geopotential data over the entire Arctic region. Ubiquitous and significant external fields, however, hinder crustal magnetic field studies These potential field data have been used to derive tectonic models for the two major tectonic sectors of this region, the Amerasian and Eurasian Basins. The latter is dominated by the Nansen-Gakkel or Mid-Arctic Ocean Ridge and is relatively well known. The origin and nature of the Alpha and Mendeleev Ridges, Chukchi Borderland and Canada Basin of the former are less well known and a subject of controversy. The Lomonosov Ridge divides these large provinces. In this report we will present a summary of the Arctic geopotential anomaly data derived from various sources by various groups in North America and Europe and show how these data help us unravel the last remaining major puzzle of the global plate tectonic framework. While magnetic anomaly data represent the main focus of this study recently derived satellite gravity data are playing a major role in Arctic studies.

  17. A Review of Magnetic Anomaly Field Data for the Arctic Region: Geological Implications

    NASA Technical Reports Server (NTRS)

    Taylor, Patrick T.; vonFrese, Ralph; Roman, Daniel; Frawley, James J.

    1999-01-01

    Due to its inaccessibility and hostile physical environment remote sensing data, both airborne and satellite measurements, has been the main source of geopotential data over the entire Arctic region. Ubiquitous and significant external fields, however, hinder crustal magnetic field studies. These potential field data have been used to derive tectonic models for the two major tectonic sectors of this region, the Amerasian and Eurasian Basins. The latter is dominated by the Nansen-Gakkel or Mid-Arctic Ocean Ridge and is relatively well known. The origin and nature of the Alpha and Mendeleev Ridges, Chukchi Borderland and Canada Basin of the former are less well known and a subject of controversy. The Lomonosov Ridge divides these large provinces. In this report we will present a summary of the Arctic geopotential anomaly data derived from various sources by various groups in North America and Europe and show how these data help us unravel the last remaining major puzzle of the global plate tectonic framework. While Magnetic anomaly data represent the main focus of this study recently derived satellite gravity data (Laxon and McAdoo, 1998) are playing a major role in Arctic studies.

  18. An evidence-based review of the current treatment of congenital diaphragmatic hernia.

    PubMed

    Haroon, Junaid; Chamberlain, Ronald S

    2013-02-01

    Congenital diaphragmatic hernia is a rare but severe condition affecting 1 in 2000 to 3000 newborns with a survival rate of 67%. Although regular antenatal screening allows prenatal diagnosis in many cases, traditionally treatment has been based on postnatal surgical repair. Recent literature has pointed out the survival benefits of initial stabilization and the use of gentle ventilation strategies prior to definitive treatment, shifting the trend from immediate to delayed surgical repair. Advances in fetal intervention have allowed the introduction of fetal endoscopic tracheal occlusion as a method to hasten lung development before birth in order to minimize postnatal morbidity. Despite appropriate treatment, the long-term outcomes of these patients are plagued with numerous complications, associated with the primary pathology and also aggressive therapeutic measures. International centers of excellence have recently come together in an effort to standardize the care of such patients in hopes of maximizing their outcomes.

  19. Congenital disorder of true cyclopia with polydactylia: case report and review of the literature.

    PubMed

    Deftereou, T E; Tsoulopoulos, V; Alexiadis, G; Papadopoulos, E; Chouridou, E; Katotomichelakis, M; Lambropoulou, M

    2013-01-01

    Cyclopia is a rare type of holoprosencephaly and a congenital disorder characterized by the failure of the embryonic forebrain to properly divide the orbits of the eye into two cavities (the embryonic forebrain is normally responsible for inducing the development of the orbits). As a result a birth defect in which there is only one eye is developed. This eye is centrally placed in the area normally occupied by the root of the nose. As a rule, there is a missing nose or a non-functioning nose in the form of a proboscis (a tubular appendage) located above the central eye. In this report the macroscopic, radiographic, and immunohistochemical findings of a case of true cyclopia in a female fetus are described. Cyclopia is a lethal condition that is associated with dramatic symmetric deformities of the nose, skull, orbits, and brain. PMID:24283191

  20. Congenital sialolipoma of the parotid gland first reported case and review of the literature.

    PubMed

    Hornigold, R; Morgan, P R; Pearce, A; Gleeson, M J

    2005-03-01

    Tumours of the parotid gland in children are uncommon, and represent only 1.3% of all benign salivary tumours. Lipomas of the parotid are also rare, and account for 0.5% of all parotid gland tumours. Sialolipoma is a new variant of salivary gland lipoma, consisting of adipose and glandular tissue that was first proposed by Nagao et al. in 2001. Ten cases of parotid gland lipoma associated with glandular elements have been previously reported in the literature. All have been in adults and none in children. We present the first reported case of congenital sialolipoma that had developed in a female infant. It was managed successfully by superficial parotidectomy undertaken at ten weeks of age.

  1. Congenital skull defect and neurofibroma: without scalp and other abnormalities.

    PubMed

    Wang, Jie-Cong; Wei, Liu; Xu, Jia; Liu, Jian-Feng; Gui, Lai

    2012-07-01

    Congenital skull defect is a rare malformation that is usually associated with congenital anomalies of the scalp and comparable lesions in the brain, spinal cord, limbs, and skeletal muscle. Most previously reported cases have described skull defects with aplasia cutis congenita and other congenital abnormalities. Very few patients with skull defects present with an intact scalp or neurofibroma. The authors report an adult patient with a rare congenital skull defect and local neurofibroma.

  2. 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

  3. Indo-western Pacific ocean capacitor and coherent climate anomalies in post-ENSO summer: A review

    NASA Astrophysics Data System (ADS)

    Xie, Shang-Ping; Kosaka, Yu; Du, Yan; Hu, Kaiming; Chowdary, Jasti S.; Huang, Gang

    2016-04-01

    ENSO induces coherent climate anomalies over the Indo-western Pacific, but these anomalies outlast SST anomalies of the equatorial Pacific by a season, with major effects on the Asian summer monsoon. This review provides historical accounts of major milestones and synthesizes recent advances in the endeavor to understand summer variability over the Indo-Northwest Pacific region. Specifically, a large-scale anomalous anticyclone (AAC) is a recurrent pattern in post-El Ni˜no summers, spanning the tropical Northwest Pacific and North Indian oceans. Regarding the ocean memory that anchors the summer AAC, competing hypotheses emphasize either SST cooling in the easterly trade wind regime of the Northwest Pacific or SST warming in the westerly monsoon regime of the North Indian Ocean. Our synthesis reveals a coupled ocean-atmosphere mode that builds on both mechanisms in a two-stage evolution. In spring, when the northeast trades prevail, the AAC and Northwest Pacific cooling are coupled via wind-evaporation-SST feedback. The Northwest Pacific cooling persists to trigger a summer feedback that arises from the interaction of the AAC and North Indian Ocean warming, enabled by the westerly monsoon wind regime. This Indo-western Pacific ocean capacitor (IPOC) effect explains why El Ni˜no stages its last act over the monsoonal Indo-Northwest Pacific and casts the Indian Ocean warming and AAC in leading roles. The IPOC displays interdecadal modulations by the ENSO variance cycle, significantly correlated with ENSO at the turn of the 20th century and after the 1970s, but not in between. Outstanding issues, including future climate projections, are also discussed.

  4. Persistent Primitive Hypoglossal Artery (PPHA) - A Rare Anomaly with Literature Review.

    PubMed

    Srinivas, M R; Vedaraju, K S; Manjappa, B H; Nagaraj, B R

    2016-01-01

    Persistent primitive hypoglossal artery (PPHA) is a rare embryonic carotid vertebrobasilar artery anastomosis. Hypoglossal artery arises from the internal carotid artery (ICA) between the C1 and C2 vertebral levels and traverses through the hypoglossal canal to join the vertebro-basilar system. We present a rare case of an anomalous right sided PPHA as a sole supply to posterior circulation of brain with absent/hypoplastic bilateral vertebral arteries in a two year child who had presented with acute left sided haemiplegia. Three dimensional time of flight magnetic resonance angiography identified an anomalous vessel arising from the right internal carotid artery at the level of axis vertebra and joining the vertebra-basilar arterial system after coursing through the right hypoglossal canal. This anomaly when present may predispose the person to aneurysm formation, ischaemia in the posterior circulation and atherosclerotic disease of the intracranial vessels. PMID:26894148

  5. Persistent Primitive Hypoglossal Artery (PPHA) – A Rare Anomaly with Literature Review

    PubMed Central

    Vedaraju, KS; Manjappa, BH; Nagaraj, BR

    2016-01-01

    Persistent primitive hypoglossal artery (PPHA) is a rare embryonic carotid vertebrobasilar artery anastomosis. Hypoglossal artery arises from the internal carotid artery (ICA) between the C1 and C2 vertebral levels and traverses through the hypoglossal canal to join the vertebro-basilar system. We present a rare case of an anomalous right sided PPHA as a sole supply to posterior circulation of brain with absent/hypoplastic bilateral vertebral arteries in a two year child who had presented with acute left sided haemiplegia. Three dimensional time of flight magnetic resonance angiography identified an anomalous vessel arising from the right internal carotid artery at the level of axis vertebra and joining the vertebra-basilar arterial system after coursing through the right hypoglossal canal. This anomaly when present may predispose the person to aneurysm formation, ischaemia in the posterior circulation and atherosclerotic disease of the intracranial vessels. PMID:26894148

  6. 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

  7. 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

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

    PubMed

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

    2016-07-01

    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

  9. Safety of Benzathine Penicillin for Preventing Congenital Syphilis: A Systematic Review

    PubMed Central

    Galvao, Tais F.; Silva, Marcus T.; Serruya, Suzanne J.; Newman, Lori M.; Klausner, Jeffrey D.; Pereira, Mauricio G.; Fescina, Ricardo

    2013-01-01

    Objective To estimate the risk of serious adverse reactions to benzathine penicillin in pregnant women for preventing congenital syphilis. Methods We searched for clinical trials or cohorts that assessed the incidence of serious adverse reactions to benzathine penicillin in pregnant women and the general population (indirect evidence). MEDLINE, EMBASE, Scopus and other databases were searched up to December 2012. The GRADE approach was used to assess quality of evidence. Absolute risks of each study were calculated along with their 95% confidence intervals (95% CI). We employed the DerSimonian and Laird random effects model in the meta-analyses. Results From 2,765 retrieved studies we included 13, representing 3,466,780 patients. The studies that included pregnant women were conducted to demonstrate the effectiveness of benzathine penicillin: no serious adverse reactions were reported among the 1,244 pregnant women included. In the general population, among 2,028,982 patients treated, 4 died from an adverse reaction. The pooled risk of death was virtually zero. Fifty-four cases of anaphylaxis were reported (pooled absolute risk = 0.002%; 95% CI: 0%–0.003% I2 = 12%). From that estimate, penicillin treatment would be expected to result in an incidence of 0 to 3 cases of anaphylaxis per 100,000 treated. Any adverse reactions were reported in 6,377 patients among 3,465,322 treated with penicillin (pooled absolute risk = 0.169%; 95% CI: 0.073%–0.265% I2 = 97%). The quality of evidence was very low. Conclusion Studies that assessed the risk of serious adverse events due to benzathine penicillin treatment in pregnant women were scarce, but no reports of adverse reactions were found. The incidence of severe adverse outcomes was very low in the general population. The risk of treating pregnant women with benzathine penicillin to prevent congenital syphilis appears very low and does not outweigh its benefits. Further research is needed to improve the

  10. Coronary artery problems and disease in adults with congenital heart disease: how to evaluate, how to prevent, how to treat.

    PubMed

    Cataldo, S; Stuart, A G

    2014-10-01

    There are a wide variety of coronary artery anomalies and disease in adults with congenital heart disease (CHD). In fact, the increasing burden of acquired coronary artery disease (CAD) has to be considered in addition to congenital abnormalities of the coronary arteries, isolated or associated to other congenital diseases. This is largely a consequence of the increasing number of patients reaching older age. Due to complex underlying cardiac anatomy, previous surgery and comorbidities, treatment can be challenging. Individualized and multidisciplinary management involving congenital heart cardiologists, cardiac surgeons, coronary interventionists and imaging specialists is essential. This review gives an overview of coronary artery involvement in adults with CHD, summarizes the current literature and focuses on prevention, diagnosis and treatment. The potential role of cardiovascular risk factors for CAD is also discussed.

  11. Morning glory disc anomaly with Chiari type I malformation.

    PubMed

    Arlow, Tim; Arepalli, Sruthi; Flanders, Adam E; Shields, Carol L

    2014-04-30

    Morning glory disc anomaly is a rare optic nerve dysplasia associated with various neovascular abnormalities. Due to these associations, children with morning glory disc anomaly have brain imaging and angiography to detect other congenital defects. The authors report the case of an infant with morning glory disc anomaly and coexisting Chiari type I malformation.

  12. A rare combination of brachymetatarsia and congenital hallux varus: case report and review of the literature.

    PubMed

    Froehlich, Vanessa; Wuenschel, Markus

    2014-01-01

    Hallux varus is defined as a medial deviation of the phalanx at the first metatarsophalangeal joint and can be congenital or acquired. Brachymetatarsia is defined as shortening of the metatarsal bones. A combination of hallux varus and brachymetatarsia is rare. A 15-year-old girl presented to our outpatient clinic complaining of problems with her feet. A distinctive hallux varus was present bilaterally combined with a brachymetatarsia of the first metatarsals. The patient reported discomfort. She was restricted in her activities and had severe psychological strain owing to the deformity. We decided on surgery. First, a Pennig MiniFixator for callus distraction of the first metatarsal bone was applied. Owing to the increased plantar subluxation of the phalanx during distraction, an extension of the external fixator was administered so that the hallux could be repositioned to a physiologically satisfying position. After sufficient callus formation, the hardware was removed 14 weeks after surgery. Thereafter, the phalanx moved back to the subluxed position. Finally, an arthrodesis of the first metatarsophalangeal joint was performed with a locking plate. Surgery should not be made only for cosmesis and associated psychological aspects; but, discomfort should be the deciding factor. The postoperative clinical and cosmetic results in our case were good, and the patient was quite satisfied. There was no longer any preoperative discomfort and pain. PMID:24504582

  13. [First branchial cleft anomalies].

    PubMed

    Nikoghosyan, Gohar; Krogdahl, Annelise; Godballe, Christian

    2008-05-12

    First branchial cleft anomalies are congenital rare lesions that can sometimes be difficult to diagnose. During the normal embryonic development the outer ear canal derives from the first branchial cleft. Abnormal development can result in production of a cyst, sinus or fistula with recurring infections. Early and correct diagnosis is necessary for the correct choice of surgical set-up in which identification and preservation of the facial nerve is an important step. A case of first branchial cleft sinus is presented with further discussion of classification, diagnostics and treatment. PMID:18489895

  14. The risks of statin use in pregnancy: A systematic review.

    PubMed

    Karalis, Dean G; Hill, Alethea N; Clifton, Shari; Wild, Robert A

    2016-01-01

    Statins are contraindicated in pregnancy; however, as women delay pregnancy and statin use increases the risk of statin exposure in pregnancy is likely to rise. In contrast to some early reports that statins are teratogenic, more recent observational studies have called into question the teratogenic risk of statins. Therefore, whether statins are associated with congenital anomalies or other pregnancy complications remains an important clinical question. This article provides an up-to-date systematic review on the risks of statins in pregnancy. We conducted a literature search to identify relevant English language studies related to statin exposure and pregnancy. Single case reports, animal studies, studies only published in abstract form, and non-English language studies were excluded. A total of 16 clinical studies were included in this systematic review. Although early uncontrolled case series reported congenital anomalies associated with statin use, more recent observational studies did not report an increased risk of congenital anomalies with statin exposure in pregnancy when compared to control groups or the prevalence of congenital anomalies in the general population. Our findings show no clear relationship of congenital anomalies with statin use in pregnancy, and our study supports the findings that statins are probably not teratogenic. However, until more information is available, statins should still be avoided in pregnancy. PMID:27678424

  15. Hysterosalpingographic features of cervical abnormalities: acquired structural anomalies

    PubMed Central

    Zafarani, F; Shahrzad, G

    2015-01-01

    Cervical abnormalities may be congenital or acquired. Congenital cervical structural anomalies are relatively uncommon, whereas acquired cervical abnormalities are commonly seen in gynaecology clinics. Acquired abnormalities of the cervix can cause cervical factor infertility and recurrent spontaneous abortion. Various imaging tools have been used for evaluation of the uterine cavity and fallopian tubes. Hysterosalpingography (HSG) is a quick and minimally invasive tool for evaluation of infertility that facilitates visualization of the inner surfaces of the uterine cavity and fallopian tubes, as well as the cervical canal and isthmus. The lesions of the uterine cervix show various imaging manifestations on HSG such as narrowing, dilatation, filling defects, irregularities and diverticular projections. This pictorial review describes and illustrates the hysterosalpingographic appearances of normal variants and acquired structural abnormalities of the cervix. Accurate diagnosis of such cases is considered essential for optimal treatment. The pathological findings and radiopathological correlation will be briefly discussed. PMID:26111269

  16. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia. PMID:17650728

  17. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  18. Genetics and epidemiology, congenital anomalies and cancer

    SciTech Connect

    Friedman, J.M.

    1997-03-01

    Many of the basic statistical methods used in epidemiology - regression, analysis of variance, and estimation of relative risk, for example - originally were developed for the genetic analysis of biometric data. The familiarity that many geneticists have with this methodology has helped geneticists to understand and accept genetic epidemiology as a scientific discipline. It worth noting, however, that most of the work in genetic epidemiology during the past decade has been devoted to linkage and other family studies, rather than to population-based investigations of the type that characterize much of mainstream epidemiology. 30 refs., 2 tabs.

  19. Experiences and Outcomes of Transition from Pediatric to Adult Health Care Services for Young People with Congenital Heart Disease: A Systematic Review.

    PubMed

    Heery, Emily; Sheehan, Aisling M; While, Alison E; Coyne, Imelda

    2015-01-01

    This review synthesizes the empirical literature on outcomes and experiences of transfer and transition from pediatric to adult care for young people with congenital heart disease. A systematic review of papers published between January 2001 and May 2013 that examined outcomes or experiences of transfer and transition among young people with congenital heart disease was conducted. Data were extracted by two independent reviewers with the outcomes data combined using narrative synthesis and the experiences data integrated using thematic synthesis. Thirteen papers were included in the review: six reported outcomes following transfer, six reported experiences of transfer and transition, and one reported both outcomes and experiences. The review data indicate that high proportions of young people were lost to follow-up or experienced long gaps in care after leaving pediatric cardiology. Factors that protected against loss to follow-up or lapse in care included: beliefs that specialized adult care was necessary; poorer health status; attendance at pediatric appointments without parents; and pediatric referral to an adult congenital heart disease center. Data on experiences highlighted that many young people were unconcerned about transition, but lacked knowledge about their condition and were insufficiently prepared for transfer. In terms of adult services, many young people desired continuity in the quality of care, youth-oriented facilities, a personalized approach, and for their parents to remain involved in their care, but in a secondary, supportive capacity. In conclusion, the high proportions of young people lost to follow-up highlight the need for formal transition programs, which ensure a planned and coordinated transfer. Patients with congenital heart disease need education throughout adolescence about the implications of their condition, the differences between pediatric and adult services, and self-care management.

  20. Congenital Midline Tongue Base Mass in An Infant: Lingual Hamartoma

    PubMed Central

    Azman, Mawaddah; See, Goh Bee

    2016-01-01

    Lingual hamartoma is a rare finding of congenital midline posterior tongue mass. The lesion may be seen as a single anomaly or maybe associated with syndrome especially the Oral Facial Digital Syndrome (OFDS). Here, we report an otherwise normal and healthy two-month-old boy with a congenital midline base of tongue mass presented with snoring and episodic vomiting since the age of 1 month. Tumour excision from the area of foramen of caecum recovered a pinkish pedunculated tumour. Histopathology examination confirmed the diagnosis of leiomyomatous lingual hamartoma. Differential diagnosis, especially for midline tongue mass and other paediatric tongue lesions are discussed. We also discuss the epidemiology, histopathologic features, treatment and prognosis of lingual hamartoma based on the literature review. PMID:27790477

  1. Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature

    PubMed Central

    Agarwal, Shweta; Majumder, Parthopratim Dutta; Srinivasan, Bhaskar; Iyer, Geetha

    2015-01-01

    A 28-year-old presented with complaints of severe pain and redness in the left eye since 2 weeks. He had similar complaints in the right eye 2 years back for which he had undergone a scleral patch graft. Best corrected visual acuity was 20/20 in both eyes. The right had a well vascularized scleral graft and rest of the anterior segment was normal. The left eye had inferior conjunctival congestion with an area of the scleral melt with uveal show just temporal to the limbus in the interpalbebral area. The cornea was clear and anterior chamber was quiet in the left eye. Applanation tonometry and fundus evaluation were normal in both eyes. Physical examination revealed hyperpigmented skin lesion, hypertrichosis and absorption of distal phalanges. Laboratory, ocular and physical findings confirmed the diagnosis of congenital erythropoietic porphyria. He was on oral steroids 40 mg/day since 2 weeks and topical antibiotics and lubricants. He was advised to continue the same and was taken up for scleral patch graft with fibrin glue in the left eye. Postoperatively he was continued on topical and oral steroids and lubricants.3 weeks later the left eye had stabilized however patient came with a melt in the right eye. Since it was an early melt, we went ahead with cyanoacrylate glue and bandage contact lens in the right eye and started him on topical steroids for the right eye also. Three months later both the eyes were stable, and the patient was gradually tapered off the steroids. PMID:26903733

  2. Laser treatment of congenital melanocytic nevi: a review of the literature.

    PubMed

    Bray, Fleta N; Shah, Vidhi; Nouri, Keyvan

    2016-01-01

    Congenital melanocytic nevi (CMN) are nevi that are present from birth and occur in approximately 1 % of newborns. CMN may be cosmetically disfiguring and are at risk for malignant transformation. For these two reasons, CMN are frequently treated. A variety of treatment modalities have been utilized with variable efficacy, including excision, dermabrasion, curettage, chemical peels, radiation therapy, cryotherapy, electrosurgery, and lasers. The current treatment of choice for CMN is surgical excision. However, some CMN occur in cosmetically sensitive areas, where a surgical scar is less acceptable, or in inoperable locations. For these reasons, there has been increasing interest in the potential for laser treatment of CMN. The lasers that have been studied to date for the treatment of CMN include pigment-specific lasers, including ruby (694 nm), alexandrite (755 nm), and Nd:yttrium aluminum garnet (YAG) (1064 nm), as well as ablative laser treatment with CO2 laser (10,600 nm) and Er:YAG (2940 nm). To date, ruby lasers have been studied most extensively in the treatment of CMN. Ruby laser has been shown to improve the cosmetic appearance of some CMN and may be cautiously considered for lesions located in cosmetically sensitive areas that are less amenable to surgical excision. For very large CMN, ruby laser has been tried as an alternative to extensive surgical and grafting procedures. Dual treatment with Q-switched ruby laser and normal mode ruby laser may provide the best outcomes; however, multiple treatment sessions should be anticipated. The practicality and expense of multiple treatments should be discussed with the patient prior to initiating treatment. Importantly, because of the persistence of dermal nevus cells, lifelong follow-up is required for all laser-treated CMN, even those with excellent cosmetic effect. PMID:26563957

  3. Simultaneous Occurrence of Glial Heterotopia and Meningocele in the Orbit with Clinical Anophthalmia and Neurological Anomalies.

    PubMed

    Pushker, Neelam; Bajaj, Mandeep S; Mehta, Mridula; Kashyap, Seema; Yadav, Prashant; Meel, Rachna; Sudhan, Madhu

    2009-11-01

    The authors describe a 5-year-old boy who had three congenital anomalies (clinical anophthalmos, meningocele, and glial heterotopia) in the orbit. These were associated with multiple neurological anomalies.

  4. A Review of Pediatric Chronic Kidney Disease.

    PubMed

    Kaspar, C D W; Bholah, R; Bunchman, T E

    2016-01-01

    Chronic kidney disease is complex in both adults and children, but the disease is far from the same between these populations. Here we review the marked differences in etiology, comorbidities, impact of disease on growth and quality of life, issues unique to adolescents and transitions to adult care, and special considerations of congenital kidney and urinary tract anomalies for transplantation. PMID:26766175

  5. Variability and Predictability of West African Droughts. A Review in the Role of Sea Surface Temperature Anomalies

    NASA Technical Reports Server (NTRS)

    Rodriguez-Fonseca, Belen; Mohino, Elsa; Mechoso, Carlos R.; Caminade, Cyril; Biasutti, Michela; Gaetani, Marco; Garcia-Serrano, J.; Vizy, Edward K.; Cook, Kerry; Xue, Yongkang; Polo, Irene; Losada, Teresa; Druyan, Leonard M.; Fontaine, Bernard; Bader, Juergen; Doblas-Reyes, Francisco J.; Goddard, Lisa; Janicot, Serge; Arribas, Alberto; Lau, William; Colman, Andrew; Vellinga, M.; Rowell, David P.; Kucharski, Fred; Voldoire, Aurore

    2015-01-01

    The Sahel experienced a severe drought during the 1970s and 1980s after wet periods in the 1950s and 1960s. Although rainfall partially recovered since the 1990s, the drought had devastating impacts on society. Most studies agree that this dry period resulted primarily from remote effects of sea surface temperature (SST) anomalies amplified by local land surface-atmosphere interactions. This paper reviews advances made during the last decade to better understand the impact of global SST variability on West African rainfall at interannual to decadal time scales. At interannual time scales, a warming of the equatorial Atlantic and Pacific/Indian Oceans results in rainfall reduction over the Sahel, and positive SST anomalies over the Mediterranean Sea tend to be associated with increased rainfall. At decadal time scales, warming over the tropics leads to drought over the Sahel, whereas warming over the North Atlantic promotes increased rainfall. Prediction systems have evolved from seasonal to decadal forecasting. The agreement among future projections has improved from CMIP3 to CMIP5, with a general tendency for slightly wetter conditions over the central part of the Sahel, drier conditions over the western part, and a delay in the monsoon onset. The role of the Indian Ocean, the stationarity of teleconnections, the determination of the leader ocean basin in driving decadal variability, the anthropogenic role, the reduction of the model rainfall spread, and the improvement of some model components are among the most important remaining questions that continue to be the focus of current international projects.

  6. 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.

  7. 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 ...

  8. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  9. 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 ...

  10. Congenital myopathies.

    PubMed

    Romero, Norma Beatriz; Clarke, Nigel F

    2013-01-01

    Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis of a subtype of congenital myopathy is largely based on the presence of specific structural abnormalities in the skeletal muscle detected by enzyme-histochemistry and electron microscopy studies. During the last decades there have been significant advances in the identification of the genetic basis of most congenital myopathies. However, there is significant genetic heterogeneity within the main groups of congenital myopathies, and mutations in one particular gene may also cause diverse clinical and morphological phenotypes. Thus, the nosography and nosology in this field is still evolving. PMID:23622357

  11. 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

  12. [Congenital analgesia].

    PubMed

    Accornero, N; Bini, G; Cruccu, G

    1980-01-01

    The case of a 12 years old boy with a congenital anaesthesia covering all cutaneous and visceral districts is reported. There were no other neurological abnormalities apart a light mental retardation and loss of axon reflex after intradermal injection of hystamine. Notwithstanding this last finding a diagnosis of congenital indifference to pain was made. The differential diagnosis between indifference and insensitivity to pain is discussed. PMID:6162189

  13. Chromosome abnormalities and the genetics of congenital corneal opacification.

    PubMed

    Mataftsi, A; Islam, L; Kelberman, D; Sowden, J C; Nischal, K K

    2011-01-01

    Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed.

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

    PubMed Central

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

    2014-01-01

    Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate. PMID:26023505

  15. 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.

  16. 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. PMID:27621790

  17. 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.

  18. 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

  19. Preferential Associated Anomalies in 818 Cases of Microtia in South America

    PubMed Central

    Luquetti, Daniela V; Cox, Timothy C; Lopez-Camelo, Jorge; Dutra, Maria da Graça; Cunningham, Michael L; Castilla, Eduardo E

    2013-01-01

    The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia. PMID:23554119

  20. Gall-Bladder Agenesis and Associated Anomalies

    PubMed Central

    Shorey, Brian; Spigelman, Allan D.

    1995-01-01

    Congenital absence of the gall-bladder is a rare condition. It is sometimes associated with other congenital defects. We report here two cases of gall-bladder agenesis discovered at laparoscopy. Both had a history of skeletal and cardiovascular anomalies. The investigation of patients with absent gall-bladder can be very difficult. Ultrasound scanning is usually inconclusive and further noninvasive tests should be performed to establish the diagnosis and prevent an unnecessary operation. The presence of other congenital defects should alert the clinician to the possibility of gall-bladder agenesis. PMID:18612357

  1. 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

  2. Interpatient phenotypic inconsistency in severe congenital hemophilia: a systematic review of the role of inherited thrombophilia.

    PubMed

    Franchini, Massimo; Montagnana, Martina; Targher, Giovanni; Veneri, Dino; Zaffanello, Marco; Salvagno, Gian Luca; Manzato, Franco; Lippi, Giuseppe

    2009-04-01

    It is well known that the clinical phenotype of hemophilia may vary greatly among patients with the same apparent level of coagulation factor and the same genetic mutation. Thus, patients with severe hemophilia may experience a severe phenotype or only a milder bleeding tendency, suggesting some other moderating influence. To elucidate the mechanism of this heterogeneity, some investigators have recently suggested that inherited thrombophilic factors may play a role in the milder clinical presentation of severe hemophilia. In this review, we summarize current knowledge with respect to the modulation of the clinical phenotype of severe hemophilia by prothrombotic genetic risk factors. Although the published literature seems to indicate a protective effect for the coinheritance of factor V Leiden, the limited data available do not permit any firm conclusions. Further trials on a large population of patients are needed to establish the role of genetic thrombophilia in the phenotypic expression of severe hemophilia.

  3. A surprising content of congenital hernia: complete splenogonadal fusion band

    PubMed Central

    Lakshmanan, Prakash Manikka; Reddy, Ajit Kumar; Nutakki, Aditya

    2014-01-01

    Splenogonadal fusion is a rare congenital anomaly. We present the case of a 6-year-old boy who presented with a left inguinoscrotal swelling. With a clinical diagnosis of left congenital inguinal hernia the patient was taken up for explorative laparotomy where a transperitoneal band was noted adherent to the left testis. Biopsy revealed normal splenic tissue. Postoperatively the boy was imaged and a diagnosis of splenogonadal fusion was made. This article illustrates the imaging features of this rare anomaly. PMID:24671325

  4. [Pediatric cardiology and congenital heart disease: from fetus to adult].

    PubMed

    Subirana, M Teresa; Oliver, José M; Sáez, José M; Zunzunegui, José L

    2012-01-01

    This article contains a review of some of the most important publications on congenital heart disease and pediatric cardiology that appeared in 2010 and up until September 2011. Of particular interest were studies on demographic changes reported in this patient population and on the need to manage the patients' transition from the pediatric to the adult cardiology department. This transition has given rise to the appearance of new areas of interest: for example, pregnancy in women with congenital heart disease, and the effect of genetic factors on the etiology and transmission of particular anomalies. In addition, this review considers some publications on fetal cardiology from the perspective of early diagnosis and, if possible, treatment. There follows a discussion on new contributions to Eisenmenger's syndrome and arrhythmias, as well as on imaging techniques, interventional catheterization and heart transplantation. Finally, there is an overview of the new version of clinical practice guidelines on the management of adult patients with congenital heart disease and of recently published guidelines on pregnancy in women with heart disease, both produced by the European Society of Cardiology.

  5. Brain Reorganization following Intervention in Children with Congenital Hemiplegia: A Systematic Review

    PubMed Central

    Inguaggiato, E.; Sgandurra, G.; Perazza, S.; Guzzetta, A.; Cioni, G.

    2013-01-01

    Noninvasive rehabilitation strategies for children with unilateral cerebral palsy are routinely used to improve hand motor function, activity, and participation. Nevertheless, the studies exploring their effects on brain structure and function are very scarce. Recently, structural neuroplasticity was demonstrated in adult poststroke patients, in response to neurorehabilitation. Our purpose is to review current evidence on the effects of noninvasive intervention strategies on brain structure or function, in children with unilateral cerebral palsy. The main literature databases were searched up to October 2013. We included studies where the effects of upper limb training were evaluated at neurofunctional and/or neurostructural levels. Only seven studies met our selection criteria; selected studies were case series, six using the intervention of the constraint-induced movement therapy (CIMT) and one used virtual reality therapy (VR). CIMT and VR seem to produce measurable neuroplastic changes in sensorimotor cortex associated with enhancement of motor skills in the affected limb. However, the level of evidence is limited, due to methodological weaknesses and small sample sizes of available studies. Well-designed and larger experimental studies, in particular RCTs, are needed to strengthen the generalizability of the findings and to better understand the mechanism of intervention-related brain plasticity in children with brain injury. PMID:24367726

  6. Brain reorganization following intervention in children with congenital hemiplegia: a systematic review.

    PubMed

    Inguaggiato, E; Sgandurra, G; Perazza, S; Guzzetta, A; Cioni, G

    2013-01-01

    Noninvasive rehabilitation strategies for children with unilateral cerebral palsy are routinely used to improve hand motor function, activity, and participation. Nevertheless, the studies exploring their effects on brain structure and function are very scarce. Recently, structural neuroplasticity was demonstrated in adult poststroke patients, in response to neurorehabilitation. Our purpose is to review current evidence on the effects of noninvasive intervention strategies on brain structure or function, in children with unilateral cerebral palsy. The main literature databases were searched up to October 2013. We included studies where the effects of upper limb training were evaluated at neurofunctional and/or neurostructural levels. Only seven studies met our selection criteria; selected studies were case series, six using the intervention of the constraint-induced movement therapy (CIMT) and one used virtual reality therapy (VR). CIMT and VR seem to produce measurable neuroplastic changes in sensorimotor cortex associated with enhancement of motor skills in the affected limb. However, the level of evidence is limited, due to methodological weaknesses and small sample sizes of available studies. Well-designed and larger experimental studies, in particular RCTs, are needed to strengthen the generalizability of the findings and to better understand the mechanism of intervention-related brain plasticity in children with brain injury. PMID:24367726

  7. 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

  8. You are never too old for a congenital disease!

    PubMed Central

    Khanna, Mukul; Sarkisian, Saro; Tran, Phu; Ghobrial, Ibrahim I.

    2013-01-01

    Congenital diseases are sometimes overlooked by physicians because of their rarity or because of late onset of symptoms, which may delay treatment plans. This is illustrated in our patient who presented with dysphagia along with chest pain and who was found to have a congenital vascular anomaly, detected in her fifth decade of life. PMID:24392213

  9. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  10. Congenital Self-Healing Reticulohistiocytosis

    PubMed Central

    Lee, Young H.; Talekar, Mala K.; Chung, Catherine G.; Bell, Moshe D.

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congenital self-healing reticulohistiocytosis. A review of the disorder, including diagnosis and evaluation, is presented. PMID:24578781

  11. 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…

  12. 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

  13. Imaging of facial anomalies.

    PubMed

    Castillo, M; Mukherji, S K

    1995-01-01

    CT and MRI. In these patients, imaging of the brain is essential. Patients with suspected extranasal, intranasal, or mixed heterotopia may need images with CT or MRI or both. The last of the anomalies in this region is the presence of ectodermlined tracts and sinuses that may or may not be accompanied with masses. When these masses are located in the midline, they are almost always dermoids, whereas masses located off-midline may also be epidermoids. This latter group of anomalies is important because of its potential communication with the intracranial contents and the possibility of infection. Adequate imaging may require both CT and MRI. Midline facial clefts may be divided into common and complex. Common clefts represent the great majority and are isolated cosmetic defects that generally do not require imaging studies. Complex facial clefts with hypertelorism are almost always a part of the holoprosencephalies; imaging of the brain is more important than is imaging of the cleft proper. The studies should be obtained with MRI. Complex facial clefts in the presence of hypertelorism are most likely related to the midline cleft syndromes. This very rare and intricate group of disorders is generally accompanied with severe brain and eye anomalies. Imaging of these patients is better performed with both CT and MRI. We review common and uncommon facial anomalies. We have tried to approach them according to their clinical importance by dividing them into those with and without airway compromise. PMID:8889386

  14. 3D Printing to Guide Ventricular Assist Device Placement in Adults With Congenital Heart Disease and Heart Failure.

    PubMed

    Farooqi, Kanwal M; Saeed, Omar; Zaidi, Ali; Sanz, Javier; Nielsen, James C; Hsu, Daphne T; Jorde, Ulrich P

    2016-04-01

    As the population of adults with congenital heart disease continues to grow, so does the number of these patients with heart failure. Ventricular assist devices are underutilized in adults with congenital heart disease due to their complex anatomic arrangements and physiology. Advanced imaging techniques that may increase the utilization of mechanical circulatory support in this population must be explored. Three-dimensional printing offers individualized structural models that would enable pre-surgical planning of cannula and device placement in adults with congenital cardiac disease and heart failure who are candidates for such therapies. We present a review of relevant cardiac anomalies, cases in which such models could be utilized, and some background on the cost and procedure associated with this process. PMID:27033018

  15. Ebstein's anomaly in neonates.

    PubMed

    Moura, C; Guimarães, H; Areias, J C; Moreira, J

    2001-09-01

    Ebstein's anomaly is a rare congenital heart disease abnormality in which the tricuspid valve leaflets do not attach normally to the tricuspid valve annulus. The effective tricuspid valve orifice is displaced apically into the right ventricle (RV), near the junction of the inlet and the trabecular parts of the RV. The authors present a retrospective study of the patients with Ebstein's anomaly admitted to a neonatal intensive care unit, in the period between January 1993 and March 2000. There were ten patients, representing 0.24% of total neonates and 1.99% of total congenital heart disease admitted to the institution in the same period. Fifty per cent were male and only one case had prenatal diagnosis. Holosystolic murmur (100%) from tricuspid regurgitation and cyanosis (80%) were the most frequent clinical findings. Chest X-ray was abnormal in 90% of the neonates, with a "balloon-shaped" enlarged heart. The main electrocardiographic findings were right atrial enlargement (70%) and arrhythmias (40%). Apical displacement of the septal leaflet of the tricuspid valve, to a maximum of 20 mm, and leaflets tethering to underlying RV myocardium were found in all patients. Tricuspid valve regurgitation was found in 90% (severe form in four cases). An atrial intracardiac shunt, mostly right-to-left, was also found in 50%. Digoxin was used (40%) to restore sinus rhythm. Fifty per cent of the neonates received intravenous prostaglandins. Two patients required a surgical procedure. Two patients died in the neonatal period. During the follow-up period (range 0.3-74.6 months), only one episode of supraventricular tachycardia was recorded. At present seven patients are clinically stable, three of them on medication.

  16. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies.

    PubMed

    Ulusoy, Hasan

    2012-05-01

    Fibrodysplasia ossificans progressiva (FOP) is a rare but extremely disabling genetic disease of the skeletal system. This disease is characterized by progression of heterotopic ossification within skeletal muscles, ligaments and tendons. Most patients with FOP are misdiagnosed early in life before the appearance of heterotopic ossification and undergo diagnostic procedures such as biopsy that can cause lifelong disability. Almost all of the patients have some peculiar congenital anomalies, including short great toes, hallux valgus, short thumbs and hypoplasia of digital phalanges. These congenital defects support the diagnosis of FOP, but are not constantly observed in the totality of patients. If necessary, genetic studies can be performed to confirm the diagnosis. Once diagnosed, patients should be advised in order to avoid unnecessary traumas, surgical procedures, biopsies, intramuscular injections and vaccinations. Here, we describe a patient with FOP without characteristic congenital skeletal anomalies.

  17. 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

  18. 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.

  19. Pulmonary vascular development goes awry in congenital lung abnormalities.

    PubMed

    Kool, Heleen; Mous, Daphne; Tibboel, Dick; de Klein, Annelies; Rottier, Robbert J

    2014-12-01

    Pulmonary vascular diseases of the newborn comprise a wide range of pathological conditions with developmental abnormalities in the pulmonary vasculature. Clinically, pulmonary arterial hypertension (PH) is characterized by persistent increased resistance of the vasculature and abnormal vascular response. The classification of PH is primarily based on clinical parameters instead of morphology and distinguishes five groups of PH. Congenital lung anomalies, such as alveolar capillary dysplasia (ACD) and PH associated with congenital diaphragmatic hernia (CDH), but also bronchopulmonary dysplasia (BPD), are classified in group three. Clearly, tight and correct regulation of pulmonary vascular development is crucial for normal lung development. Human and animal model systems have increased our knowledge and make it possible to identify and characterize affected pathways and study pivotal genes. Understanding of the normal development of the pulmonary vasculature will give new insights in the origin of the spectrum of rare diseases, such as CDH, ACD, and BPD, which render a significant clinical problem in neonatal intensive care units around the world. In this review, we describe normal pulmonary vascular development, and focus on four diseases of the newborn in which abnormal pulmonary vascular development play a critical role in morbidity and mortality. In the future perspective, we indicate the lines of research that seem to be very promising for elucidating the molecular pathways involved in the origin of congenital pulmonary vascular disease. PMID:25424472

  20. Fetal echocardiographic screening of diabetic pregnancies for congenital heart disease.

    PubMed

    Gladman, G; McCrindle, B W; Boutin, C; Smallhorn, J F

    1997-02-01

    This study sought to assess pregnant diabetic women for the presence of fetal cardiac anomalies and to determine whether better diabetic control was associated with a reduced risk to the fetus. Between 1988 and 1995, pregnant type I and II diabetic women routinely underwent fetal echocardiography. Hemoglobin A1c values were used as an indicator of maternal diabetic control and any relation between congenital heart disease in the fetus and maternal hemoglobin A1c levels was sought. Cardiac defects were identified in 7 of 328 pregnancies assessed, for an incidence of congenital heart disease of 2.1% (95% confidence interval: 0.6-3.6%). A review of the postnatal cardiac database did not reveal any undetected major malformations. The mean hemoglobin A1c level was 7.6% +/- 2.0% obtained at a mean gestational age of 12 +/- 7 weeks. Hemoglobin A1c levels of mothers carrying a fetus with congenital heart disease did not significantly differ from those with a normal fetus: 8.1% +/- 3.4% versus 7.6% +/- 1.9% (p = 0.48). Mothers with an affected fetus demonstrated a wide range of HbA1c levels (4.1 to 13.7%). Thus, the incidence of significant fetal cardiac abnormalities is low and not significantly related to maternal diabetic control. PMID:9259899

  1. 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)…

  2. 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.

  3. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  4. Embolization of a congenital arteriovenous fistula of the internal maxillary artery: A case report and review of the literature.

    PubMed

    Santillan, Alejandro; Johnson, Jeremiah; Birnbaum, Lee A

    2016-06-01

    A 13 year-old girl with a congenital carotid-jugular fistula presented with a pulsatile mass and a thrill on the left side of her neck. Angiography showed a fistula between the left internal maxillary artery and the jugular vein. The patient underwent coil embolization using a transarterial balloon-assisted technique and one week later, a transvenous approach. The fistula was completely obliterated, and the patient's symptoms resolved. PMID:26842609

  5. Congenital sternal foramen in a stillborn Holstein calf.

    PubMed

    Azizi, Shahrzad; Bakhtiary, Mohsen Khosravi; Goodarzi, Mehdi

    2012-01-01

    Congenital sternal foramen is an anomaly whose occurrence is rare in human but is especially unusual in animals. This defect was formed when fusion of multiple ossification centers was incomplete. It may be associated with other lesions in body organs especially cardiac anomalies. In the present study, we report a very rare case of congenital sternal foramen in a Holstein calf. The oval defect was like a gunshot wound and located at the lower third of the sternum. Apparently, the rest of skeleton system seems normal. The awareness of the anomaly is important for better diagnosis and treatment of diseases.

  6. PHACE syndrome associated with congenital oculomotor nerve palsy.

    PubMed

    Murthy, Ramesh; Naik, Milind N; Desai, Savari; Honavar, Santosh G

    2009-01-01

    PHACE syndrome is a multisystem disorder presenting with facial hemangiomas, arterial anomalies, cardiac anomalies, posterior fossa malformations and eye abnormalities. The eye abnormalities include microphthalmos, cataracts, optic atrophy and iris hypoplasia. Amongst the neurological anomalies, posterior fossa malformations are common. Fourth nerve palsy has been reported with PHACE syndrome. We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma.

  7. Congenital dislocation of hip in children: a review of patients treated in the Institute of Orthopaedics and Traumatology, General Hospital, Kuala Lumpur, 1975-1988.

    PubMed

    Chai, A L; Sivanantham, M

    1990-06-01

    A retrospective review of patients with congenital dislocation of the hip (CDH) seen in the Institute of Orthopaedics, Kuala Lumpur General Hospital from 1975 to 1988 is presented. There was a female predominance of 17 to five. The average follow-up was 43 months and the average age at final assessment was 63 months. The results were assessed clinically and radiographically using Severin criteria. Eighty eight percent of the hips had excellent or good clinical results at final review compared with 40% of the hips which had excellent or good radiological grading (Severin I and II). Initial acetabular angle before treatment and types of treatment appeared to have a correlation with the final result. The incidence of avascular necrosis was 16%.

  8. Congenital abnormalities of the posterior fossa.

    PubMed

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

    2015-01-01

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

  9. Congenital abnormalities of the posterior fossa.

    PubMed

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

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. PMID:25590398

  10. Complications of mandibular distraction osteogenesis for congenital deformities: a systematic review of the literature and proposal of a new classification for complications.

    PubMed

    Verlinden, C R A; van de Vijfeijken, S E C M; Jansma, E P; Becking, A G; Swennen, G R J

    2015-01-01

    A systematic review of English and non-English language articles on the complications of mandibular distraction osteogenesis (MDO) for patients with congenital deformities was performed, in accordance with the PRISMA statement. Search terms expressing distraction osteogenesis were used in 'AND' combination with search terms comprising 'mandible' and terms for complication, failure, and morbidity. A search using PubMed (National Library of Medicine, NCBI), EMBASE, and the Cochrane Central Register of Controlled Trials yielded 644 articles published between 1966 and mid October 2013. Clinical articles that reported complications related to MDO were included. Finally 81 articles on MDO in congenital deformities were eligible and were screened in detail. Complications including minor infection (6.0%), device-related problems (7.3%), skeletal open bite (2.4%), hypertrophic scar formation (2.1%), facial nerve palsy (1.8%), neurosensory disturbances of the inferior alveolar nerve (1.9%), and (fibrous) non-union (0.7%) were seen. A new index for more detailed classification of complications in MDO is proposed based on six categories that indicate the impact of the complication and its further treatment or final results. The proposed complication index may be a useful tool to classify complications related to MDO.

  11. Congenital hypoaldosteronism.

    PubMed

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  12. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

    PubMed

    Paththinige, C S; Sirisena, N D; Kariyawasam, U G I U; Saman Kumara, L P C; Dissanayake, V H W

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4.

  13. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

    PubMed Central

    Saman Kumara, L. P. C.

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4.

  14. 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

  15. 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

  16. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

    PubMed

    Akiyama, Masashi

    2010-10-01

    Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. To date, a total of 56 ABCA12 mutations have been reported in 66 ARCI families including 48 HI, 10 LI, and 8 CIE families of African, European, Pakistani/Indian, and Japanese origin (online database: http://www.derm-hokudai.jp/ABCA12/). A total of 62.5% of reported ABCA12 mutations are expected to lead to truncated proteins. Most mutations in HI are truncation mutations and homozygous or compound heterozygous truncation mutations always results in HI phenotype. In CIE families, at least one mutation on each allele is typically a missense mutation. Combinations of missense mutations in the first ATP-binding cassette of ABCA12 underlie the LI phenotype. ABCA12 is a keratinocyte lipid transporter associated with lipid transport in lamellar granules, and loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in an ichthyotic phenotype. Recent work using mouse models confirmed ABCA12 roles in skin barrier formation.

  17. 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

  18. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

    PubMed

    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

    2009-08-01

    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 genomic 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.

  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. Perinatal Management of Major Congenital Heart Disease

    PubMed Central

    McGovern, Eiméar; Sands, Andrew J

    2014-01-01

    Congenital heart disease (CHD) is the most common form of congenital anomaly. Prenatal diagnosis of CHD has been associated with decreased morbidity and mortality for some forms of major CHD. As most cases of major CHD are not identified prenatally, clinical examination of the newborn and pulse oximetry are also important means of identifying more cases. Clinicians must suspect CHD as a diagnosis in a cyanosed or shocked neonate and be familiar with appropriate management, namely the commencement of prostaglandin if a duct dependent cardiac lesion is suspected. Telemedicine can aid prompt diagnosis of CHD and therefore direct appropriate management. PMID:25484461

  1. Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

    PubMed Central

    Chung, Ill-Min; Rajakumar, Govindasamy

    2016-01-01

    Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation. Research over the past two decades has established firmly the role of genetics in the development of these congenital defects. While syndromic CHDs are more straightforward, non-syndromic CHDs are usually characterized by multiple mutations that affect intricate inter-connected developmental pathways. Knock-out and gene expression studies in mice and other genetic models have been performed to elucidate the roles of these implicated genes. Functional analysis has not been able to resolve the complete picture, as increasingly more downstream effects are continuously being assigned to CHD mutant factors. NKX2-5, a cardiac transcription factor, has received much attention for its role in cardiac dysmorphogenesis. Approximately 50 different mutations in this gene have been identified to date, and only a few have been functionally characterized. The mutant NKX2-5 factor can regulate a number of off-targets downstream to facilitate CHD development. This review summarizes the genetic etiology of congenital heart defects and emphasizes the need for NKX2-5 mutation screening. PMID:26805889

  2. [Mosaic isochromosome Xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract].

    PubMed

    Rojas Martínez, Jorge A; Acosta Guio, Johanna C

    2015-01-01

    The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.

  3. Neonatal congenital microvillus atrophy

    PubMed Central

    Pecache, N; Patole, S; Hagan, R; Hill, D; Charles, A; Papadimitriou, J

    2004-01-01

    Congenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6–8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to be poor. Therapeutic agents like somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five year survival after small bowel transplantation is currently ∼50%. The following brief review is aimed towards helping neonatologists/perinatologists in the early diagnosis, and management of CMVA and in counselling the parents appropriately. PMID:14970294

  4. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society.

  5. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

    PubMed Central

    Saman Kumara, L. P. C.

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  6. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

    PubMed

    Paththinige, C S; Sirisena, N D; Kariyawasam, U G I U; Saman Kumara, L P C; Dissanayake, V H W

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  7. Portal hypertension induced by congenital hepatic arterioportal fistula: Report of four clinical cases and review of the literature

    PubMed Central

    Zhang, Dan-Ying; Weng, Shu-Qiang; Dong, Ling; Shen, Xi-Zhong; Qu, Xu-Dong

    2015-01-01

    Intrahepatic arterioportal fistula (IAPF) can be caused by many secondary factors. We report four cases of portal hypertension that were eventually determined to be caused by congenital hepatic arterioportal fistula. The clinical manifestations included ascites, variceal hemorrhage and hepatic encephalopathy. Computed tomography scans from all of the patients revealed the early enhancement of the portal branches in the hepatic arterial phase. All patients were diagnosed using digital subtraction angiography (DSA). DSA before embolization revealed an arteriovenous fistula with immediate filling of the portal venous radicles. All four patients were treated with interventional embolization. The four patients remained in good condition throughout follow-up and at the time of publication. IAPF is frequently misdiagnosed due to its rarity; therefore, clinicians should consider IAPF as a potential cause of non-cirrhotic portal hypertension. PMID:25717263

  8. Performance of Polymerase Chain Reaction Analysis of the Amniotic Fluid of Pregnant Women for Diagnosis of Congenital Toxoplasmosis: A Systematic Review and Meta-Analysis

    PubMed Central

    2016-01-01

    Introduction Congenital infection caused by Toxoplasma gondii can cause serious damage that can be diagnosed in utero or at birth, although most infants are asymptomatic at birth. Prenatal diagnosis of congenital toxoplasmosis considerably improves the prognosis and outcome for infected infants. For this reason, an assay for the quick, sensitive, and safe diagnosis of fetal toxoplasmosis is desirable. Goal To systematically review the performance of polymerase chain reaction (PCR) analysis of the amniotic fluid of pregnant women with recent serological toxoplasmosis diagnoses for the diagnosis of fetal toxoplasmosis. Method A systematic literature review was conducted via a search of electronic databases; the literature included primary studies of the diagnostic accuracy of PCR analysis of amniotic fluid from pregnant women who seroconverted during pregnancy. The PCR test was compared to a gold standard for diagnosis. Results A total of 1.269 summaries were obtained from the electronic database and reviewed, and 20 studies, comprising 4.171 samples, met the established inclusion criteria and were included in the review. The following results were obtained: studies about PCR assays for fetal toxoplasmosis are generally susceptible to bias; reports of the tests’ use lack critical information; the protocols varied among studies; the heterogeneity among studies was concentrated in the tests’ sensitivity; there was evidence that the sensitivity of the tests increases with time, as represented by the trimester; and there was more heterogeneity among studies in which there was more time between maternal diagnosis and fetal testing. The sensitivity of the method, if performed up to five weeks after maternal diagnosis, was 87% and specificity was 99%. Conclusion The global sensitivity heterogeneity of the PCR test in this review was 66.5% (I2). The tests show low evidence of heterogeneity with a sensitivity of 87% and specificity of 99% when performed up to five weeks

  9. CT and MRI of congenital nasal lesions in syndromic conditions.

    PubMed

    Ginat, Daniel T; Robson, Caroline D

    2015-07-01

    Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article. PMID:25573243

  10. Is there a relationship between surgical case volume and mortality in congenital heart disease services? A rapid evidence review

    PubMed Central

    Preston, L; Turner, J; Booth, A; O'Keeffe, C; Campbell, F; Jesurasa, A; Cooper, K; Goyder, E

    2015-01-01

    Objective To identify and synthesise the evidence on the relationship between surgical volume and patient outcomes for adults and children with congenital heart disease. Design Evidence synthesis of interventional and observational studies. Data sources MEDLINE, EMBASE, CINAHL, Cochrane Library and Web of Science (2009–2014) and citation searching, reference lists and recommendations from stakeholders (2003–2014) were used to identify evidence. Study selection Quantitative observational and interventional studies with information on volume of surgical procedures and patient outcomes were included. Results 31 of the 34 papers identified (91.2%) included only paediatric patients. 25 (73.5%) investigated the relationship between volume and mortality, 7 (20.6%) mortality and other outcomes and 2 (5.9%) non-mortality outcomes only. 88.2% were from the US, 97% were multicentre studies and all were retrospective observational studies. 20 studies (58.8%) included all congenital heart disease conditions and 14 (41.2%) single conditions or procedures. No UK studies were identified. Most studies showed a relationship between volume and outcome but this relationship was not consistent. The relationship was stronger for single complex conditions or procedures. We found limited evidence about the impact of volume on non-mortality outcomes. A mixed picture emerged revealing a range of factors, in addition to volume, that influence outcome including condition severity, individual centre and surgeon effects and clinical advances over time. Conclusions The heterogeneity of findings from observational studies suggests that, while a relationship between volume and outcome exists, this is unlikely to be a simple, independent and directly causal relationship. The effect of volume on outcome relative to the effect of other, as yet undetermined, health system factors remains a complex and unresolved research question. PMID:26685029

  11. Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

    PubMed

    Esplin, Edward D; Li, Ben; Slavotinek, Anne; Novelli, Antonio; Battaglia, Agatino; Clark, Robin; Curry, Cynthia; Hudgins, Louanne

    2014-08-01

    Comparative genomic hybridization (CGH) arrays have significantly changed the approach to identifying genetic alterations causing intellectual disability and congenital anomalies. Several studies have described the microduplication of Xp22.31, involving the STS gene. In such reports characteristic features and pathogenicity of Xp22.31 duplications remains a subject of debate. Here we present a series of nine previously unreported individuals with Xp22.31 duplications, found through microarray analysis in the course of genetic workup for developmental delay, associated with a combination of talipes anomalies, seizures and/or feeding difficulties. The size of the Xp22.31 duplications ranged from 294 kb to 1.6 Mb. We show a comparison of the breakpoints, inheritance and clinical phenotype, and a review of the literature. This clinically detailed series of Xp22.31 duplication patients provides evidence that the Xp22.31 duplication contributes to a common phenotype.

  12. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  13. Preventing congenital neonatal heart block in offspring of mothers with anti-SSA/Ro and SSB/La antibodies: a review of published literature and registered clinical trials.

    PubMed

    Gleicher, Norbert; Elkayam, Uri

    2013-09-01

    Offspring of women with anti-SSA/Ro-SSB/La antibodies are believed to be at risk for congenital heart block (CHB). Whether this risk can be reduced, and what constitutes standard of care treatment is, however, unclear. The objective of this review therefore was to determine whether currently proposed standard of care treatments to avoid CHB in offspring of mothers at risk are evidence-based. To do so, we conducted a review of the literature under appropriate keywords and phrases in Medline/PubMed and Google Scholar for the years 2000-2013. Reference lists were further reviewed, and relevant manuscripts were pulled. We also reviewed www.clinicaltrials.gov for registered studies. In the absence of randomized prospective clinical trials, a meta-analysis was not feasible. We, therefore, reviewed lower evidence level studies individually. Risk of CHB actually appears more closely associated with general autoimmunity than, specifically, with SSA/Ro-SSB/La antibodies. This and other observations raise questions whether CHB is caused by passively transferred maternal autoimmunity, as is currently widely believed. Observational studies suggest the possible effectiveness of intravenous gamma globulin (IV-Ig) and hydroxychloroquine (Plaquenil) in reducing CHB-risk. Evidence for both is, however, inconclusive, and studies are biased in favor of hydroxychloroquine and against IV-Ig. Based on the review of the literature, current evidence of effectiveness for any treatment has to be judged as insufficient. Among the available treatment options, some considerations favor IV-Ig over hydroxychloroquine or, alternatively, suggest treatment with IV-Ig periconceptionally and into early gestation, with hydroxychloroquine added or replacing IV-Ig at approximately 10weeks gestational age. Benefits for the utilization of steroid drugs are unclear. Since no treatment can be considered as established, prevention of CHB in offspring should be considered experimental, and performed under

  14. 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

  15. 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.

  16. Congenital dislocation of the knee.

    PubMed

    Ko, J Y; Shih, C H; Wenger, D R

    1999-01-01

    Between February 1988 and June 1995, 24 congenital dislocations of the knee joints (17 patients) were reduced with closed methods including immediate reduction, serial casting, or traction in patients from 10 min to 26 days old. At an average follow-up of 4 years and 10 months, an excellent or good result was achieved if there were no associated anomalies. Fair or poor results were the result of delayed treatment or associated musculoskeletal anomalies including arthrogryposis multiplex congenita or Larsen's syndrome. Routine check of the hip dislocation is suggested. Diagnosis with manual testing was difficult, and other methods such as radiography or sonography were suggested in combination to detect hip dysplasia. The dislocated knee should be reduced before treating the hip dislocation. Concomitant treatment of the congenital dislocation of the knee and the hip with Pavlik harness provided satisfactory results. When late, progressive, genu valgus deformity occurred because of global instability of the knee and asymmetric physeal growth, reconstruction of the medial structures of the knee and prolonged bracing provided good results. PMID:10088699

  17. Intramedullary neurenteric cyst of the conus medullaris without associated spinal malformation: a case report and review of the literature.

    PubMed

    Sadeghi-Hariri, Behrouz; Khalatbari, Mahmoud Reza; Hassani, Hajar; Taheri, Behrouz; Abbassioun, Kazem

    2012-01-01

    Spinal neurenteric (NE) cysts are rare congenital anomalies that may occur either alone or in the context of a complex malformative disorder. They are usually intradural-extramedullary lesions. Intramedullary NE cysts not associated with other congenital anomalies are very rare and only a few cases have been reported in the conus medullaris region. Intramedullary neurenteric cysts not associated with other spinal anomalies are very rare especially in the conus medullaris region. MRI is useful to define the cyst and the osseous anomalies associated with this lesion. The goal of treatment of an intramedullary neurenteric cyst is total excision at the first operation, if possible. Life-long follow-up with annual MRI is recommended due to the risk of cyst recurrence. We report an intramedullary NE cyst of the conus medullaris without associated malformation and the relevant literature is briefly reviewed.

  18. 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

  19. 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

  20. Associated dental anomalies in an Etruscan adolescent.

    PubMed

    Baccetti, T; Franchi, L; Cecchi, J M; Pacciani, E

    1995-01-01

    Three fragments of the upper jaw of an Etruscan adolescent of the 6th century B.C. discovered at the necropolis of Cancellone 1 (Magliano in Tuscany, Grosseto, Italy) were examined. A triad of associated dental anomalies was found: congenitally missing second premolars, "peg-shaped" permanent lateral incisors, and ectopic (palatal) eruption of a permanent canine. These findings provided the opportunity to discuss etiopathogenetic aspects of the associations among different types of tooth abnormalities. PMID:7726465

  1. A case of split notochord syndrome with congenital ileal atresia, the total absence of a colon, and a dorsal enteric cyst communicating to the retroperitoneal isolated ceca with a vesical fistula.

    PubMed

    Asagiri, Kimio; Yagi, Minoru; Tanaka, Yoshiaki; Akaiwa, Masao; Asakawa, Takahiro; Kaida, Akiko; Kobayashi, Hidefumi; Tanaka, Hiroaki

    2008-09-01

    Split notochord syndrome (SNS) is an extremely rare anomaly. This report presents the case of a male infant with SNS associated with congenital ileal atresia and a dorsal enteric cyst communicating to the retroperitoneal isolated ceca with a vesical fistula. Dorsal fistulography and vesicography were useful and essential for the detailed study of the topology in this patient. The embryological mechanism and etiologic theories are discussed with a review of 19 cases reported in the literature.

  2. Optimum treatment of congenital cytomegalovirus infection.

    PubMed

    Leruez-Ville, Marianne; Ville, Yves

    2016-01-01

    Congenital cytomegalovirus infection affects 0.7% of live births and is the leading cause of congenital neurological handicaps of infectious origin. However, systematic screening of this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox has been justified by the unavailability of an efficient vaccine and by the scarcity of data available on the treatment of congenital CMV. However, in the last decade interesting new data on the management of this congenital infection has emerged including new results on both neonatal and postnatal treatments. This review provides an update on the potential benefits of antiviral treatment and on passive immunisation both in the neonatal and the antenatal periods. These suggest a benefit to a proactive approach for neonatal and prenatal congenital infections. PMID:27043943

  3. 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

  4. Exposure to fluconazole and risk of congenital malformations in the offspring: A systematic review and meta-analysis.

    PubMed

    Alsaad, Abdulaziz M S; Kaplan, Yusuf C; Koren, Gideon

    2015-04-01

    Vulvovaginal candidiasis (VVC) affects up to 75% of women at least once during their lifetime, mostly during the reproductive age, and recurrence rate is about 50%. Because half of all pregnancies are unplanned and pregnant women have an increased risk of VVC recurrence, the likelihood of inadvertently being exposed to fluconazole in pregnancy is increased. Thus, we aimed to examine the risk of congenital malformations in the offspring of women exposed to fluconazole in the first trimester of pregnancy. The rate for overall malformations was 1.10 (95% CI 0.98-1.25), for heart defect was 1.29 (95% CI 1.05-1.58), for craniofacial defects was 1.25 (95% CI 0.88-1.77), and for limb/musculoskeletal defects was 0.82 (95% CI 0.59-1.13). In conclusion, the use of fluconazole in the first trimester does not appear to increase the overall risk for congennital malformations. More studies are needed to address the potential increased rate of heart defects.

  5. Congenitally absent lumbar pedicle: a reappraisal

    SciTech Connect

    Wortzman, G.; Steinhardt, M.I.

    1984-09-01

    Three patients who had a diagnosis of congenitally absent lumbar pedicle underwent CT examination. Findings showed that each patient had an aberrant hypoplastic pedicle plus a retroisthmic defect in their ipsilateral lamina rather than an absent pedicle. Axial CT was the diagnostic modality of choice; reformated images were of little value. The differential diagnosis to be considered from the findings of plain film radiography includes pediculate thinning, neoplastic disease, neurofibroma, mesodermal dysplasia associated with neurofibromatosis, and vascular anomalies.

  6. The Medieval Climate Anomaly and Byzantium: A review of the evidence on climatic fluctuations, economic performance and societal change

    NASA Astrophysics Data System (ADS)

    Xoplaki, Elena; Fleitmann, Dominik; Luterbacher, Juerg; Wagner, Sebastian; Haldon, John F.; Zorita, Eduardo; Telelis, Ioannis; Toreti, Andrea; Izdebski, Adam

    2016-03-01

    At the beginning of the Medieval Climate Anomaly, in the ninth and tenth century, the medieval eastern Roman empire, more usually known as Byzantium, was recovering from its early medieval crisis and experiencing favourable climatic conditions for the agricultural and demographic growth. Although in the Balkans and Anatolia such favourable climate conditions were prevalent during the eleventh century, parts of the imperial territories were facing significant challenges as a result of external political/military pressure. The apogee of medieval Byzantine socio-economic development, around AD 1150, coincides with a period of adverse climatic conditions for its economy, so it becomes obvious that the winter dryness and high climate variability at this time did not hinder Byzantine society and economy from achieving that level of expansion. Soon after this peak, towards the end of the twelfth century, the populations of the Byzantine world were experiencing unusual climatic conditions with marked dryness and cooler phases. The weakened Byzantine socio-political system must have contributed to the events leading to the fall of Constantinople in AD 1204 and the sack of the city. The final collapse of the Byzantine political control over western Anatolia took place half century later, thus contemporaneous with the strong cooling effect after a tropical volcanic eruption in AD 1257. We suggest that, regardless of a range of other influential factors, climate change was also an important contributing factor to the socio-economic changes that took place in Byzantium during the Medieval Climate Anomaly. Crucially, therefore, while the relatively sophisticated and complex Byzantine society was certainly influenced by climatic conditions, and while it nevertheless displayed a significant degree of resilience, external pressures as well as tensions within the Byzantine society more broadly contributed to an increasing vulnerability in respect of climate impacts. Our

  7. The Medieval Climate Anomaly and Byzantium: A review of the evidence on climatic fluctuations, economic performance and societal change

    NASA Astrophysics Data System (ADS)

    Xoplaki, Elena; Fleitmann, Dominik; Luterbacher, Juerg; Wagner, Sebastian; Haldon, John F.; Zorita, Eduardo; Telelis, Ioannis; Toreti, Andrea; Izdebski, Adam

    2016-04-01

    At the beginning of the Medieval Climate Anomaly, in the ninth and tenth century, the medieval eastern Roman empire, more usually known as Byzantium, was recovering from its early medieval crisis and experiencing favourable climatic conditions for the agricultural and demographic growth. Although in the Balkans and Anatolia such favourable climate conditions were prevalent during the eleventh century, parts of the imperial territories were facing significant challenges as a result of external political/military pressure. The apogee of medieval Byzantine socio-economic development, around AD 1150, coincides with a period of adverse climatic conditions for its economy, so it becomes obvious that the winter dryness and high climate variability at this time did not hinder Byzantine society and economy from achieving that level of expansion. Soon after this peak, towards the end of the twelfth century, the populations of the Byzantine world were experiencing unusual climatic conditions with marked dryness and cooler phases. The weakened Byzantine socio-political system must have contributed to the events leading to the fall of Constantinople in AD 1204 and the sack of the city. The final collapse of the Byzantine political control over western Anatolia took place half century later, thus contemporaneous with the strong cooling effect after a tropical volcanic eruption in AD 1257. We suggest that, regardless of a range of other influential factors, climate change was also an important contributing factor to the socio-economic changes that took place in Byzantium during the Medieval Climate Anomaly. Crucially, therefore, while the relatively sophisticated and complex Byzantine society was certainly influenced by climatic conditions, and while it nevertheless displayed a significant degree of resilience, external pressures as well as tensions within the Byzantine society more broadly contributed to an increasing vulnerability in respect of climate impacts. Our

  8. 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.

  9. Solitary Type of Congenital Self-healing Reticulohistiocytosis

    PubMed Central

    Dorjsuren, Gantsetseg; Kim, Hee Jung; Jung, Jin Young; Bae, Byung Gi

    2011-01-01

    Congenital self-healing reticulohistiocytosis is a rare, congenital, benign, self-healing variant of Langerhans cell histiocytosis. It usually appears as multiple papules or nodules; however, occurrence of the solitary type is very rare. We report on a case of solitary congenital self-healing reticulohistiocytosis in a 29-day-old girl who presented with a papule on her sole. Two months later, the lesion regressed with a slight scar. Based upon clinical and histologic findings, we made a diagnosis of solitary congenital self-healing reticulohistiocytosis. In this report, we summarized reported cases of solitary congenital self-healing retioculohistiocytosis in Korea with a review of the literature. PMID:22028569

  10. Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.

    PubMed

    Gomez-Ospina, Natalia; Bernstein, Jonathan A

    2016-04-01

    Pierre Robin sequence (PRS) is an important craniofacial anomaly that can be seen as an isolated finding or manifestation of multiple syndromes. 22q11.2 deletion and Stickler syndrome are cited as the two most common conditions associated with PRS, but their frequencies are debated. We performed a retrospective study of 66 patients with PRS and reviewed their genetic testing, diagnoses, and clinical findings. The case series is complemented by a comprehensive literature review of the nature and frequency of genetic diagnosis in PRS. In our cohort 65% of patients had associated anomalies; of these, a genetic diagnosis was established in 56%. Stickler syndrome was the most common diagnosis, comprising approximately 11% of all cases, followed by Treacher Collins syndrome (9%). The frequency of 22q11.2 deletion was 1.5%. Chromosome arrays, performed for 72% of idiopathic PRS with associated anomalies, revealed two cases of 18q22→qter deletion, a region not previously reported in association with PRS. A review of the cytogenetic anomalies identified in this population supports an association between the 4q33-qter, 17q24.3, 2q33.1, and 11q23 chromosomal loci and PRS. We found a low frequency of 22q11.2 deletion in PRS, suggesting it is less commonly implicated in this malformation. Our data also indicate a higher frequency of cytogenetic anomalies in PRS patients with associated anomalies, and a potential new link with the 18q22→qter locus. The present findings underscore the utility of chromosomal microarrays in cases of PRS with associated anomalies and suggest that delaying testing for apparently isolated cases should be considered.

  11. 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.

  12. Outcomes after corrective surgery for congenital dextro-transposition of the great arteries using the arterial switch technique: a protocol for a scoping systematic review

    PubMed Central

    Mbuagbaw, Lawrence; Forlemu-Kamwa, Doris; Chu, Angela; Thabane, Lehana; Dillenberg, Rejane

    2014-01-01

    Introduction Dextro-transposition of the great arteries (d-TGA) is a life-threatening congenital health defect that requires rapid surgery. The most widely used approach is the arterial switch operation (ASO) developed by Jatene in the 1970s. The first set of children who received this intervention are now adults. The objective of this scoping review of the literature was to document the short-term (less than 1 year), medium-term (1–20 years) and long-term (more than 20 years) outcomes in children who underwent the ASO. Our primary income is survival, but we will explore other secondary surgical, cardiovascular, reproductive and quality-of-life outcomes. Methods and analyses Using a systematic scoping review approach, we will conduct a systematic search of the published literature for experimental and observational studies published on children who received the ASO intervention for classic d-TGA. We will search MEDLINE, Excerpta Medica Database (EMBASE), Cumulative Index to Nursing and Allied Health Literature (CINAHL) and Literatura Latino Americana em Ciências da Saúde (LILACS) from 1973 (date of the first successful ASO) to February 2014. Identified articles will be screened in duplicate and full text for selected articles will be retrieved. Data extraction will be carried out in duplicate. Discrepancies will be resolved by consensus or by consulting a third author. Where possible, proportions will be pooled using the inverse variance method. Our findings will be reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and Meta-analysis Of Observational studies in Epidemiology (MOOSE) guidelines. Ethics and dissemination The results of this paper will be disseminated as peer-reviewed publications, at conferences and at clinical rounds. Our findings may answer important questions for surgeons who perform the ASO intervention and for clinicians who take care of patients after surgery and throughout their

  13. 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

  14. 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

  15. Genetics of Congenital Heart Disease: The Glass Half Empty

    PubMed Central

    Fahed, Akl C.; Gelb, Bruce D.; Seidman, J. G.; Seidman, Christine E.

    2013-01-01

    Congenital heart disease (CHD) is the most common congenital anomaly in newborn babies. Cardiac malformations have been produced in multiple experimental animal models, by perturbing selected molecules that function in the developmental pathways involved in myocyte specification, differentiation or cardiac morphogenesis. In contrast, the precise genetic, epigenetic or environmental basis for these perturbations in humans remains poorly understood. Over the past few decades, researchers have tried to bridge this knowledge gap through conventional genome-wide analyses of rare Mendelian CHD families and by sequencing candidate genes in CHD cohorts. While yielding few, usually highly penetrant, disease gene mutations, these discoveries provided three notable insights. First, human CHD mutations impact a heterogeneous set of molecules that orchestrate cardiac development. Second, CHD mutations often alter gene/protein dosage. Third, identical pathogenic CHD mutations cause a variety of distinct malformations, implying that higher order interactions account for particular CHD phenotypes. The advent of contemporary genomic technologies including SNP arrays, next-generation sequencing, and CNV platforms are accelerating the discovery of genetic causes of CHD. Importantly, these approaches enable study of sporadic cases, the most common presentation of CHD. Emerging results from ongoing genomic efforts have validated earlier observations learned from the monogenic CHD families. In this review, we explore how continued use of these technologies and integration of systems biology is expected to expand our understanding of the genetic architecture of CHD. PMID:23410880

  16. A first branchial cleft anomaly within the parotid gland.

    PubMed

    Koltai, P J; Winkelmann, P E

    1980-01-01

    Although the parotid glands are affected more frequently by cysts and congenital lesions than other salivary glands, the benign multigerminal cyst arising from a duplication anomaly of the first branchial cleft within the parotid gland is extremely rare. Forty-two cases of this unusual cause of parotid swelling have been reported in the literature. An example of a first branchial cleft anomaly appearing clinically as a parotid tumor is reported.

  17. Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

    PubMed Central

    Mehar, Virendra; Yadav, Dinesh; Kumar, Ravindra; Yadav, Summi; Singh, Kuldeep; Callewaert, Bert; Pathan, Shahnawaz; De Paepe, Anne; Coucke, Paul J.

    2014-01-01

    Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly. PMID:27625873

  18. Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.

    PubMed

    Mehar, Virendra; Yadav, Dinesh; Kumar, Ravindra; Yadav, Summi; Singh, Kuldeep; Callewaert, Bert; Pathan, Shahnawaz; De Paepe, Anne; Coucke, Paul J

    2014-09-01

    Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly. PMID:27625873

  19. Satellite GN and C Anomaly Trends

    NASA Technical Reports Server (NTRS)

    Robertson, Brent; Stoneking, Eric

    2003-01-01

    On-orbit anomaly records for satellites launched from 1990 through 2001 are reviewed to determine recent trends of un-manned space mission critical failures. Anomalies categorized by subsystems show that Guidance, Navigation and Control (GN&C) subsystems have a high number of anomalies that result in a mission critical failure when compared to other subsystems. A mission critical failure is defined as a premature loss of a satellite or loss of its ability to perform its primary mission during its design life. The majority of anomalies are shown to occur early in the mission, usually within one year from launch. GN&C anomalies are categorized by cause and equipment type involved. A statistical analysis of the data is presented for all anomalies compared with the GN&C anomalies for various mission types, orbits and time periods. Conclusions and recommendations are presented for improving mission success and reliability.

  20. 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

  1. Congenital isolation of the subclavian artery in adults.

    PubMed Central

    Guinn, G A; Weathers, S

    1997-01-01

    The congenital anomaly of isolation of the subclavian artery, on the left side, is associated with a right aortic arch. The subclavian artery loses its connection with the aorta and is connected to the left pulmonary artery via the ligamentum arteriosum. Subclavian steal syndrome accompanies this anomaly in a minority of patients. We report 2 cases of adults with subclavian artery isolation, one of whom was symptomatic, and we discuss the importance of recognizing its presence. Images PMID:9068141

  2. [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.

  3. Neighborhood Deprivation and Risk of Congenital Heart Defects, Neural Tube Defects and Orofacial Clefts: A Systematic Review and Meta-Analysis

    PubMed Central

    Deguen, Séverine; Kihal, Wahida; Jeanjean, Maxime; Padilla, Cindy; Zmirou-Navier, Denis

    2016-01-01

    Background We conducted this systematic review and meta-analysis to address the open question of a possible association between the socioeconomic level of the neighborhoods in which pregnant women live and the risk of Congenital Heart Defects (CHDs), Neural Tube Defects (NTDs) and OroFacial Clefts (OFCs). Methods We searched MEDLINE from its inception to December 20th, 2015 for case-control, cohort and ecological studies assessing the association between neighborhood socioeconomic level and the risk of CHDs, NTDs and the specific phenotypes Cleft Lip with or without Cleft Palate (CLP) and Cleft Palate (CP). Study-specific risk estimates were pooled according to random-effect and fixed-effect models. Results Out of 245 references, a total of seven case-control studies, two cohort studies and two ecological studies were assessed in the systematic review; all studies were enrolled in the meta-analysis with the exception of the two cohort studies. No significant association has been revealed between CHDs or NTDs and neighborhood deprivation index. For CLP phenotype subgroups, we found a significantly higher rate in deprived neighborhoods (Odds Ratios (OR) = 1.22, 95% CI: 1.10, 1.36) whereas this was not significant for CP phenotype subgroups (OR = 1.20, 95%CI: 0.89, 1.61). Conclusion In spite of the small number of epidemiological studies included in the present literature review, our findings suggest that neighborhood socioeconomic level where mothers live is associated only with an increased risk of CLP phenotype subgroups. This finding has methodological limitations that impede the formulation of firm conclusions, and further investigations should confirm this association. PMID:27783616

  4. 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

  5. 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

  6. [Congenital heart disease, heterotaxia and laterality].

    PubMed

    Icardo, José Manuel; García Rincón, Juan Manuel; Ros, María Angeles

    2002-09-01

    Congenital heart disease occurs in about 0,8% of all newborns. Many cardiac malformations occur among relatives and have a polymorphic presentation. The origin of most congenital heart disease is thought to be multifactorial, implying both anomalous expression of genes and the influence of epigenetic factors. However, in a small number of cases, the origin of congenital heart disease has been directly related to chromosomal anomalies or to defects in a single gene. Curiously, defects in a single gene can explain a polymorphic presentation if the anomalous gene controls a basic embryonic process that affects different organs in time and space. Some of these genes appear to control the establishment of laterality. The establishment of the left-right asymmetry starts at the Hensen node. Here, the initial embryonic symmetry is broken by cascades of gene activation that confer specific properties on the left and right sides of the embryo. Although there are variations between species, some basic patterns of gene expression (Nodal, Pitx2) appear to be maintained along the phylogenetic scale. Anomalous expression of these genes induces the heterotaxia syndrome, which usually courses with congenital heart disease. The development of heart malformations is illustrated with the mouse mutant iv/iv, which is a model for the heterotaxia syndrome and the associated congenital heart disease.

  7. 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

  8. 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

  9. Imaging diagnosis of congenital uterine malformation.

    PubMed

    Pui, Margaret H

    2004-10-01

    Congenital anomaly of the female reproductive system is associated with higher rate of infertility, spontaneous abortion, intrauterine growth retardation, premature birth and postpartum bleed. Because of the variable clinical pictures of obstruction of menstrual flow in adolescence to hypomenorrhea, vaginal discharge, dyspareunia, and fertility problems in adult life, early and accurate diagnosis is difficult. Complete uterine and vaginal septum can be easily confused with uterus didelphys. Management of these two müllerian duct anomalies is different. With improved treatment methods for complete relief of symptoms and prevention of further sequelae, comprehensive evaluation is important to identify the underlying problem and formulate appropriate therapeutic plan. The embryology, classification, and clinical presentation of uterine malformation, advantages and limitations of diagnostic methods including hysterosalpingogram, ultrasound, magnetic resonance imaging, laparoscopy, and hysteroscopy are discussed. The imaging features of different types of uterine anomalies are illustrated.

  10. Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia

    PubMed Central

    Jeanty, C; Nien, JK; Espinoza, J; Kusanovic, JP; Goncalves, LF; Qureshi, F; Jacques, S; Lee, W; Romero, R

    2007-01-01

    Objectives To determine whether or not the presence of pleural and/or pericardial effusion can be used prenatally as an ultrasonographic marker for the differential diagnosis between diaphragmatic eventration and diaphragmatic hernia. Methods We present two case reports of non-isolated diaphragmatic eventration associated with pleural and/or pericardial effusion. Additionally, we reviewed the literature for all cases of congenital diaphragmatic hernia (CDH) and diaphragmatic eventration that met the following criteria: (1) prenatal diagnosis of a diaphragmatic defect and (2) definitive diagnosis by autopsy or surgery. The frequencies of pleural effusion, pericardial effusion, and hydrops were compared between the two conditions using the Fisher’s exact test. A subanalysis was conducted of cases with isolated diaphragmatic defects (i.e. diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies). Results A higher proportion of fetuses with diaphragmatic eventration had associated pleural and pericardial effusions compared with fetuses with diaphragmatic hernia (58% (7/12) vs. 3.7% (14/382), respectively, P < 0.001). This observation remained true when only cases of diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies were compared (29% (2/7) with eventration vs. 2.2% (4/178) with CDH, P < 0.02). Conclusions The presence of pleural and/or pericardial effusion in patients with diaphragmatic defects should raise the possibility of a congenital diaphragmatic eventration. This information is clinically important for management and counseling because the prognosis and treatment for CDH and congenital diaphragmatic eventration are different. PMID:17366518

  11. Chiral anomalies and differential geometry

    SciTech Connect

    Zumino, B.

    1983-10-01

    Some properties of chiral anomalies are described from a geometric point of view. Topics include chiral anomalies and differential forms, transformation properties of the anomalies, identification and use of the anomalies, and normalization of the anomalies. 22 references. (WHK)

  12. 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

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

    PubMed Central

    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

  14. [Neurocognitive anomalies associated with the binge drinking pattern of alcohol consumption in adolescents and young people: a review].

    PubMed

    López-Caneda, Eduardo; Mota, Nayara; Crego, Alberto; Velasquez, Teresa; Corral, Montserrat; Rodríguez Holguín, Socorro; Cadaveira, Fernando

    2014-01-01

    Binge drinking (BD) is the most common problematic drinking pattern during adolescence and youth. At the same time, it is a period marked by profound structural and functional brain changes, which may be affected by heavy alcohol consumption. In recent years, a considerable number of studies that attempt to characterize the effects of BD on the brain has been published. However, to date there is not any critical review in Spanish language on neurostructural, neurophysiological and cognitive consequences that may result from the maintenance of a BD pattern of alcohol consumption during adolescence and youth. The purpose of this review is to critically summarize the main research results on the effects of BD on the brain. To this end, a literature search in databases Web of Knowledge, PubMed and PsycINFO for the period 2000-2013 was performed. In general, studies agree that BD is associated with 1) lower performance on tasks assessing cognitive processes such as attention, memory and executive functions, 2) structural changes (in white matter and gray matter) in different brain regions and 3) neurophysiological abnormalities (hyper/hypoactivation) linked to different cognitive processes. These results, although still need to be contrasted, warn about important consequences that could result from the persistence of BD on a young and still maturing brain. PMID:25578003

  15. Congenital hypotrichosis and partial anodontia in a crossbred beef calf

    PubMed Central

    Barlund, Christy S.; Clark, Edward G.; Leeb, Tosso; Drögemüller, Cord; Palmer, Colin W.

    2007-01-01

    Clinical examination, skin biopsies, skull radiographs, and DNA analysis of a 2-day-old Red Angus-Charolais-Simmental cross bull calf confirmed the diagnosis of congenital hypotrichosis and anodontia defect (HAD), also called anhidrotic ectodermal dysplasia, which is a rare anomaly caused by a deletion in the bovine EDA gene on the X chromosome. PMID:17616058

  16. 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)

  17. 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

  18. 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.

  19. Congenital lateral abdominal wall hernia.

    PubMed

    Montes-Tapia, Fernando; Cura-Esquivel, Idalia; Gutiérrez, Susana; Rodríguez-Balderrama, Isaías; de la O-Cavazos, Manuel

    2016-08-01

    Congenital abdominal wall defects that are located outside of the anterior wall are extremely rare and difficult to classify because there are no well accepted guidelines. There are two regions outside of the anterior wall: the flank or lateral wall; and the lumbar region. We report the case of a patient with an oval 3 cm-diameter hernia defect located above the anterior axillary line, which affects all layers of the muscular wall. An anorectal malformation consisting of a recto-vestibular fistula was also identified, and chest X-ray showed dextrocardia. The suggested treatment is repair of the defect before 1 year of age. Given that the anomalies described may accompany lateral abdominal wall hernia, it is important to diagnose and treat the associated defects.

  20. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

    PubMed

    Pavone, Piero; Praticò, Andrea D; Falsaperla, Raffaele; Ruggieri, Martino; Zollino, Marcella; Corsello, Giovanni; Neri, Giovanni

    2015-01-01

    Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported. PMID:26242548

  1. Indications for Computer-Aided Design and Manufacturing in Congenital Craniofacial Reconstruction.

    PubMed

    Fisher, Mark; Medina, Miguel; Bojovic, Branko; Ahn, Edward; Dorafshar, Amir H

    2016-09-01

    The complex three-dimensional relationships in congenital craniofacial reconstruction uniquely lend themselves to the ability to accurately plan and model the result provided by computer-aided design and manufacturing (CAD/CAM). The goal of this study was to illustrate indications where CAD/CAM would be helpful in the treatment of congenital craniofacial anomalies reconstruction and to discuss the application of this technology and its outcomes. A retrospective review was performed of all congenital craniofacial cases performed by the senior author between 2010 and 2014. Cases where CAD/CAM was used were identified, and illustrative cases to demonstrate the benefits of CAD/CAM were selected. Preoperative appearance, computerized plan, intraoperative course, and final outcome were analyzed. Preoperative planning enabled efficient execution of the operative plan with predictable results. Risk factors which made these patients good candidates for CAD/CAM were identified and compiled. Several indications, including multisuture and revisional craniosynostosis, facial bipartition, four-wall box osteotomy, reduction cranioplasty, and distraction osteogenesis could benefit most from this technology. We illustrate the use of CAD/CAM for these applications and describe the decision-making process both before and during surgery. We explore why we believe that CAD/CAM is indicated in these scenarios as well as the disadvantages and risks. PMID:27516839

  2. Indications for Computer-Aided Design and Manufacturing in Congenital Craniofacial Reconstruction.

    PubMed

    Fisher, Mark; Medina, Miguel; Bojovic, Branko; Ahn, Edward; Dorafshar, Amir H

    2016-09-01

    The complex three-dimensional relationships in congenital craniofacial reconstruction uniquely lend themselves to the ability to accurately plan and model the result provided by computer-aided design and manufacturing (CAD/CAM). The goal of this study was to illustrate indications where CAD/CAM would be helpful in the treatment of congenital craniofacial anomalies reconstruction and to discuss the application of this technology and its outcomes. A retrospective review was performed of all congenital craniofacial cases performed by the senior author between 2010 and 2014. Cases where CAD/CAM was used were identified, and illustrative cases to demonstrate the benefits of CAD/CAM were selected. Preoperative appearance, computerized plan, intraoperative course, and final outcome were analyzed. Preoperative planning enabled efficient execution of the operative plan with predictable results. Risk factors which made these patients good candidates for CAD/CAM were identified and compiled. Several indications, including multisuture and revisional craniosynostosis, facial bipartition, four-wall box osteotomy, reduction cranioplasty, and distraction osteogenesis could benefit most from this technology. We illustrate the use of CAD/CAM for these applications and describe the decision-making process both before and during surgery. We explore why we believe that CAD/CAM is indicated in these scenarios as well as the disadvantages and risks.

  3. 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.

  4. 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

  5. Gastric ulcer bleeding from a variant left gastric artery accompanied by congenital absence of the splenic artery successfully treated with coil embolization: a case report and review of the literature.

    PubMed

    Namikawa, Masashi; Kakizaki, Satoru; Takakusaki, Satoshi; Saito, Shuichi; Yata, Yutaka; Mori, Masatomo

    2011-12-01

    Endoscopic hemostasis is a useful treatment modality for gastric ulcer bleeding. However, it is sometimes difficult to achieve hemostasis in cases with arterial bleeding, especially those complicated with vascular abnormalities. We describe a case with gastric ulcer bleeding from a variant left gastric artery accompanied by congenital absence of the splenic artery. A 50-year-old female was admitted to our hospital with dizziness and tarry stools. Upper gastrointestinal endoscopy revealed bleeding from a gastric ulcer, and endoscopic hemostasis by endoscopic clipping was carried out. Computed tomography and abdominal angiography revealed the variant left gastric artery running below the gastric ulcer. In spite of endoscopic hemostasis and medication, re-bleeding from the gastric ulcer occurred. A transcatheter coil embolization for the variant left gastric artery was performed and successfully achieved hemostasis. This case was accompanied by congenital absence of the splenic artery, which is an extremely rare condition. We herein describe this rare case and review previously reported cases.

  6. Operative management and outcomes in children with congenital bleeding disorders: a retrospective review at a single haemophilia treatment centre.

    PubMed

    Watts, R G; Cook, R P

    2012-05-01

    Establishing haemostasis for surgical procedures in children with inherited bleeding disorders is challenging. Providers are often hesitant to undertake surgeries in children with bleeding disorders out of fear of bleeding complications. To review the preoperative management and haemorrhagic complications of children with inherited bleeding disorders at our institution, we conducted a retrospective electronic medical record review from 1999 to 2010. Primary focus was review of bleeding complications and factor replacement strategies. A total of 168 procedures were performed in 66 children. Fifteen procedures (8%) in four children were performed in the presence of high-titre factor inhibitors. Procedures included central venous catheter (CVL) placement or revision (41%), otolaryngology procedures (23%), dental (11%), non-synovectomy orthopaedic procedures (8%), synovectomy (5%), circumcision (5%) and miscellaneous (7%). All patients received preoperative factor replacement (100% in haemophilia patients) followed by various factor replacement regimens postoperatively. No deaths or life-threatening bleeding occurred with any procedure. Twelve of 168 procedures (7%) were complicated by bleeding. Tonsillectomy was the most common procedure complicated by haemorrhage 4 of 15 (26%) followed by nasal surgery (3/7 bleeds = 43%). The CVL surgeries were remarkably free of complications with only 1/69 (1.4%) with bleeding. Surgical procedures are safe in children with bleeding disorders with adequate planning and factor replacement. Bleeding remains a problem in a subset of patients and requires ongoing haematological involvement and oversight. Delayed bleeding following T&A was especially common and suggests a need for close follow-up and ongoing factor coverage for this group of patients.

  7. Congenital mesenteric hernia in neonates: Still a dilemma

    PubMed Central

    Mandhan, Parkash; Alshahwani, Noora; Al-Balushi, Zainab; Arain, Anwar

    2015-01-01

    Congenital transmesenteric hernia in neonates is a rare cause of intestinal obstruction with devastating outcomes and still remains a challenge to diagnose pre-operatively. Patients are often managed with emergency surgical exploration and may need bowel resection. We present 2 neonates with small bowel obstruction secondary to strangulated transmesenteric hernia through a congenital defect in the small bowel mesentery, which were managed successfully. We have also reviewed the literature about congenital transmesenteric hernia in neonates. PMID:26612129

  8. Coping with Congenital Hand Differences

    PubMed Central

    Franzblau, Lauren E.; Chung, Kevin C.; Carlozzi, Noelle; Chin, Autumn Y. T.; Nellans, Kate W.; Waljee, Jennifer F.

    2015-01-01

    Purpose Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children’s ability to cope with psychosocial effects of these conditions. We qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Methods Forty patients and their parents participated in semi-structured interviews examining stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. Results In this sample, 58% of children and 40% of parents reported stress related to congenital hand differences, attributed to functional deficits (61%), hand appearance (27%), social interactions (58%), and emotional reactions (46%). Among the 18 children who reported stress, 43% of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12%), self-acceptance (21%), avoidance (27%), seeking external support (30%), concealment (30%), educating others (9%), support programs (21%) and religion (24%). Conclusions Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem and self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress in order to direct resources toward strengthening coping strategies and support systems. Level of Evidence Level IV-Case series PMID:25502854

  9. Pregnancy and adult congenital heart disease.

    PubMed

    Karamermer, Yusuf; Roos-Hesselink, Jolien W

    2007-09-01

    Increasing numbers of women with complex congenital heart disease are reaching childbearing age. Pregnancy is a major issue in the management of adult congenital heart disease. Cardiac disease is one of the most common causes of maternal morbidity and mortality. Complications, such as growth retardation, preterm and premature birth and even fetal and neonatal mortality, are more frequent among children of women with congenital heart disease. The risk of complications is determined by the severity of the cardiac lesion, the presence of cyanosis, the maternal functional class and the use of anticoagulation. However, the pathophysiology of these complications is not completely understood and may be related to a diminished increase in cardiac output and/or endothelial dysfunction. The management of pregnant cardiac patients is based on limited clinical information. This article reviews pre-pregnancy counseling and management during pregnancy in patients with congenital heart disease.

  10. Congenital web of the common bile duct in association with cholelithiasis.

    PubMed

    Papaziogas, Basilios; Lazaridis, Charalampos; Pavlidis, Theodoros; Galanis, Ioannis; Paraskevas, George; Papaziogas, Thomas

    2002-01-01

    Congenital web formations are extremely rare anomalies of the extrahepatic biliary tree. The age at presentation and the clinical symptomatology of these anomalies depend on the grade of the biliary obstruction. We report a case of a common bile duct septum in association with cholelithiasis in a 30-year-old woman. The diagnosis was made on preoperative magnetic resonance cholangiopancreatography (MRCP) and confirmed with intraoperative cholangiography. Because all known causes of acquired web formation were excluded, a congenital origin of the web was assumed. The patient was treated with a hepaticoduodenostomy above the level of the septum. The embryological aspects of this rare anomaly are described.

  11. Immunosuppressive agents in the treatment of inhibitors in congenital haemophilia A and B--a systematic literature review.

    PubMed

    Laros-van Gorkom, Britta Antonia Petra; Falaise, Céline; Astermark, Jan

    2014-08-01

    The development of inhibitory antibodies to factor VIII (FVIII) or factor IX (FIX) in patients with haemophilia is a serious complication of treatment with coagulation factor concentrates. Antibodies develop in 10-15% of haemophilia A and in up to 5% of haemophilia B patients. Several strategies have been developed over the years to facilitate the eradication of inhibitors and reduce the cost. These include plasmapheresis and/or extracorporeal protein A absorption to remove the inhibitor from the plasma, and immunosuppression and/or immune modulation to suppress the production of inhibitory antibodies. Different immunosuppressive (IS) agents have been described with varying success. To evaluate the outcome of these agents, we performed a systematic literature review using the PubMed database. The total number of articles identified was 345; 299 papers were excluded leaving 46 papers to be included in the study. No randomised studies were identified, only case reports and case series. The most frequently used agents in the 46 case reports and cohort studies identified were cyclophosphamide and rituximab. All cases exposed to cyclophosphamide, rituximab and other IS agents had a complete success rate of 40-44%, 40-63% and 33-56%, respectively. However, the definition of success was not consistent among the studies. In conclusion, our review of the literature indicates that IS agents in combination with FVIII or FIX could be an option and may be cost-effective in many patients. The risk of adverse events seems to be relatively low. To fully explore the effect of IS agents, randomised studies are warranted.

  12. Unilateral congenital elongation of the cervical part of the internal carotid artery with kinking and looping: two case reports and review of the literature

    PubMed Central

    Ovchinnikov, Nikolai A; Rao, Ramesh T; Rao, Suresh R

    2007-01-01

    Unilateral and bilateral variation in the course and elongation of the cervical (extracranial) part of the internal carotid artery (ICA) leading to its tortuosity, kinking and coiling or looping is not a rare condition, which could be caused by both embryological and acquired factors. Patients with such variations may be asymptomatic in some cases; in others, they can develop cerebrovascular symptoms due to carotid stenosis affecting cerebral circulation. The risk of transient ischemic attacks in patients with carotid stenosis is high and its surgical correction is indicated for the prevention of ischemic stroke. Detection of developmental variations of the ICA and evaluation of its stenotic areas is very important for surgical interventions and involves specific diagnostic imaging techniques for vascular lesions including contrast arteriography, duplex ultrasonography and magnetic resonance angiography. Examination of obtained images in cases of unusual and complicated variations of vascular pattern of the ICA may lead to confusion in interpretation of data. Awareness about details and topographic anatomy of variations of the ICA may serve as a useful guide for both radiologists and vascular surgeons. It may help to prevent diagnostic errors, influence surgical tactics and interventional procedures and avoid complications during the head and neck surgery. Our present study was conducted with a purpose of updating data about developmental variations of the ICA. Dissections of the main neurovascular bundle of the head and neck were performed on a total 14 human adult cadavers (10 – Africans: 7 males & 3 females and 4 – East Indians: all males). Two cases of unilateral congenital elongation of the cervical part of the ICA with kinking and looping and carotid stenoses were found only in African males. Here we present their detailed case reports with review of the literature. PMID:17650347

  13. Using Seroprevalence and Immunisation Coverage Data to Estimate the Global Burden of Congenital Rubella Syndrome, 1996-2010: A Systematic Review

    PubMed Central

    Vynnycky, Emilia; Adams, Elisabeth J.; Cutts, Felicity T.; Reef, Susan E.; Navar, Ann Marie; Simons, Emily; Yoshida, Lay-Myint; Brown, David W. J.; Jackson, Charlotte; Strebel, Peter M.; Dabbagh, Alya J.

    2016-01-01

    Background The burden of Congenital Rubella Syndrome (CRS) is typically underestimated in routine surveillance. Updated estimates are needed following the recent WHO position paper on rubella and recent GAVI initiatives, funding rubella vaccination in eligible countries. Previous estimates considered the year 1996 and only 78 (developing) countries. Methods We reviewed the literature to identify rubella seroprevalence studies conducted before countries introduced rubella-containing vaccination (RCV). These data and the estimated vaccination coverage in the routine schedule and mass campaigns were incorporated in mathematical models to estimate the CRS incidence in 1996 and 2000–2010 for each country, region and globally. Results The estimated CRS decreased in the three regions (Americas, Europe and Eastern Mediterranean) which had introduced widespread RCV by 2010, reaching <2 per 100,000 live births (the Americas and Europe) and 25 (95% CI 4–61) per 100,000 live births (the Eastern Mediterranean). The estimated incidence in 2010 ranged from 90 (95% CI: 46–195) in the Western Pacific, excluding China, to 116 (95% CI: 56–235) and 121 (95% CI: 31–238) per 100,000 live births in Africa and SE Asia respectively. Highest numbers of cases were predicted in Africa (39,000, 95% CI: 18,000–80,000) and SE Asia (49,000, 95% CI: 11,000–97,000). In 2010, 105,000 (95% CI: 54,000–158,000) CRS cases were estimated globally, compared to 119,000 (95% CI: 72,000–169,000) in 1996. Conclusions Whilst falling dramatically in the Americas, Europe and the Eastern Mediterranean after vaccination, the estimated CRS incidence remains high elsewhere. Well-conducted seroprevalence studies can help to improve the reliability of these estimates and monitor the impact of rubella vaccination. PMID:26962867

  14. [Monitoring of pregnancies exposed to drugs in France: the experience of the registries of congenital malformations].

    PubMed

    Doray, Bérénice

    2014-01-01

    Registries of congenital malformations were implemented in many industrialized countries following the drama of thalidomide. In 2013, four French registries of congenital malformations in France provide the systematic epidemiological surveillance of birth defects. All are part of international networks of registries, especially European surveillance of congenital anomalies (EUROCAT). If the development of prevention actions including prenatal diagnosis has gradually led the registries to play a key role of assessment on the impact of public health policies, one of the major roles of registries of congenital malformations remains early detection of clusters of malformations secondary to teratogenic effects.

  15. Bilateral agenesis of the superior vena cava associated with congenital hydrothorax.

    PubMed

    Römer, S; Opgen-Rhein, B; Chaoui, R; Scheer, I; Czernik, C; Obladen, M

    2006-11-01

    Agenesis of the superior vena cava is a rare anomaly that is generally asymptomatic in the neonate. We report a male neonate with bilateral (total) agenesis of the superior vena cava with obstructed thoracic duct and subsequent congenital hydrothorax, anomalies that were detected by prenatal ultrasound at 25 weeks' gestation. The cardiac anomaly was confirmed by postnatal magnetic resonance angiography. The chylothorax disappeared with conservative therapy.

  16. 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.

  17. Congenital myopathies: an update.

    PubMed

    Nance, Jessica R; Dowling, James J; Gibbs, Elizabeth M; Bönnemann, Carsten G

    2012-04-01

    Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated. PMID:22392505

  18. 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 ...

  19. 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

  20. Synopsis of congenital cardiac disease among children attending University of Nigeria Teaching Hospital Ituku Ozalla, Enugu

    PubMed Central

    2013-01-01

    Background The objective of this study was to determine the pattern of congenital cardiac disease among children attending UNTH, Enugu, Nigeria. The nature of these abnormalities and the outcome were also considered. The exact etiology is unknown but genetic and environmental factors tend to be implicated. The difference in the pattern obtained worldwide and few studies in Nigeria could be due to genetic, environmental, socioeconomic, or ethnic origin. Methods A retrospective analysis of discharged cases in which a review of the cases of all children attending children outpatient clinics including cardiology clinic of the University of Nigeria Teaching Hospital (UNTH), Enugu over a five year period (January 2007-June 2012) was undertaken. All the children presenting with cardiac anomalies were included in the study and the cases were investigated using ECG, X-ray and echocardiography studies. Results A total of 31,795 children attended the children outpatient clinics of the hospital over the study period. Of these, seventy one (71) had cardiac diseases. The overall prevalence of cardiac disease is 0.22%. The commonest symptoms were breathlessness, failure to thrive and cyanosis. Almost all types of congenital detects were represented, the commonest being isolated ventricular septal detect (VSD), followed by tetralogy of Fallot. One of these cardiac anomalies presented with Downs’s syndrome and another with VACTERAL association. Conclusions The results of this study show that 0.22% per cent of children who attended UNTH in Enugu State had congenital cardiac abnormalities and the commonest forms seen were those with VSD. PMID:24252233