Mortality throughout early childhood for Michigan children born with congenital anomalies, 1992-1998.

PubMed

Berger, Katherine H; Zhu, Bao-Ping; Copeland, Glenn

2003-09-01

Congenital anomalies are a leading cause of infant deaths, accounting for almost a fifth of all infant deaths. Few studies have researched the survival experience of infants born with congenital anomalies past the infant stage. Using birth and death files routinely linked to the Michigan Birth Defects Registry, we identified all singleton infants during calendar years 1992 through 1998 with reportable congenital anomalies for our study. A comparative file of children born without congenital anomalies during the same time period was developed using linked birth and death files. The mortality data were assessed by age at death (through age six) and race to determine mortality rates, relative risks, hazard ratios, and survival trends. Throughout early childhood, children born with congenital anomalies had a high risk of mortality compared with all other children. The overall 7-year hazard ratio comparing children with congenital anomalies with all other children was 7.2. Overall mortality rates for black children were significantly higher than white children through the age of seven, irrespective of whether they had congenital anomalies. Among children with congenital anomalies, this disparity disappeared after adjusting for birth weight, sex, mother's age, mother's education, and number of organ systems affected. Compared with children without congenital anomalies, children born with congenital anomalies had a higher risk of mortality well beyond the infant period. Racial disparities in mortality rates among children with congenital anomalies were due to confounding factors.

Arsenic in drinking water and congenital heart anomalies in Hungary.

PubMed

Rudnai, Tamás; Sándor, János; Kádár, Mihály; Borsányi, Mátyás; Béres, Judit; Métneki, Júlia; Maráczi, Gabriella; Rudnai, Péter

2014-11-01

Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n=9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n=5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 μg/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 μg/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR=1.41; 95% C.I.: 1.28-1.56), and especially that of ductus Botalli persistens (adjusted OR=1.81, 95%C.I.: 1.54-2.11) and atrial septal defect (adjusted OR=1.79; 95%C.I.: 1.59-2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 μg/L during pregnancy. Further studies of possible similar effects of concentrations below 10 μg/L are warranted. Copyright © 2014 Elsevier GmbH. All rights reserved.

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

PubMed Central

Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

2013-01-01

Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

Prevalence of Congenital Anomalies in Infants with in Utero Exposure to Antiretrovirals

PubMed Central

KNAPP, KATHERINE M.; BROGLY, SUSAN B.; MUENZ, DANIEL G.; SPIEGEL, HANS M.; CONWAY, DANIEL H.; SCOTT, GWENDOLYN B.; TALBOT, JEFFREY T.; SHAPIRO, DAVID E.; READ, JENNIFER S.

2011-01-01

Background While use of efficacious interventions, including antiretrovirals (ARVs), has reduced dramatically the rate of mother-to-child transmission (MTCT) of HIV, the safety of in utero ARV exposure remains of concern. Methods Data regarding 1112 infants enrolled in the International Maternal Pediatric Adolescent AIDS Clinical Trials Group (IMPAACT) protocol P1025 born between 2002 and 2007 were analyzed for this study. Congenital anomalies were classified based on the Metropolitan Atlanta Congenital Defects Program (MACDP) guidelines. Associations between congenital anomalies and timing of first in utero exposure to ARVs were evaluated by logistic regression analysis. Results 61 of the 1112 infants had congenital anomalies identified and confirmed, resulting in a prevalence of 5.49/100 live births (95%CI: 4.22–6.99). Among the 80 anomalies identified, the organ systems involved included: cardiovascular (n=33), musculoskeletal (n=15), renal (n=9), genitourinary (n=6), craniofacial (n=4), and central nervous system (n=2). First trimester exposure to efavirenz was associated with a significantly increased risk of congenital anomalies (OR 2.84, 95%CI: 1.13–7.16). No significant associations were observed between exposure to other individual ARVs or classes of ARVs started at any time during pregnancy and infant congenital anomalies. Conclusions The observed rate of congenital anomalies in this cohort is higher than previously reported for the general population, but is consistent with rates observed in other recent studies of children born to HIV-infected women. Cardiovascular anomalies occurred most frequently. With the exception of a known teratogen (efavirenz), no statistically significant associations between in utero exposure to ARVs and congenital anomalies were identified. PMID:21983213

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

PubMed

Liu, S; Rouleau, J; León, J A; Sauve, R; Joseph, K S; Ray, J G

2015-07-01

To examine the impact of pre-pregnancy diabetes mellitus (DM) on the population birth prevalence of congenital anomalies in Canada. 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%). 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. 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.

Congenital anomalies in infants conceived by assisted reproductive techniques.

PubMed

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

2012-04-01

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

Hypospadias: Prevalence, birthweight and associated major congenital anomalies.

PubMed

Nissen, Karin Baekgaard; Udesen, Ann; Garne, Ester

2015-02-01

The aim of this study was to determine the prevalence of hypospadias over 24 years in a Danish population and to describe the relation to birthweight and associated major congenital anomalies. It is a population-based study of all cases (live births, fetal deaths and elective terminations of pregnancy) with hypospadias born in the period 1986-2009 in Funen County and reported to the EUROCAT registry of congenital anomalies. Cases were included only if surgery for hypospadias was performed. 223 cases of hypospadias were registered during the period 1986-2009 with an overall prevalence of 16.9 per 10 000 births. The prevalence was significantly higher in 2000-2009 compared to 1986-1999 (P < 0.001). We found a three times higher occurrence of VLBW (very low birthweight) infants among cases with hypospadias. Infants with isolated hypospadias were more likely to have mild hypospadias (68%) while cases with associated major congenital anomalies were less likely to have mild hypospadias (42%) (P < 0.05). Hypospadias was associated with VLBW and the severity of the defect was related to the presence of major congenital anomalies. The prevalence of hypospadias has increased during the study period. The relation to VLBW could indicate a causal relationship for hypospadias or a shared pathogenic factor. © 2014 Japanese Teratology Society.

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

PubMed

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

2013-09-01

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

The Prevalence of Congenital Hand and Upper Extremity Anomalies Based Upon the New York Congenital Malformations Registry.

PubMed

Goldfarb, Charles A; Shaw, Neil; Steffen, Jennifer A; Wall, Lindley B

2017-03-01

There have been few publications regarding the prevalence of congenital upper extremity anomalies and no recent reports from the United States. The purpose of this investigation was to examine the prevalence of congenital upper extremity anomalies in the total birth population of New York State over a 19-year period utilizing the New York Congenital Malformations Registry (NYCMR) database. The NYCMR includes children with at least 1 birth anomaly diagnosed by 2 years of age and listed by diagnosis code. We scrutinized these codes for specific upper extremity anomalies, including polydactyly, syndactyly, reduction defects, clubhand malformations, and syndromes with upper limb anomalies. We included children born between 1992 and 2010. There were a total of 4,883,072 live births in New York State during the study period. The overall prevalence of congenital upper extremity anomalies was 27.2 cases per 10,000 live births. Polydactyly was most common with 12,418 cases and a prevalence rate of 23.4 per 10,000 live births. The next most common anomalies included syndactyly with 627 cases affecting the hands (1498 total) and reduction defects (1111 cases). Specific syndromes were quite rare and were noted in a total of 215 live births. The prevalence of anomalies was higher in New York City compared with New York State populations at 33.0 and 21.9 per 10,000 live births, respectively. The NYCMR data demonstrate that congenital upper extremity anomalies are more common than previously reported. This is in large part due to the high prevalence of polydactyly. Although registries are imperfect, such data are helpful in monitoring prevalence rates over time, identifying potential causes or associations, and guiding health care planning and future research. Level I-diagnostic.

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

Postnatal outcome of congenital anomalies in low resource setting.

PubMed

Kumar, Manisha; Sharma, Sumedha; Bhagat, Manisha; Gupta, Usha; Anand, Rama; Puri, Archana; Singh, Anuradha; Singh, Abha

2013-10-01

This study aimed to determine the postnatal outcome of congenital malformations in a tertiary care hospital of India. This was a prospective study of all women with prenatally detected major congenital malformations. Postnatal follow-up of live born babies was carried out for 1 year. There were 574 cases with major congenital anomalies, 523 of which were fully followed. Only 69 women (13.6%) had the initial scan before 20 weeks of gestation. Craniospinal defects were the most common (42.7%), followed by genitourinary anomalies (28%). There was no live birth in cases such as anencephaly, iniencephaly, bilateral renal agenesis, gastroschisis, and cystic hygroma. Survival at 1 year was less than 25% in spina bifida, bilateral cystic kidneys, complex cardiac disease, and non-immune hydrops fetalis. In cases with mild hydrocephalus or unilateral and mild renal disease, the survival was over 75%. In India, the majority of congenital anomalies present late in gestation. Although fetal outcome is invariably poor for severe defects, existing legislation in the country leaves pregnancy continuation as the only option. © 2013 John Wiley & Sons, Ltd.

Traffic-related air pollution and congenital anomalies in Barcelona.

PubMed

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

2014-03-01

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

Congenital anomalies of the optic nerve

PubMed Central

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

2014-01-01

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

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). The medical and prosthetic aspects were dealt with in Part I of this paper. Part II describes, in a joint report, the results of psychiatric, psychological and educational assessments. There was no evidence of major emotional disorder in any of the patients, although conflicts were intensified by the presence of the physical anomaly. No relation was found between intelligence, emotional adjustment and disability. The patient's attitude towards his disability and prosthesis is definitely influenced by the degree of parental acceptance of the handicap and by the character of the emotional undertones in the total environment. In order to favour the occurrence of the healthiest modes of development in these children, the authors believe that the medical profession should be made fully aware of the physical and emotional problems which may arise after the birth of a deformed child. It is considered very important that the mother should receive psychotherapeutic support as soon as possible after the child is born. PMID:14174527

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

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

PubMed

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

2016-08-01

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

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

PubMed

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

2016-10-01

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

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

PubMed Central

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O’Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

2018-01-01

Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. Design, setting and outcome measures EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status. Results According to WHO, 17%–42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. Conclusions By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. PMID:28667189

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

PubMed

Bižić, Marta R; Cvetinović, Nataša; Majstorović, Marko J; Radojčić, Zoran; Vukadinović, Vojkan; Krstić, Zoran; Djordjević, Miroslav L

2012-01-01

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

Congenital intrahepatic portosystemic shunt--an incidental rare anomaly.

PubMed

Singh, Kunwarpal; Kapoor, Aprajita; Kapoor, Atul; Gupta, Kamini; Mahajan, Goldaa

2006-12-01

Congenital intrahepatic shunts are rare anomalies that are usually incidental in a child who undergoes an ultrasound examination for some other reasons. Early diagnosis is important, because the condition can lead to hepatic encephalopathy and hypoglycemia. Author's would like to describe the findings of one such patient diagnosed to be having congenital intrahepatic shunt and discuss the clinical importance of this condition.

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

PubMed

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

2015-01-01

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

Genetic and flow anomalies in congenital heart disease.

PubMed

Rugonyi, Sandra

2016-01-01

Congenital heart defects are the most common malformations in humans, affecting approximately 1% of newborn babies. While genetic causes of congenital heart disease have been studied, only less than 20% of human cases are clearly linked to genetic anomalies. The cause for the majority of the cases remains unknown. Heart formation is a finely orchestrated developmental process and slight disruptions of it can lead to severe malformations. Dysregulation of developmental processes leading to heart malformations are caused by genetic anomalies but also environmental factors including blood flow. Intra-cardiac blood flow dynamics plays a significant role regulating heart development and perturbations of blood flow lead to congenital heart defects in animal models. Defects that result from hemodynamic alterations, however, recapitulate those observed in human babies, even those due to genetic anomalies and toxic teratogen exposure. Because important cardiac developmental events, such as valve formation and septation, occur under blood flow conditions while the heart is pumping, blood flow regulation of cardiac formation might be a critical factor determining cardiac phenotype. The contribution of flow to cardiac phenotype, however, is frequently ignored. More research is needed to determine how blood flow influences cardiac development and the extent to which flow may determine cardiac phenotype.

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

PubMed

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

2015-01-01

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

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.

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

PubMed

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

2018-01-01

To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status. According to WHO, 17%-42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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…

Simultaneous Surgical Treatment of Congenital Spinal Deformity Associated with Intraspinal Anomalies.

PubMed

Singrakhia, Manoj; Malewar, Nikhil; Deshmukh, Sonal; Deshmukh, Shivaji

2018-06-01

Prospective case series. To study the safety, efficacy, and long-term outcomes of single-stage surgical intervention for congenital spinal deformity and intraspinal anomalies. Congenital spinal deformities associated with intraspinal anomalies are usually treated sequentially, first by treating the intraspinal anomalies followed by deformity correction after a period of 3-6 months. Recently, a single-stage approach has been reported to show better postoperative results and reduced complication rates. Thirty patients (23 females and seven males) were prospectively evaluated for the simultaneous surgical treatment of congenital spinal deformity with concurrent intraspinal anomalies from May 2006 to October 2016. The average age at presentation was 9.8±3.7 years, with the average follow-up duration being 49.06±8.6 months. Clinical records were evaluated for clinical, radiological, perioperative, and postoperative data. The average angle of deformity was 56.53°±25.22° preoperatively, 21.13°±14.34° postoperatively, and 23.93°±14.99° at the final follow-up. The average surgical time was 232.58±53.56 minutes (range, 100-330 minutes), with a mean blood loss of 1,587.09±439.09 mL (range, 100-2,300 mL). Single stage surgical intervention for intraspinal anomalies with congenital spinal deformity correction, including adequate intra-operative wake-up test, is a viable option in appropriately selected patients and has minimum complication rates.

The Chernobyl accident, congenital anomalies and other reproductive outcomes.

PubMed

Little, J

1993-04-01

Studies of the association between the Chernobyl accident in April 1986 and reproductive outcome, with particular reference to congenital anomalies, are reviewed. All of the studies so far have been based on the detection of a change in frequency over time. An increased frequency of trisomy 21 in the former West Berlin in January 1987, and increases in the frequency of neural tube defects in several small hospital-based series in Turkey, are not confirmed in larger and more representative series in Europe. No clear changes in the prevalence at birth of anomalies which might be associated with the accident are apparent in Byelorussia or the Ukraine, the republics with the highest exposure to fallout. However, these data are difficult to interpret as the methods of acquisition have not been described and they have not yet been reported in full. Thus, there is no consistent evidence of a detrimental physical effect of the Chernobyl accident on congenital anomalies. This is also the case for other measured outcomes of pregnancy. There is evidence of indirect effects--an increase in induced abortions substantial enough to show as a reduction in total births, due to anxieties created. Data are not available on the reproductive outcomes of women pregnant at the time of the accident who were evacuated from the 30 km zone of immediate contamination, of workers in the plant at the time of the accident or of decontamination workers. Moreover, no data are available from several of the other countries closest to the Chernobyl area.

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

PubMed Central

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

2013-01-01

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

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.

Simultaneous Surgical Treatment of Congenital Spinal Deformity Associated with Intraspinal Anomalies

PubMed Central

Singrakhia, Manoj; Malewar, Nikhil; Deshmukh, Sonal; Deshmukh, Shivaji

2018-01-01

Study Design Prospective case series. Purpose To study the safety, efficacy, and long-term outcomes of single-stage surgical intervention for congenital spinal deformity and intraspinal anomalies. Overview of literature Congenital spinal deformities associated with intraspinal anomalies are usually treated sequentially, first by treating the intraspinal anomalies followed by deformity correction after a period of 3–6 months. Recently, a single-stage approach has been reported to show better postoperative results and reduced complication rates. Methods Thirty patients (23 females and seven males) were prospectively evaluated for the simultaneous surgical treatment of congenital spinal deformity with concurrent intraspinal anomalies from May 2006 to October 2016. The average age at presentation was 9.8±3.7 years, with the average follow-up duration being 49.06±8.6 months. Clinical records were evaluated for clinical, radiological, perioperative, and postoperative data. Results The average angle of deformity was 56.53°±25.22° preoperatively, 21.13°±14.34° postoperatively, and 23.93°±14.99° at the final follow-up. The average surgical time was 232.58±53.56 minutes (range, 100–330 minutes), with a mean blood loss of 1,587.09±439.09 mL (range, 100–2,300 mL). Conclusions Single stage surgical intervention for intraspinal anomalies with congenital spinal deformity correction, including adequate intra-operative wake-up test, is a viable option in appropriately selected patients and has minimum complication rates. PMID:29879774

Congenital anomalies of the hand. The Asian perspective.

PubMed

Ogino, T

1996-02-01

To have a better understanding of teratogenic mechanisms of congenital absence of digits, ulnar and radial deficiencies, cleft hand, and symbrachydactyly were analyzed in clinical cases. The same anomalies were induced in rat fetuses by busulfan, and their characteristics were investigated. The formation process of longitudinal deficiency also was observed histologically. There seemed to be 4 teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features, and the cause of these deficiencies is related closely to a deficit of mesenchymal cells in the limb bud caused by the impairment before the formation of the limb bud. Cleft hand, central polydactyly, and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Cleft hand formation process from osseous syndactylies and central polydactylies was supposed. The teratogenic mechanism of cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the transverse deficiency can be regarded as equivalent to the category of bony dysplasia of the hand. Congenital constriction ring syndrome does appear after the formation of the digital rays.

Trends in congenital anomalies in Europe from 1980 to 2012

PubMed Central

Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E. H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

2018-01-01

Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003–2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation. PMID:29621304

Congenital cardiac anomalies in an English bulldog.

PubMed

McConkey, Marina J

2011-11-01

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

[Congenital generalized lipodystrophy in a patient with Dandy Walker anomaly].

PubMed

Luna, Cecilia Inés; Fernández Cordero, Marisa; Escruela, Romina; Sierra, Valeria; Córdoba, Antonela; Goñi, Ignacio María; Berridi, Ricardo

2014-10-01

The objective of this study is to describe the unexpected association between the congenital generalized lipodystrophy (CGL) and Dandy Walker anomaly. We report the case of a 1-year-old infant who was hospitalized at her fourth month of life with Dandy Walker anomaly diagnosis and an increased social risk. During her hospitalization, she developed progressively: acromegaloid aspect, triangular fascia, hirsutism, lipoatrophy, muscle hypertrophy, clitoromegaly, abdominal distention, progressive hepatomegaly, and hypertriglyceridemia. This led to the clinical diagnosis of congenital generalized lipodystrophy. Importance should be given to the examination of clinical aspects as well as the interdisciplinary follow-up for proper detection of insulin resistance and diabetes, early puberty, cardiomyopathy, among others. In case of Dandy Walker anomaly, it should be checked the evolution to search intracranial hypertension signs. Due to its autosomal recessive nature, it is important to provide genetic counseling to the parents.

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

PubMed

Ali, Ahmed Ali Abdelrahim

2018-01-01

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

Stillbirth and congenital anomalies in migrants in Europe.

PubMed

Nybo Andersen, Anne-Marie; Gundlund, Anna; Villadsen, Sarah Fredsted

2016-04-01

The risk of giving birth to a stillborn child or a child with severe congenital anomaly is higher for women who have immigrated to Europe as compared to the majority population in the receiving country. The literature, however, reveals great differences between migrant groups, even within migrants from low-income countries, although there is no clear pattern regarding refugee or non-refugee status. This heterogeneity argues against a particular migration-related explanation. There are social disparities in stillbirth risk worldwide, and it has been suggested that the demonstrated ethnic disparity is a result of the socioeconomic disadvantage most migrants face. Consanguinity has been considered as another cause for the increased stillbirth risk and the high risk of congenital anomaly observed in many migrant groups. Utilization and quality of care during pregnancy and childbirth is the third major aspect. All three factors seem to contribute to stillbirth risk, and they should be considered in clinical practice and public health. Copyright © 2015 Elsevier Ltd. All rights reserved.

Factors associated with congenital anomalies in Addis Ababa and the Amhara Region, Ethiopia: a case-control study.

PubMed

Taye, Molla; Afework, Mekbeb; Fantaye, Wondwossen; Diro, Ermias; Worku, Alemayehu

2018-04-25

The early stage of embryo development is extremely vulnerable to various teratogenic factors, leading to congenital anomalies. In Ethiopia, a significant number of babies are born with congenital anomalies, but the risk factors for the anomalies have never been studied. Understanding the specific risk factors for congenital anomalies is very essential to provide health education that aims at creating awareness and establishing preventive strategic plan/s. The main objective of this study was to assess the risk factors associated with congenital anomalies in Addis Ababa and the Amhara Region, Ethiopia. A case-control study was conducted from January 1- June 30, 2015. The participants were recruited at the purposively selected hospitals in Addis Ababa and the Amhara Region. A total of 207 cases and 207 controls were included in the study. Cases were neonates, infants, and children 0-11 months of age with external and internal major congenital anomalies diagnosed by pediatricians. Controls were neonates, infants, and children 0-11 months of age without external and internal anomalies. Data on sociodemographic characteristics, exposure to risk factors, and reproductive history were collected by face to face interviews with children's mothers/caregivers using a structured questionnaire. Binary logistic regression was employed to explore risk factors associated with the occurrence of the problems. About 87.4% of the children were below 6 months, and 12.6% were between 6 and 11 months. The majority (59.9%) of the children were male, with the M: F sex ratio of 1.49. The mean age of the mothers was 26 years (16-45 years). Unidentified medication use during early pregnancy (AOR = 4.595; 95% CI: 1.868-11.301, P-value = 0.001), maternal alcohol drinking (AOR = 2.394; 95% CI: 1.212-4.726, P-value = 0.012), and exposure to chemicals (AOR = 9.964; 95% CI = 1.238-80.193, P-value = 0.031) were significantly associated with the occurrence of

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

PubMed

Ozer, Pinar A; Yalniz-Akkaya, Zuleyha

2015-07-01

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

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

PubMed

Li, Huixia; Zheng, Jianfei; Luo, Jiayou; Zeng, Rong; Feng, Na; Zhu, Na; Feng, Qi

2015-01-01

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

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

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 I 2 tests. Results Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU), methimazole/carbimazole (MMI/CMZ), and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42), 1.64 (95%CI: 1.39-1.92), and 1.83 (95%CI: 1.30-2.56) for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively. Conclusions The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly. PMID:25974033

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

PubMed Central

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

2000-01-01

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

Partial duplication of head--a rare congenital anomaly.

PubMed

Hemachandran, Manikkapurath; Radotra, Bishan Dass

2004-10-01

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

Poland syndrome a rare congenital anomaly.

PubMed

Ibrahim, Aliyu; Ramatu, Abdallah; Helen, Akhiwu

2013-07-01

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

Congenital anomalies of the breast.

PubMed

Caouette-Laberge, Louise; Borsuk, Daniel

2013-02-01

Poland syndrome is a combination of chest wall deformity and absent or hypoplastic pectoralis muscle and breast associated with shortening and brachysyndactyly of the upper limb. Clinical presentation varies widely; therefore, reconstructive procedures have to be adapted to the deformity, ranging from chest wall stabilization or augmentation, dynamic muscle transfer, nipple and areola repositioning, and breast augmentation using prosthesis or autologous tissue transfer. Other congenital breast anomalies include supernumerary nipple and areola (polythelia) and breast (polymastia), which can generally be found on the embryonic mammary ridge. Absence of the nipple, areola (athelia), or the breast tissue (amastia) is less frequent.

Congenital Anomalies of the Breast

PubMed Central

Caouette-Laberge, Louise; Borsuk, Daniel

2013-01-01

Poland syndrome is a combination of chest wall deformity and absent or hypoplastic pectoralis muscle and breast associated with shortening and brachysyndactyly of the upper limb. Clinical presentation varies widely; therefore, reconstructive procedures have to be adapted to the deformity, ranging from chest wall stabilization or augmentation, dynamic muscle transfer, nipple and areola repositioning, and breast augmentation using prosthesis or autologous tissue transfer. Other congenital breast anomalies include supernumerary nipple and areola (polythelia) and breast (polymastia), which can generally be found on the embryonic mammary ridge. Absence of the nipple, areola (athelia), or the breast tissue (amastia) is less frequent. PMID:24872738

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

PubMed Central

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

2011-01-01

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

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

PubMed

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

2008-01-01

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

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

PubMed

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

2005-02-01

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

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

PubMed

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

2015-05-01

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

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

PubMed

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

2016-05-01

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

[Congenital anomalies of cerebral artery and intracranial aneurysm].

PubMed

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

1976-02-01

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

A sonographic approach to prenatal classification of congenital spine anomalies

PubMed Central

Robertson, Meiri; Sia, Sock Bee

2015-01-01

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

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

PubMed

Askelsdóttir, Björk; Conroy, Sherrill; Rempel, Gwen

2008-12-01

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

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

PubMed Central

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

2015-01-01

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

Presentation and Treatment of Poland Anomaly.

PubMed

Buckwalter V, Joseph A; Shah, Apurva S

2016-12-01

Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction. Syndactyly reconstruction is recommended in all but the mildest cases because most patients with Poland anomaly have notable brachydactyly, and digital separation can improve functional length. Conclusions: Improved understanding the etiology and presentation of Poland anomaly can improve clinician recognition and management of this rare congenital condition.

Presentation and Treatment of Poland Anomaly

PubMed Central

Buckwalter V, Joseph A.; Shah, Apurva S.

2016-01-01

Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction. Syndactyly reconstruction is recommended in all but the mildest cases because most patients with Poland anomaly have notable brachydactyly, and digital separation can improve functional length. Conclusions: Improved understanding the etiology and presentation of Poland anomaly can improve clinician recognition and management of this rare congenital condition. PMID:28149203

Genetics of Congenital Heart Disease: Past and Present.

PubMed

Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

2017-04-01

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

Comorbid Conditions in Neonates With Congenital Heart Disease.

PubMed

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

2016-08-01

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

Hypospadiac Duplication of Anterior Urethra-a Rare Congenital Anomaly.

PubMed

Goyal, Bhawana; Gupta, Suresh; Goyal, Parag

2017-02-01

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

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

PubMed

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

2013-10-19

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

Risk of congenital anomalies after exposure to asthma medication in the first trimester of pregnancy - a cohort linkage study.

PubMed

Garne, E; Vinkel Hansen, A; Morris, J; Jordan, S; Klungsøyr, K; Engeland, A; Tucker, D; Thayer, D S; Davies, G I; Nybo Andersen, A-M; Dolk, H

2016-09-01

To examine the effect of maternal exposure to asthma medications on the risk of congenital anomalies. Meta-analysis of aggregated data from three cohort studies. Linkage between healthcare databases and EUROCAT congenital anomaly registries. 519 242 pregnancies in Norway (2004-2010), Wales (2000-2010) and Funen, Denmark (2000-2010). Exposure defined as having at least one prescription for asthma medications issued (Wales) or dispensed (Norway, Denmark) from 91 days before to 91 days after the pregnancy start date. Odds ratios (ORs) were estimated separately for each register and combined in meta-analyses. ORs for all congenital anomalies and specific congenital anomalies. Overall exposure prevalence was 3.76%. For exposure to asthma medication in general, the adjusted OR (adjOR) for a major congenital anomaly was 1.21 (99% CI 1.09-1.34) after adjustment for maternal age and socioeconomic position. The OR of anal atresia was significantly increased in pregnancies exposed to inhaled corticosteroids (3.40; 99% CI 1.15-10.04). For severe congenital heart defects, an increased OR (1.97; 1.12-3.49) was associated with exposure to combination treatment with inhaled corticosteroids and long-acting beta-2-agonists. Associations with renal dysplasia were driven by exposure to short-acting beta-2-agonists (2.37; 1.20-4.67). The increased risk of congenital anomalies for women taking asthma medication is small with little confounding by maternal age or socioeconomic status. The study confirmed the association of inhaled corticosteroids with anal atresia found in earlier research and found potential new associations with combination treatment. The potential new associations should be interpreted with caution due to the large number of comparisons undertaken. This cohort study found a small increased risk of congenital anomalies for women taking asthma medication. © 2016 The Authors. BJOG An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd

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

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

PubMed

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

2013-08-01

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

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

PubMed

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

2016-02-01

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

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

PubMed

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

2014-01-01

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

Fetal anomalies and long-term effects associated with substance abuse in pregnancy: a literature review.

PubMed

Viteri, Oscar A; Soto, Eleazar E; Bahado-Singh, Ray O; Christensen, Carl W; Chauhan, Suneet P; Sibai, Baha M

2015-04-01

Substance abuse in pregnancy remains a major public health problem. Fetal teratogenicity results from the effect of these substances during fetal development, particularly when used in combination. This review will focus on and attempt to clarify the existing literature regarding the association of substance abuse on the development of congenital anomalies and the long-term implications in exposed offspring. Systematic review of available English literature using the PubMed database of all peer-reviewed articles on the subject. A total of 128 articles were included in this review. Alcohol was the most common substance associated with fetal anomalies, particularly facial dysmorphisms and alterations in the central nervous system development. Adverse maternal environments associated with risky behaviors and lack of adequate prenatal care precludes the timely detection of fetal anomalies, confounding most studies linking causality. In addition, although methodological differences and limited availability of well-designed trials exist, substance abuse in pregnancy has been associated with adverse long-term outcomes in infant growth, behavior, cognition, language and achievement. The literature summarized in this review suggests that drug exposure during pregnancy may increase the risk of congenital anomalies and long-term adverse effects in exposed children and adolescents. These conclusions must be tempered by the many confounders associated with drug use. A multidisciplinary approach is paramount for appropriate counseling regarding the known immediate and long-term risks of substance abuse in pregnancy. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

CONGENITAL ANOMALIES OF THE LIMBS: II. PSYCHOLOGICAL AND EDUCATIONAL ASPECTS.

PubMed

GINGRAS, G; MONGEAU, M; MOREAULT, P; DUPUIS, M; HEBERT, B; CORRIVEAU, C

1964-07-18

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). The medical and prosthetic aspects were dealt with in Part I of this paper. Part II describes, in a joint report, the results of psychiatric, psychological and educational assessments.There was no evidence of major emotional disorder in any of the patients, although conflicts were intensified by the presence of the physical anomaly. No relation was found between intelligence, emotional adjustment and disability. The patient's attitude towards his disability and prosthesis is definitely influenced by the degree of parental acceptance of the handicap and by the character of the emotional undertones in the total environment. In order to favour the occurrence of the healthiest modes of development in these children, the authors believe that the medical profession should be made fully aware of the physical and emotional problems which may arise after the birth of a deformed child. It is considered very important that the mother should receive psychotherapeutic support as soon as possible after the child is born.

Incidence of Fanconi anemia in children with congenital thumb anomalies referred for diepoxybutane testing.

PubMed

Webb, Michelle L; Rosen, Heather; Taghinia, Amir; McCarty, Erika R; Cerrato, Felecia; Upton, Joseph; Labow, Brian I

2011-06-01

Fanconi anemia (FA) is a rare genetic disorder of DNA repair that with near uniformity leads to bone marrow failure and resulting morbidity and mortality. Approximately 50% of FA patients are born with anomalies of the thumb or thumb and radius, and it has been recommended that all patients born with thumb anomalies undergo testing. However, the risk of FA in this population is unknown. We determined the incidence of FA in children with congenital thumb anomalies referred for FA testing and characterized those who tested positive. We queried our database for patients who presented with congenital thumb anomalies and who underwent diepoxybutane (DEB) testing for FA between 1999 and 2008 at Children's Hospital Boston and the Dana-Farber Cancer Institute. During this time period, 543 congenital thumb anomaly patients (235 with thumb hypoplasia) presented to our institution. A total of 81 patients with thumb abnormalities underwent DEB testing. Six patients (7% of those tested; 1% of the total; 3% of thumb hypoplasia patients) had a positive DEB test consistent with the diagnosis of FA; all had other non-upper-extremity anomalies associated with FA. Of 6 FA patients, 5 had bilateral involvement; all had some degree of thumb hypoplasia (3 also had radial dysplasia). Mean age at testing was 2.6 years (SD 4.3). Most of the patients tested had multiple physical anomalies (n = 66). The anomaly distribution was: thumb hypoplasia and radial dysplasia (n = 29), thumb hypoplasia (n = 26), radial polydactyly (n = 12), radial polydactyly and radial dysplasia (n = 1), and proximally placed thumb and radial dysplasia (n = 1). Twelve patients had other thumb anomalies. Although the incidence of FA in patients with thumb anomalies may be low, patients with thumb hypoplasia and other physical findings associated with FA, specifically café au lait spots and short stature, appear to have an increased risk of FA. Because hand surgeons see these patients early in life, they have the

Congenital portosystemic venous shunt.

PubMed

Papamichail, M; Pizanias, M; Heaton, N

2018-03-01

Congenital portosystemic venous shunts are rare developmental anomalies resulting in diversion of portal flow to the systemic circulation and have been divided into extra- and intrahepatic shunts. They occur during liver and systemic venous vascular embryogenesis and are associated with other congenital abnormalities. They carry a higher risk of benign and malignant liver tumors and, if left untreated, can result in significant medical complications including systemic encephalopathy and pulmonary hypertension. This article reviews the various types of congenital portosystemic shunts and their anatomy, pathogenesis, symptomatology, and timing and options of treatment. What is Known: • The natural history and basic management of this rare congenital anomaly are presented. What is New: • This paper is a comprehensive review; highlights important topics in pathogenesis, clinical symptomatology, and treatment options; and proposes an algorithm in the management of congenital portosystemic shunt disease in order to provide a clear idea to a pediatrician. An effort has been made to emphasize the indications for treatment in the children population and link to the adult group by discussing the consequences of lack of treatment or delayed diagnosis.

Midline cervical cleft: a rare congenital anomaly.

PubMed

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

2009-11-01

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

Fast-track surgery concepts for congenital urogenital anomalies.

PubMed

Bizic, Marta R; Majstorovic, Marko J; Vukadinovic, Vojkan; Korac, Gradimir; Krstic, Zoran; Radojicic, Zoran; Ducic, Sinisa; Djordjevic, Miroslav L

2013-01-01

To investigate the possibility of fast-track surgery concepts in pediatric urology department as a single center study model of a developing country. The study included 1620 patients surgically treated at the pediatric urology department, from 2009 to 2011. According to the congenital anomalies, all patients were classified in one of four groups: I - testicular anomalies (197 patients); II - external genital anomalies (453); III - upper urinary tract anomalies (801) and IV - associated anomalies (169). We analyzed the total duration of stay in the hospital of all patients among all treating doctors concerning the anomaly. Statistically significant difference in total length of hospitalization of all patients in Group I was noted in Doctors 1 and 5 (F=10.36** for F0.05;5;12=3.11 and F0.01;5;12=5.06), as well as in the Group II (F=17.01** for F0.05;5;12=3.11 and F0.01;5;12=5.06). Statistical analysis was not possible to be performed in groups III and IV because of lack of the patients. Analyzing the length of hospitalization of the patients treated at the urology department, all doctors showed the tendency to shorten the total length of hospitalization in patients of all groups. Majority of the studies carried out on pediatric urology departments in developed countries, showed that over 50% of children were successfully treated using fast-track surgery concept. Modern methods of surgical management and anesthesia allow decrease of hospitalization length, financial savings to the healthcare system and better comfort for patients.

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

PubMed

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

2007-07-01

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

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

PubMed

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

2016-05-01

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

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.

Common pediatric head and neck congenital/developmental anomalies.

PubMed

LaPlante, Justin K; Pierson, Nicholas S; Hedlund, Gary L

2015-01-01

Pediatric head and neck neuroradiology is a broad and complex topic. This article focuses on several of the common and sometimes challenging pediatric head and neck congenital/developmental anomalies physicians may encounter in clinical practice. Although some diagnoses may be evident on physical examination, others may present a diagnostic dilemma. Patients may initially present with a variety of secondary findings. Imaging serves an important role in making a diagnosis, guiding referral, and in some cases even providing treatment options through interventional radiology. Key diagnostic criteria and critical points of interest for each diagnosis are presented. Copyright © 2015 Elsevier Inc. All rights reserved.

Congenital Anomaly of Single Dominant Right Coronary Artery with Hypoplastic Left Coronary Artery.

PubMed

Chuang, Cheng-Yen; Chen, Yen-Chou; Cheng, Ho-Shun; Hsieh, Ming-Hsiung

2015-11-01

With the popularization of new imaging technology, more people are deciding to undergo non-invasive studies such as multidetector computerized tomography (MDCT) before receiving coronary angiography. For this reason, coronary anomalies of coronary artery are being encountered more frequently. We here report a 68-year-old male presenting with typical angina. The MDCT images suggested chronic total occlusion of the left anterior descending (LAD) artery with collateral circulation from the right coronary artery (RCA). The patient's coronary angiography showed a congenital coronary anomaly with a single dominant RCA supplying the entire coronary circulation of the heart with both LAD and left circumflex artery hypoplasia. Angiography; Anomaly; Computerized tomography; Coronary artery.

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

PubMed

Daack-Hirsch, Sandra; Gamboa, Henrietta

2012-11-01

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

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

PubMed

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

2017-08-01

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

Management of Congenital Chest Wall Deformities

PubMed Central

Blanco, Felix C.; Elliott, Steven T.; Sandler, Anthony D.

2011-01-01

Congenital chest wall deformities are considered to be anomalies in chest wall growth. These can be categorized as either rib cage overgrowth or deformities related to inadequate growth (aplasia or dysplasia). Rib cage overgrowth leads to depression of the sternum (pectus excavatum) or protuberance of the sternum (pectus carinatum) and accounts for greater than 90% of congenital chest wall deformities. The remaining deformities are a result of inadequate growth. Evolution in the management of congenital chest wall deformities has made significant progress over the past 25 years. This article will review chest wall deformities and the current management strategies of these interesting anomalies. PMID:22294949

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

PubMed Central

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

2014-01-01

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

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

Risk of congenital anomalies in the vicinity of municipal solid waste incinerators

PubMed Central

Cordier, S; Chevrier, C; Robert-Gnansia, E; Lorente, C; Brula, P; Hours, M

2004-01-01

Background: Although municipal solid waste incineration (MSWI) has contributed to increase the overall environmental load of particulate matter containing dioxins and metals, evidence of health consequences to populations is sparse. Aims: To assess at a regional level (in southeast France) the impact of these emissions on birth defect rates. Methods: Communities with fewer than 50 000 inhabitants surrounding the 70 incinerators that operated at least one year from 1988 to 1997 were studied. Each exposed community (n = 194) was assigned an exposure index estimated from a Gaussian plume model. Poisson models and a reference population of the 2678 unexposed communities in the region were used to calculate relative risks for congenital malformations, adjusted for year of birth, maternal age, department of birth, population density, average family income, and when available, local road traffic. Results: The rate of congenital anomalies was not significantly higher in exposed compared with unexposed communities. Some subgroups of major anomalies, specifically facial clefts and renal dysplasia, were more frequent in the exposed communities. Among exposed communities, a dose-response trend of risk with increasing exposure was observed for obstructive uropathies. Risks of cardiac anomalies, obstructive uropathies, and skin anomalies increased linearly with road traffic density. Conclusions: Although both incinerator emissions and road traffic may plausibly explain some of the excess risks observed, several alternative explanations, including exposure misclassification, ascertainment bias, and residual confounding cannot be excluded. Some of the effects observed, if real, might be attributable to old-technology MSWIs and the persistent pollution they have generated. PMID:14691267

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

PubMed

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

2010-03-01

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

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

PubMed Central

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

2006-01-01

Objective To provide perinatal mortality and congenital anomaly rates for babies born to women with type 1 or type 2 diabetes in England, Wales, and Northern Ireland. Design National population based pregnancy cohort. Setting 231 maternity units in England, Wales, and Northern Ireland. Participants 2359 pregnancies to women with type 1 or type 2 diabetes who delivered between 1 March 2002 and 28 February 2003. Main outcome measures Stillbirth rates; perinatal and neonatal mortality; prevalence of congenital anomalies. Results Of 2359 women with diabetes, 652 had type 2 diabetes and 1707 had type 1 diabetes. Women with type 2 diabetes were more likely to come from a Black, Asian, or other ethnic minority group (type 2, 48.8%; type 1, 9.1%) and from a deprived area (type 2, 46.3% in most deprived fifth; type 1, 22.8%). Perinatal mortality in babies of women with diabetes was 31.8/1000 births. Perinatal mortality was comparable in babies of women with type 1 (31.7/1000 births) and type 2 diabetes (32.3/1000) and was nearly four times higher than that in the general maternity population. 141 major congenital anomalies were confirmed in 109 offspring. The prevalence of major congenital anomaly was 46/1000 births in women with diabetes (48/1000 births for type 1 diabetes; 43/1000 for type 2 diabetes), more than double that expected. This increase was driven by anomalies of the nervous system, notably neural tube defects (4.2-fold), and congenital heart disease (3.4-fold). Anomalies in 71/109 (65%) offspring were diagnosed antenatally. Congenital heart disease was diagnosed antenatally in 23/42 (54.8%) offspring; anomalies other than congenital heart disease were diagnosed antenatally in 48/67 (71.6%) offspring. Conclusion Perinatal mortality and prevalence of congenital anomalies are high in the babies of women with type 1 or type 2 diabetes. The rates do not seem to differ between the two types of diabetes. PMID:16782722

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

PubMed

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

2014-07-19

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

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

PubMed Central

2014-01-01

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

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

PubMed

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

2011-11-01

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

The role of 3D printing in treating craniomaxillofacial congenital anomalies.

PubMed

Lopez, Christopher D; Witek, Lukasz; Torroni, Andrea; Flores, Roberto L; Demissie, David B; Young, Simon; Cronstein, Bruce N; Coelho, Paulo G

2018-05-20

Craniomaxillofacial congenital anomalies comprise approximately one third of all congenital birth defects and include deformities such as alveolar clefts, craniosynostosis, and microtia. Current surgical treatments commonly require the use of autogenous graft material which are difficult to shape, limited in supply, associated with donor site morbidity and cannot grow with a maturing skeleton. Our group has demonstrated that 3D printed bio-ceramic scaffolds can generate vascularized bone within large, critical-sized defects (defects too large to heal spontaneously) of the craniomaxillofacial skeleton. Furthermore, these scaffolds are also able to function as a delivery vehicle for a new osteogenic agent with a well-established safety profile. The same 3D printers and imaging software platforms have been leveraged by our team to create sterilizable patient-specific intraoperative models for craniofacial reconstruction. For microtia repair, the current standard of care surgical guide is a two-dimensional drawing taken from the contralateral ear. Our laboratory has used 3D printers and open source software platforms to design personalized microtia surgical models. In this review, we report on the advancements in tissue engineering principles, digital imaging software platforms and 3D printing that have culminated in the application of this technology to repair large bone defects in skeletally immature transitional models and provide in-house manufactured, sterilizable patient-specific models for craniofacial reconstruction. © 2018 Wiley Periodicals, Inc.

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

PubMed

Gesser-Edelsburg, Anat; Shahbari, Nour Abed Elhadi

2017-04-04

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

Anomalies of the systemic venous return: a review.

PubMed

Mazzucco, A; Bortolotti, U; Stellin, G; Gallucci, V

1990-06-01

Congenital anomalies of the systemic venous connection to the heart represent a rather wide and heterogeneous group of malformations, whose physiological consequences may vary from nil to the most severe form of systemic arterial desaturation. The malformations may be summarized as follows: (1) Left superior vena cava connected to the coronary sinus, interrupted inferior vena cava and absent right superior vena cava that do not indicate surgical repair 'per se', but require some technical attention during open heart surgery performed for other anomalies; (2) Left superior vena cava connected to the left atrium, due to incorporation of the coronary sinus into the left atrial cavity, resulting in a right-to-left-shunt; (3) Right superior vena cava or inferior vena cava draining into the left atrium, both are extremely rare and require treatment for the ensuing right-to-left shunt; (4) Total anomalous systemic venous connection to the left atrium, usually combined with atrial isomerism and other very complex heart malformations; (5) Cor triatriatum dexter, which has been frequently diagnosed as an anomalous venous connection for its similar hemodynamic consequences. Such anomalies are reviewed with particular respect to their surgical implications.

No increased risk of major congenital anomalies or adverse pregnancy or neonatal outcomes following letrozole use in assisted reproductive technology.

PubMed

Tatsumi, T; Jwa, S C; Kuwahara, A; Irahara, M; Kubota, T; Saito, H

2017-01-01

Does letrozole use increase the risk of major congenital anomalies and adverse pregnancy and neonatal outcomes in fresh, single-embryo transfer? Letrozole significantly decreases the risk of miscarriage and does not increase the risk of major congenital anomalies or adverse pregnancy or neonatal outcomes compared with natural cycles in patients undergoing ART. Letrozole is the most commonly used aromatase inhibitor for mild ovarian stimulation in ART. However, its safety in terms of pregnancy and neonatal outcomes is unclear. This retrospective cohort study used data from the Japanese national ART registry from 2011 to 2013. A total of 3136 natural cycles and 792 letrozole-induced cycles associated with fresh, single-embryo transfer and resulting in a clinical pregnancy were included in the analysis. The main pregnancy outcomes were miscarriage, ectopic pregnancy and still birth, and the neonatal outcomes were preterm delivery, low birth weight, small/large for gestational age and major congenital anomalies. Terminated pregnancies were included in the analysis of major congenital anomalies. Odds ratios (ORs) and 95% CIs were calculated using multivariate logistic regression analysis adjusted for maternal age and calendar year. The risk of miscarriage was significantly lower in women administered letrozole (adjusted OR [aOR], 0.37, 95% CI, 0.30-0.47, P < 0.001). There was no significant difference in the overall risk of major congenital anomalies between the two groups (natural cycle 1.5% vs letrozole 1.9%, aOR, 1.24, 95% CI, 0.64-2.40, P = 0.52), and no increased risk for any specific organ system. Subgroup analysis demonstrated that the risk of major congenital anomalies was not increased in patients who underwent either in vitro fertilization or ICSI, or in those who received early cleavage stage or blastocyst embryo transfer. All other pregnancy and neonatal outcomes were comparable between the two groups. Despite the large sample size, we were only able to

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

PubMed

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

2015-11-01

Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies. We linked data from primary care and prescription databases to five European Surveillance of Congenital Anomalies (EUROCAT) CA registries. The linkage was evaluated by looking at linkage rate, characteristics of linked and non-linked cases, first trimester exposure rates for six groups of medicines according to the prescription data and information on medication use registered in the CA databases, and agreement of exposure. Of the 52,619 cases registered in the CA databases, 26,552 could be linked. The linkage rate varied between registries over time and by type of birth. The first trimester exposure rates and the agreements between the databases varied for the different medicine groups. Information on anti-epileptic drugs and insulins and analogue medicine use recorded by CA registries was of good quality. For selective serotonin reuptake inhibitors, anti-asthmatics, antibacterials for systemic use, and gonadotropins and other ovulation stimulants, the recorded information was less complete. Linkage of primary care or prescription databases to CA registries improved the quality of information on maternal use of medicines in pregnancy, especially for medicine groups that are less fully registered in CA registries.

RENAC: National Registry of Congenital Anomalies of Argentina.

PubMed

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

2013-12-01

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

Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review.

PubMed

Vázquez-López, María E; López-Conde, María I; Somoza-Rubio, Carlos; Pérez-Pacín, Roberto; Morales-Redondo, Ramón; González-Gay, Miguel A

2005-05-01

Jarcho Levin syndrome is a congenital disorder characterized by the presence of rib and vertebral defects at birth. This syndrome is usually diagnosed in newborns with short neck and trunk and short stature. They present multiple vertebral anomalies at different levels of the spine, including "butterfly vertebrae", hemivertebrae and fused hypoplastic vertebrae. The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. We report a new case with short trunk and neck and vertebral and costal anomalies without respiratory problems. A literature review was conducted.

Surveillance of microcephaly and selected brain anomalies in Argentina: Relationship with Zika virus and other congenital infections.

PubMed

Tellechea, Ana Laura; Luppo, Victoria; Morales, María Alejandra; Groisman, Boris; Baricalla, Agustin; Fabbri, Cintia; Sinchi, Anabel; Alonso, Alicia; Gonzalez, Cecilia; Ledesma, Bibiana; Masi, Patricia; Silva, María; Israilev, Adriana; Rocha, Marcela; Quaglia, Marcela; Bidondo, María Paz; Liascovich, Rosa; Barbero, Pablo

2018-06-19

Zika virus (ZIKV) vertical transmission may lead to microcephaly and other congenital anomalies. In March and April 2016, the first outbreak of ZIKV occurred in Argentina. The objective was to describe the surveillance of newborns with microcephaly and other selected brain anomalies in Argentina, and evaluation different etiologies. Participants were enrolled between April 2016 and March 2017. newborns from the National Network of Congenital Abnormalities of Argentina (RENAC) with head circumference lower than the 3rd percentile according to gestational age and sex, or selected brain anomalies. Blood and urine samples from cases and their mothers were tested for ZIKV by real-time polymerase chain reaction (RT-PCR), antigen-specific Immunoglobulin M (MAC-ELISA) and plaque-reduction neutralization test (PRNT 90 ). Toxoplasmosis, rubella, herpes simplex, syphilis, and cytomegalovirus (CMV) infection were also tested. A total of 104 cases were reported, with a prevalence of 6.9 per 10,000 [95% confidence interval (CI): 5.7-8.4], a significant increase when compared with the data prior to 2016, Prevalence Rate Ratio 1.7 (95% CI 1.2-2.3). In five cases positive serology for ZIKV (IgM and IgG by PRNT) was detected. The five cases presented microcephaly with craniofacial disproportion. We detected four cases of CMV infection, three cases of congenital toxoplasmosis, two cases of herpes simplex infection, and one case of congenital syphilis. The prevalence of microcephaly was significantly higher when compared with the previous period. The system had the capacity to detect five cases with congenital ZIKV syndrome in a country with limited viral circulation. © 2018 Wiley Periodicals, Inc.

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

Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

PubMed

Duess, Johannes W; Puri, Prem

2015-08-01

Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

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

PubMed

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

2015-01-01

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

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

PubMed

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

2017-11-01

Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. Among 84,218 liveborn singletons (1997-2002) from the Danish National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO 2 ) and noise from road traffic (L den ) burden during fetal life was modeled. Outcome and covariate data were derived from registries, hospital records and questionnaires. Odds ratios (ORs) for eleven major anomaly groups associated with road traffic pollution during first trimester were estimated using logistic regression with generalized estimating equation (GEE) approach. Most of the associations tested did not suggest increased risks. A 10-µg/m 3 increase in NO 2 exposure during first trimester was associated with an adjusted ORs of 1.22 (95% confidence interval: 0.98-1.52) for ear, face and neck anomalies; 1.14 0.98-1.33) for urinary anomalies. A 10-dB increase in road traffic noise was also associated with these subgroups of anomalies as well as with an increased OR for orofacial cleft anomalies (1.17, 0.94-1.47). Inverse associations for several both air pollution and noise were observed for atrial septal defects (0.85, 0.68-1.04 and 0.81, 0.65-0.99, respectively). Residential road traffic exposure to noise or air pollution during pregnancy did not seem to pose a risk for development of congenital anomalies. Copyright © 2017 Elsevier Inc. All rights reserved.

Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries.

PubMed

Agopian, A J; Evans, Jane A; Lupo, Philip J

2018-01-15

It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs. This article reviews the literature with regard to analytic methods that have been used to evaluate patterns of MCAs, in particular those using birth defect registry data. A popular method for MCA assessment involves a comparison of the observed to expected ratio for a given combination of MCAs, or one of several modified versions of this comparison. Other methods include use of numerical taxonomy or other clustering techniques, multiple regression analysis, and log-linear analysis. Advantages and disadvantages of these approaches, as well as specific applications, were outlined. Despite the availability of multiple analytic approaches, relatively few MCA combinations have been assessed. The availability of large birth defects registries and computing resources that allow for automated, big data strategies for prioritizing MCA patterns may provide for new avenues for better understanding co-occurrence of birth defects. Thus, the selection of an analytic approach may depend on several considerations. Birth Defects Research 110:5-11, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Malformations associated with congenital diaphragmatic hernia: Impact on survival.

PubMed

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

2015-11-01

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

Study on the prevalence and neonatal lethality in patients with selected congenital anomalies as per the data of the National Registry of Congenital Anomalies of Argentina.

PubMed

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

2015-08-01

Congenital anomalies (CAs) account for 26% of infant mortality in Argentina. The lethality rate for CAs measures the risk of death among affected infants. To describe the prevalence at birth of a group of selected CAs, to estimate the neonatal lethality rate, and to examine its association with different variables. The study was conducted using data provided by the National Registry of Congenital Anomalies. Prevalences of encephalocele, spina bifida, gastroschisis, omphalocele, diaphragmatic hernia, esophageal atresia, intestinal atresia, or anorectal malformation were estimated (2009-2013 period). Lethality was assessed at 7 and 28 days of life in affected infants with an isolated anomaly (2013). Association with the following variables was analyzed: sex, gestational age, birth weight, antenatal ultrasound screening, percentage of unmet basic needs in the district where the mother lives, geographic region, and level of care at the hospital where the delivery took place. Gastroschisis was the most prevalent CA (8.53/10,000 births), while diaphragmatic hernia was the CA with the highest neonatal lethality rate (66.67%). Out of all selected CAs, there was a significant association between an higher gestational age and survival at 7 days -OR: 0.81 (0.70-0.95)- and survival at 28 days -OR: 0.79 (95% confidence interval |-CI-|: 0.68-0.91)-. A higher percentage of unmet basic needs was associated with a higher lethality for diaphragmatic hernia -OR: 1.59 (95% CI: 1.30-1.95)- and for intestinal atresia or anorectal malformation -OR: 16.00 (95% CI: 1.63-157.24)-. The high prevalence of gastroschisis is consistent with the increase observed globally. Prematurity and a high percentage of unmet basic needs increased the risk of death among affected infants.

Congenital anomalies of the urinary tract.

PubMed

Pohl, Hans G; Belman, A Barry

2014-01-01

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

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.

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

ERIC Educational Resources Information Center

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

2011-01-01

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

The comorbidities and risk factors in children with congenital airway anomalies: A nationwide population-based study in Taiwan.

PubMed

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

2018-05-01

The comorbidities and risk factors associated with congenital airway anomalies (CAAs) in children are undecided. This study aimed to investigate the comorbidities commonly associated with CAA and to explore the prognosis and risk factors in CAA children.This nationwide, population-based cohort study was conducted between 2000 and 2011 with children aged 0 to 5 years assigned to either a CAA group (6341 patients) that diagnosed with CAA or an age- and gender-matched control group (25,159 patients) without CAA, using the Taiwan National Health Insurance Research Database (NHIRD). Descriptive, logistic regression, Kaplan-Meier, and Cox regression analyses were used for the investigation.Cleft lip/palate (adjusted odds ratio [aOR], 7.88; 95% confidence interval [CI], 6.49-9.59), chromosome (aOR, 6.85; 95% CI, 5.03-9.34), and congenital neurologic (aOR, 5.52; 95% CI, 4.45-6.87) anomalies were the comorbidities most highly associated with CAA. Of the 31,500 eligible study patients, 636 (399 in the CAA group and 237 in the control group) died during the follow-up period (6.3% vs 0.9%, P < .001). The mortality risk after adjusting for age, gender, and comorbidities elevated significantly among CAA patients (adjusted hazard ratio [aHR], 4.59; 95% CI, 3.85-5.48). The need for tracheostomy (aHR, 2.98; 95% CI, 2.15-4.15), comorbidity with congenital heart disease (CHD) (aHR, 2.52; 95% CI, 2.05-3.10), and chromosome anomaly (aHR, 2.34; 95% CI, 1.70-3.23) were the independent risk factors most greatly related to CAA mortality.This study demonstrated that CAA was most highly associated with the comorbidities as cleft lip/palate, chromosome, and congenital neurologic anomalies. The CAA children had a significantly elevated mortality risk; the need for tracheostomy, CHD, and chromosome anomaly were the most related risk factors of mortality for CAA. Further studies are warranted to clarify the involved mechanisms.

The fourth branchial complex anomaly: a rare clinical entity.

PubMed

Patel, Alpen B; Hinni, Michael L

2011-01-01

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

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

PubMed

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

2012-07-01

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

Congenital absence of the portal vein--Case report and a review of literature.

PubMed

Mistinova, Jana; Valacsai, Frantisek; Varga, Ivan

2010-10-01

Congenital absence of the portal vein (CAPV) is a rare anomaly in which the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through various venous shunts. To our knowledge, we have reviewed all 83 cases of CAPV, since first described in 1793. This equates to a rate of almost 2.5 cases per year over the last 30 years. Morgan and Superina (1994, J. Pediatr. Surg. 29:1239-1241) proposed the following classification of portosystemic anomalies; either the liver is not perfused with portal blood because of a complete shunt (Type I) or the liver is perfused with portal blood due to the presence of a partial shunt (Type II). In our case, abdominal venous blood drained into the suprarenal inferior vena cava via the left renal vein and dilated left gastric veins. After analyzing all reported cases, we recognize that more than 65% of patients are females and more than 30% of all published cases had been diagnosed by the age of 5 years. Additional anomalies are common in CAPV. In the reported cases, more then 22% of patients had congenital heart disease. Other commonly found anomalies include abnormalities of the spleen, urinary and male genital tract, brain as well as skeletal anomalies. Hepatic changes such as focal nodular hyperplasia, hepatocellular carcinoma, and hepatoblastoma are diagnosed in more then 40% of patients. This article also illustrates the radiological findings of CAPV. Radiological evaluation by ultrasound, CT, and MRI is helpful to detect coexisting abnormalities. Copyright © 2010 Wiley-Liss, Inc.

Selective Serotonin Reuptake Inhibitor (SSRI) Antidepressants in Pregnancy and Congenital Anomalies: Analysis of Linked Databases in Wales, Norway and Funen, Denmark

PubMed Central

Morris, Joan K.; Davies, Gareth I.; Tucker, David; Thayer, Daniel S.; Luteijn, Johannes M.; Morgan, Margery; Garne, Ester; Hansen, Anne V.; Klungsøyr, Kari; Engeland, Anders; Boyle, Breidge; Dolk, Helen

2016-01-01

Background Hypothesised associations between in utero exposure to selective serotonin reuptake inhibitors (SSRIs) and congenital anomalies, particularly congenital heart defects (CHD), remain controversial. We investigated the putative teratogenicity of SSRI prescription in the 91 days either side of first day of last menstrual period (LMP). Methods and Findings Three population-based EUROCAT congenital anomaly registries- Norway (2004–2010), Wales (2000–2010) and Funen, Denmark (2000–2010)—were linked to the electronic healthcare databases holding prospectively collected prescription information for all pregnancies in the timeframes available. We included 519,117 deliveries, including foetuses terminated for congenital anomalies, with data covering pregnancy and the preceding quarter, including 462,641 with data covering pregnancy and one year either side. For SSRI exposures 91 days either side of LMP, separately and together, odds ratios with 95% confidence intervals (ORs, 95%CI) for all major anomalies were estimated. We also explored: pausing or discontinuing SSRIs preconception, confounding, high dose regimens, and, in Wales, diagnosis of depression. Results were combined in meta-analyses. SSRI prescription 91 days either side of LMP was associated with increased prevalence of severe congenital heart defects (CHD) (as defined by EUROCAT guide 1.3, 2005) (34/12,962 [0.26%] vs. 865/506,155 [0.17%] OR 1.50, 1.06–2.11), and the composite adverse outcome of 'anomaly or stillbirth' (473/12962, 3.65% vs. 15829/506,155, 3.13%, OR 1.13, 1.03–1.24). The increased prevalence of all major anomalies combined did not reach statistical significance (3.09% [400/12,962] vs. 2.67% [13,536/506,155] OR 1.09, 0.99–1.21). Adjusting for socio-economic status left ORs largely unchanged. The prevalence of anomalies and severe CHD was reduced when SSRI prescriptions were stopped or paused preconception, and increased when >1 prescription was recorded, but differences were

Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10.

PubMed

Bedard, Tanya; Lowry, R Brian; Sibbald, Barbara; Thomas, Mary Ann; Innes, A Micheil

2016-01-01

The use of array-based comparative genomic hybridization to assess DNA copy number is increasing in many jurisdictions. Such technology identifies more genetic causes of congenital anomalies; however, the clinical significance of some results may be challenging to interpret. A coding strategy to address cases with copy number variants has recently been implemented by the Alberta Congenital Anomalies Surveillance System and is described.

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. Copyright © 2016 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

The importance of social media for patients and families affected by congenital anomalies: A Facebook cross-sectional analysis and user survey.

PubMed

Jacobs, Robyn; Boyd, Leanne; Brennan, Kirsty; Sinha, C K; Giuliani, Stefano

2016-11-01

We aimed to define characteristics and needs of Facebook users in relation to congenital anomalies. Cross-sectional analysis of Facebook related to four congenital anomalies: anorectal malformation (ARM), congenital diaphragmatic hernia (CDH), congenital heart disease (CHD) and hypospadias/epispadias (HS/ES). A keyword search was performed to identify relevant Groups/Pages. An anonymous survey was posted to obtain quantitative/qualitative data on users and their healthcare needs. 54 Groups and 24 Pages were identified (ARM: 10 Groups; CDH: 9 Groups, 7 Pages; CHD: 32 Groups, 17 Pages; HS/ES: 3 Groups), with 16,191 Group members and 48,766 Page likes. 868/1103 (79%) of respondents were parents. Male:female ratio was 1:10.9. 65% of the users were 26-40years old. Common reasons for joining these Groups/Pages included: seeking support, education, making friends, and providing support to others. 932/1103 (84%) would like healthcare professionals (HCPs) to actively participate in their Group. 31% of the respondents felt that they did not receive enough support from their healthcare system. 97% of the respondents would like to join a Group linked to their primary hospital. Facebook Groups/Pages related to congenital anomalies are highly populated and active. There is a need for HCPs and policy makers to better understand and participate in social media to support families and improve patient care. Copyright © 2016 Elsevier Inc. All rights reserved.

Study of the Radial Peripapillary Capillary Network in Congenital Optic Disc Anomalies With Optical Coherence Tomography Angiography.

PubMed

Cennamo, Gilda; Rossi, Claudia; Ruggiero, Pasquale; de Crecchio, Giuseppe; Cennamo, Giovanni

2017-04-01

To evaluate the radial peripapillary capillary network with optical coherence tomography angiography (angio-OCT) in morning glory syndrome (MGS), optic disc colobomas, and optic disc pits, and to explore possible correlations between the neural vascular structure and the pathogenesis of congenital optic disc anomalies. Prospective observational comparative case series. Fifteen eyes of 15 patients with congenital optic disc anomalies were enrolled in this study. All patients underwent angio-OCT. The scans were centered on optic discs. The mean age at presentation was 33 years (range: 19-50 years). Congenital optic disc anomalies were identified in all 15 eyes. Three eyes had the characteristic funduscopic signs of MGS, and angio-OCT scans of the peripapillary retina revealed a dense microvascular network. Optic disc colobomas were found in 5 eyes, and the characteristic funduscopic signs of optic pits were found in 7 eyes. Angio-OCT showed the absence of a radial peripapillary microvascular network in these 12 eyes. The finding that angio-OCT scans confirmed the presence of a peripapillary microvascular network only in MGS cases supports the hypothesis that a primary neuroectodermal abnormality and a secondary mesenchymal abnormality leads to MGS. Angio-OCT is a safe, rapid imaging technique that could shed light on the pathogenesis of rare diseases of the optic disc. Copyright © 2016 Elsevier Inc. All rights reserved.

Congenital anomalies and termination of pregnancy in Iran.

PubMed

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

2012-01-01

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

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

PubMed Central

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies. PMID:22937376

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

PubMed

Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio

2016-01-01

Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing na 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. 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. 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. 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. 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. Copyright© by the International Brazilian Journal of Urology.

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

Assessment of survey radiography as a method for diagnosis of congenital cardiac disease in dogs.

PubMed

Lamb, C R; Boswood, A; Volkman, A; Connolly, D J

2001-11-01

In order to assess the diagnostic accuracy of survey radiography for canine congenital cardiac anomalies, thoracic radiographs of 57 dogs with congenital cardiac anomalies, 31 normal dogs and 27 dogs with acquired cardiac disease were mixed, and reviewed by two independent observers, who were blinded to any patient information. The congenital anomalies were aortic stenosis (n=25), pulmonic stenosis (n=10), patent ductus arteriosus (n=9), ventricular septal defect (n=8), tricuspid dysplasia (n=3) and mitral dysplasia (n=2). Both observers were moderately accurate at identifying dogs with cardiac disease. Their ability to distinguish dogs with congenital versus acquired cardiac disease was poorer and this assessment was probably influenced by the recognition of patients that were skeletally immature, which biased observers towards a diagnosis of congenital cardiac anomaly. The diagnosis rate for specific congenital anomalies was also poor (the differential list included a correct diagnosis in only 40 and 37 per cent of cases). Radiographic signs of specific cardiac chamber enlargement or pulmonary vascular abnormalities were recognised by both observers in only 20 per cent of instances in which they might be expected. They were, however, recognised more frequently in dogs with anomalies that imposed a volume load on the heart than in dogs with anomalies that induced a pressure load on the organ. It is concluded that survey radiography is an inaccurate method for diagnosis of canine congenital cardiac anomalies because of the difficulty of recognising radiographic signs, which are not present in many cases.

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

PubMed

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

2013-11-01

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

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

PubMed

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

2017-02-01

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

Epidemiology of congenital upper limb anomalies in a midwest United States population: an assessment using the Oberg, Manske, and Tonkin classification.

PubMed

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

2015-01-01

To examine the relative presentation frequency of children with upper limb congenital anomalies at 3 Midwestern referral centers using the Oberg, Manske, and Tonkin (OMT) classification and to assess the utility of this new classification system. 641 individuals with 653 congenital upper extremity anomalies were identified at 3 hospitals in 2 large metropolitan areas during a 1-year interval. Patients were identified prospectively and the specific upper extremity anomaly and any associated syndromes were confirmed using medical records and radiographs. We applied the OMT classification that categorizes anomalies using a dysmorphology outline as malformations, dysplasias, deformations, and syndromes, and assessed its utility and ease of use. There were 480 extremities (74%) with a limb malformation including 184 involving the entire limb. Arthrogryposis was the most common of these (53 extremities). Anomalies affecting only the hand plate accounted for 62% (296) of the malformations. Of these, radial polydactyly (15%) was the most common specific anomaly, followed by symbrachydactyly (13%) and cleft hand (11%). Dysplasias were noted in 86 extremities; 55 of these were multiple hereditary exostoses. There were 87 extremities with deformations and 58 of these were trigger digits. A total of 109 children had a syndrome or association. Constriction ring sequence was most common. The OMT was straightforward to use and most anomalies could be easily assigned. There were a few conditions, such as Madelung deformity and symbrachydactyly, that would benefit from clarification on how to best classify them. Malformations were the most common congenital anomalies in the 653 upper extremities evaluated over a 1-year period at 3 institutions. We were able to classify all individuals using the OMT classification system. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

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

PubMed

Afify, Ahmed R; Zawawi, Khalid H

2012-01-01

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

Ilizarov distraction-lengthening in congenital anomalies of the upper limb.

PubMed

Hülsbergen-Krüger, S; Preisser, P; Partecke, B D

1998-04-01

Nine patients underwent Ilizarov distraction-lengthening for congenital anomalies. All were late cases and had undergone other procedures. In five radial club hand patients with very short forearms, we achieved an average 5.8 cm increase in length with each distraction cycle. In two patients with symbrachydactyly of the cleft hand type, we achieved pinch grip between a radial and an ulnar digit by lengthening the short ray. Another case of the monodactyly type in which we tried to lengthen three transplanted proximal toe phalanges ended in failure. A soft tissue distraction was attempted in a case of camptodactyly but failed. We report the problems we encountered and suggest some solutions.

[Isolated left ventricular non-compaction associated with Ebstein's anomaly. Multimodality non-invasive imaging for the assessment of congenital heart disease].

PubMed

Renilla, Alfredo; Santamarta, Elena; Corros, Cecilia; Martín, María; Barreiro, Manuel; de la Hera, Jesús

2013-01-01

To establish the etiology of heart failure in patients with congenital heart disease can be challenging. Multiple concomitant anomalies that can be missed after an initial diagnosis could be seen in these patients. In patients with congenital heart disease, a more accurate evaluation of cardiac morphology and left ventricular systolic function could be evaluated by recent non-invasive cardiac imaging techniques. We present a rare case where multimodal cardiac imaging was useful to establish the final diagnosis of left ventricular non-compaction associated with Ebstein's anomaly. Copyright © 2012 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

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

PubMed Central

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

2006-01-01

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

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

PubMed

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

PubMed

Singh, Varun Pratap; Moss, Timothy P

2015-01-01

Patients with craniofacial anomalies often have appearance concerns and related social anxiety which can affect their quality of life. This study assessed the psychological impact of facial and dental appearance in patients with craniofacial anomalies in comparison to a general population control group. The study involved 102 adult patients (51% male) with congenital craniofacial anomalies and 102 controls (49% male). Both groups completed the Nepali version of Derriford Appearance Scale (DAS) and the Psychological Impact of Dental Aesthetic Questionnaire (PIDAQ) in a clinical setting to assess appearance-related distress, avoidance, and anxiety. There was a significant difference between patients and controls on both PIDAQ (mean score for patients 33.25 ± 9.45 while for controls 27.52 ± 5.67, p < 0.001) and DAS59 scores (mean score for patients 159.16 ± 31.54 while for controls 77.64 ± 6.57, p < 0.001), indicating that patients experienced greater negative psychological impact of living with their appearance (PIDAQ) and more appearance-related distress (DAS) than controls. DAS scores were not associated with gender. There was no association of the place of residence (rural vs. urban) with PIDAQ or DAS59 scores. There is a significant psychological impact of altered facial and dental appearance in patients with craniofacial anomalies compared to controls. There was no effect of locality (rural/urban) on the psychological impact of facial and dental appearance in patients.

Application of the IFSSH(3)-classification for congenital anomalies of the hand; results and problems.

PubMed

De Smet, L; Matton, G; Monstrey, S; Cambier, E; Fabry, G

1997-09-01

The extended classification proposed by the IFSSH was used to classify 1013 hand anomalies in 925 hands of 650 patients. We found associated anomalies in 26.7%. The classification was straightforward in 86%, difficult in 6.6% and not possible in 7.8%. In group I the radial and ulnar deficiencies, limited to the hand and without forearm deficiencies should be included. Group II was the most important group including 513 anomalies. We propose to include in this group the Madelung deformity, the Kirner deformity and congenital trigger fingers and trigger thumbs. Triphalangeal thumbs are a problem, we suggest to list this anomaly in group III and to consider it as a duplication in length. It is not always possible to evaluate the (transverse) absence of the fingers or hand. Longitudinal deficiencies (group IIB), symbrachydactyly group (V) and amniotic bands (group VI) occasionally develop a phenotype similar to the genuine transverse deficiency (group IA).

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

PubMed

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

2006-03-01

To explore the role of and report on congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children. Children with stroke were evaluated at the Division of Pediatric Neurology (DPN), or were seen as inpatients in the Pediatric Wards at King Khalid University Hospital (KKUH), Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Stroke work-up for each suspected case included hemostatic assays, serological, biochemical and neurophysiological tests. Neuroimaging modalities included routine skull x-rays, CT, MRI, magnetic resonance angiography (MRA) and conventional cerebral angiography. Of 104 children with stroke, congenital and genetic cerebrovascular anomalies were the underlying risk factor in 7 (6.7%). The patients were evaluated at the DPN at a mean age of 66 months (range = 8 months to 11 years, median = 6 years); and they had stroke at a mean age of 48 months (range = 2 months to 10 years, median = 8 months). Four patients had stroke in association with neurocutaneous syndromes. Two had Sturge-Weber syndrome (SWS), one had Klippel-Trenaunay syndrome associated with SWS, and the fourth had neurofibromatosis type 1. Two patients had intracranial hemorrhage secondary to ruptured aneurysm. A girl (aged 9 years and 4 months) had left posterior cerebral artery aneurysm. She was diagnosed to have autosomal dominant polycystic kidney disease following renal ultrasonography. She died 5 months later despite surgical intervention (clipping of aneurysm). The second child was an 8-month-old boy who presented with subarachnoid and intraventricular hemorrhage (IVH) following ruptured anterior communicating artery aneurysm. He recovered with no residual symptoms following successful clipping of the aneurysm. Arteriovenous malformation (AVM) caused IVH in a 7-year-old boy who reported to hospital 5 hours

Clinical features and teratogenic mechanisms of congenital absence of digits.

PubMed

Ogino, Toshihiko

2007-08-01

To have a better understanding of classification of congenital hand anomalies, clinical features and teratogenic mechanisms of congenital absence of digits including ulnar and radial deficiencies, cleft hand, symbrachydactyly and constriction band were reviewed. There seemed to be four different teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features and the cause of these deficiencies is closely related to a deficit of mesenchymal cells in the limb-bud due to impairment before the formation of the limb-bud. Cleft hand, central polydactyly and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Roentgenograms of the clinical cases and skeletal changes of the anomalies in rats appear to demonstrate that cleft hand formation proceeds from osseous syndactylies and central polydactylies. The teratogenic mechanism of a cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the congenital amputation, can be regarded as equivalent to the category of transverse deficiency that is bony dysplasia of the hand. Congenital constriction ring syndrome appears after the formation of the digital rays.

Cervical vertebral anomalies in patients with anomalies of the head and neck.

PubMed

Manaligod, J M; Bauman, N M; Menezes, A H; Smith, R J

1999-10-01

Congenital head and neck anomalies can occur in association with vertebral anomalies, particularly of the cervical vertebrae. While the former are easily recognized, especially when part of a syndrome, the latter are often occult, thereby delaying their diagnosis. The presence of vertebral anomalies must be considered in pediatric patients with head and neck abnormalities to expedite management of select cases and to prevent neurologic injury. We present our experience with 5 pediatric patients who were referred to the Department of Otolaryngology-Head and Neck Surgery at the University of Iowa with a variety of syndromic anomalies of the head and neck. Each patient was subsequently also found to have a vertebral anomaly. The relevant embryogenesis of the anomalous structures is discussed, with highlighting of potential causes such as teratogenic agents and events and germ-line mutations. A review of syndromes having both head and neck and vertebral anomalies is presented to heighten awareness of otolaryngologists evaluating children with syndromic disorders. Finally, the findings on radiographic imaging studies, particularly computed tomography, are discussed to facilitate the prompt diagnosis of vertebral anomalies.

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

PubMed

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

2014-01-01

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

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

PubMed

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

1984-09-01

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

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

PubMed Central

2012-01-01

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

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

PubMed

Papagiannopoulos, Dimitri; Gong, Edward

2017-03-01

This review article explores sports and recreational precautions in children with solitary kidneys. In 2001, the American Academy of Pediatrics published recommendations for activity in children with medical conditions. Those with solitary kidneys were graded a "qualified yes": no restriction in noncontact sports, and individual assessment for limited-contact, contact, and collision sports. Recent trauma data suggest that classification according to the degree of contact is inaccurate. We propose an updated, data-driven classification of sports or recreation according to the risk of high-grade renal trauma or loss of renal unit. Given the paucity of literature on the topic and lack of consensus, children with congenital renal anomalies should exercise caution in both sports and recreation. Copyright © 2016 Elsevier Inc. All rights reserved.

Deviant early pregnancy maternal triglyceride levels and increased risk of congenital anomalies: a prospective community-based cohort study.

PubMed

Nederlof, M; de Walle, H E K; van Poppel, M N M; Vrijkotte, T G M; Gademan, M G J

2015-08-01

The maternal lipid profile could be of importance in congenital anomaly development. This study therefore investigates whether the maternal lipid profile during early pregnancy is associated with major nonsyndromic congenital anomalies (MNCA). Prospective community-based cohort study. Amsterdam Born Children and their Development (ABCD) study. A cohort of 3074 pregnant women recruited in 2003-2004 and their offspring. Non-fasting blood samples from pregnant women participating in the ABCD-study (median 12.9 weeks of gestation) were analysed for triglycerides (TG), cholesterol (TC), free fatty acids (FFA), apolipoprotein B (ApoB), and apolipoprotein A1 (ApoA) (n = 3074). The perinatal outcome (MNCA) was obtained from the Youth Health Care Registration and two questionnaires. Adjustment was made for ethnicity. MNCA prevalence. The prevalence of MNCA was 2.2% (n = 68: 20 cardiovascular, 25 bone and muscle, and 23 other single anomalies). A nonlinear association was found between maternal TG levels and MNCA prevalence. With a lower or higher level of maternal TG, the estimated probability increased: a TG level of 0.73 mmol/l (5th percentile), of 1.28 mmol/l (50th percentile), and of 2.35 mmol/l (95th percentile) corresponded with an estimated probability of 3.6, 2.1, and 2.9%, respectively. Unadjusted subgroup analyses showed that the U-shaped association was most prominent for cardiovascular congenital anomalies. Other lipids were not associated with MNCA. Both low and high maternal TG levels during early pregnancy were associated with an increased risk of MNCA in offspring. This suggests that an attempt should be made to normalise TG levels before or during early pregnancy; however, replication of our results is necessary before clinical practice recommendations can be made. © 2015 Royal College of Obstetricians and Gynaecologists.

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

PubMed

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

2015-01-01

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

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

PubMed

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

2015-01-01

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

Abnormalities associated with congenital scoliosis: a retrospective study of 226 Chinese surgical cases.

PubMed

Shen, Jianxiong; Wang, Zijia; Liu, Jiaming; Xue, Xuhong; Qiu, Guixing

2013-05-01

Retrospective study of a series of 226 consecutive Chinese patients with congenital scoliosis. To identify the incidence of intraspinal abnormalities and other organ defects in surgical patients with congenital scoliosis in Chinese population. Previous studies have revealed high rates of intraspinal anomalies and other organ defects in patients with congenital scoliosis. The incidence of abnormalities in patients with congenital scoliosis in Chinese population has not been reported. A total of 226 patients with congenital scoliosis underwent surgical treatment in Peking Union Medical College Hospital between January 2005 and March 2011 were identified. A definitive diagnosis of congenital scoliosis for all patients was made. Complete data were reviewed, including medical records, plain radiograph, magnetic resonance (MR) image of the whole spine, echocardiography, and renal ultrasound. The incidence of intraspinal abnormalities and other organ defects were analyzed. Intraspinal abnormalities were found in 99 (43%) patients. Diastematomyelia was identified to be the most common intraspinal pathological anomaly, which was different from the previous reports. The incidence of intraspinal anomaly in patients with failures of segmentation and mixed defects were significantly higher than those with failures of formation. Patients with thoracic hemivertebrae were found to have a higher incidence of intraspinal abnormalities than patients with lumbar hemivertebrae. Patients with intraspinal abnormality had a higher incidence of positive clinical findings than those with normal magnetic resonance imaging. However, the difference between the 2 groups was not statistically significant. Other organic defects were found in 91(40%) patients. Cardiac defects were detected in 18%, urogenital anomalies in 12%, and gastrointestinal anomalies in 5% of the patients in this study. Diastematomyelia was found to be the most common intraspinal pathological anomaly and cardiac defects were

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

PubMed

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

2017-07-01

The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having USH. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was performed to determine the ocular phenotype. All the cases had undergone ocular examination and electroretinogram (ERG). Patients with an abnormal ERG underwent genetic testing for USH. We found an underlying ocular abnormality in 81.81% (27/33) of cases; of which 75% had refractive errors, and 50% of those patients showed visual improvement with refractive correction. A total of 14 cases (42.42%; 14/33) had generalized rod-cone dysfunction on ERG suggestive of Usher syndrome type 1, confirmed by mutational analysis. This work shows that adding vestibular impairment as a criterion for requesting an eye exam and adding the ERG to detect USH increases the chances of detecting ocular anomalies, when compared with previous literature focusing only on congenital SNHL. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

PubMed

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

2015-01-01

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

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

A systematic review of prenatal screening for congenital heart disease by fetal electrocardiography.

PubMed

Verdurmen, Kim M J; Eijsvoogel, Noortje B; Lempersz, Carlijn; Vullings, Rik; Schroer, Christian; van Laar, Judith O E H; Oei, S Guid

2016-11-01

Congenital heart disease (CHD) is the most common severe congenital anomaly worldwide. Diagnosis early in pregnancy is important, but the detection rate by two-dimensional ultrasonography is only 65%-81%. To evaluate existing data on CHD and noninvasive abdominal fetal electrocardiography (ECG). A systematic review was performed through a search of the Cochrane Library, PubMed, and Embase for studies published up to April 2016 using the terms "congenital heart disease," "fetal electrocardiogram," and other similar keywords. Primary articles that described changes in fetal ECG among fetuses with CHD published in English were included. Outcomes of interest were changes in fetal ECG parameters observed for fetuses with congenital heart disease. Findings were reported descriptively. Only five studies described changes observed in the fetal electrocardiogram for fetuses with CHD, including heart rate, heart rate variability, and PR, QRS, and QT intervals. Fetal ECG reflects the intimate relationship between the cardiac nerve conduction system and the structural morphology of the heart. It seems particularly helpful in detecting the electrophysiological effects of cardiac anatomic defects (e.g. hypotrophy, hypertrophy, and conduction interruption). Fetal ECG might be a promising clinical tool to complement ultrasonography in the screening program for CHD. Copyright © 2016 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

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

PubMed Central

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

2009-01-01

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

Patent ductus arteriosus associated with congenital anomaly of coronary artery.

PubMed

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

2013-11-01

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

Diagnosis and clinical characteristics of congenital anosmia: case series report.

PubMed

Qu, Qiuyi; Liu, Jianfeng; Ni, Daofeng; Zhang, Qiuhang; Yang, Dazhang; Wang, Naya; Wu, Xueyan; Han, Honglei

2010-12-01

congenital anosmia is extremely rare and tends to present late. We report on a series of patients with congenital anosmia to analyze its clinical characteristics and present illustrative cases. retrospective chart review. tertiary care centre. thirty-five patients with congenital anosmia were reviewed. A thorough medical history taking, physical examination, and nasal endoscopy were performed in all patients. T&T olfactory testing (n = 33), olfactory event-related potentials (OERPs) (n = 33), and sinonasal computed tomography (CT) (n = 35) were carried out. Magnetic resonance images (MRIs) of the olfactory pathway (n = 34) were available. Serum sex hormones were tested (n = 33). physical examination, olfactory testing, MRI of the olfactory pathway, and serum sex hormones. twenty cases were isolated congenital anosmia (ICA). Fifteen cases were congenital anosmia with other anomalies, including 12 cases with Kallmann syndrome (KS), two with CHARGE syndrome, and one with hypoplasia of the nasal cavity and nasal sinus. T&T olfactory testing indicated anosmia (n = 33). No OERP was obtained (n = 33). CT scans indicated three abnormal patients, including two with unilateral choanal atresia and one with hypoplasia of the nasal cavity and sinus. MRI demonstrated aplasia or hypoplasia of the olfactory bulbs, tracts, and olfactory sulci (n = 34). Serum sex hormones were low in 12 patients with KS. early diagnosis of congenital anosmia on the basis of olfactory symptoms is difficult. MRI of the olfactory pathway plays an important role in anatomic location. ICA is the most common congenital anosmia. KS is the primary presentation of congenital anosmia with other anomalies.

Canine congenital portosystemic shunts: Disconnections dissected.

PubMed

Van den Bossche, L; van Steenbeek, F G

2016-05-01

Canine congenital portosystemic shunts (CPSS) are vascular anomalies that connect the portal vein with the systemic circulation, therefore bypassing the hepatic parenchyma. Portosystemic shunts exist in two different subtypes: extrahepatic and intrahepatic. This congenital disorder is also described in mice, cat, sheep and man. Research has been focused on pathophysiology, diagnostics and treatment of CPSS and this has resulted in increased knowledge, although the aetiology of the disease remains unclear. This review focuses on the aetiology and genetic basis of both intra- and extrahepatic shunts. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

PubMed

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

2011-01-01

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

Coexistence of bilateral first and second branchial arch anomalies

PubMed Central

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

2013-01-01

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

Congenital Abnormalities

MedlinePlus

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

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.

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

PubMed

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

2014-10-01

An accessory penis is a very rare anomaly. Only five cases have been reported thus far to our knowledge. We present the case of a child aged 2 years and 10 months who had a penis-like structure (containing phallus and glans) attached to the right buttock. Associated anomalies were a non-communicating type of colonic duplication, a paramedian stenosed anal opening, a horse-shoe kidney, posterior urethral valves, scoliosis of the lumbo-sacral spine, polydactyly and equino-varus deformity of the right foot. As far as we can tell, this is the first report of an accessory penis associated with colonic duplication and other congenital anomalies. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Computed tomography and magnetic resonance imaging of multiple focal nodular hyperplasias of the liver with congenital absence of the portal vein in a Chinese girl: case report and review of the literature.

PubMed

Zhang, Kun; Wang, Qingjun; Wang, Haiyi; Ye, Huiyi; Guo, Aitao; Duan, Weidong

2014-11-26

Patients with congenital absence of the portal vein (CAPV) often suffer from additional medical complications such as hepatic tumors and cardiac malformations. Congenital absence of the portal vein (CAPV) is a rare malformation. We present a case of a 16-year-old Chinese girl with CAPV with multiple pathology-proven hepatic focal nodular hyperplasias (FNHs) and ventricular septal defect (VSD). The CT and MRI features of this case are described, and previously reported cases are reviewed. CAPV is a rare congenital anomaly and in such patients, clarifying the site of portosystemic shunts, liver disease, and other anomalies is critical for appropriate treatment selection and accurate prognosis determination. Close follow-up, including laboratory testing and radiologic imaging, is recommended for all CAPV patients.

A population-based study of prevalence trends and geospatial analysis of hypospadias and cryptorchidism compared with non-endocrine mediated congenital anomalies.

PubMed

Lane, Ciaran; Boxall, James; MacLellan, Dawn; Anderson, Peter A; Dodds, Linda; Romao, Rodrigo L P

2017-06-01

Several reports have suggested an increase in the prevalence of hypospadias and cryptorchidism over the last few decades. Endocrine disruption caused by exposure to environmental chemicals has been postulated as a possible cause. The objectives of our study were: 1) to determine whether the prevalence of hypospadias and cryptorchidism is increasing compared with other congenital anomalies not known to be mediated by endocrine factors; and 2) to perform a geospatial analysis of these congenital malformations looking for clustering that could offer insight into environmental risk factors. Data were obtained from the Nova Scotia ATLEE Perinatal Database containing the perinatal records of all live births in Nova Scotia, Canada since 1988. Records from 1988 to 2013 defined the study cohort. Overall prevalence rates and prevalence trends by year were calculated for hypospadias, cryptorchidism, gastroschisis, and clubfoot. County of residence was collected and spatial autocorrelation testing for clustering was performed for each of the congenital anomalies. There were 258,147 live births during the study period. Overall prevalence rates for the four malformations over the study period were: hypospadias 78 per 10,000 male births, cryptorchidism 75 per 10,000 male births, clubfoot 24 per 10,000 total births, and gastroschisis 4 per 10,000 total births. Incidence rate ratios per year for hypospadias, cryptorchidism, clubfoot, and gastroschisis were 1.00 (0.99-1.01), 0.99 (0.98-1.00), 0.98 (0.97-0.99), and 1.04 (1.04-1.07), respectively. During the study period, the prevalence rates in the region were unchanged for hypospadias, slightly reduced for cryptorchidism and clubfoot, and rising for gastroschisis (Figure). Spatial autocorrelation testing revealed statistically significant clustering for hypospadias (p = 0.03) and cryptorchidism (p = 0.03), while no spatial autocorrelation was observed for the other malformations. Contrary to previous studies we show that

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

PubMed

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

2012-12-01

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

Associated anomalies in cases with esophageal atresia.

PubMed

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

2017-08-01

Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA. © 2017 Wiley Periodicals, Inc.

What's New in Congenital Scoliosis?

PubMed

Pahys, Joshua M; Guille, James T

2018-03-01

36 papers were selected for review based upon new findings. Classic manuscripts on congenital scoliosis are also included to provide sufficient background information. Congenital scoliosis represents a wide range of pathology from the simple, stable hemivertebra to the complex, progressive spinal deformity with chest wall abnormalities and associated cardiac, renal, and neural axis anomalies. This paper reviews the natural history and associated anomalies with congenital scoliosis as well as the most up-to-date classification schemes and various treatment options for the care of this challenging patient population. Level 5.

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…

Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study.

PubMed

Postoev, Vitaly A; Grjibovski, Andrej M; Kovalenko, Anton A; Anda, Erik Eik; Nieboer, Evert; Odland, Jon Øyvind

2016-03-01

Congenital anomalies of the kidney and the urinary tract (CAKUTs) are relatively common birth defects. The combined prevalence in Europe was 3.3 per 1000 in 2012. The risk factors for these anomalies are not clearly identified. The aims of our study were to calculate the birth prevalences of urinary malformations in Murmansk County during 2006 to 2011 and to investigate related prenatal risk factors. The Murmansk County Birth Registry was the primary source of information and our study included 50,936 singletons in the examination of structure, prevalence and proportional distribution of CAKUTs. The multivariate analyses of risk factors involved 39,322 newborns. The prevalence of CAKUTs was 4.0 per 1000 newborns (95% confidence interval [CI], 3.4-4.5) and did not change during the study period. The most prevalent malformation was congenital hydronephrosis (14.2% of all cases). Diabetes mellitus or gestational diabetes (odds ratio [OR] = 4.77; 95% CI, 1.16-19.65), acute infections while pregnant (OR = 1.83; 95% CI, 1.14-2.94), the use of medication during pregnancy (OR = 2.03; 95% CI, 1.44-2.82), and conception during the summer (OR = 1.75; 95% CI 1.15-2.66) were significantly associated with higher risk of CAKUTs. The overall fourfold enhancement of the occurrence of urinary malformations in Murmansk County for the 2006 to 2011 period showed little annual dependence. During pregnancy, use of medications, infections, pre-existing diabetes mellitus, or gestational diabetes were associated with increased risk of these anomalies, as was conception during summer. Our findings have direct applications in improving prenatal care in Murmansk County and establishing targets for prenatal screening and women's consultations. © 2016 Wiley Periodicals, Inc.

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…

Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk.

PubMed

Shanske, Alan L

2012-09-10

Congenital anomalies may be caused by genetic or environmental factors or a combination of both. Oblique facial clefts are very rare congenital deformities. The occurrence of facial clefts and an extremity anomaly suggests a common underlying cause. Lateral oro-ocular clefts do not occur along normal developmental planes and may be part of the amnion disruption complex sequence. Our objective was to report a case of this very event, which also followed an unusual intrauterine exposure and review the literature on the teratogenic risk of efavirenz. We report a case of amniotic rupture sequence after fetal HIV and antiretroviral exposure. Teratogenic exposure has been rarely reported and never after antiretroviral exposure. By reporting and registering more cases, we will be able to better assess the risks such medications pose to the developing fetus. The publication of a single case report has the potential to contribute to our knowledge of the significance of prenatal exposure to antiretrovirals and other medications for common HIV-associated disorders. It also generates a hypothesis that can be tested with further clinical data, animal models and epidemiologic studies.

Novel presentation of a fourth branchial cleft anomaly in a male infant.

PubMed

Evans, Seth H; Marinello, Mark; Dodson, Kelley M

2010-01-01

Fourth branchial cleft anomalies are rare congenital disorders of the neck. We describe a case involving a unique presentation of this entity as well as a review of the literature concerning its management. Copyright (c) 2010 Elsevier Inc. All rights reserved.

[Neonatal tumours and congenital malformations].

PubMed

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

2008-06-01

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

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tosun, Ozgur; Sanlidilek, Umman; Cetin, Huseyin

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.

Second branchial cleft anomaly with an ectopic tooth: a case report.

PubMed

Alyono, Jennifer C; Hong, Paul; Page, Nathan C; Malicki, Denise; Bothwell, Marcella R

2014-09-01

Branchial cleft cysts, sinuses, and fistulas are the most common congenital lateral neck lesions in children. They arise as a result of an abnormal development of the branchial arches and their corresponding ectoderm-lined branchial clefts. Of these diverse anomalies, second branchial cleft lesions are the most common, accounting for approximately 95% of all branchial arch pathologies. We describe what is to the best of our knowledge the first reported case of an ectopic tooth in a branchial cleft anomaly. The patient was a young girl who had other congenital abnormalities and syndromic features and who was eventually diagnosed with Townes-Brocks syndrome. We describe the clinical presentation, management, pathologic analysis, and postoperative outcomes of this case, and we present a brief review of Townes-Brocks syndrome.

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

PubMed

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

2016-01-01

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

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

PubMed

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

2018-01-01

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

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

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

Prevalence of dental anomalies in Indian population.

PubMed

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

2013-10-01

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

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

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.

The "boomerang" malleus-incus complex in congenital aural atresia.

PubMed

Mukherjee, S; Kesser, B W; Raghavan, P

2014-01-01

"Boomerang" malleus-incus fusion deformity is identified on axial high-resolution CT in a subset of patients with congenital aural atresia, and it is associated with an absent incudostapedial joint and stapes capitulum and attachment of the incus to the tympanic segment of the facial nerve canal. Twelve patients with this deformity were identified on a retrospective review of imaging from a cohort of 673 patients with congenital aural atresia, with surgical confirmation in 9 of these patients. Eight of 9 patients underwent partial ossicular replacement prosthesis reconstruction with improvement in hearing outcome. We hypothesize that the boomerang anomaly represents a more severe ossicular anomaly than is normally seen in congenital aural atresia, arising from an arrest earlier in the embryonic development of the first and second branchial arch. This has potentially important implications for surgical planning because hearing outcomes with placement of prosthesis may not be as good as with conventional atresia surgery, in which reconstruction is performed with the patient's native ossicular chain. © 2014 by American Journal of Neuroradiology.

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

PubMed

Donahue, M L; Ryan, R M

1995-03-13

We describe an infant with a deletion of 8q21-->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 "carp-shaped" 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.

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

PubMed

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

2013-05-15

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

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

PubMed Central

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

2013-01-01

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

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

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hamel, B.C.J.; Mariman, E.C.M.; Beersum, S.E.C. van

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 ismore » 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.« less

Congenital portosystemic venous connections and other abdominal venous abnormalities in patients with polysplenia and functionally univentricular heart disease: a case series and literature review.

PubMed

McElhinney, Doff B; Marx, Gerald R; Newburger, Jane W

2011-01-01

Published case reports suggest that congenital portosystemic venous connections (PSVC) and other abdominal venous anomalies may be relatively frequent and potentially important in patients with polysplenia syndrome. Our objective was to investigate the frequency and range of portal and other abdominal systemic venous anomalies in patients with polysplenia and inferior vena cava (IVC) interruption who underwent a cavopulmonary anastomosis procedure at our center, and to review the published literature on this topic and the potential clinical importance of such anomalies. Retrospective cohort study and literature review were used. Among 77 patients with heterotaxy, univentricular heart disease, and IVC interruption who underwent a bidirectional Glenn and/or modified Fontan procedure, pulmonary arteriovenous malformations were diagnosed in 33 (43%). Bilateral superior vena cavas were present in 42 patients (55%). Despite inadequate imaging in many patients, a partial PSVC, dual IVCs, and/or renal vein anomalies were detected in 15 patients (19%). A PSVC formed by a tortuous vessel running from the systemic venous system to the extrahepatic portal vein was found in six patients (8%). Abdominal venous anomalies other than PSVC were documented in 13 patients (16%), including nine (12%) with some form of duplicated IVC system, with a large azygous vein continuing to the superior vena cava and a parallel, contralateral IVC of similar or smaller size, and seven with renal vein anomalies. In patients with a partial PSVC or a duplicate IVC that connected to the atrium, the abnormal connection allowed right-to-left shunting. PSVC and other abdominal venous anomalies may be clinically important but under-recognized in patients with IVC interruption and univentricular heart disease. In such patients, preoperative evaluation of the abdominal systemic venous system may be valuable. More data are necessary to determine whether there is a pathophysiologic connection between the

Congenital rubella syndrome: a review of laboratory data from 2002 to 2011.

PubMed

Saraswathy, T S; Rozainanee, M Z; Asshikin, R Nurul; Zainah, S

2013-05-01

Rubella infection in pregnant women during the first trimester of pregnancy can lead to fetal anomalies, commonly known as congenital rubella syndrome (CRS). The objective of our study was to analyze the serological test results among infants suspected of having CRS aged < or = 12 months compared with their clinical status. Between January 2002 and December 2011, 3,279 serum samples from infants aged < or = 12 months from government hospitals in Malaysia were examined for rubella specific IgM and IgG antibodies using a Axsym, automated analyzer (Abbott Laboratories). Forty-eight samples were positive for rubella specific IgM antibodies and 494 samples were positive for rubella specific IgG antibodies. These were then age stratified and their clinical history reviewed for any CRS symptoms. Fifteen of 38 rubella IgM positive infants (39.5%) aged < 3 months, had a clinical appearance compatible with CRS. However, only 1 IgM positive infant aged 3 to 6 months and one infant aged 7 to 11 months had clinical appearance compatible with CRS. The most common abnormal findings in these cases were congenital heart defects and cataracts. Forty-eight point eight percent of IgM positive cases and 53.1% of IgG positive cases, had inadequate information in the chart to determine the presence of CRS. Clinical findings and timely laboratory diagnosis to determine the presence of CRS are important in infants born with congenital defects. Physicians should also be aware of the appropriate interpretation of these findings.

Common dental anomalies in cleft lip and palate patients.

PubMed

Haque, Sanjida; Alam, Mohammad Khursheed

2015-01-01

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

Congenital intrahepatic portohepatic shunt managed by interventional radiologic occlusion: a case report and literature review.

PubMed

Grimaldi, Chiara; Monti, Lidia; Falappa, Piergiorgio; d'Ambrosio, Giuseppe; Manca, Antonio; de Ville de Goyet, Jean

2012-02-01

Congenital intrahepatic portosystemic shunts are rare hepatic vascular anomalies that often lead to severe secondary conditions. A 6-year-old boy was referred for assessment of severe hypoxia, and a large liver mass was diagnosed with such a malformation and was managed by direct closure of the venous fistula by interventional radiology. Follow-up assessment shows normalization of the respiratory condition and a progressive reduction of the vascular liver lesion. Review of literature suggests that radiologic interventions are currently the criterion standard for managing these conditions, with surgery reserved for patients who are not eligible for radiologic procedure and those requiring liver transplantation. Copyright © 2012 Elsevier Inc. All rights reserved.

The Public Recognizes Plastic Surgeons as Leading Experts in the Treatment of Congenital Cleft and Craniofacial Anomalies.

PubMed

Denadai, Rafael; Samartine Junior, Hugo; Denadai, Rodrigo; Raposo-Amaral, Cassio Eduardo

2015-11-01

The aim of this study is to assess the public perception of plastic surgeons (PS) as craniofacial surgery specialists. Members of the public (N = 1514) were asked to choose 1 or 2 specialists that they perceived to be an expert for 13 craniofacial surgery-related scenarios. Response patterns were distributed as "plastic surgeon alone" (PS alone), "PS combined with other specialists", or "no plastic surgeon" (No PS). Sociodemographic data, previous plastic surgery contact, and source of reported information were also collected. "Plastic surgeon alone" was significantly (all P < 0.05) more recognized as experts than all other response patterns particularly in congenital anomalies-related scenarios (83.33%). There was a significantly (all P < 0.05) poor understanding of the role of PSs in head/neck infection management, chronic facial palsy management, dental disease management, head and neck cancer surgery, vascular malformation surgery, and facial fracture surgery. Sex, age, education level, health care professional, prior plastic surgery contact, and source of reported information were not significant (all P < 0.05) determinants of "PS" as the response in bivariate and multivariate analyses. Public recognized PSs as experts primarily in treatment of congenital cleft and craniofacial anomalies, but as the overall scope of craniofacial surgery practice was poorly understood and known, improved public education is needed.

Congenital Lung Agenesis: Incidence and Outcome in the North of England.

PubMed

Thomas, Matthew; Robertson, Nic; Miller, Nicola; Rankin, Judith; McKean, Michael; Brodlie, Malcom

2017-07-03

Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management. Four patients with congenital lung agenesis were born during the study period, giving an estimated incidence in the North of England of 1.22 per 100,000 live births (95% confidence interval, 0.33-3.11). Two patients had associated congenital heart disease requiring corrective surgery, and one had musculoskeletal anomalies. All four patients are alive and well without a regular oxygen requirement. Contrary to previous reports, the medium term outcomes in our patients have been good, even when lung agenesis is associated with other congenital anomalies. Long-term prognosis with modern management remains unknown, and the potential for the development of pulmonary hypertension remains a concern. Birth Defects Research 109:857-859, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.

PubMed

Sadick, Maliha; Müller-Wille, René; Wildgruber, Moritz; Wohlgemuth, Walter A

2018-06-06

 Vascular anomalies are a diagnostic and therapeutic challenge. They require dedicated interdisciplinary management. Optimal patient care relies on integral medical evaluation and a classification system established by experts in the field, to provide a better understanding of these complex vascular entities.  A dedicated classification system according to the International Society for the Study of Vascular Anomalies (ISSVA) and the German Interdisciplinary Society of Vascular Anomalies (DiGGefA) is presented. The vast spectrum of diagnostic modalities, ranging from ultrasound with color Doppler, conventional X-ray, CT with 4 D imaging and MRI as well as catheter angiography for appropriate assessment is discussed.  Congenital vascular anomalies are comprised of vascular tumors, based on endothelial cell proliferation and vascular malformations with underlying mesenchymal and angiogenetic disorder. Vascular tumors tend to regress with patient's age, vascular malformations increase in size and are subdivided into capillary, venous, lymphatic, arterio-venous and combined malformations, depending on their dominant vasculature. According to their appearance, venous malformations are the most common representative of vascular anomalies (70 %), followed by lymphatic malformations (12 %), arterio-venous malformations (8 %), combined malformation syndromes (6 %) and capillary malformations (4 %).  The aim is to provide an overview of the current classification system and diagnostic characterization of vascular anomalies in order to facilitate interdisciplinary management of vascular anomalies.   · Vascular anomalies are comprised of vascular tumors and vascular malformations, both considered to be rare diseases.. · Appropriate treatment depends on correct classification and diagnosis of vascular anomalies, which is based on established national and international classification systems, recommendations and guidelines.. · In the classification

Identification of Biomarkers for Patients With Vascular Anomalies

ClinicalTrials.gov

2018-02-12

Vascular Anomaly; Generalized Lymphatic Anomaly; Kaposiform Hemangioendothelioma; Kaposiform Lymphangiomatosis; Gorham-Stout Disease; Klippel Trenaunay Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

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

PubMed

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

2018-02-01

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

Congenital anomalies, prematurity, and low birth weight rates in relation to nuclear power plant proximity1).

PubMed

Mangones, Tania; Visintainer, Paul; Brumberg, Heather L

2013-07-01

The objective of this study was to determine whether maternal residential proximity to a nuclear reactor is associated with prevalence of certain birth defects. The New York State Vital Statistics and Congenital Malformations Registry data (1992-2001) were analyzed for five Hudson Valley counties in a 20-mile radius from the Indian Point nuclear reactor (Buchanan, NY, USA). Four zones of 5-mile increments were used to categorize proximity to the reactor. Data included congenital anomalies, low birth weight, and prematurity. Over the 10-year period, 702 malformations in 666 children were identified from a birth population of 328,124, yielding a regional rate of 2.1 major malformations per 1000 births. The prevalence of defects, low birth weight, and prematurity were not related to proximity to the nuclear power plant. These data did not substantiate an association between maternal proximity to the reactor and certain birth defects and provide baseline data for comparison in the event of a nuclear accident.

Congenital Spondylolytic Spondylolisthesis of C2 Vertebra Associated With Atlanto-Axial Dislocation, Chiari Type I Malformation, and Anomalous Vertebral Artery: Case Report With Review Literature.

PubMed

Sardhara, Jayesh; Pavaman, Sindgikar; Das, Kuntal; Srivastava, Arun; Mehrotra, Anant; Behari, Sanjay

2016-11-01

Congenital spondylolytic spondylolisthesis of C2 vertebra resulting from deficient posterior element of the axis is rarely described in the literature. We describe a unique case of agenesis of posterior elements of C2 with craniovertebral junction anomalies consisting of osseous, vascular, and soft tissue anomalies. A 26-year-old man presented with symptoms of upper cervical myelopathy of 12 months' duration. A computed tomography scan of the cervical spine including the craniovertebral junction revealed spondylolisthesis of C2 over C3, atlantoaxial dislocation, occipitalization of the atlas, hypoplasia of the odontoid, and cleft posterior C1 arch. Additionally, the axis vertebra was found devoid of its posterior elements except bilaterally rudimentary pedicles. Magnetic resonance imaging revealed tonsilar herniation, suggesting associated Chiari type I malformation. CT angiogram of the vertebral arteries displayed persistent bilateral first intersegmental arteries crossing the posterior aspect of the C1/2 facet joint. This patient underwent foramen magnum decompression, C3 laminectomy with occipito-C3/C4 posterior fusion using screw and rod to maintain the cervical alignment and stability. We report this rare constellation of congenital craniovertebral junction anomaly and review the relevant literature. Copyright © 2016 Elsevier Inc. All rights reserved.

Congenital portosystemic vascular malformations.

PubMed

Guérin, Florent; Blanc, Thomas; Gauthier, Frédéric; Abella, Stephanie Franchi; Branchereau, Sophie

2012-08-01

Congenital portosystemic shunts are developmental abnormalities of the portal venous system resulting in the diversion of portal blood away from the liver to the systemic venous system. Such malformations are believed to come from an insult occurring between the fourth and eighth week of gestation during the development of hepatic and systemic venous systems, and could explain their frequent association with cardiac and other vascular anomalies. They are currently categorized into end-to-side shunts (type I) or side-to-side shunts (type II). This article aims to review the common symptoms and complications encountered in congenital portosystemic shunts, the surgical and endovascular treatment, and the role of liver transplantation in this disease. We will also focus on the current controversies and the areas where there is potential for future studies. Copyright © 2012. Published by Elsevier Inc.

Paediatric-onset coronary artery anomalies in pregnancy: a single-centre experience and systematic literature review.

PubMed

Keir, Michelle; Bhagra, Catriona; Vatenmakher, Debra; Arancibia-Galilea, Francisca; Jansen, Katrijn; Toh, Norihisa; Silversides, Candice K; Colman, Jack; Siu, Samuel C; Sermer, Mathew; Crean, Andrew M; Wald, Rachel M

2017-10-01

Individuals with childhood-onset coronary artery anomalies are at increased risk of lifelong complications. Although pregnancy is thought to confer additional risk, a few data are available regarding outcomes in this group of women. We sought to define outcomes of pregnancy in this unique population. We performed a retrospective survey of women with paediatric-onset coronary anomalies and pregnancy in our institution, combined with a systematic review of published cases. We defined paediatric-onset coronary artery anomalies as congenital coronary anomalies and inflammatory arteriopathies of childhood that cause coronary aneurysms. Major cardiovascular events were defined as pulmonary oedema, sustained arrhythmia requiring treatment, stroke, myocardial infarction, cardiac arrest, or death. A total of 25 surveys were mailed, and 20 were returned (80% response rate). We included 46 articles from the literature, which described cardiovascular outcomes in 82 women (138 pregnancies). These data were amalgamated for a total of 102 women and 194 pregnancies; 59% of women were known to have paediatric-onset coronary artery anomalies before pregnancy. In 23%, the anomaly was unmasked during or shortly after pregnancy. The remainder, 18%, was diagnosed later in life. Major cardiovascular events occurred in 14 women (14%) and included heart failure (n=5, 5%), myocardial infarction (n=7, 7%), maternal death (n=2, 2%), cardiac arrest secondary to ventricular fibrillation (n=1, 1%), and stroke (n=1, 1%). The majority of maternal events (13/14, 93%) occurred in women with no previous diagnosis of coronary disease. Women with paediatric-onset coronary artery anomalies have a 14% risk of adverse cardiovascular events in pregnancy, indicating the need for careful assessment and close follow-up. Prospective, multicentre studies are required to better define risk and predictors of complications during pregnancy.

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

PubMed

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

2015-01-01

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

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…

Contemporary epidemiological trends in complex congenital genitourinary anomalies.

PubMed

Lloyd, Jessica C; Wiener, John S; Gargollo, Patricio C; Inman, Brant A; Ross, Sherry S; Routh, Jonathan C

2013-10-01

Anecdotal evidence suggests that complex congenital genitourinary anomalies are occurring less frequently. However, few epidemiological studies are available to confirm or refute this suggestion. The Kids' Inpatient Database (KID) is a national, all payer database of several million inpatient pediatric hospitalizations per year, including complicated and uncomplicated in-hospital births. We reviewed the 1997 to 2009 KID to determine the birth prevalence of spina bifida, posterior urethral valves, bladder exstrophy, epispadias, prune belly syndrome, ambiguous genitalia and imperforate anus. For posterior urethral valves and prune belly syndrome we limited our search to newborn males only. During the study period, there was a diagnosis of spina bifida in 3,413 neonates, bladder exstrophy in 214, epispadias in 1,127, ambiguous genitalia in 726, prune belly syndrome in 180, posterior urethral valves in 578 and imperforate anus in 4,040. We identified no significant change in the birth prevalence of spina bifida (from 33.9 new spina bifida births of 100,000 uncomplicated births to 29.0/100,000, p = 0.08), posterior urethral valves (from 10.4/100,000 to 11.0/100,000, p = 0.51), prune belly syndrome (from 4.8/100,000 to 3.3/100,000, p = 0.44) or ambiguous genitalia (from 5.82/100,000 to 5.87/100,000, p = 0.38). There was a significant decrease in the birth prevalence of bladder exstrophy (from 2.4/100,000 to 1.6/100,000 uncomplicated births, p = 0.01) and a significant increase in epispadias (from 8.0/100,000 to 11.6/100,000) and imperforate anus (from 33.6/100,000 to 35.0/100,000, each p = 0.04) during the study period. The birth prevalence of spina bifida, posterior urethral valves and prune belly syndrome appears to have been stable in the last 12 years. Epispadias, ambiguous genitalia and imperforate anus diagnoses in newborns became more common in the same period, while bladder exstrophy diagnoses became less common. Copyright © 2013 American Urological Association

Congenital heart defects in Williams syndrome.

PubMed

Yuan, Shi-Min

2017-01-01

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

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

PubMed Central

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

2015-01-01

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

Congenital portosystemic shunts: imaging findings and clinical presentations in 11 patients.

PubMed

Konstas, Angelos A; Digumarthy, Subba R; Avery, Laura L; Wallace, Karen L; Lisovsky, Mikhail; Misdraji, Joseph; Hahn, Peter F

2011-11-01

To evaluate the clinical anatomy and presentations of congenital portosystemic shunts, and determine features that promote recognition on imaging. Institutional review board approval was obtained for this HIPAA-compliant study. The requirement for written informed consent was waived. Radiology reports were retrospectively reviewed from non-cirrhotic patients who underwent imaging studies from January 1999 through February 2009. Clinical sources reviewed included electronic medical records, archived images and histopathological material. Eleven patients with congenital portosystemic shunts were identified (six male and five female; age range 20 days to 84 years). Seven patients had extrahepatic and four patients had intrahepatic shunts. All 11 patients had absent or hypoplastic intrahepatic portal veins, a feature detected by CT and MRI, but not by US. Seven patients presented with shunt complications and four with presentations unrelated to shunt pathophysiology. Three adult patients had four splenic artery aneurysms. Prospective radiological evaluation of five adult patients with cross-sectional imaging had failed prospectively to recognize the presence of congenital portosystemic shunts on one or more imaging examinations. Congenital portosystemic shunts are associated with splenic artery aneurysms, a previously unrecognized association. Portosystemic shunts were undetected during prospective radiologic evaluation in the majority of adult patients, highlighting the need to alert radiologists to this congenital anomaly. Copyright © 2010. Published by Elsevier Ireland Ltd.

[Congenital syphillis presenting congenital nephrotic syndrome in two children and related data review].

PubMed

Xiao, Hui-jie; Liu, Jing-cheng; Zhong, Xu-hui

2011-12-18

To study the clinical features of congenital syphillis presenting congenital nephrotic syndrome (CNS) in children. Two cases diagnosed as congenital syphillis presenting CNS in our hospital were retrospectively analyzed and related data reviewed. The two children had edema, gross proteinuria, haematuria, hepatosplenomegaly, abdominal distention and anaema. Rapid plasmin regain (RPR) and treponema palidum hemagglutination assay (TPHA) were all positive. One chiild was also had renal biopsy and showed membraous nephropathy. Adequate penicillin therapy got satisfatory effects without steroid treatment. For children with early occurrence of proteinuria, edema accompanied by anaema, and hepatosplenomegaly, we should conside the possibility of syphillis nephropathy, which should be treated with enough dosage of penicillin in instead of steroid. Early diagnosis and treatmen could get complete recovery of CNS.

Multiple tooth anomalies in a nonsyndromic patient with class II division 2 malocclusions: A case report and a literature review.

PubMed

Isman, E; Isman, O; Aktan, A M; Ciftci, E; Topcuoglu, T

2015-01-01

Reports in the literature about the craniofacial characteristics of patients with class II division 2 malocclusions show a lot of different patterns accompanied by palatally displaced upper incisors, congenital missing teeth, polydiastema, fusion, germination, tooth impaction, peg-shaped lateral incisors, persistent teeth, hypodontia, persistent deciduous teeth, transpositions, and supernumerary teeth. The following case report focuses on the description of the clinical characteristics observed on a patient with a very unusual conjunction of dental and skeletal anomalies mentioned above, as well as a literature review on the related issues. Extra-intra-oral examinations, radiographic evaluations, orthodontic consultation, and reviewing the literature concluded that this nonsyndromic patient that refused to receive all dental treatment approaches is special with its uniqueness.

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

PubMed

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

2015-10-01

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

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

PubMed

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

2016-08-01

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

Congenital Morgagni's hernia: a national multicenter study.

PubMed

Al-Salem, Ahmed H; Zamakhshary, Mohammed; Al Mohaidly, Mohammed; Al-Qahtani, Aayed; Abdulla, Mohamed Ramadan; Naga, Mohamed Ibrahim

2014-04-01

Congenital Morgagni's hernia (CMH) is rare and represents less than 5% of all congenital diaphragmatic hernias. This is a national review of our experience with CMH outlining clinical presentation, methods of diagnosis, associated anomalies, treatment, and outcome. The medical records of all patients with the diagnosis of CMH treated at four pediatric surgery units in Saudi Arabia were retrospectively reviewed for age at diagnosis, sex, presenting symptoms, associated anomalies, diagnosis, operative findings, treatment, and outcome. During a 20-year period (January 1990-December 2010), 53 infants and children with CMH were treated. There were 38 males and 15 females. Their age at diagnosis ranged from 1 month to 9 years (mean 22.2 months). Forty-three (81%) presented with recurrent chest infection. Twenty-two (44.5%) had right CMH, 15 (28.3%) had left-sided hernia and 16 (30.2%) had bilateral hernia. In 7, the diagnosis of bilaterality was made at the time of surgery. Associated anomalies were seen in 38 (71.7%). Twenty-one (39.6%) had congenital heart disease, 8 (15%) had malrotation, and 15 (28.3%) had Down syndrome. All were operated on. Twenty-nine (54.7%) underwent repair via an open approach. The remaining 24 (45.3%) underwent repair using minimal invasive surgery, laparoscopic-assisted hernia repair (19 patients) or totally laparoscopic approach (5 patients). At the time of surgery, the hernia sac content included the colon in 33 (62.3%), part of the left lobe of the liver in 13 (24.5%), the small intestines in 11 (20.75%), the omentum in 5 (9.4%), and the stomach in 4 (7.5%). In 12 (22.6%), the hernia sac was empty. When compared to the open repair, the laparoscopic-assisted approach was associated with a shorter operative time, an earlier commencement of feeds, less requirement for postoperative analgesia, a shorter hospital stay, and better cosmetic appearance. There was no mortality. On follow-up, 2 (7%) of the open surgical group developed recurrence

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

PubMed

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

2014-12-01

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

Association between congenital anomalies and paternal exposure to agricultural pesticides depending on mother's employment status.

PubMed

Ronda, Elena; Regidor, Enrique; García, Ana M; Domínguez, Vicente

2005-08-01

We analyzed the association between fetal death from congenital anomalies and paternal agricultural occupation in mothers who were employed and in housewives. The data consist of individual records from the Spanish Birth Register (1995-1999). The adjusted relative risk of fetal death in agricultural workers compared with nonagricultural was 1.24 (95% confidence interval = 0.38- 4.02) in mothers who were employed and 1.68 (95% confidence interval = 1.03-2.73) in housewives. The risk of fetal death in the offspring of agricultural workers exposed to pesticides around the time of conception was higher than in the offspring of nonagricultural workers in mothers who were housewives but not in mothers who worked outside the home.

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

PubMed

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

2011-06-01

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

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

PubMed Central

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

2017-01-01

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

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

PubMed

Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

2013-10-15

Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted. © 2013 Elsevier B.V. All rights reserved.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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 previouslymore » noted three cases, helps in delineating a recognizable syndrome. 12 refs., 3 figs., 1 tab.« less

Congenital cervical cysts, sinuses, and fistulae in pediatric surgery.

PubMed

LaRiviere, Cabrini A; Waldhausen, John H T

2012-06-01

Congenital cervical anomalies are essential to consider in the clinical assessment of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies and dermoid cysts. Other lesions reviewed include median ectopic thyroid, cervical teratomas, and midline cervical clefts. Appropriate diagnosis and management of these lesions requires a thorough understanding of their embryology and anatomy. Correct diagnosis, resolution of infectious issues before definitive therapy, and complete surgical excision are imperative in the prevention of recurrence. Copyright © 2012 Elsevier Inc. All rights reserved.

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

PubMed

Al-Maghribi, Hussein

2007-09-01

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

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

PubMed Central

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

2010-01-01

Purpose The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association, which involves congenital anomalies affecting the vertebrae, anus, heart, trachea and esophagus, kidneys, and limbs. Procedures We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Findings Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. Conclusions There should be a high index of suspicion for the presence of GU anomalies even in patient who do not have spatially similar malformations. PMID:21235632

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

PubMed

Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

2014-05-01

A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog. © 2014 British Small Animal Veterinary Association.

[Associated brachial cleft anomalies in the cat eye syndrome].

PubMed

Avior, Galit; Derowe, Ari; Fliss, Dan M; Leicear-Trejo, Leonor; Braverman, Itzhak

2007-02-01

The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited and represents an inv dup 22 (q11). A two years old female presented to our department with an association of cat eye syndrome with preauricular tags and a first branchial arch anomaly. This article discusses the surgical management and the association between the cat eye syndrome and first branchial cleft anomaly.

The clinical anatomy of congenital portosystemic venous shunts.

PubMed

Stringer, Mark D

2008-03-01

Congenital portosystemic venous shunts are rare. Their gross anatomy has not been well defined. Four different varieties of congenital portosystemic venous shunts are described in six children seen during a 10-year period, focusing on the anatomy of the shunt as determined by imaging studies and surgery. A detailed review of the literature indicates that congenital portosystemic venous shunts are best classified as: extrahepatic or intrahepatic. Extrahepatic shunts may be further subdivided into portocaval shunts (type 1 end-to-side and type 2 side-to-side) and others. Intrahepatic shunts are due to an abnormal intrahepatic connection between the portal vein and hepatic vein/inferior vena cava or a persistent patent ductus venosus. Additional congenital anomalies, particularly cardiac malformations, may be associated with any type. Some congenital intrahepatic portosystemic venous shunts close spontaneously in infancy; all other congenital portosystemic venous shunts tend to remain patent. To a variable extent, depending largely on the volume and duration of the shunt, affected individuals are at risk of developing hepatic encephalopathy and/or an intrahepatic tumor. The key to understanding the pathogenesis of these shunts lies in the normal developmental mechanisms underlying the formation of the portal vein and inferior vena cava in the embryo. Copyright 2008 Wiley-Liss, Inc.

Aberrant tendinous chords with tethering of the tricuspid leaflets: a congenital anomaly causing severe tricuspid regurgitation.

PubMed

Kobza, R; Kurz, D J; Oechslin, E N; Prêtre, R; Zuber, M; Vogt, P; Jenni, R

2004-03-01

To define the entity of tricuspid regurgitation caused by tethering of the tricuspid valve leaflets by aberrant tendinous chords. Retrospective study. Tertiary care centre (university teaching hospital). 10 patients with unexplained severe tricuspid regurgitation. The last 13 500 echocardiographic studies from our facility were reviewed to identify patients with severe unexplained tricuspid regurgitation. Tethering was defined by the presence of aberrant tendinous chords to the tricuspid valve leaflets limiting the mobility of the tricuspid leaflet and resulting in incomplete coaptation and apical displacement of the regurgitant jet origin. Aberrant tendinous chords were defined as those inserting at the clear zone of the tricuspid leaflet and not originating from the papillary muscle. Patients fulfilling the diagnostic criteria for Ebstein's anomaly were excluded. 10 patients with aberrant tendinous chords tethering one or more tricuspid valve leaflets were identified. There were short non-aberrant tendinous chords in seven patients, five of whom also had right ventricular or tricuspid annulus dilatation. Tethering of the tricuspid valve leaflets by aberrant tendinous chords can be the sole mechanism of congenital tricuspid regurgitation. It is often associated with short non-aberrant tendinous chords, which may develop secondary to right ventricular or tricuspid annulus dilatation. Awareness of tethering as a cause of tricuspid regurgitation may be important in planning reconstructive surgery.

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.

Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association.

PubMed

Pini Prato, Alessio; Musso, Marco; Ceccherini, Isabella; Mattioli, Girolamo; Giunta, Camilla; Ghiggeri, Gian Marco; Jasonni, Vincenzo

2009-03-01

Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR). Based on the common genetic background of enteric nervous system and kidney development, the reported association of CAKUT and HSCR seems underestimated. Therefore, we designed a prospective study aimed at determining the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell line-derived neurotrophic factor (GDNF), and GDNF family receptor alpha1 (GFRalpha1) mutations or haplotypes associated with this subset of HSCR patients. Eighty-four HSCR patients consecutively admitted to our department between July 2006 and July 2007 underwent interviews, notes review, ultrasound screening (further investigation according to detected anomaly), urinalysis, and DNA extraction for molecular genetics study. Another 27 patients with isolated CAKUT were included as a control group for the molecular genetics study. Twenty-one patients (25%) with HSCR had associated CAKUT, with hydronephrosis and hypoplasia being the most frequent diagnoses. Nine of 21 CAKUT were symptomatic. Six additional patients had other non-CAKUT anomalies (for example, stones, Barter syndrome) that were excluded from association and molecular genetics analysis to avoid bias of inclusion criteria. RET mutations were found in 5 patients (4 HSCR, 1 HSCR + CAKUT, 0 CAKUT) and GDNF mutations in 3 (2 HSCR, 1 CAKUT, 0 HSCR + CAKUT). No GFRalpha1 mutations were found. Finally, the HSCR-predisposing T haplotype of RET proto-oncogene was found in 64% of HSCR, 50% of HSCR + CAKUT, and in 24% of CAKUT patients. The incidence of CAKUT in HSCR patients is 4- to 6-fold higher than expected. Therefore, a patient with HSCR has a 3- to 18-fold higher risk of developing a CAKUT, particularly hydronephrosis or hypoplasia. If we consider that the proportion of predisposing haplotype in HSCR + CAKUT patients resembles that of other syndromic HSCR, we can conclude that HSCR + CAKUT has to be considered

[Autopsies for fetal anomalies].

PubMed

Kidron, Debora; Eidel, Jouly; Aviram, Rami

2013-06-01

Fetal autopsies are effective in identifying the cause and/or mechanisms leading to death in cases of intrauterine fetal death. Autopsies for fetal anomalies are different. To summarize our experience with 569 autopsies of fetal anomalies which were performed during an 18-year period. A retrospective analysis of 569 autopsies of fetal anomalies was conducted, out of a total of 1067 fetal autopsies. The pregnancy weeks were 14 - 41. Among 569 cases, 88% were termination of pregnancies, 10% intrauterine death and 2% perinatal deaths. The diagnosis of a syndrome or disease process was made when a constellation of gross and/or histologic findings was met. Specific diagnoses were offered in cases of cystic diseases of kidneys, types of dwarfism, tumors and fetal hydrops. Teratogenic (acquired) processes, such as congenital infections, thrombosis and cerebral hemorrhages, were differentiated from malformations. In cases of multiple congenital anomalies, documentation of the entire spectrum of malformations facilitated the genetic counseling. First and foremost, the autopsy is performed in the interest of the parents, with their written consent and in accordance with limitations and requests which they pose. Autopsy results provide feedback to the prenatal imaging. They assist in focusing the genetic counseling. Autopsy reports provide tools of control for the health authorities. Autopsies for fetal anomalies are time consuming. They require skill and experience. They are helpfuL when the prenatal diagnosis raises differential diagnosis. They are Less helpful when the diagnosis is clear, i.e. chromosomal trisomy.

[Congenital esophageal stenosis: diagnosis and treatment. Cases review].

PubMed

Romero Manteola, Enrique J; Ravetta, Pablo; Patiño González, Celeste C; Defago, Víctor H

2018-02-01

Congenital esophageal stenosis is a very rare condition and there is no standard treatment. We report the diagnosis, treatment and outcome of 11 patients with this condition managed at our institution. The most common symptom was dysphagia. The age at diagnosis was between 1 day and 14 years (mean age: 4.7 years). The esophagogram confirmed the diagnosis. Five patients presented associated anomalies. Four patients received surgical treatment and 7 only balloon dilatations. Pathologic examinations showed 3 fibromuscular stenosis and one with tracheobronchial remnants. All patients had a good outcome with a mean follow up of 4.5 years. Balloon dilatations were the definitive treatment in most of the patients. Sociedad Argentina de Pediatría.

Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

PubMed Central

Jin, Hyun-Seok; Kim, Jeonhyun; Kwak, Woori; Jeong, Hyeonsoo; Lim, Gyu-Bin

2017-01-01

Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family. Based on family WES data, we identified a novel BRD4 missense mutation as a candidate causal variant and performed cell-based experiments by ablation of endogenous BRD4 expression in human lens epithelial cells. The protein expression levels of connexin 43, p62, LC3BII, and p53 differed significantly between control cells and cells in which endogenous BRD4 expression was inhibited. We inferred that a BRD4 missense mutation was the likely disease-causing mutation in this family. Our findings may improve the molecular diagnosis of congenital cataracts and support the use of WES to clarify the genetic basis of complex diseases. PMID:28076398

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

PubMed

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

2016-01-01

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

Congenital Anomalies of the Hand--Principles of Management.

PubMed

Little, Kevin J; Cornwall, Roger

2016-01-01

Physicians who specialize in pediatric orthopedics and hand surgery frequently encounter congenital hand abnormalities, despite their relative rarity. The treating physician should be aware of the associated syndromes and malformations that may, in some cases, be fatal if not recognized and treated appropriately. Although these congenital disorders have a wide variability, their treatment principles are similar in that the physician should promote functional use and cosmesis for the hand. This article discusses syndactyly, preaxial polydactyly and post-axial polydactyly, and the hypoplastic thumb. Copyright © 2016 Elsevier Inc. All rights reserved.

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

Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases.

PubMed

Al-Salem, Ahmed H; Abdulla, Mohamed Ramadan; Kothari, Mukul R; Naga, Mohamed Ibrahim

2014-07-01

Congenital pyloric atresia (CPA) is a very rare anomaly. It is usually seen as an isolated condition with excellent prognosis. Few cases are familial. These are usually associated with other hereditary conditions and have a poor prognosis. This is a review of our experience with 20 patients with CPA outlining aspects of diagnosis, associated anomalies and management. This is a retrospective analysis of 20 cases seen over a 22 year period (December 1990 to December 2012). Their records reviewed for: age, sex, presentation, prenatal history, associated anomalies, investigations, treatment, operative findings and the outcome. 20 cases (9 Males, 11 Females) were treated. 7 patients were full term and the remaining 13 were prematures. Their mean birth weight was 2.1 kg (1.1 kg to 3.9 kg). Polyhydramnios was seen in 13 patients (65%). Two were brothers and four were members of the same family. Isolated CPA was seen in 7 (35%); 13 had an associated conditions: epidermolysis bullosa (EB) in 8 (40%) and multiple intestinal atresias (MIA) in 5 (25%). Three patients had associated esophageal atresia. All were operated on except two who died early due to unrelenting sepsis. The variety of pyloric atresias encountered were as follows: pyloric diaphragm in 13 including double diaphragms in 2, pyloric atresia with a gap in 4 and pyloric atresia without gap in 3. Ten died postoperatively giving an overall survival of 40%. CPA is a very rare condition. Isolated CPA carries a good prognosis. Association of CPA with other familial and congenital anomalies like EB and MIA carries a poor prognosis. © 2014.

Coronary artery anomalies in Turner Syndrome.

PubMed

Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H

Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.

Vascular anomalies and the growth of limbs: a review.

PubMed

Enjolras, Odile; Chapot, René; Merland, Jean Jacques

2004-11-01

Growth of the limb in a child can be impaired, with the coexistence of a vascular malformation. In these vascular bone syndromes, altered growth is manifest as overgrowth or hypotrophy. The vascular malformation is usually complex and gets progressively worse with time. The two types of vascular anomalies in limbs, fast-flow and slow-flow, can be associated with limb length discrepancies. The fast-flow vascular malformations together with arteriovenous fistulae are part of Parkes Weber syndrome, characterized by congenital red cutaneous staining, hypertrophy in girth and increasing of limb length, lymphedema, increasing skin alterations due to a distal vascular steal, and pain, all of which develop during childhood. Treatment is generally conservative. An affected lower extremity can be complicated by pelvic tilting and scoliosis because leg length discrepancy may reach 10 cm. To avoid such a course, stapling epiphysiodesis of the knee cartilages is often performed, but this orthopedic procedure may augment the worsening of the arterial venous malformation in the limb. Therefore, less aggressive orthopedic management is preferable. Slow-flow vascular anomalies associated with limb growth alteration include (1) a diffuse capillary malformation (port-wine stain) with congenital hypertrophy of the involved extremity which is non-progressive; (2) purely venous malformations invading skin, muscles and joints, with pain, functional impairment, a chronic localized intravascular coagulopathy requiring distinctive management, and usually a slight undergrowth of the affected extremity and progressing amyotrophy; (3) the triad of a port-wine stain, anomalous veins and overgrowth of the limb, often known as Klippel-Trenaunay syndrome, which requires orthopedic management to decide the optimal timing for epiphysiodesis (i.e. when leg length discrepancy is >2.5 cm). Varicose veins are sometimes surgically removed after ultrasonographic and Doppler evaluation has confirmed a

Congenital amusia.

PubMed

Williamson, Victoria J; Stewart, Lauren

2013-01-01

For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

Intraventricular Hemorrhage in Moderate to Severe Congenital Heart Disease.

PubMed

Ortinau, Cynthia M; Anadkat, Jagruti S; Smyser, Christopher D; Eghtesady, Pirooz

2018-01-01

Determine the prevalence of intraventricular hemorrhage in infants with moderate to severe congenital heart disease, investigate the impact of gestational age, cardiac diagnosis, and cardiac intervention on intraventricular hemorrhage, and compare intraventricular hemorrhage rates in preterm infants with and without congenital heart disease. A single-center retrospective review. A tertiary care children's hospital. All infants admitted to St. Louis Children's Hospital from 2007 to 2012 with moderate to severe congenital heart disease requiring cardiac intervention in the first 90 days of life and all preterm infants without congenital heart disease or congenital anomalies/known genetic diagnoses admitted during the same time period. None. Cranial ultrasound data were reviewed for presence/severity of intraventricular hemorrhage. Head CT and brain MRI data were also reviewed in the congenital heart disease infants. Univariate analyses were undertaken to determine associations with intraventricular hemorrhage, and a final multivariate logistic regression model was performed. There were 339 infants with congenital heart disease who met inclusion criteria and 25.4% were born preterm. Intraventricular hemorrhage was identified on cranial ultrasound in 13.3% of infants, with the majority of intraventricular hemorrhage being low-grade (grade I/II). The incidence increased as gestational age decreased such that intraventricular hemorrhage was present in 8.7% of term infants, 19.2% of late preterm infants, 26.3% of moderately preterm infants, and 53.3% of very preterm infants. There was no difference in intraventricular hemorrhage rates between cardiac diagnoses. Additionally, the rate of intraventricular hemorrhage did not increase after cardiac intervention, with only three infants demonstrating new/worsening high-grade (grade III/IV) intraventricular hemorrhage after surgery. In a multivariate model, only gestational age at birth and African-American race were predictors

Fusionless instrumentation systems for congenital scoliosis: expandable spinal rods and vertical expandable prosthetic titanium rib in the management of congenital spine deformities in the growing child.

PubMed

Yazici, Muharrem; Emans, John

2009-08-01

Review of relevant literature including personal opinions. To review the current researches investigating the efficacy of growing rod and thoracic expansion techniques in the treatment of congenital spine deformity of young children, and to highlight the contrasting advantages and limitations in the fusionless treatment of progressive congenital scoliosis. Congenital scoliosis has the potential for severe spinal deformity and thoracic insufficiency syndrome (TIS). Conventional fusion treatments in children tend to shorten the spine further exacerbating trunk shortening and TIS. In the surgical treatment of congenital spinal deformities in young children, while reconstructing the spinal deformity, one should simultaneously pursue preserving the growth potential of the vertebrae, improving the volume, symmetry, and functions of the thorax, and protecting this improvement during the growth. Today, employed in the treatment of spinal deformities of young children, there are 2 deformity reconstruction methods serving these targets: Growing rod technique and vertical expandable prosthetic titanium rib (VEPTR) with or without expansion thoracostomy. Peer-reviewed research articles and major international meeting presentations were reviewed. Methods were compared in terms of advantages and limitations. The growing rod technique is a safe and reliable method in the treatment of congenital spine deformity of young children who present some flexibility in the anomalous segment, or when the congenital anomaly involves a vertebral segment too long for resection, or with compensating curve with structural pattern concomitant to the congenital deformity. Expansion thoracostomy and VEPTR are the appropriate choice for severe congenital spine deformity when a large amount of growth remains. Although ventilator dependence is significantly decreasing, thoracic volume and space available for the lung are increased after expansion thoracostomy and VEPTR. Growing rod technique should be

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

PubMed

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

2014-01-01

The purpose of this study was to evaluate the prevalence of various congenital dental anomalies in the permanent dentition of Turkish children with Down syndrome. The sample consisted of 216 diagnostic records of children diagnosed with Down syndrome. All subjects had a clinical examination as well as radiographs and photographs taken. Anomalies in the permanent dentition were documented. There was a high incidence of dental anomalies, the most frequent being taurodontism (81 percent), rotation (28 percent), hypodontia (26 percent), tooth impaction (18 percent), ectopic eruption (14 percent), microdontia (13 percent), and hyperdontia (9 percent). Differences in prevalence of congenitally missing teeth, structural anomalies, and positional anomalies reached a statistically significant level regarding gender (P<.05). Turkish children with Down syndrome presented a high incidence of anomalies affecting the permanent dentition, and, in most cases, individuals presented with more than one anomaly.

Clinical and radiologic manifestations of congenital extrahepatic portosystemic shunts: a comprehensive review.

PubMed

Alonso-Gamarra, Eduardo; Parrón, Manuel; Pérez, Ana; Prieto, Consuelo; Hierro, Loreto; López-Santamaría, Manuel

2011-01-01

Congenital extrahepatic portosystemic shunt (CEPS) is a rare condition in which the portomesenteric blood drains into a systemic vein, bypassing the liver through a complete or partial shunt. Most often, the diagnosis is made primarily with Doppler ultrasonography. Computed tomographic angiography and magnetic resonance angiography are used for further classification of the shunt and assessment of accompanying anomalies. Conventional angiography is necessary when results of the other tests disagree or are inconclusive. CEPS is classified into two types according to the pattern of anastomoses between the portal vein and systemic vein. In type 1, intrahepatic portal venous supply is absent; in type 2, intrahepatic portal venous supply is preserved. Type 1 usually occurs in girls with associated malformations, such as situs ambiguous with polysplenia and congenital heart defects. Associated anomalies are less frequent in type 2, and symptoms usually develop later without a gender preference. Hepatic encephalopathy and liver dysfunction are possible complications of both types and usually develop during adulthood. Both types are also associated with regenerative hepatic nodules. The clinical setting and imaging appearance of these nodules can help one avoid misdiagnosis. Definitive treatment of CEPS is determined by the type of shunt. Liver transplantation is the only effective treatment for symptomatic type 1 CEPS; surgical closure or embolization of the shunt is the therapeutic approach for type 2. Copyright © RSNA, 2011.

Utility of three-dimensional and multiplanar reformatted computed tomography for evaluation of pediatric congenital spine abnormalities.

PubMed

Newton, Peter O; Hahn, Gregory W; Fricka, Kevin B; Wenger, Dennis R

2002-04-15

A retrospective radiographic review of 31 patients with congenital spine abnormalities who underwent conventional radiography and advanced imaging studies was conducted. To analyze the utility of three-dimensional computed tomography with multiplanar reformatted images for congenital spine anomalies, as compared with plain radiographs and axial two-dimensional computed tomography imaging. Conventional radiographic imaging for congenital spine disorders often are difficult to interpret because of the patient's small size, the complexity of the disorder, a deformity not in the plane of the radiographs, superimposed structures, and difficulty in forming a mental three-dimensional image. Multiplanar reformatted and three-dimensional computed tomographic imaging offers many potential advantages for defining congenital spine anomalies including visualization of the deformity in any plane, from any angle, with the overlying structures subtracted. The imaging studies of patients who had undergone a three-dimensional computed tomography for congenital deformities of the spine between 1992 and 1998 were reviewed (31 cases). All plain radiographs and axial two-dimensional computed tomography images performed before the three-dimensional computed tomography were reviewed and the findings documented. This was repeated for the three-dimensional reconstructions and, when available, the multiplanar reformatted images (15 cases). In each case, the utility of the advanced imaging was graded as one of the following: Grade A (substantial new information obtained), Grade B (confirmatory with improved visualization and understanding of the deformity), and Grade C (no added useful information obtained). In 17 of 31 cases, the multiplanar reformatted and three-dimensional images allowed identification of unrecognized malformations. In nine additional cases, the advanced imaging was helpful in better visualizing and understanding previously identified deformities. In five cases, no new

Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China.

PubMed

Sun, Ge; Xu, Zhe-Ming; Liang, Jian-Feng; Li, Lin; Tang, Da-Xing

2011-11-01

One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, P<0.0001; hypospadias, P=0.0021; OFC, P=0.005; polydactyly, P=0.0867; syndactyly, P=0.1941; and accessory auricle anomaly, P=0.0011. The upward trend was as follows: CHD (P=0.0026), intestinal atresia/stenosis (P=0.0103), kidney malformations (P<0.0001), hypospadias (P=0.0021), OFC (P=0.005), and accessory auricle anomaly (P=0.0011). The incidence of hydrocephalus (P=0.0042) showed a downward trend. No statistical significant trend was found in anorectal malformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations

[Diagnosis and treatment of congenital fourth branchial anomaly].

PubMed

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

2010-10-01

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

Aberrant tendinous chords with tethering of the tricuspid leaflets: a congenital anomaly causing severe tricuspid regurgitation

PubMed Central

Kobza, R; Kurz, D J; Oechslin, E N; Prêtre, R; Zuber, M; Vogt, P; Jenni, R

2004-01-01

Objective: To define the entity of tricuspid regurgitation caused by tethering of the tricuspid valve leaflets by aberrant tendinous chords. Design: Retrospective study. Setting: Tertiary care centre (university teaching hospital). Patients: 10 patients with unexplained severe tricuspid regurgitation. Methods: The last 13 500 echocardiographic studies from our facility were reviewed to identify patients with severe unexplained tricuspid regurgitation. Tethering was defined by the presence of aberrant tendinous chords to the tricuspid valve leaflets limiting the mobility of the tricuspid leaflet and resulting in incomplete coaptation and apical displacement of the regurgitant jet origin. Aberrant tendinous chords were defined as those inserting at the clear zone of the tricuspid leaflet and not originating from the papillary muscle. Patients fulfilling the diagnostic criteria for Ebstein’s anomaly were excluded. Results: 10 patients with aberrant tendinous chords tethering one or more tricuspid valve leaflets were identified. There were short non-aberrant tendinous chords in seven patients, five of whom also had right ventricular or tricuspid annulus dilatation. Conclusions: Tethering of the tricuspid valve leaflets by aberrant tendinous chords can be the sole mechanism of congenital tricuspid regurgitation. It is often associated with short non-aberrant tendinous chords, which may develop secondary to right ventricular or tricuspid annulus dilatation. Awareness of tethering as a cause of tricuspid regurgitation may be important in planning reconstructive surgery. PMID:14966058

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.

Branchial anomalies in children: A report of 105 surgical cases.

PubMed

Li, Wanpeng; Xu, Hongming; Zhao, Liming; Li, Xiaoyan

2018-01-01

Branchial anomalies (BAs) account for 20% of all congenital masses in children. We sought to review the incidence of involvement of individual anomalies, diagnostic methods, surgical treatment, and complications of BAs in children. In addition, we also classified our study and analyzed a congenital lower neck cutaneous fistula near the sternoclavicular joint that was thought to be the skin-side remnant of the fourth BAs. We conducted a retrospective analysis of 105 children who were referred to our hospital from June 2009 to December 2016 for the treatment of BAs. In this series, there were 51 males and 54 females. The age at the time of operation varied from 19 days to 13 years, and the mean age was 4.5 years. A total of 33 (31.4%) cases presented with first BAs, 13 (12.4%) presented with second BAs, and 59 (56.2%) presented with third and fourth BAs, including 6 cases of congenital lower neck cutaneous fistula. Fistulectomy under general anesthesia was performed on all of them. For postoperative complications, 2 cases had temporary facial paralysis, 1 case had permanent facial paralysis, 4 cases had temporary recurrent laryngeal nerve injury. Recurrence occurred in 2 patients with first BAs after medium follow-up time of 3.6 years (6 months-8 years). BAs are common congenital head and neck lesions in children, and there are four distinct types (first, second, third and fourth anomalies). The incidence of third and fourth BAs in Asia maybe higher when compared with literature reports, second BAs seem rare in this population, but more research is needed to confirm this perspective. Diagnosis is not difficult with a proper knowledge of the anatomy of the BAs. The surgical procedures should be tailored depending on the various types, and complete excision of the fistula is the key to prevent recurrence. Copyright © 2017 Elsevier B.V. All rights reserved.

New therapies for vascular anomalies of the gastrointestinal tract.

PubMed

Fox, Victor L

2018-06-01

Vascular anomalies are a morphologically and biologically diverse group of vascular channel abnormalities that are often congenital but may evolve or change over time in the developing child. Classification is based on a combination of physical and biological properties and clinical behavior that differentiate primarily between tumors and malformations and includes a few provisionally unclassified lesions. Anomalies of the gastrointestinal (GI) tract may present clinically with GI bleeding, abdominal pain, high-output cardiac failure, and malabsorption. This review focuses on new therapies for the treatment of GI bleeding. Important new pharmacological therapies include treatment of hemangioma with non-selective and selective beta-antagonist agents, propranolol and atenolol, and treatment of blue rubber bleb nevus syndrome and cutaneo-visceral angiomatosis with thrombocytopenia (also known as multifocal lymphangioendotheliomatosis with thrombocytopenia) with sirolimus, an inhibitor of the mammalian target of rapamycin. Therapeutic endoscopy may offer an effective alternative to bowel resection for colonic varices and other focal vascular anomalies of the GI tract that fail to respond to pharmacological therapy.

Systemic venous anomalies in the Middle East

PubMed Central

Corno, Antonio F.; Alahdal, Sami A.; Das, Karuna Moy

2013-01-01

Introduction: Systemic venous anomalies are quite rare and can be associated with congenital heart disease requiring surgery. Materials and Methods: All consecutive patients (pts) undergoing surgery for congenital heart defects were retrospectively analyzed for presence of systemic venous anomalies: (a) Persistent left superior vena cava (PLSVC)(b) Inferior vena cava (IVC) interruption(c) Retro-aortic innominate vein Results: From 9/2010 to 5/2012 155 pts, median age 7 months, mean age 1.3 years (3 days–50 years), median weight 4 kg, mean weight 7.2 kg (0.6–110 kg) underwent congenital heart surgery. Twenty-nine systemic venous anomalies were identified in 28/155 patients (=18.1%). PLSVC was present in 21 pts (=13.5%), median age 4 months, mean age 2.7 years (3 days–22 years), median weight 6 kg, mean weight 10.1 kg (2.4–43.0 kg). IVC interruption was identified in 5 pts (=3.2%), median age 2 months, mean age 5.4 years (30 days–26 years), median weight 3.7 kg, median weight 17 kg (2.3–68.0 kg). Retro-aortic innominate vein was diagnosed in 3 pts (=1.9%), median age 5 years, mean age 3.7 years (10 months–5 years), median weight 12 kg, mean weight 10.1 kg (4.5–14 kg). Complete pre-operative diagnosis was obtained in 14/28 (=50%) pts with echocardiography and in other 8/28 (=28.6%) only after computed tomography (CT) scan, for a total of 22/28 (=78.6%) correct pre-operative diagnosis. In 6/28 (=21.4%) patients the diagnosis was intra-operative. Total incidence of systemic venous anomalies was 18.1% (vs. 4% in the literature, P = 0.0009), with presence of PLSVC = 13.5% (vs. 0.3–4.0%, respectively P = 0.0004 and P = 0.0012), IVC interruption = 3.2% (vs. 0.1–1.3%, N.S.), and retro-aortic innominate vein = 1.9% (vs. 0.2–1%, N.S.). Conclusions: Our study showed an incidence of systemic venous anomalies in Middle Eastern pts with congenital heart defects higher than previously reported. In 78.6% of pts the diagnosis was correctly made before surgery

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.

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

PubMed

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

2014-01-01

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

Nomenclature for congenital and paediatric cardiac disease: the International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Iteration of the International Classification of Diseases (ICD-11).

PubMed

Franklin, Rodney C G; Béland, Marie J; Colan, Steven D; Walters, Henry L; Aiello, Vera D; Anderson, Robert H; Bailliard, Frédérique; Boris, Jeffrey R; Cohen, Meryl S; Gaynor, J William; Guleserian, Kristine J; Houyel, Lucile; Jacobs, Marshall L; Juraszek, Amy L; Krogmann, Otto N; Kurosawa, Hiromi; Lopez, Leo; Maruszewski, Bohdan J; St Louis, James D; Seslar, Stephen P; Srivastava, Shubhika; Stellin, Giovanni; Tchervenkov, Christo I; Weinberg, Paul M; Jacobs, Jeffrey P

2017-12-01

An internationally approved and globally used classification scheme for the diagnosis of CHD has long been sought. The International Paediatric and Congenital Cardiac Code (IPCCC), which was produced and has been maintained by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (the International Nomenclature Society), is used widely, but has spawned many "short list" versions that differ in content depending on the user. Thus, efforts to have a uniform identification of patients with CHD using a single up-to-date and coordinated nomenclature system continue to be thwarted, even if a common nomenclature has been used as a basis for composing various "short lists". In an attempt to solve this problem, the International Nomenclature Society has linked its efforts with those of the World Health Organization to obtain a globally accepted nomenclature tree for CHD within the 11th iteration of the International Classification of Diseases (ICD-11). The International Nomenclature Society has submitted a hierarchical nomenclature tree for CHD to the World Health Organization that is expected to serve increasingly as the "short list" for all communities interested in coding for congenital cardiology. This article reviews the history of the International Classification of Diseases and of the IPCCC, and outlines the process used in developing the ICD-11 congenital cardiac disease diagnostic list and the definitions for each term on the list. An overview of the content of the congenital heart anomaly section of the Foundation Component of ICD-11, published herein in its entirety, is also included. Future plans for the International Nomenclature Society include linking again with the World Health Organization to tackle procedural nomenclature as it relates to cardiac malformations. By doing so, the Society will continue its role in standardising nomenclature for CHD across the globe, thereby promoting research and better outcomes for fetuses

Congenital aplastic-hypoplastic lumbar pedicle in infants and young children

DOE Office of Scientific and Technical Information (OSTI.GOV)

Yousefzadeh, D.K.; El-Khoury, G.Y.; Lupetin, A.R.

1982-01-01

Nine cases of congenital aplastic-hypoplastic lumbar pedicle (mean age 27 months) are described. Their data are compared to those of 18 other reported cases (mean age 24.7 years) and the following conclusions are made: (1) Almost exclusively, the pedicular defect in infants and young children is due to developmental anomaly rather than destruction by malignancy or infectious processes. (2) This anomaly, we think, is more common than it is believed to be. (3) Unlike adults, infants and young children rarely develop hypertrophy and/or sclerosis of the contralateral pedicle. (4) Detection of pedicular anomaly is more than satisfying a radiographic curiositymore » and may lead to discovery of other coexisting anomalies. (5) Ultrasonic screening of the patients with congenital pedicular defects may detect the associated genitourinary anomalies, if present, and justify further studies in a selected group of patients.« less

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

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

Clinico-pathological Characteristics of Congenital Pulmonary Lymphangiectasis: Report of Two Cases

PubMed Central

Eom, Minseob; Choi, Yoo Duk; Kim, Youn Shin; Cho, Mee-Yon; Lee, Han Young

2007-01-01

Congenital pulmonary lymphangiectasis (CPL) is a rare, poorly documented disease, characterized by abnormal dilatation of pulmonary lymphatics without lymphatic proliferation. This disease is seen almost exclusively in infancy and early childhood. It can usually be divided into primary (congenital) and secondary forms. The primary form presents in neonates, and the patients mostly die due to the respiratory distress, shortly after birth. The authors experienced two cases of primary CPL in a 13-day-old male neonate and a one-day-old male neonate, showing prominent lymphatic dilatation in the septal, subpleural, and peri-bronchial tissue throughout both lungs. The latter case was associated with congenital cardiac anomaly including single ventricle. These are unique cases of CPL in Korea of which the diagnosis was established through post-mortem examination. Therefore, the authors report these two cases with primary CPL with a review of the literature. PMID:17728521

Dental and oral anomalies in incontinentia pigmenti: a systematic review.

PubMed

Minić, Snežana; Trpinac, Dušan; Gabriel, Heinz; Gencik, Martin; Obradović, Miljana

2013-01-01

Incontinentia pigmenti (IP) is an X-linked genodermatosis caused by a mutation of the IKBKG gene. The objective of this study was to present a systematic review of the dental and oral types of anomalies, to determine the total number and sex distribution of the anomalies, and to analyze possible therapies. We analyzed the literature data from 1,286 IP cases from the period 1993-2010. Dental and/or oral anomalies were diagnosed for 54.38% of the investigated IP patients. Most of the anomaly types were dental, and the most frequent of these were dental shape anomalies, hypodontia, and delayed dentition. The most frequent oral anomaly types were cleft palate and high arched palate. IKBKG exon 4-10 deletion was present in 86.36% of genetically confirmed IP patients. According to the frequency, dental and/or oral anomalies represent the most frequent and important IP minor criteria. The most frequent mutation was IKBKG exon 4-10 deletion. The majority of dental anomalies and some of the oral anomalies could be corrected. Because of the presence of cleft palate and high arched palate in IP patients, these two anomalies may be considered as diagnostic IP minor criteria as well.

Mirror ear: a reconstructive technique for substantial tragal anomalies or polyotia.

PubMed

Gore, Sinclair M; Myers, Simon R; Gault, David

2006-01-01

Polyotia (mirror ear) is an extremely rarely reported congenital anomaly of the external ear. The aetiology of this condition is unclear, and there are few descriptions of surgical techniques used. We aimed to review our experience with this condition by performing a retrospective review of the cases treated in our unit. Eight cases of polyotia treated at a referral centre for ear reconstruction in a 12 year period (1992-2004) were reviewed. Patient demographic data and associated syndromes were recorded. Operative techniques used in the cases were studied. There was an equal number of males and females. Four patients had abnormal contralateral ears and two patients were formally diagnosed as suffering from a congenital developmental syndrome. Five main components of surgical technique were found to be particularly relevant to these cases. These relate to deconstruction of the defect, management of extra cartilage, management of skin, proximity of the facial nerve and the timing of surgery. The authors conclude that a structured surgical approach can lead to successful reconstruction of these difficult abnormalities.

Congenital syphilis: early- and late-stage findings of rhagades and dental anomalies.

PubMed

Khetarpal, Shilpi; Kempf, Ellen; Mostow, Eliot

2011-01-01

Congenital syphilis occurs via vertical transmission when Treponema pallidum crosses the placenta after the 16th week of gestation. Manifestations of congenital syphilis vary from asymptomatic infection to stillbirth. We present a case of congenital syphilis in a Vietnamese orphan who presented with rhagades, hearing deficit, and abnormal dentition after adoption in the United States. He demonstrated both early- and late-stage findings of congenital syphilis. He is presumed to be 5 years old, and it is uncertain if he received treatment. Upon arrival to the United States, his rapid plasma reagin test was negative, but his fluorescent treponemal antibody-absorption test was positive, so no further treatment was recommended. It is possible that other late congenital syphilis stigmata may develop in his later years. The Centers for Disease Control recommends screening all pregnant women for syphilis at the beginning of prenatal care. Clinicians should be made aware of the manifestations of congenital syphilis, especially when caring for international orphans and children born to mothers who lacked prenatal care. © 2010 Wiley Periodicals, Inc.

Unilateral fixation for treatment of occipitocervical instability in children with congenital vertebral anomalies of the craniocervical junction.

PubMed

Mazur, Marcus D; Ravindra, Vijay M; Brockmeyer, Douglas L

2015-04-01

OBJECT Patients with occipitocervical (OC) instability from congenital vertebral anomalies (CVAs) of the craniocervical junction (CCJ) often have bony abnormalities that make instrumentation placement difficult. Within this patient population, some bilateral instrumentation constructs either fail or are not feasible, and a unilateral construct must be used. The authors describe the surgical management and outcomes of this disorder in patients in whom unilateral fixation constructs were used to treat OC instability. METHODS From a database of OC fusion procedures, the authors identified patients who underwent unilateral fixation for the management of OC instability. Patient characteristics, surgical details, and radiographic outcomes were reviewed. In each patient, CT scans were performed at least 4 months after surgery to evaluate for fusion. RESULTS Eight patients with CVAs of the CCJ underwent unilateral fixation for the treatment of OC instability. For 4 patients, the procedure occurred after a bilateral OC construct failed or infection forced hardware removal. For the remainder, it was the primary procedure. Two patients required reoperation for hardware revision and 1 developed nonunion requiring revision of the bone graft. Ultimately, 7 patients demonstrated osseous fusion on CT scans and 1 had a stable fibrous union. CONCLUSIONS These findings demonstrate that a unilateral OC fixation is effective for the treatment of OC instability in children with CVAs of the CCJ in whom bilateral screw placement fails or is not feasible.

The position of symbrachydactyly in the classification of congenital hand anomalies.

PubMed

Miura, T; Nakamura, R; Horii, E

1994-06-01

The clinical features of 53 cases of intercalated hypoplasia and 113 cases of distal aplasia are reviewed and compared with each other and with 129 cases of syndactyly. Tri-, di- and mono-phalangeal symbrachydactyly, and adactyly with nubbin digits are consecutive anomalies. Transverse deficiency may result if the mesenchyme is damaged severely, and if damage is mild and formation has continued, intercalated transverse deficiency may occur. Webbing in symbrachydactyly may result from failure of the apical ectodermal ridge under the influence of damaged mesenchyme.

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

PubMed

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

2014-01-01

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

Penile agenesis and congenital hypertrophic pyloric stenosis: an association or a random coexistence?

PubMed

Yagmurlu, Aydin; Vargun, Rahsan; Gollu, Gulnur; Gokcora, I Haluk

2004-01-01

A neonate with penile agenesis and congenital hypertrophic pyloric stenosis is presented. The patterns of associated anomalies with penile agenesis, and those of congenital hypertrophic pyloric stenosis are discussed.

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

PubMed

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

1985-08-01

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

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

PubMed

Vogt, Florian M; Theysohn, Jens M; Michna, Dariusz; Hunold, Peter; Neudorf, Ulrich; Kinner, Sonja; Barkhausen, Jörg; Quick, Harald H

2013-09-01

To evaluate time-resolved interleaved stochastic trajectories (TWIST) contrast-enhanced 4D magnetic resonance angiography (MRA) and compare it with 3D FLASH MRA in patients with congenital heart and vessel anomalies. Twenty-six patients with congenital heart and vessel anomalies underwent contrast-enhanced MRA with both 3D FLASH and 4D TWIST MRA. Images were subjectively evaluated regarding total image quality, artefacts, diagnostic value and added diagnostic value of 4D dynamic imaging. Quantitative comparison included signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR) and vessel sharpness measurements. Three-dimensional FLASH MRA was judged to be significantly better in terms of image quality (4.0 ± 0.6 vs 3.4 ± 0.6, P < 0.05) and artefacts (3.8 ± 0.4 vs 3.3 ± 0.5, P < 0.05); no difference in diagnostic value was found (4.2 ± 0.4 vs 4.0 ± 0.4); important additional functional information was found in 21/26 patients. SNR and CNR were higher in the pulmonary trunk in 4D TWIST, but slightly higher in the systemic arteries in 3D FLASH. No difference in vessel sharpness delineation was found. Although image quality was inferior compared with 3D FLASH MRA, 4D TWIST MRA yields robust images and added diagnostic value through dynamic acquisition was found. Thus, 4D TWIST MRA is an attractive alternative to 3D FLASH MRA. • New magnetic resonance angiography (MRA) techniques are increasingly introduced for congenital cardiovascular problems. • Time-resolved angiography with interleaved stochastic trajectories (TWIST) is an example. • Four-dimensional TWIST MRA provided inferior image quality compared to 3D FLASH MRA but without significant difference in vessel sharpness. • Four-dimensional TWIST MRA gave added diagnostic value.

The Prevalence of Congenital Malformations and its Correlation with Consanguineous Marriages

PubMed Central

Tayebi, Naeimeh; Yazdani, Katayon; Naghshin, Nazila

2010-01-01

Objectives Consanguinity has been a long standing social habit among some Iranians. This study is aimed at determining the role of consanguinity on congenital malformations and the correlation of inbreeding coefficient with anomalies. Methods In this cross-sectional study, all the newborns who were born during 9 months period from April to December 2008. (n=1195) at Shahid Sadoughi hospital, Yazd, Iran were studied. Results From 1195 neonates, 300 (25%) were from consanguineous marriages and 895 (75%) were from non-familial marriages. From 45 cases with anomalies, 34 (2.8%) cases were from familial marriages, while only 11 (0.9%) cases were from non-familial marriages. There was a significant correlation between parental marriages and the prevalence of anomaly (p=0.018). Conclusion The prevalence of congenital anomalies was mostly observed in consanguineous marriages compared to non consanguineous marriages. PMID:22125696

Pulmonary vascular anomalies: a review of clinical and radiological findings of cases presenting with different complaints in childhood.

PubMed

Nacaroğlu, Hikmet Tekin; Ünsal-Karkıner, Canan Şule; Bahçeci-Erdem, Semiha; Özdemir, Rahmi; Karkıner, Aytaç; Alper, Hüdaver; Can, Demet

2016-01-01

Congenital pulmonary vascular abnormalities arise from several etiologies. These anomalies are difficult to categorize and sorted into distinct classifications. Major pulmonary vascular abnormalities can be ranked as interruption of the main pulmonary artery or its absence, emergence of the left pulmonary artery in the right pulmonary artery, pulmonary venous drainage abnormalities, and pulmonary arteriovenous malformations (PAVMs). Some of the cases are asymptomatic and diagnosed by coincidence, whereas a few of them are diagnosed by typical findings in the newborn and infancy period, symptoms, and radiological appearances. Early diagnosis is important, since death may occur as a result of pulmonary and cardiac pathologies developed in patients with pulmonary vascular anomalies. In this case presentation, the clinical and radiological findings of patients that presented with different complaints and were diagnosed with pulmonary vascular anomalies were introduced.

The role of religion in decision-making on antenatal screening of congenital anomalies: a qualitative study amongst Muslim Turkish origin immigrants.

PubMed

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

2014-03-01

to explore what role religious beliefs of pregnant Muslim women play in their decision-making on antenatal screening, particularly regarding congenital abnormalities and termination, and whether their interpretations of the religious doctrines correspond to the main sources of Islam. qualitative pilot study using in-depth interviews with pregnant Muslim women. one midwifery practice in a medium-sized city near Amsterdam participated in the study. 10 pregnant Muslim women of Turkish origin who live in a high density immigrant area and who attended primary midwives for antenatal care were included in the study. to explore the role of religion in decision-making on antenatal screening tests, a topic list was constructed, including four subjects: being a (practising) Muslim, the view on unborn life, the view on disabled life and the view on termination. To analyse the interviews, open and axial coding based on the Grounded Theory was used and descriptive and analytical themes were identified and interpreted. all 10 interviewees stated that their faith played a role in their decision-making on antenatal screening, specific to the combined test. They did not consider congenital anomalies as a problem and did not consider termination to be an option in case of a disabled fetus. However, the Islamic jurisprudence considers that termination is allowed if the fetus has serious abnormalities, but only before 19 weeks plus one day of gestation. religious convictions play a role regarding antenatal screening in pregnant Muslim women of Turkish origin. The interviewees did not consider a termination in case of an affected child. Women were unaware that within Islamic tradition there is the possibility of termination if a fetus has serious anomalies. Incomplete knowledge of religious doctrines may be influencing both decisions of antenatal screening and diagnostic tests uptake and of terminating a pregnancy for fetuses with serious anomalies. counsellors should be aware of the

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

PubMed

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

2010-10-01

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

Parental consanguinity and associated factors in congenital talipes equinovarus.

PubMed

Sreenivas, T; Nataraj, A R

2012-03-01

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

Unilateral congenital terminal finger absences: a condition that differs from symbrachydactyly.

PubMed

Knight, Jeffrey B; Pritsch, Tamir; Ezaki, Marybeth; Oishi, Scott N

2012-01-01

To describe a type of nonhereditary unilateral transverse deficiency, which we have named hypodactyly, that is distinct from symbrachydactyly or amniotic disruption sequence. We identified 19 patients with unilateral congenital anomalies consisting of absent or short bulbous fingers that lack terminal ectodermal elements. Medical records and radiographs were retrospectively reviewed and contrasted with the typical findings of symbrachydactyly and amniotic disruption sequence. No associated syndromes or potentially causative diagnoses were identified in the hypodactyly patients. The digital absences were of a truncated pattern with thickened, tubular soft tissue coverage. Radiographs revealed a pattern of severity progression that is different from that of symbrachydactyly. Distal phalanges were the bony elements absent most frequently, followed sequentially by the middle phalanx and proximal phalanx. In all cases, metacarpals were present. Unlike symbrachydactyly, the ulnar 2 digits were more involved than the index and long fingers, and the thumb was the least involved digit. Hypodactyly appears to be a congenital hand anomaly that is clinically and radiographically different from symbrachydactyly or amniotic disruption sequence and is presumed to be caused by a distinct pathomechanism. Prognostic IV. Copyright © 2012 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies.

PubMed

Lee, Sun Ho; Song, Wung Joo

2017-09-01

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

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. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For permissions please email: journals.permissions@oup.com.

Treatment of graves' disease with antithyroid drugs in the first trimester of pregnancy and the prevalence of congenital malformation.

PubMed

Yoshihara, Ai; Noh, JaedukYoshimura; Yamaguchi, Takuhiro; Ohye, Hidemi; Sato, Shiori; Sekiya, Kenichi; Kosuga, Yuka; Suzuki, Miho; Matsumoto, Masako; Kunii, Yo; Watanabe, Natsuko; Mukasa, Koji; Ito, Kunihiko; Ito, Koichi

2012-07-01

Several reports have suggested that propylthiouracil (PTU) may be safer than methimazole (MMI) for treating thyrotoxicosis during pregnancy because congenital malformations have been associated with the use of MMI during pregnancy. We investigated whether in utero exposure to antithyroid drugs resulted in a higher rate of major malformations than among the infants born to a control group of pregnant women. We reviewed the cases of women with Graves' disease who became pregnant. The pregnancy outcomes of 6744 women were known, and there were 5967 live births. MMI alone had been used to treat 1426 of the women, and 1578 women had been treated with PTU alone. The 2065 women who had received no medication for the treatment of Graves' disease during the first trimester served as the control group. The remaining women had been treated with potassium iodide, levothyroxine, or more than one drug during the first trimester. The antithyroid drugs were evaluated for associations with congenital malformations. The overall rate of major anomalies in the MMI group was 4.1% (50 of 1231), and it was significantly higher than the 2.1% (40 of 1906) in the control group (P = 0.002), but there was no increase in the overall rate of major anomalies in the PTU group in comparison with the control group (1.9%; 21 of 1399; P = 0.709). Seven of the 1231 newborns in the MMI group had aplasia cutis congenita, six had an omphalocele, seven had a symptomatic omphalomesenteric duct anomaly, and one had esophageal atresia. Hyperthyroidism in the first trimester of pregnancy did not increase the rate of congenital malformation. In utero exposure to MMI during the first trimester of pregnancy increased the rate of congenital malformations, and it significantly increased the rate of aplasia cutis congenita, omphalocele, and a symptomatic omphalomesenteric duct anomaly.

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.

Imaging of congenital chest wall deformities

PubMed Central

Bhaludin, Basrull N; Naaseri, Sahar; Di Chiara, Francesco; Jordan, Simon; Padley, Simon

2016-01-01

To identify the anatomy and pathology of chest wall malformations presenting for consideration for corrective surgery or as a possible chest wall “mass”, and to review the common corrective surgical procedures. Congenital chest wall deformities are caused by anomalies of chest wall growth, leading to sternal depression or protrusion, or are related to failure of normal spine or rib development. Cross-sectional imaging allows appreciation not only of the involved structures but also assessment of the degree of displacement or deformity of adjacent but otherwise normal structures and differentiation between anatomical deformity and neoplasia. In some cases, CT is also useful for surgical planning. The use of three-dimensional reconstructions, utilizing a low-dose technique, provides important information for the surgeon to discuss the nature of anatomical abnormalities and planned corrections with the patient and often with their parents. In this pictorial essay, we discuss the radiological features of the commonest congenital chest wall deformities and illustrate pre- and post-surgical appearances for those undergoing surgical correction. PMID:26916279

The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.

PubMed

Simmons, M Abigail; Brueckner, Martina

2017-10-01

This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients. Through the advances made possible by next generation sequencing, many of the comorbidities that are frequently seen in patients with genetic congenital heart disease patients can be attributed to the genetic mutation that caused the congenital heart disease. These comorbidities are both cardiac and noncardiac and include: neurodevelopmental disability, pulmonary disease, heart failure, renal dysfunction, arrhythmia and an increased risk of malignancy. Identification of the genetic cause of congenital heart disease helps reduce patient morbidity and mortality by improving preventive and early intervention therapies to address these comorbidities. Through an understanding of the clinical implications of the genetic underpinning of congenital heart disease, clinicians can provide care tailored to an individual patient and continue to improve the outcomes of congenital heart disease patients.

Congenital Symmastia: A 3-Step Approach

PubMed Central

Allam, Atef A.

2016-01-01

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

Pre-seismic anomalies from optical satellite observations: a review

NASA Astrophysics Data System (ADS)

Jiao, Zhong-Hu; Zhao, Jing; Shan, Xinjian

2018-04-01

Detecting various anomalies using optical satellite data prior to strong earthquakes is key to understanding and forecasting earthquake activities because of its recognition of thermal-radiation-related phenomena in seismic preparation phases. Data from satellite observations serve as a powerful tool in monitoring earthquake preparation areas at a global scale and in a nearly real-time manner. Over the past several decades, many new different data sources have been utilized in this field, and progressive anomaly detection approaches have been developed. This paper reviews the progress and development of pre-seismic anomaly detection technology in this decade. First, precursor parameters, including parameters from the top of the atmosphere, in the atmosphere, and on the Earth's surface, are stated and discussed. Second, different anomaly detection methods, which are used to extract anomalous signals that probably indicate future seismic events, are presented. Finally, certain critical problems with the current research are highlighted, and new developing trends and perspectives for future work are discussed. The development of Earth observation satellites and anomaly detection algorithms can enrich available information sources, provide advanced tools for multilevel earthquake monitoring, and improve short- and medium-term forecasting, which play a large and growing role in pre-seismic anomaly detection research.

Diprosopus: Systematic review and report of two cases.

PubMed

Bidondo, María Paz; Groisman, Boris; Tardivo, Agostina; Tomasoni, Fabián; Tejeiro, Verónica; Camacho, Inés; Vilas, Mariana; Liascovich, Rosa; Barbero, Pablo

2016-12-01

Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Sclerotherapy for congenital lesions in the head and neck.

PubMed

Kim, Kwang Hyun; Sung, Myung-Whun; Roh, Jong-Lyel; Han, Moon Hee

2004-09-01

This study retrospectively reviews the results of sclerotherapy using several sclerosants for congenital lesions of the head and neck. Between May 1990 and May 2002, patients with lymphatic malformations were treated by sclerotherapy; 10 with bleomycin, and 25 with OK-432. OK-432 sclerotherapy was also applied in 9 patients with plunging ranula and in 1 patient with branchial anomaly. Percutaneous sclerotherapy with ethanolamine oleate was used in 29 patients with venous malformations, and 28 patients with pyriform sinus fistula were treated by trichloroacetic acid chemocauterization. Overall, two thirds of patients with these lesions showed marked to complete response. One case of mortality occurred in the bleomycin sclerotherapy group. However, no major complications by other sclerosants were found. In lymphatic malformations, history of excision before sclerotherapy was a poor prognostic factor. Sclerotherapy using these sclerosants is a safe and effective primary treatment for congenital lesions in the head and neck.

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

Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan

PubMed Central

Wimalasundera, Ruwan; Holder, Susan

2015-01-01

The finding of bilateral congenital cataracts in the fetus is rare. We report bilateral congenital cataracts detected during the routine second trimester anomaly scan, which subsequently were found to be associated with other congenital anomalies and the parents opted for a termination of pregnancy. At post-mortem, Muscle–Eye Brain disease or Walker–Warburg Syndrome was considered likely, which are autosomal recessive congenital muscular dystrophy disorders associated with cerebral, cerebellar, muscle and eye anomalies. On ultrasound, bilateral cataracts appear as echogenic, solid areas within the fetal orbits. The examination of the fetal face and orbits plays an important role in confirming fetal well-being antenatally. We propose that it should become a routine part of the structural survey of fetal anatomy during the obstetric anomaly scan. This is especially important in pregnancies previously affected by fetal cataracts or pregnancies at risk of rare genetic syndromes. PMID:27433255

Description of congenital hand anomalies: a personal view.

PubMed

Tonkin, M A

2006-10-01

A series of four congenital hand cases exhibiting central clefting are presented. The cases are morphologically similar and exhibit characteristics of both symbrachydactyly and central longitudinal deficiency. The cases demonstrate difficulties in classification by either the IFSSH classification system or the JSSH modification of it. An alternative descriptive approach to classification is suggested.

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.

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

PubMed

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

2017-12-01

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

The accuracy of ultrasound in the diagnosis of congenital abnormalities.

PubMed

Munim, Shama; Nadeem, Salva; Khuwaja, Nadya Ali

2006-01-01

To determine the accuracy of ultrasound in the diagnosis of congenital abnormalities at the Aga Khan University Hospital, Karachi. The data of congenital abnormalities was obtained from the obstetrical database and medical records of all cases complicated by congenital abnormalities, delivering from January 2001 to December 2003 and was reviewed. Antenatal ultrasounds had been performed by operators with different level of experience. In addition this data was retrieved from the termination and Congenital anomaly register. A structured data collection form was used to collect information of different variables of interest. Congenital abnormalities, complicated 2.8% (n=170), of all deliveries, including all cases of termination of pregnancy, stillbirth and live births. Out of the total, 11.6% occurred in women above the age of 35 years. Consanguinity was found in 18.2% cases. Prenatal diagnosis was made in just under half of the cases (48.8%). Central nervous system and renal abnormalities were commonly diagnosed. However, facial defects, heart defects or skeletal defects were more commonly missed. Antenatal ultrasound successfully diagnosed foetal abnormalities in 48.8% of cases, and more than 90% Central Nervous system defects and renal abnormalities. In contrast about a quarter of Cardiac defects and none of the facial defects were detected. Based on these findings we recommend that the Sonologist should incorporate four chamber view of the heart and also look at the face carefully.

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

PubMed

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

2018-02-01

Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P < .0001) or intrauterine growth retardation group (50.0% vs 14.3%, P = .044) was significantly higher than that in isolated congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P < .0001). No significant difference was observed in the detection rates between congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild

Obstetric outcome of women with uterine anomalies in China.

PubMed

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

2010-02-20

Congenital uterine anomalies are associated with the highest incidence of reproductive failure and obstetric complications. This study aimed to summarize the clinical characteristics and prenatal outcome of pregnancy in women with congenital uterine malformations. This retrospective study evaluated the fertility and obstetric outcome of 116 inpatients with uterine malformations with pregnancy in Peking University Third Hospital from June 1998 to June 2009. A total of 270 randomly selected pregnant women with a previously confirmed normally shaped uterus as a control group. Student's t test and analysis of variance (ANOVA) were used to compare means for normally distributed variables. The analysis was carried out using the SPSS. Among 21 961 deliveries in Peking University Third Hospital, 116 (0.45%) were in women with uterine anomalies. A septate uterus was present in 43 (37.1%) and the uterus didelphys in 28 (24.2%) of the 116 women identified. Bicornuate uterus, arcuate and unicomate uterus were observed in 12 (10.3%), 18 (15.5%) and 15 (12.9%) patients, respectively. Patients with uterine anomalies had significantly higher rates of malpresentation (38.8%), preterm delivery (19.8%), and cesarean section (78.5%) compared with the group of women with a normal uterus. Patients with uterine anomalies had significantly lower mean birth-weight neonates and a significantly higher incidence of small for gestationalage (SGA) neonates; women with uterus didelphys more frequently required infertility treatment than patients with other uterine anomalies (P < 0.001). The rate of malpresentation was significantly higher in patients with septated uterus in comparison with patients with uterus unicorns (P < 0.05). Women with congenital uterinemal formation usually have higher incidence of complications during pregnancy and delivery. A septate uterus appears to be associated with poorer obstetric outcomes.

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

PubMed

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

2014-02-01

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. 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. 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. 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. Copyright © 2014 The Authors. Birth Defects Research (Part A) published by Wiley Periodicals, Inc.

Trimethoprim-sulfonamide Use during the First Trimester of Pregnancy and the Risk of Congenital Anomalies

PubMed Central

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

2016-01-01

Background Sulfonamide antibacterials are widely used in pregnancy, but evidence about their safety is mixed. The objective of this study was to assess the association between first-trimester sulfonamide exposure and risk of specific congenital malformations. Methods Mother-infant pairs were selected from a cohort of 1.2 million liveborn deliveries (2001–2008) at 11 US health plans comprising the Medication Exposure in Pregnancy Risk Evaluation Program (MEPREP). Mothers with first-trimester trimethoprim-sulfonamide (TMP-SUL) exposures were randomly matched 1:1 to 1) a primary comparison group: mothers exposed to penicillins and/or cephalosporins, and 2) a secondary comparison group: mothers with no dispensing of an antibacterial, antiprotozoal, or antimalarial medication during the same time period. The outcomes were cardiovascular abnormalities, cleft palate/lip, clubfoot, and urinary tract abnormalities. Results We first identified 7,615 infants in the TMP-SUL exposure group, of which 7595 (99%) were exposed to a combination of TMP-SUL and the remaining 1% to sulfonamides alone. After matching (1:1) to the comparator groups and only including those with complete data on covariates there were 20,064 (n=6,688 per group) in the primary analyses. Overall, cardiovascular defects (1.52%) were the most common and cleft lip/palate (0.10%) the least common that were evaluated. Compared to penicillin/cephalosporin exposure, and no antibacterial exposure, TMP-SUL exposure was not associated with statistically significant elevated risks for cardiovascular, cleft lip/palate, clubfoot, or urinary system defects. Conclusions First trimester TMP-SUL exposure was not associated with a higher risk of the congenital anomalies studied, compared to exposure to penicillins and/or cephalosporins, or no exposure to antibacterials. PMID:26599424

Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance.

PubMed

Rasmussen, N; Johnsen, N J; Thomsen, J

1979-01-01

Six out of twenty descendants of a reportedly affected grandfather have congenital bilateral symmetrical and isolated subtotal atresia of the external auditory canal. Four of the six affected descendants have bilateral foot anomalies--two affected cousins having congenital vertical talus. All of the three affected boys in the third generation have increased interocular distance. Short fifth fingers, bilateral single transverse palmar creases, pyloric stenosis and congenital exotropia were found infrequently and are considered coincidental features. Apart from the atresia, oto-rhinolaryngologic examination, mental function, dermatoglyphics, IgA, kidney function and heart function of the affected descendants were all normal. The karyotype of four affected descendants examined was normal. An autosomal dominant inheritance with variable expressivity is suggested.

Chronic kidney disease in congenital heart disease patients: a narrative review of evidence.

PubMed

Morgan, Catherine; Al-Aklabi, Mohammed; Garcia Guerra, Gonzalo

2015-01-01

Patients with congenital heart disease have a number of risk factors for the development of chronic kidney disease (CKD). It is well known that CKD has a large negative impact on health outcomes. It is important therefore to consider that patients with congenital heart disease represent a population in whom long-term primary and secondary prevention strategies to reduce CKD occurrence and progression could be instituted and significantly change outcomes. There are currently no clear guidelines for clinicians in terms of renal assessment in the long-term follow up of patients with congenital heart disease. Consolidation of knowledge is critical for generating such guidelines, and hence is the purpose of this view. This review will summarize current knowledge related to CKD in patients with congenital heart disease, to highlight important work that has been done to date and set the stage for further investigation, development of prevention strategies, and re-evaluation of appropriate renal follow-up in patients with congenital heart disease. The literature search was conducted using PubMed and Google Scholar. Current epidemiological evidence suggests that CKD occurs in patients with congenital heart disease at a higher frequency than the general population and is detectable early in follow-up (i.e. during childhood). Best evidence suggests that approximately 30 to 50 % of adult patients with congenital heart disease have significantly impaired renal function. The risk of CKD is higher with cyanotic congenital heart disease but it is also present with non-cyanotic congenital heart disease. Although significant knowledge gaps exist, the sum of the data suggests that patients with congenital heart disease should be followed from an early age for the development of CKD. There is an opportunity to mitigate CKD progression and negative renal outcomes by instituting interventions such as stringent blood pressure control and reduction of proteinuria. There is a need to

Associated morbidities to congenital diaphragmatic hernia and a relationship to human milk.

PubMed

Froh, Elizabeth B; Spatz, Diane L

2012-08-01

The majority of what is known in the recent literature regarding human milk studies in the neonatal intensive care setting is specific to term and/or preterm infants (including very-low-birth-weight preterm infants). However, there is a lack of human milk and breastfeeding literature concerning infants with congenital anomalies, specifically infants diagnosed with congenital diaphragmatic hernia (CDH). By applying human milk research conducted among other populations of infants, this article highlights how human milk may have a significant impact on infants with CDH. Recent human milk studies are reviewed and then applied to the CDH population in regard to respiratory and gastrointestinal morbidities, as well as infection and length of stay. In addition, clinical implications of these relationships are discussed and suggestions for future research are presented.

Unusual trend in the prevalence of trisomy 13 in mothers aged 35 and older: A population based study of national congenital anomaly data.

PubMed

Nair, Deepa Balachandran; Tucker, David; Hughes, Rhian; Greenacre, Judith; Morgan, Margery

2015-07-01

Trisomy 13 is one of the three autosomal trisomies compatible with viability. It is associated with structural anomalies, learning disability and poor survival. Advanced maternal age is the most frequently suggested risk factor. This is a population based register study to investigate the temporal trends of trisomy 13. Chromosomal trisomies were reviewed by the Welsh Congenital Anomaly Register using data from 1998-2012. All pregnancy outcomes were included. Prevalence rates and trends for all cases and for cases with mothers aged below 35 years and those aged 35 years and older were plotted for trisomy 13, 18 and 21. Possible risk factors contributing to the trend in older mothers were compared in the early and late period of the study. There were 124 cases of trisomy 13 over the 15 year period with 55 mothers aged 35 years and older. Overall prevalence was 2.5 per 10,000 total births. A significant declining trend in the prevalence of trisomy 13 in mothers aged 35 and older (χ(2) trend = 4.98, p=0.026) was noted. Rates for younger mothers were lower and remained stable. Prevalence of trisomy 18 and 21 in older mothers remained stable. The unexpected declining trend in trisomy 13 in older mothers could not be explained by the risk factors examined in this study. There have been no other reports of trends in the prevalence of trisomy 13 in older mothers in recent years. There is further need for surveillance of trends in future and in other populations. © 2015 Wiley Periodicals, Inc.

Chromosome abnormalities and the genetics of congenital corneal opacification

PubMed Central

Mataftsi, A.; Islam, L.; Kelberman, D.; Sowden, J.C.

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. PMID:21738392

Safety and pharmacokinetics of dolutegravir in HIV-positive pregnant women: a systematic review.

PubMed

Hill, Andrew; Clayden, Polly; Thorne, Claire; Christie, Rachel; Zash, Rebecca

2018-04-01

The integrase strand transfer inhibitor dolutegravir (DTG) is being introduced into low- and middle-income countries (LMICs) as an alternative to first-line treatment with non-nucleoside reverse transcriptase inhibitors. However, DTG is not yet widely recommended for use in pregnant women. The aim of this systematic review was to analyse all available data on birth outcomes and congenital anomalies in the infants of pregnant women treated with DTG. A PubMed and Embase search was conducted using the terms "dolutegravir" or "DTG" and "pregnancy" or "pregnant" from the earliest available date on the database to 26 July 2017. Any reports involving women who were pregnant, HIV positive and taking DTG were included. The percentage of pregnant women with adverse birth outcomes or congenital anomalies in their infants after taking dolutegravir was compared with five historical control databases. There were six databases included in the main analysis of birth outcomes and congenital anomalies, with a total of 1200 pregnant women. The percentage of pregnant women taking DTG with adverse birth outcomes and congenital abnormalities was similar to results from historical control studies of HIV-positive women. However, there was significant heterogeneity among the six databases - the percentage of infants with congenital anomalies ranged from 0.0% in Botswana (0/116 infants) to 13.3% in IMPAACT P1026S (2/15 infants). Up to 15 million people could be on treatment with DTG in LMICs within the next 5 years, of whom a substantial percentage is likely to be women of child-bearing potential. In many countries with large HIV epidemics, unplanned pregnancies are common and access to antenatal clinic facilities may be limited. Continued pharmacovigilance is essential, but it is reassuring that no clear safety signals have been detected, to date, for pregnant women treated with DTG in terms of birth outcomes or congenital anomalies.

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

PubMed

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

2015-01-01

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

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

PubMed

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

1995-07-01

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

[Prenatal diagnosis of a right thoracic congenital ectopic kidney with a diaphragmatic hernia: a combination with a good prognosis].

PubMed

Cessans, C; Pharamin, J; Crouzet, K; Kessler, S; Puget, C; Bouali, O; Galinier, P; Marcoux, M-O

2015-11-01

Ectopic intrathoracic kidney is a rare congenital anomaly, usually asymptomatic. This anomaly is sometimes associated with a diaphragmatic hernia. Few cases of this combination have been described, often in the absence of a prenatal diagnosis. We report on the case of a female newborn infant who was diagnosed with an ectopic intrathoracic right kidney and a diaphragmatic hernia upon 33 weeks of gestation. The patient underwent surgery on the first day of life and the respiratory and renal outcomes were simple. We review the literature and discuss the seemingly good prognosis of this combination. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

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

ClinicalTrials.gov

2018-03-21

Congenital Fibrosis of Extraocular Muscles; Duane Retraction Syndrome; Duane Radial Ray Syndrome; Mobius Syndrome; Brown Syndrome; Marcus Gunn Syndrome; Strabismus Congenital; Horizontal Gaze Palsy; Horizontal Gaze Palsy With Progressive Scoliosis; Facial Palsy; Facial Paresis, Hereditary, Congenital; Third Nerve Palsy; Fourth Nerve Palsy; Sixth Nerve Palsy; Synkinesis; Ocular Motility Disorders; Levator-Medial Rectus Synkinesis; Athabaskan Brainstem Dysgenesis; Tongue Paralysis; Ninth Nerve Disorder; Fifth Nerve Palsy; Seventh Nerve Palsy; Eleventh Nerve Disorder; Twelfth Nerve Disorder; Vagus Nerve Paralysis; Moebius Sequence

Instrumentation and fusion for congenital spine deformities.

PubMed

Hedequist, Daniel J

2009-08-01

A retrospective clinical review. To review the use of modern instrumentation of the spine for congenital spinal deformities. Spinal instrumentation has evolved since the advent of the Harrington rod. There is a paucity of literature, which discusses the use of modern spinal instrumentation in congenital spine deformity cases. This review focuses on modern instrumentation techniques for congenital scoliosis and kyphosis. A systematic review was performed of the literature to discuss spinal implant use for congenital deformities. Spinal instrumentation may be safely and effectively used in cases of congenital spinal deformity. Spinal surgeons taking care of children with congenital spine deformities need to be trained in all aspects of modern spinal instrumentation.

Congenital Cytomegalovirus Infection in Children with Autism Spectrum Disorder: Systematic Review and Meta-Analysis

ERIC Educational Resources Information Center

Maeyama, Kaori; Tomioka, Kazumi; Nagase, Hiroaki; Yoshioka, Mieko; Takagi, Yasuko; Kato, Takeshi; Mizobuchi, Masami; Kitayama, Shinji; Takada, Satoshi; Nagai, Masashi; Sakakibara, Nana; Nishiyama, Masahiro; Taniguchi-Ikeda, Mariko; Morioka, Ichiro; Iijima, Kazumoto; Nishimura, Noriyuki

2018-01-01

Association of congenital cytomegalovirus (CMV) infection with autism spectral disorder (ASD) has been suggested since 1980s. Despite the observed association, its role as a risk factor for ASD remains to be defined. In the present review, we systematically evaluated the available evidence associating congenital CMV infection with ASD using…

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

PubMed

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

2016-07-29

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

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

PubMed

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

2016-09-01

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

Hearing and neurodevelopmental outcomes for children with asymptomatic congenital cytomegalovirus infection: A systematic review.

PubMed

Bartlett, Adam W; McMullan, Brendan; Rawlinson, William D; Palasanthiran, Pamela

2017-09-06

Congenital CMV is one of the commonest congenital infections and a recognised cause of sensorineural hearing loss and neurodevelopmental impairment. Ninety percent are clinically inapparent at birth but are reported to be at risk of developing such abnormalities throughout childhood, the extent of which requires further elucidation. A systematic literature review was conducted using Medline and Embase databases, manual citation review, and personal libraries for articles reporting primary data on hearing and neurodevelopmental outcomes for children with asymptomatic congenital CMV. PROSPERO registration number CRD42015025407. Thirty-seven of 480 articles identified between 1969 and 2016 met the eligibility criteria. Twenty-nine of these contributed primary data on hearing outcomes and 20 on neurodevelopmental outcomes (12 of the 37 studies contributed data on both). Cumulative incidence of sensorineural hearing loss with follow-up to at least 5 years was 7% to 11%, which is more than healthy controls but less than children with symptomatic congenital CMV (34%-41%). The onset, course, and severity of hearing loss was variable with no reliable virological prognostic marker. In comparison to controls, children with asymptomatic congenital CMV did not perform worse than controls in neurodevelopmental assessments and performed better than children with symptomatic congenital CMV. Studies show children with asymptomatic congenital CMV are at increased risk of developing hearing loss but perform equally well on neurodevelopmental assessments when compared with healthy controls. There is no reliable virological marker to determine which infants will develop sequelae. Regular follow-up until school entry is supported by the literature. Copyright © 2017 John Wiley & Sons, Ltd.

Maternal Use of Opioids During Pregnancy and Congenital Malformations: A Systematic Review

PubMed Central

Lind, Jennifer N.; Interrante, Julia D.; Ailes, Elizabeth C.; Gilboa, Suzanne M.; Khan, Sara; Frey, Meghan T.; Dawson, April L.; Honein, Margaret A.; Dowling, Nicole F.; Razzaghi, Hilda; Creanga, Andreea A.; Broussard, Cheryl S.

2017-01-01

CONTEXT Opioid use and abuse have increased dramatically in recent years, particularly among women. OBJECTIVES We conducted a systematic review to evaluate the association between prenatal opioid use and congenital malformations. DATA SOURCES We searched Medline and Embase for studies published from 1946 to 2016 and reviewed reference lists to identify additional relevant studies. STUDY SELECTION We included studies that were full-text journal articles and reported the results of original epidemiologic research on prenatal opioid exposure and congenital malformations. We assessed study eligibility in multiple phases using a standardized, duplicate review process. DATA EXTRACTION Data on study characteristics, opioid exposure, timing of exposure during pregnancy, congenital malformations (collectively or as individual subtypes), length of follow-up, and main findings were extracted from eligible studies. RESULTS Of the 68 studies that met our inclusion criteria, 46 had an unexposed comparison group; of those, 30 performed statistical tests to measure associations between maternal opioid use during pregnancy and congenital malformations. Seventeen of these (10 of 12 case-control and 7 of 18 cohort studies) documented statistically significant positive associations. Among the case-control studies, associations with oral clefts and ventricular septal defects/atrial septal defects were the most frequently reported specific malformations. Among the cohort studies, clubfoot was the most frequently reported specific malformation. LIMITATIONS Variabilities in study design, poor study quality, and weaknesses with outcome and exposure measurement. CONCLUSIONS Uncertainty remains regarding the teratogenicity of opioids; a careful assessment of risks and benefits is warranted when considering opioid treatment for women of reproductive age. PMID:28562278

A young Botswana patient with congenital iris ectropion uvea.

PubMed

Shifa, Jemal Zeberga; Nkomazana, Othokawa; Bekele, Negussie Alula; Kassa, Mamo Woldu

2016-01-01

Congenital iris ectropion is a rare condition; non-progressive anomaly characterised by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is frequently associated with anterior iris insertion, dysgenesis of the drainage angle and glaucoma. This paper describes unusual case of bilateral case of congenital iris ectropion in adult patient with pupillary abnormality, normal anterior chamber angle structure and with no evidence of glaucoma.

Prevalence and distribution of congenital abnormalities in Turkey: differences between the prenatal and postnatal periods.

PubMed

Oztarhan, Kazim; Gedikbasi, Ali; Yildirim, Dogukan; Arslan, Oguz; Adal, Erdal; Kavuncuoglu, Sultan; Ozbek, Sibel; Ceylan, Yavuz

2010-12-01

The aim of this study was to determine the distribution of cases associated with congenital abnormalities during the following three periods: pregnancy, birth, and the neonatal period. This was a retrospective study of cases between 2002 and 2006. All abnormal pregnancies, elective terminations of pregnancies, stillbirths, and births with congenital abnormalities managed in the Neonatology Unit were classified based on the above distribution scheme. During the 5-year study period, 1906 cases with congenital abnormalities were recruited, as follows: 640 prenatally detected and terminated cases, with most abnormalities related to the central nervous system, chromosomes, and urogenital system (56.7%, 12.7%, and 8.9%, respectively); 712 neonates with congenital abnormalities (congenital heart disease [49.2%], central nervous system abnormalities [14.7%], and urogenital system abnormalities [12.9%]); and hospital stillbirths, of which 34.2% had malformations (220 prenatal cases [34.4%] had multiple abnormalities, whereas 188 liveborn cases [26.4%] had multiple abnormalities). The congenital abnormalities rate between 2002 and 2006 was 2.07%. Systematic screening for fetal anomalies is the primary means for identification of affected pregnancies. © 2010 The Authors. Congenital Anomalies © 2010 Japanese Teratology Society.

[3.0 T MRI with a high resolution protocol for the study of benign disease of the anus and rectum. Part one: High resolution protocol for 3.0 T MRI, anatomic review, benign tumors, and congenital or acquired alterations of the sphincter complex].

PubMed

Herráiz Hidalgo, L; Cano Alonso, R; Carrascoso Arranz, J; Álvarez Moreno, E; Martínez de Vega Fernández, V

2014-01-01

Benign anorectal disease comprises a broad group of processes with very diverse origins; these processes may be congenital or acquired as well as inflammatory or tumor related. However, benign anorectal disease has received less attention in the scientific literature than malignant disease. We present an image-based review of the most common benign diseases of the anus and rectum. In this first part, we review the anatomy of the region and provide a brief description of the peculiarities of the high resolution protocol that we use with 3.0 T MRI. We go on to describe the most common benign anorectal tumors and developmental cystic lesions, together with their differential diagnoses, as well as congenital and acquired anomalies of the anorectal sphincter complex. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

Congenital extrahepatic portosystemic venous shunt: imaging features.

PubMed

Kandpal, H; Sharma, R; Arora, N K; Gupta, S D

2007-09-01

Congenital extrahepatic portosystemic venous shunt (CEPS) is a rare anomaly. It causes metabolic derangements and is often associated with liver tumours and other anomalies. Imaging plays an important role in the diagnosis of CEPS. However, it may be misleading in determining the type of shunt. We present a six-year-old girl with CEPS to illustrate the importance of histology in determining the presence of portal veins in the portal triad, which were too small to be seen on imaging.

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

PubMed Central

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

1995-01-01

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

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

PubMed

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

2015-01-01

Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

PubMed

Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert

2018-03-01

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

Change in prevalence of congenital defects in children with Prader-Willi syndrome.

PubMed

Torrado, M; Foncuberta, M E; Perez, M F de Castro; Gravina, L P; Araoz, H V; Baialardo, E; Chertkoff, L P

2013-02-01

The aim of this study was to assess the prevalence of congenital defects observed in patients with Prader-Willi syndrome (PWS) and to compare this prevalence with that described in the general population. In addition, these findings were correlated with the different etiologic subtypes. A total of 180 children with PWS followed for 13 years were included in this study. Diagnosis was confirmed by the methylation test, and genetic subtypes were established by using fluorescence in situ hybridization or multiplex ligation-dependent probe amplification and microsatellite analyses. The prevalence of congenital defects was compared with national and international registries of congenital defects in the general population (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas, European Surveillance of Congenital Anomalies, and the New York Registry). Twenty-two percent of the patients presented congenital defects with a risk of 5.4 to 18.7 times higher than that of the general population. The most frequent congenital defects were heart defects, renoureteral malformations, vertebral anomalies, hip dysplasia, clubfoot, and agenesis/hypoplasia of the corpus callosum. Each of these congenital defects was significantly more frequent in the children with PWS than in the general population. The congenital heart defects were more frequent in girls than in boys with PWS. No significant differences were found when the defects were correlated with the different etiologic subtypes. An increased prevalence of congenital defects was found in our PWS patients. This finding suggests the need for further studies in PWS children that allow physicians to detect the congenital defects found in this series and, thus, to anticipate complications, with the ultimate aim of enhancing the management of PWS patients.

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

Vascular anomalies of the head and neck: a review of genetics.

PubMed

Yadav, Prashant; De Castro, Dawn K; Waner, Milton; Meyer, Lutz; Fay, Aaron

2013-01-01

Vascular anomalies comprise malformations, hemangiomas, and rare tumors. The commonality among these lesions is their origin in vascular endothelia. Most occur sporadically, but occasional inheritance is observed and thus allows genetic research and insight into etiology. This review highlights those vascular anomalies in which genetic inheritance has been demonstrated. A comprehensive literature search was performed on PubMed. Fifty-five full-length articles were reviewed. Five categories of vascular anomalies with patterned inheritance were identified: arteriovenous malformation (AVM), capillary malformation (CM), lymphatic malformation (LM), venous malformation (VM), and infantile hemangioma (IH). Capillary and arteriovenous malformation subtypes are associated with a RASA-1 gene mutation and show autosomal dominant inheritance. VEGFR3 mutations have been associated with generalized forms of LM and lymphedema. Mutations in TIE2/TEK genes cause inherited forms of venous malformations also with autosomal dominant inheritance. Familial clustering and atopic disease are associated with infantile hemangioma, and gene expression varies with the developmental stage of these lesions. Most vascular anomalies occur sporadically, but several genes and genetic disorders have been associated with them. Specific forms of capillary malformation appear to be most convincingly associated with genomic errors. Further research promises new insights into the development of this diverse group of disorders.

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.

PubMed

Sansović, Ivona; Ivankov, Ana-Maria; Bobinec, Adriana; Kero, Mijana; Barišić, Ingeborg

2017-06-14

To determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectual disability (ID), autism spectrum disorders (ASD) and congenital anomalies (CA). CMA analysis was performed in 337 patients with DD/ID with or without dysmorphism, ASD, and/or CA. In 30 of 337 patients, chromosomal imbalances had previously been detected by classical cytogenetic and molecular cytogenetic methods. In 73 of 337 patients, clinically relevant variants were detected and better characterized. Most of them were >1 Mb. Variants of unknown clinical significance (VOUS) were discovered in 35 patients. The most common VOUS size category was <300 kb (40.5%). Deletions and de novo imbalances were more frequent in pathogenic CNV than in VOUS category. CMA had a high diagnostic yield of 43/307, excluding patients previously detected by other methods. CMA was valuable in establishing the diagnosis in a high proportion of patients. Criteria for classification and interpretation of CNVs include CNV size and type, mode of inheritance, and genotype-phenotype correlation. Agilent ISCA v2 Human Genome 8x60 K oligonucleotide microarray format proved to be reasonable resolution for clinical use, particularly in the regions that are recommended by the International Standard Cytogenomic Array (ISCA) Consortium and associated with well-established syndromes.

Branchial anomalies in children.

PubMed

Bajaj, Y; Ifeacho, S; Tweedie, D; Jephson, C G; Albert, D M; Cochrane, L A; Wyatt, M E; Jonas, N; Hartley, B E J

2011-08-01

Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years. All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study. In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome. Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type

Congenital Toxoplasmosis: A Review.

PubMed

Hampton, Marissa Martinez

2015-01-01

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

Waste incineration and adverse birth and neonatal outcomes: a systematic review.

PubMed

Ashworth, Danielle C; Elliott, Paul; Toledano, Mireille B

2014-08-01

Public concern about potential health risks associated with incineration has prompted studies to investigate the relationship between incineration and risk of cancer, and more recently, birth outcomes. We conducted a systematic review of epidemiologic studies evaluating the relationship between waste incineration and the risk of adverse birth and neonatal outcomes. Literature searches were performed within the MEDLINE database, through PubMed and Ovid interfaces, for the search terms; incineration, birth, reproduction, neonatal, congenital anomalies and all related terms. Here we discuss and critically evaluate the findings of these studies. A comprehensive literature search yielded fourteen studies, encompassing a range of outcomes (including congenital anomalies, birth weight, twinning, stillbirths, sex ratio and infant death), exposure assessment methods and study designs. For congenital anomalies most studies reported no association with proximity to or emissions from waste incinerators and "all anomalies", but weak associations for neural tube and heart defects and stronger associations with facial clefts and urinary tract defects. There is limited evidence for an association between incineration and twinning and no evidence of an association with birth weight, stillbirths or sex ratio, but this may reflect the sparsity of studies exploring these outcomes. The current evidence-base is inconclusive and often limited by problems of exposure assessment, possible residual confounding, lack of statistical power with variability in study design and outcomes. However, we identified a number of higher quality studies reporting significant positive relationships with broad groups of congenital anomalies, warranting further investigation. Future studies should address the identified limitations in order to help improve our understanding of any potential adverse birth outcomes associated with incineration, particularly focussing on broad groups of anomalies, to inform

Pyloric duplications: review and case study.

PubMed

Cooper, S; Abrams, R S; Carbaugh, R A

1995-12-01

Gastric duplications are unusual congenital anomalies that often require surgical treatment. Pyloric duplications are particularly rare; few are reported in the English literature. This article reviews the literature on pyloric duplications and describes a pyloric duplication associated with hypertrophic pyloric stenosis in a 5-week-old child and a duplication that recurred 7 years later.

Genome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies.

PubMed

Cogulu, O; Pariltay, E; Koroglu, O A; Aykut, A; Ozyurek, R; Levent, E; Kultursay, N; Ozkinay, F

2013-01-01

Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR Identifiler PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.

[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.

Ebstein's anomaly in children: a single-center study in Angola.

PubMed

Manuel, Valdano; Morais, Humberto; Magalhães, Manuel Pedro; Nunes, Maria Ana Sampaio; Leon, Gilberto; Ferreira, Manuel; Filipe Júnior, António Pedro

2015-10-01

Ebstein's anomaly is a rare complex congenital heart defect of the tricuspid valve. We aimed to describe the frequency, clinical profile, and early and short-term post-operative results in patients under the age of 18 years operated for this anomaly in a tertiary center in Angola. A retrospective cross-sectional study was conducted over a period of 37 months. We analyzed all patients diagnosed with congenital heart defects. Of the 1362 patients studied, eight (0.6%) had Ebstein's anomaly; six patients (75%) were female. Mean age was 69±59 months. Five patients were in NYHA functional class III or IV. Mean cardiothoracic index was 0.72. Seven patients (87.5%) had severe tricuspid regurgitation and five (62.5%) had another associated congenital heart defect. All patients were operated: two had complications and one (12.5%) died in the early post-operative period. The mean follow-up time was 1.22±0.6 years, and mortality during follow-up was 12.5% (n=1). At the end of the study, of the five patients in whom cone reconstruction was performed, four (80%) were in functional class I. Mean cardiothoracic index decreased to 0.64. Three patients had mild and two had moderate tricuspid regurgitation. The patient who underwent cone reconstruction and a Glenn procedure was in functional class I. The frequency of Ebstein's anomaly was similar to that in other centers. Cone reconstruction was viable in the majority of patients, with good early and short-term results. Copyright © 2015 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Outcome of ventilated infants born at term without major congenital abnormalities.

PubMed

Ramadan, Ghada; Paul, Nicola; Morton, Margaret; Peacock, Janet L; Greenough, Anne

2012-02-01

The longer-term outcome of term-born infants without congenital anomalies requiring ventilation in the first 24 h after birth has rarely been reported. Our aims were to determine the mortality and long-term morbidity of such infants and identify risk factors for adverse outcome. The outcomes of 43 of 45 infants born at term consecutively requiring mechanical ventilation were reviewed. The infants had: meconium aspiration syndrome (n = 11), hypoxic ischaemic encephalopathy (HIE) (n = 11), respiratory depression (n = 12), sepsis (n = 5), persistent pulmonary hypertension of the newborn (n = 3) and middle cerebral artery infarction (n = 1). Eleven infants developed seizures (26%), 13 (30%) had abnormal electroencephalograms and 11 (26%) had abnormal MRI scans; 26% had an adverse outcome: six died, and five had severe neurodisability at 2 years. The infants with congenital toxoplasmosis and a middle cerebral artery infarction were excluded from the prediction analysis. In the remaining 41 patients, requirement for anticonvulsants (relative risk, RR = 4.44, 95% CI = 1.48 to 12.70; p = 0.014) and prolonged ventilation (longer than 3 days) (RR 4.83, 95% CI 1.51 to 15.64) predicted adverse outcome. Infants with HIE had an increased risk of adverse outcome (relative risk 5.45, 95% CI 1.01 to 33.85), but an adverse outcome occurred in infants with other diagnoses. Mortality and neurodisability at follow-up were common in infants born at term without major congenital anomalies who required mechanical ventilation in the first 24 h after birth, particularly in those who developed seizures requiring treatment and prolonged ventilation.

Prevalence of associated extracardiac malformations in the congenital heart disease population.

PubMed

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

2014-10-01

The authors hypothesized that changes in prenatal factors such as termination of pregnancy for fetal anomalies and prenatal vitamin supplementation have altered the epidemiology of patients with multiple congenital anomalies and may have had an impact on their prevalence in the current era. This study reviewed the Nationwide Inpatient Sample database from 1998 to 2008 and compared the prevalence of ECM among live births with a CHD diagnosis (case) and that among live births without a CHD diagnosis (control). For this study, 42 ECM and 10 CHD diagnoses were selected for subanalysis. Longitudinal analysis also was performed to determine temporal variation of ECM prevalence in the CHD population during the 11-year study period. The cohort in this study consisted of 97,154 patients in the case group and 12,078,482 subjects in the control group. The prevalences in the CHD population were 11.4 % for nonsyndromic congenital malformation (NSCM), 2.2 % for genetic syndrome (GS), and 13.6 % for overall extracardiac congenital malformation (ECM). The prevalences in the control group were 6.7 % for NSCM, 0.3 % for GS, and 7.0 % for ECM. The findings showed a strong association of NSCM [odds ratio (OR) 1.88; 95 % confidence interval (CI) 1.73-1.94], GS (OR 2.52; 95 % CI 2.44-2.61), and overall ECM (OR 2.01; 95 % CI 1.97-2.14) with CHD. The prevalences of GS and multiple organ system CM decreased significantly during the study period. This study was the largest and most comprehensive population-based study to evaluate the association between CHD and ECM in newborns.

Fetal Urinary Tract Anomalies: Review of Pathophysiology, Imaging, and Management.

PubMed

Mileto, Achille; Itani, Malak; Katz, Douglas S; Siebert, Joseph R; Dighe, Manjiri K; Dubinsky, Theodore J; Moshiri, Mariam

2018-05-01

Common fetal anomalies of the kidneys and urinary tract encompass a complex spectrum of abnormalities that can be detected prenatally by ultrasound. Common fetal anomalies of the kidneys and urinary tract can affect amniotic fluid volume production with the development of oligohydramnios or anhydramnios, resulting in fetal pulmonary hypoplasia and, potentially, abnormal development of other fetal structures. We provide an overview of common fetal anomalies of the kidneys and urinary tract with an emphasis on sonographic patterns as well as pathologic and postnatal correlation, along with brief recommendations for postnatal management. Of note, we render an updated classification of fetal abnormalities of the kidneys and urinary tract based on the presence or absence of associated urinary tract dilation. In addition, we review the 2014 classification of urinary tract dilation based on the Linthicum multidisciplinary consensus panel.

Paediatric cardiac rehabilitation in congenital heart disease: a systematic review.

PubMed

Tikkanen, Ana Ubeda; Oyaga, Ainhoa Rodriguez; Riaño, Olga Arroyo; Álvaro, Enrique Maroto; Rhodes, Jonathan

2012-06-01

Advances in medical and surgical care have contributed to an important increase in the survival rates of children with congenital heart disease. However, survivors often have decreased exercise capacity and health-related issues that affect their quality of life. Cardiac Rehabilitation Programmes have been extensively studied in adults with acquired heart disease. In contrast, studies of children with congenital heart disease have been few and of limited scope. We therefore undertook a systematic review of the literature on cardiac rehabilitation in children with congenital heart disease to systematically assess the current evidence regarding the use, efficacy, benefits, and risks associated with this therapy and to identify the components of a successful programme. We included studies that incorporated a cardiac rehabilitation programme with an exercise training component published between January, 1981 and November, 2010 in patients under 18 years of age. A total of 16 clinical studies were found and were the focus of this review. Heterogeneous methodology and variable quality was observed. Aerobic and resistance training was the core component of most studies. Diverse variables were used to quantify outcomes. No adverse events were reported. Cardiac Rehabilitation Programmes in the paediatric population are greatly underutilised, and clinical research on this promising form of therapy has been limited. Questions remain regarding the optimal structure and efficacy of the programmes. The complex needs of this unique population also mandate that additional outcome measures, beyond serial cardiopulmonary exercise testing, be identified and studied.

Treatment alternatives of congenital hand differences with thumb hypoplasia involvement.

PubMed

Papadogeorgou, Ellada V; Soucacos, Panayotis N

2008-01-01

Congenital thumb hypoplasia is a complex and heterogeneous congenital difference that is detrimental to hand function. Apart from its' classic form, which is now considered to be part of radial dysplasia, it can occur as part of other congenital anomalies including, syndactyly, symbrachydactyly, atypical cleft hand, bifid thumb, triphalangeal thumb, mirror hand, constriction band syndrome, as well as generalized anomalies and syndromes. Management is aimed primarily at restoring basic hand function, specifically, power grasp and precision pinch, and secondarily to improve cosmoses, which inevitably is going to be impaired. Several treatment alternatives have been proposed to manage the specific disabling condition and include, 1st web space reconstruction and opponensplasty, pollicization, toe-to-hand transfer, distraction lengthening, free toe phalangeal transfer or the use of allograft, stabilization of the metacarpophalangeal joint, and surgery of "spare parts." The purpose of this study is to evaluate the various alternatives available today and propose an algorithm applicable for the appropriate management of thumb deficiency, based on their specific characteristics. Copyright 2008 Wiley-Liss, Inc. Microsurgery, 2008.

An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

PubMed

Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

2018-05-01

Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

Congenital aural atresia.

PubMed

Abdel-Aziz, Mosaad

2013-07-01

Congenital aural atresia is a spectrum of ear deformities present at birth that involves some degree of failure of the development of the external auditory canal. This malformation may be associated with other congenital anomalies; it occurs as a result of abnormal development of the first and second branchial arches and the first branchial cleft and most often occurs sporadically, although the disease may be manifested in different syndromes. Congenital aural atresia is considered one of the most difficult and challenging surgeries for the otologic surgeon. The goals of atresia surgery are to restore functional hearing, preferably without the requirement of a hearing aid, and to reconstruct a patent, infection-free external auditory canal. The repair is usually done at the age of 6 years, so children with bilateral atresia may need hearing amplification in the first few weeks of life until the age at surgery. To optimize the surgical outcome, careful audiological and radiological evaluation of the patient should be performed preoperatively. Also, postoperative frequent packing and regular follow-up are mandatory to avoid restenosis and infection of the newly created canal. With careful intraoperative dissection and regular follow-up, complications of surgery can be avoided.

Congenital portosystemic shunt: our experience.

PubMed

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.

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

Liver resection for the treatment of a congenital intrahepatic portosystemic venous shunt.

PubMed

Papamichail, Michail; Ali, Amir; Quaglia, Alberto; Karani, John; Heaton, Nigel

2016-06-01

Intrahepatic portosystemic shunts (IPSS) are rare congenital anomalies arising from disordered portal vein embryogenesis. It has been described in both children and adults and may be asymptomatic or be associated with a variety of neurophysiological and pulmonary complications. When recognized, early intervention to occlude the shunt will reverse the associated complications. Literature review reports of surgical and radiological occlusion of the shunt, but due to its rarity, a standard therapeutic protocol has not been established. A case of a 38-year-old woman with abdominal pain and low grade encephalopathy, diagnosed with an IPSS and treated by right hepatectomy was reported.

[Genetics of congenital heart diseases].

PubMed

Bonnet, Damien

2017-06-01

Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

PubMed

Johnson, V P

1975-01-01

This paper reports two siblings with the Smith-Lemli-Opitz syndrome and reviews the literature on the subject. SLOS is a syndrome of multiple congenital anomalies with mental and growth retardation, unusual facies, genito-urinary and hand and foot abnormalities inherited as an autosomal recessive trait.

Oropharyngeal trauma mimicking a first branchial cleft anomaly.

PubMed

Larem, Aisha; Sheikh, Rashid; Al Qahtani, Abdulsalam; Khais, Frat; Ganesan, Shanmugam; Haidar, Hassan

2016-06-01

We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted. In addition to exploring the existing literature, we retrospectively analyzed a plausible explanation of the findings of this case. Laryngoscope, 126:E224-E226, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome.

PubMed

Herens, C; Jamar, M; Alvarez-Gonzalez, M L; Lesenfants, S; Lombet, J; Bonnivert, J; Koulischer, L; Verloes, A

1997-12-12

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques.

Portal vascular anomalies in Down syndrome: spectrum of clinical presentation and management approach.

PubMed

Golewale, Nazar; Paltiel, Harriet J; Fishman, Steven J; Alomari, Ahmad I

2010-08-01

The occurrence of portal vascular anomalies in Down syndrome has been sporadically reported in the literature. These rare disorders have a wide spectrum of anatomical and clinical presentations. The aim of this communication was to describe the clinical course, imaging features, and management approaches in patients with this association. We conducted a comprehensive search of the databases of the Vascular Anomalies Center and the Department of Radiology at Children's Hospital Boston for patients with Down syndrome and portal vascular anomalies. Medical records and imaging studies of varying modalities were reviewed. Three children with Down syndrome and portal anomalies (portosystemic shunt, simple arterioportal shunt, complex arterioportal shunt) were managed at our institution. The portosystemic shunt was clinically insignificant and resolved without any intervention. The simple arterioportal shunt was successfully treated with embolization. The complex arterioportal shunt was associated with major congenital cardiac defects and the child ultimately expired despite a decrease in the arterioportal shunting after embolization. Three is a wide spectrum of clinical and anatomical features of portal vascular shunts in Down syndrome. The management approach should be tailored based on the severity of symptoms. Percutaneous embolization can offer a safe, effective, and minimally invasive alternative to the surgical approach in selective cases. Copyright 2010 Elsevier Inc. All rights reserved.

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

Third branchial cleft anomaly presenting as a retropharyngeal abscess.

PubMed

Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L

2000-08-31

Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.

Case-control analysis of paternal age and trisomic anomalies.

PubMed

De Souza, E; Morris, J K

2010-11-01

To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome. Case-control: cases with each of these syndromes were matched to four controls with Down syndrome from within the same congenital anomaly register and with maternal age within 6 months. Data from 22 EUROCAT congenital anomaly registers in 12 European countries. Diagnoses with observed or (for terminations) predicted year of birth from 1980 to 2005, comprising live births, fetal deaths with gestational age ≥ 20 weeks and terminations after prenatal diagnosis of the anomaly. Data include 374 cases of Patau syndrome, 929 of Edwards syndrome, 295 of Klinefelter syndrome, 28 of XYY syndrome and 5627 controls with Down syndrome. Odds ratio (OR) associated with a 10-year increase in paternal age for each anomaly was estimated using conditional logistic regression. Results were adjusted to take account of the estimated association of paternal age with Down syndrome (1.11; 95% CI 1.01 to 1.23). The OR for Patau syndrome was 1.10 (95% CI 0.83 to 1.45); for Edwards syndrome, 1.15 (0.96 to 1.38); for Klinefelter syndrome, 1.35 (1.02 to 1.79); and for XYY syndrome, 1.99 (0.75 to 5.26). There was a statistically significant increase in the odds of Klinefelter syndrome with increasing paternal age. The larger positive associations of Klinefelter and XYY syndromes with paternal age compared with Patau and Edwards syndromes are consistent with the greater percentage of these sex chromosome anomalies being of paternal origin.

Angle closure glaucoma in congenital ectropion uvea.

PubMed

Wang, Grace M; Thuente, Daniel; Bohnsack, Brenda L

2018-06-01

Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

Remote Magnetic Navigation for Catheter Ablation in Patients With Congenital Heart Disease: A Review.

PubMed

Roy, Karine; Gomez-Pulido, Federico; Ernst, Sabine

2016-03-01

In patients with congenital heart disease, challenges to catheter-based arrhythmia interventions are unique and numerous given the complexity of the underlying defects, anatomic and surgical intervention variants including baffles, conduits, patches, and/or shunts. Remote magnetic navigation offers significant advantages in these cases that may present with limited vascular access or difficult access to the target cardiac chambers implicated by the previous surgical interventions. We reviewed the data available on the safety, feasibility, and effectiveness of magnetic navigation for the treatment of arrhythmia in congenital heart disease and discussed the specific challenges related to various congenital defects and repair with the potential advantages offered by magnetic navigation in these circumstances. © 2016 Wiley Periodicals, Inc.

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.

PubMed

Gamba, Bruno F; Zechi-Ceide, Roseli M; Kokitsu-Nakata, Nancy M; Vendramini-Pittoli, Siulan; Rosenberg, Carla; Krepischi Santos, Ana C V; Ribeiro-Bicudo, Lucilene; Richieri-Costa, Antonio

2016-11-01

We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings. A few genes within the deleted region are associated with congenital anomalies, mainly the RBM8A , DUF1220 , and HYDIN2 paralogs. Our patient presents with a spectrum of unusual malformations of 1q21.1 deletion syndrome not reported up to date.

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

PubMed Central

Gamba, Bruno F.; Zechi-Ceide, Roseli M.; Kokitsu-Nakata, Nancy M.; Vendramini-Pittoli, Siulan; Rosenberg, Carla; Krepischi Santos, Ana C.V.; Ribeiro-Bicudo, Lucilene; Richieri-Costa, Antonio

2016-01-01

We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings. A few genes within the deleted region are associated with congenital anomalies, mainly the RBM8A, DUF1220, and HYDIN2 paralogs. Our patient presents with a spectrum of unusual malformations of 1q21.1 deletion syndrome not reported up to date. PMID:27920638

Oculoauriculovertebral spectrum with radial anomaly in child.

PubMed

Taksande, Amar; Vilhekar, Krishna

2013-01-01

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

Clinical profile of congenital rubella syndrome in Yogyakarta, Indonesia.

PubMed

Herini, Elisabeth S; Gunadi; Triono, Agung; Wirastuti, Fita; Iskandar, Kristy; Mardin, Niprida; Soenarto, Yati

2018-02-01

Congenital rubella syndrome (CRS) has many severe neurological manifestations and other systemic consequences. Although various studies have been done in Indonesia, there are no conclusive results on CRS incidence. The aim of this study was therefore to investigate the incidence, clinical manifestations and outcomes of CRS in Yogyakarta, Indonesia. A descriptive study involving a review of congenital anomalies associated with CRS was carried out at Dr Sardjito Hospital, Yogyakarta, Indonesia, from July 2008 to June 2013. CRS was categorized according to the World Health Organization (WHO) classification. This study involved children aged <1 year old, and was conducted at the outpatient clinic, pediatric and neonatology wards. A total of 201 children met the criteria for suspected CRS during the 5 year study. Of those patients, 6% were classified as having laboratory-confirmed CRS, 21.4% as having clinically compatible CRS, and 72.6% as having discarded CRS (i.e. a suspected case that does not meet the criteria for CRS). The estimated incidence of laboratory-confirmed CRS and laboratory-confirmed and clinically compatible CRS in Yogyakarta, Indonesia during the study period was 0.05:1,000 and 0.25:1,000 live births, respectively. Of the laboratory-confirmed CRS patients, 83.3% of children had congenital heart disease (CHD), 75% had hearing impairment, 66.7% had congenital cataract and 50% had microcephaly. Furthermore, none of the mothers was vaccinated against rubella. The incidence of CRS in infants in Yogyakarta Indonesia is considered high, with most clinical manifestations being CHD, hearing impairment and congenital cataract. This emphasizes the necessity for epidemiological study of CRS in other hospitals and the importance of establishing a national rubella vaccination program in Indonesia. © 2017 Japan Pediatric Society.

Congenital hypertrophy of multiple intrinsic muscles of the foot.

PubMed

Shiraishi, Tomohiro; Park, Susam; Niu, Atushi; Hasegawa, Hiromi

2014-12-01

Congenital hypertrophy of a single intrinsic muscle of the foot is rare, and as far as we know, only six cases have been reported. We describe a case of congenital anomaly that showed hypertrophy of multiple intrinsic muscles of the foot; the affected muscles were all the intrinsic muscles of the foot except the extensor digitorum brevis or extensor hallucis. Other tissues such as adipose tissue, nervous tissue, or osseous tissue showed no abnormalities. To reduce the volume of the foot we removed parts of the enlarged muscles.

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.

PubMed

Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca; Barisic, Ingeborg; Bermejo-Sánchez, Eva; Bianchi, Fabrizio; Calzolari, Elisa; Carbone, Pietro; Curran, Rhonda; Garne, Ester; Gatt, Miriam; Latos-Bieleńska, Anna; Khoshnood, Babak; Irgens, Lorentz; Mantovani, Alberto; Martínez-Frías, Maria Luisa; Neville, Amanda; Rißmann, Anke; Ruggeri, Stefania; Wellesley, Diana; Dolk, Helen

2014-01-01

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe. © 2014 S. Karger AG, Basel.

Congenital Diaphragmatic Hernia: The Side of Diaphragmatic Defect and Associated Nondiaphragmatic Malformations.

PubMed

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

2017-07-01

Background  Congenital diaphragmatic hernia (CDH) has different clinical presentations depending on whether it is right sided (R-CDH) or left sided (L-CDH). Some have suggested that L-CDH and R-CDH may represent different syndromic phenotypes. This theory would be indirectly supported if different nondiaphragmatic anomalies were associated with laterality. We assessed whether CDH laterality is associated with specific types of nondiaphragmatic anomalies. Methods  Cases of CDH were retrospectively identified from five centers, and associated congenital anomalies, prenatal diagnosis, demographics, birth characteristics, and side of the CDH were analyzed. CDH characteristics were summarized according to the absence (isolated) or presence (complex) of nondiaphragmatic malformations. Results  Among 228 neonates with CDH, 140 (61%) had isolated CDH and 88 (39%) had complex CDH. Complex CDH was significantly associated with being small for gestational age (odds ratio [95% confidence interval, CI]: 8.3 [1.9-35.7]; p  = 0.005) and having L-CDH (odds ratio [95% CI]: 3.6 [1.5-8.9]; p  = 0.005). The overall proportion with anomalies differed by side (42% for L-CDH, 23% for R-CDH; p  = 0.02), but the rates of anomalies in specific organ systems did not differ. Conclusion  The rate of associated nondiaphragmatic anomalies by specific organ system did not differ between L-CDH and R-CDH, which suggests that they represent the same phenotypic entity. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Penile anomalies in adolescence.

PubMed

Wood, Dan; Woodhouse, Christopher

2011-03-07

This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as exstrophy/epispadias) are discussed, including the psychological outcomes, common problems (such as corporal asymmetry, chordee, and scarring) in this group, and surgical assessment for potential surgical candidates. The emergence of new surgical techniques continues to improve outcomes and potentially raises patient expectations. The importance of balanced discussion in conditions such as micropenis, including multidisciplinary support for patients, is important in order to achieve appropriate treatment decisions. Topical treatments may be of value, but in extreme cases, phalloplasty is a valuable option for patients to consider. In buried penis, the importance of careful assessment and, for the majority, a delay in surgery until puberty has completed is emphasised. In hypospadias patients, the variety of surgical procedures has complicated assessment of outcomes. It appears that true surgical success may be difficult to measure as many men who have had earlier operations are not reassessed in either puberty or adult life. There is also a brief discussion of acquired penile anomalies, including causation and treatment of lymphoedema, penile fracture/trauma, and priapism.

Congenital middle ear abnormalities with absence of the oval window: diagnosis, surgery, and audiometric outcomes.

PubMed

Su, Yu; Yuan, Hu; Song, Yue-shuai; Shen, Wei-dong; Han, Wei-ju; Liu, Jun; Han, Dong-yi; Dai, Pu

2014-08-01

Congenital absence of the oval window (CAOW) is a rare condition in which the stapes footplate fails to develop, resulting in a significant conductive hearing loss in the affected ear. The purpose of this study was to describe the surgical management and outcomes of patients with CAOW undergoing the oval window drill-out (OWD) procedure. A retrospective chart review of patients with CAOW between 1996 and 2011 was performed. Clinical data of patients who underwent OWD were collected. Seventy-nine patients (103 ears) were confirmed using exploratory tympanotomy as having congenital stapes anomalies and CAOW without any anomalies of the tympanic membrane and external auditory canal. Demographic data, CT findings, operative findings, complications, and preoperative/postoperative audiometry data of patients who underwent OWD were collected. The preoperative and postoperative audiologic findings were analyzed in 42 patients (56 ears) with complete data. Hearing restoration surgery was aborted for various reasons in 14 cases. Six patients underwent revision operations for worsening hearing after their first surgery. The average preoperative 4 tone air conduction threshold was 67 dB; the average 6-month postoperative four tone air conduction threshold was 49 dB, and the average postoperative hearing gain was 18 dB. For the 56 ears, the average 4 tone air conduction threshold 6 months after surgery was significantly lower than the preoperative threshold. The oval window drill-out procedure is a viable operation for patients with congenital absence of the oval window, and it is important for surgeons to develop personalized treatment programs to improve patients' hearing with minimal complications.

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schimmenti, L.A.; Pierpont, M.E.; Carpenter, B.L.M.

1995-11-06

We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene. 16 refs., 3 figs.

Three-dimensional printing in congenital heart disease: A systematic review.

PubMed

Lau, Ivan; Sun, Zhonghua

2018-02-17

Three-dimensional (3D) printing has shown great promise in medicine with increasing reports in congenital heart disease (CHD). This systematic review aims to analyse the main clinical applications and accuracy of 3D printing in CHD, as well as to provide an overview of the software tools, time and costs associated with the generation of 3D printed heart models. A search of different databases was conducted to identify studies investigating the application of 3D printing in CHD. Studies based on patient's medical imaging datasets were included for analysis, while reports on in vitro phantom or review articles were excluded from the analysis. A total of 28 studies met selection criteria for inclusion in the review. More than half of the studies were based on isolated case reports with inclusion of 1-12 cases (61%), while 10 studies (36%) focused on the survey of opinion on the usefulness of 3D printing by healthcare professionals, patients, parents of patients and medical students, and the remaining one involved a multicentre study about the clinical value of 3D printed models in surgical planning of CHD. The analysis shows that patient-specific 3D printed models accurately replicate complex cardiac anatomy, improve understanding and knowledge about congenital heart diseases and demonstrate value in preoperative planning and simulation of cardiac or interventional procedures, assist surgical decision-making and intra-operative orientation, and improve patient-doctor communication and medical education. The cost of 3D printing ranges from USD 55 to USD 810. This systematic review shows the usefulness of 3D printed models in congenital heart disease with applications ranging from accurate replication of complex cardiac anatomy and pathology to medical education, preoperative planning and simulation. The additional cost and time required to manufacture the 3D printed models represent the limitations which need to be addressed in future studies. © 2018 The Authors

[Polythelia as a sign of other congenital malformations: a clinical example].

PubMed

Colombo, M; Maestri, L; Lambiase, R; Magni, L A

1994-01-01

The authors describe the clinical history of a girl with severe chronic constipation due to anterior ectopic anus, associated with supernumerary nipples. The authors underline the importance of possible associations between supernumerary nipples and other congenital anomalies.

Congenital abnormalities in newborns of consanguineous and nonconsanguineous parents.

PubMed

Naderi, S

1979-02-01

The aim of this study was to determine the types, patterns, and frequencies of congenital anomalies among newborns of both consanguineous and nonconsanguineous parents in southern Iran. From 9526 consecutive pregnancies observed, 9623 newborns resulted (9431 singleton and 95 sets of multiple gestation). There were 7261 newborns from nonconsanguineous parents and 2362 (24.5%) babies from consanguineous marriages. Of the total pregnancies, 1.54% resulted in malformed children (1.53% of singleton and 2.1% of multiple gestations). The incidence of congenital abnormalities in newborns of nonconsanguineous parents was 1.66% as compared to 4.02% for newborns of the consanguineous group. Major and multiple malformations were found to be slightly more common in the consanguinous group. Prematurity, prenatal mortality rate, and congenital abnormalities were more common in the consanguineous group. Probably the closer the familial relationship of the parents, the greater the chances of congenital abnormalities.

Dandy-Walker syndrome: a review of fifteen cases evaluated by prenatal sonography.

PubMed

Russ, P D; Pretorius, D H; Johnson, M J

1989-08-01

Fifteen cases of the Dandy-Walker syndrome evaluated by prenatal sonography were reviewed retrospectively. A posterior fossa cyst communicating with the fourth ventricle was a feature in each case. Hydrocephalus was present in 53% of fetuses. Extracranial congenital malformations were documented in 60% of cases. Cardiac, genitourinary, gastrointestinal, and skeletal anomalies were noted. Of 12 available karyotypes, 4 (33%) were abnormal, including two cases of trisomy 18. Excluding terminated pregnancies, there was an overall mortality of 55%. Associated congenital defects contributed to 83% of the postnatal deaths. The Dandy-Walker syndrome can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes in the fetal posterior fossa. The prenatal examination should include an evaluation of associated supratentorial and extracranial defects. Coexisting structural and chromosomal anomalies occur frequently and adversely affect survival.

Congenital lesions of epithelial origin.

PubMed

Hills, Susannah E; Maddalozzo, John

2015-02-01

Defects of embryologic development give rise to a variety of congenital lesions arising from the epithelium and are among the most common congenital lesions of the head and neck in the pediatric population. This article presents several congenital lesions of epithelial origin, including congenital midline cervical cleft, pilomatrixoma, dermoid, foregut duplication cysts, and preauricular sinuses and pits. In addition, the management of these lesions is reviewed. Copyright © 2015 Elsevier Inc. All rights reserved.

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

PubMed

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Distribution, Management Difficulty and Outcome of Branchial Anomalies.

PubMed

Sattar, M A; Sultana, M T; Ahmed, S

2018-01-01

Branchial arch anomalies are one of the most common congenital anomalies of the neck. Developmental anomalies of the branchial apparatus account for 17% of all pediatric cervical masses. This study aimed to focus on proper diagnosis of branchial anomaly and describe occurrence, presentation, management and outcome of usual and unusual types. This ten-year prospective observational study was conducted from November 2005 to November 2015 including 2-year postoperative follow-up of the patients in Department of ENT, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh. Total 89 patients were enrolled for this study. Information was recorded on Clinical examination, relevant investigation, Per-operative findings and Histo-pathological findings. After receiving Histo-pathological findings 61 cases were proved as branchial arch anomalies. Ultrasonography and Histopathology was done for every patient. Fistulogram and sinogram was done for patient of fistula and sinus respectively. CT scan was needed for 9 patients, MRI for 3 patients and 12 patient undergone FNAC. Outcomes of those patients were described in terms of Hospital stay, Complications and Follow up studies. Data analysis was done by Standard Statistical Method.Presentation of a number of participant's mimics Branchial arch anomalies; 4.91% was syndromal. Second branchial arch anomalies were the highest. Management was exclusively surgical. Recurrence rate was about 6.56%. Surgery is the tool for diagnosis, treatment, preventing complications, avoiding carcinoma for branchial arch anomalies.

Analysis of renal anomalies in VACTERL association.

PubMed

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

2014-10-01

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 three 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 ultrasound shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health. © 2014 Wiley Periodicals, Inc.

Embolization of congenital intrahepatic porto-systemic shunt by n-butyl cyanoacrylate.

PubMed

Gupta, Vivek; Kalra, Naveen; Vyas, Sameer; Sodhi, K S; Thapa, B R; Khandelwal, N

2009-10-01

Congenital intrahepatic portosystemic venous shunt (IHPSVS) is rare vascular anomaly. We present one case of a 14-month male child who presented with global developmental delay. Child had high ammonia levels with low glutamine and high bile salts on the previous investigations and had history of neonatal seizures since day 13 of life. On admission, serum ammonia levels were elevated to 112micromol/L. Other laboratory investigations including liver and renal function test, and electrolytes were normal. He was, diagnosed to have IHPSVS on the basis of Doppler and CT, and treated by embolization with n-butyl cyanoacrylate (glue). A brief review of diagnostic modalities and endovascular management for the IHPSVS is presented including the present case.

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?

PubMed

Taha, Doris; Barbar, Maha; Kanaan, Hassan; Williamson Balfe, John

2003-10-15

We report on two sibs (of 4) with a syndrome of minor facial anomalies, proportionate IUGR, neonatal non-autoimmune diabetes mellitus (NDM), severe congenital hypothyroidism (CH), cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by large kidneys and multiple small cysts with deficient corticomedullary junction differentiation and normal kidney function. The phenotype observed in the two sibs was identical. Although a combination of liver, kidney, and pancreatic involvement has been described in Ivemark syndrome (hepato-renal-pancreatic syndrome), the coexistence of NDM, CH, and glaucoma in both sibs suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. Mutation analysis for several candidate genes is warranted. Copyright 2003 Wiley-Liss, Inc.

Pictorial Review of Surgical Anatomy in Adult Congenital Heart Disease.

PubMed

De Cecco, Carlo N; Muscogiuri, Giuseppe; Madrid Pérez, José M; Eid, Marwen; Suranyi, Pal; Lesslie, Virginia W; Bastarrika, Gorka

2017-07-01

The survival rate of patients with congenital heart disease (CHD) has dramatically improved over the last 2 decades because of technological and surgical advances in diagnosis and treatment, respectively. The vast majority of CHD patients are, in fact, amenable to treatment by either device closure or surgery. Considering the wide spectrum of surgical procedures and complex native and derived anatomy, continuous and detailed follow-up is of paramount importance. Cardiac magnetic resonance and cardiac computed tomography angiography are the cornerstones of diagnosis and follow-up of CHD, allowing for comprehensive noninvasive assessment of the heart, coronary tree, and intrathoracic great vessels, along with both morphological and functional evaluation. The aim of this pictorial review is to provide an overview of the most common CHDs and their related surgical procedures as familiarity with the radiological findings of grown-up congenital heart disease patients is crucial for proper diagnostic and follow-up pathways.

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.

PubMed

Aleksiūnienė, Beata; Preiksaitiene, Egle; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas

2018-01-01

Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features. © 2018 S. Karger AG, Basel.

Maternal Antiretroviral Use during Pregnancy and Infant Congenital Anomalies: The NISDI Perinatal Study

PubMed Central

Joao, Esau C.; Calvet, Guilherme A.; Krauss, Margot R.; Hance, Laura Freimanis; Ortiz, Javier; Ivalo, Silvina A.; Pierre, Russell; Reyes, Mary; Watts, D. Heather; Read, Jennifer S.

2009-01-01

Background We evaluated the association between maternal antiretrovirals (ARVs) during pregnancy and infant congenital anomalies (CAs), utilizing data from the NISDI Perinatal Study. Methods The study population consisted of first singleton pregnancies on study, ≥ 20 weeks gestation, among women enrolled in NISDI from Argentina and Brazil who delivered between September 2002 and October 2007. CAs were defined as any major structural or chromosomal abnormality, or a cluster of two or more minor abnormalities, according to the conventions of the Antiretroviral Pregnancy Registry. CAs were identified from fetal ultrasound, study visit, and death reports. The conventions of the Antiretroviral Pregnancy Registry were used. Prevalence rates [number of CAs per 100 live births (LBs)] were calculated for specific ARVs, classes of ARVs, and overall exposure to ARVs. Results Of 1229 women enrolled, 995 pregnancy outcomes (974 LBs) met the inclusion criteria. Of these, 60 infants (59 LBs and 1 stillbirth) had at least one CA. The overall prevalence of CAs (per 100 LBs) was 6.2 (95%CI = 4.6, 7.7). The prevalence of CAs after first trimester ARVs (6.2; 95%CI = 3.1, 9.3) was similar to that after second (6.8; 95%CI = 4.5, 9.0) or third trimester (4.3; 95%CI = 1.5, 7.2) exposure. The rate of CAs identified within seven days of delivery was 2.36 (95%CI: 1.4–3.3). Conclusions The prevalence of CAs following first trimester exposure to ARVs was similar to that following second or third trimester exposure. Continued surveillance for CAs among children exposed to ARVs during gestation is needed. PMID:20104119

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

PubMed

Beleza-Meireles, Ana; Steenhaut, Patricia; Hocq, Catheline; Clapuyt, Philippe; Bernard, Pierre; Debauche, Christian; Sznajer, Yves

2017-02-01

"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of "Serpentine-like syndrome". Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental "toolkit"/homeobox gene or related pathways. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Congenital syphilis.

PubMed

Cooper, Joshua M; Sánchez, Pablo J

2018-04-01

Congenital syphilis remains a major public health problem worldwide, and its incidence is increasing in the United States. This review highlights the ongoing problem of this preventable infection, and discusses vertical transmission and clinical manifestations while providing a practical algorithm for the evaluation and management of infants born to mothers with reactive serologic tests for syphilis. Every case of congenital syphilis must be seen as a failure of our public health system to provide optimal prenatal care to pregnant women, as congenital syphilis can be prevented by early and repeated prenatal serologic screening of mothers and penicillin treatment of infected women, their sexual partners, and their newborn infants. Copyright © 2018. Published by Elsevier Inc.

Incidence, types, geographical distribution, and risk factors of congenital anomalies in Al-Ramadi Maternity and Children's Teaching Hospital, Western Iraq.

PubMed

Al-Ani, Zaid R; Al-Haj, Shaker A; Al-Ani, Muhammad M; Al-Dulaimy, Khamees M; Al-Maraie, Ayad Kh; Al-Ubaidi, Belal Kh

2012-09-01

To study the incidence, types, geographical distribution, and risk factors of congenital anomalies (CAs) in a teaching hospital. A total of 5864 neonates were examined for CAs between October 2010 and October 2011 in Al-Ramadi Maternity and Children's Teaching Hospital, Al-Ramadi, Western Iraq. Data include: neonate's name, gender, weight, and type of CAs, mother's age, residence, education, parity, consanguinity, smoking, illness, drugs, and ultrasound (U/S) results, father's age and smoking, and family recurrence of CAs. For every case, 2 controls were selected. Types and incidence of CAs was calculated. Odds ratio and confidence interval was utilized for risk factors evaluation. Overall CA incidences were 40.5/1000 for total births, 40.8/1000 live births, and 270.0/1000 for stillbirths. Twenty percent of CAs was found as multiple, 80% single, 63.8% major, and 36.2% minor. The cardiovascular system was found most affected, followed by genito-urinary system. Low birth weight, male gender, maternal smoking, consanguinity, parity, and CAs family recurrence were found to be significant risk factors, and oligohydramnios, polyhydramnios, and positive CAs by U/S, found as significant co-factors associated with CAs, while parental age, and maternal education were not considered risk factors. Although the incidence of CAs was lower than the Al-Fallujah rate, it is still higher than many developed and developing countries. Amniotic fluid volume changes in U/S may hide an ominous CA, and maternal smoking exposure during pregnancy and consanguinity may expose the family to a congenitally anomalous delivery.

The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies†,‡

PubMed Central

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

2013-01-01

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

Clustering and Recurring Anomaly Identification: Recurring Anomaly Detection System (ReADS)

NASA Technical Reports Server (NTRS)

McIntosh, Dawn

2006-01-01

This viewgraph presentation reviews the Recurring Anomaly Detection System (ReADS). The Recurring Anomaly Detection System is a tool to analyze text reports, such as aviation reports and maintenance records: (1) Text clustering algorithms group large quantities of reports and documents; Reduces human error and fatigue (2) Identifies interconnected reports; Automates the discovery of possible recurring anomalies; (3) Provides a visualization of the clusters and recurring anomalies We have illustrated our techniques on data from Shuttle and ISS discrepancy reports, as well as ASRS data. ReADS has been integrated with a secure online search

Congenital spinal malformations in small animals.

PubMed

Westworth, Diccon R; Sturges, Beverly K

2010-09-01

Congenital anomalies of the spine are common in small animals. The type of deformity, location, severity, time of onset of associated clinical signs, and progression of neurologic dysfunction varies widely. To promote clearer understanding, the authors present the various spinal malformations using modified human classification schemes and use current widely accepted definitions and terminology. The diagnostic approach, including utilization of advanced imaging, and surgical management is emphasized. Copyright 2010. Published by Elsevier Inc.

Maternal Caffeine Consumption and Risk of Congenital Limb Deficiencies

PubMed Central

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

2015-01-01

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

Risk of thromboembolic complications in adult congenital heart disease: A literature review.

PubMed

Karsenty, Clement; Zhao, Alexandre; Marijon, Eloi; Ladouceur, Magalie

2018-05-30

Adult congenital heart disease (ACHD) is a constantly expanding population with challenging issues. Initial medical and surgical treatments are seldom curative, and the majority of patients still experience late sequelae and complications, especially thromboembolic events. These common and potentially life-threating adverse events are probably dramatically underdiagnosed. Better identification and understanding of thromboembolic risk factors are essential to prevent long-term related morbidities. In addition to specific situations associated with a high risk of thromboembolic events (Fontan circulation, cyanotic congenital heart disease), atrial arrhythmia has been recognized as an important risk factor for thromboembolic events in ACHD. Unlike in patients without ACHD, thromboembolic risk stratification scores, such as the CHA 2 DS 2 -VASc score, may not be applicable in ACHD. Overall, after a review of the scientific data published so far, it is clear that the complexity of the underlying congenital heart disease represents a major risk factor for thromboembolic events. As a consequence, prophylactic anticoagulation is indicated in patients with complex congenital heart disease and atrial arrhythmia, regardless of the other risk factors, as opposed to simple heart defects. The landscape of ACHD is an ongoing evolving process, and specific thromboembolic risk scores are needed, especially in the setting of simple heart defects; these should be coupled with specific trials or long-term follow-up of multicentre cohorts. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

True congenital dislocation of shoulder: A case report and review of the literature.

PubMed

Sudesh, Pebam; Rangdal, Sushil; Bali, Kamal; Kumar, Vishal; Gahlot, Nitesh; Patel, Sandeep

2010-10-01

The dislocation of a shoulder joint in infancy is extremely rare and is usually the result of traumatic birth injuries, a sequel to brachial plexus injury, or a true congenital dislocation of shoulder. With more advanced obstetric care, the incidence of first two types has drastically decreased. We report a case of true congenital dislocation of shoulder, second of its kind, in a child who was delivered by cesarean section thereby negating any influence of trauma. We report the case because of its rarity, and review the available literature on this topic. We also discuss the management options when encountered with such a rare case scenario.

Potential implications of the helical heart in congenital heart defects.

PubMed

Corno, Antonio F; Kocica, Mladen J

2007-01-01

The anatomic and functional observations made by Francisco Torrent-Guasp, in particular his discovery of the helical ventricular myocardial band (HVMB), have challenged what has been taught to cardiologists and cardiac surgeons over centuries. A literature debate is ongoing, with interdependent articles and comments from supporters and critics. Adequate understanding of heart structure and function is obviously indispensable for the decision-making process in congenital heart defects. The HVMB described by Torrent-Guasp and the potential impact on the understanding and treatment of congenital heart defects has been analyzed in the following settings: embryology, ventriculo-arterial discordance (transposition of great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and other congenital heart defects. The common structural spiral feature is only one of the elements responsible for the functional interaction of right and left ventricles, and understanding the form/function relationship in congenital heart defects is more difficult than for acquired heart disease because of the variety and complexity of congenital heart defects. Individuals involved in the care of patients with congenital heart defects have to be stimulated to consider further investigations and alternative surgical strategies.

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

PubMed Central

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

2015-01-01

A few studies have suggested an association between maternal exposure to ambient air pollution from vehicular traffic and risk of congenital anomalies in the offspring, but epidemiologic evidence is neither strong nor entirely consistent. In a population-based case-control study in a Northern Italy community encompassing 228 cases of birth defects and 228 referent newborns, we investigated if maternal exposure to PM10 and benzene from vehicular traffic during early pregnancy, as estimated through a dispersion model, was associated with excess teratogenic risk. In conditional logistic regression analysis, and with adjustment for the other pollutant, we found that higher exposure to PM10 but not benzene was associated with increased risk of birth defects overall. Anomaly categories showing the strongest dose-response relation with PM10 exposure were musculoskeletal and chromosomal abnormalities but not cardiovascular defects, with Down syndrome being among the specific abnormalities showing the strongest association, though risk estimates particularly for the less frequent defects were statistically very unstable. Further adjustment in the regression model for potential confounders did not considerably alter the results. All the associations were stronger for average levels of PM10 than for their maximal level. Findings of this study give some support for an excess teratogenic risk following maternal exposure during pregnancy to PM10, but not benzene. Such association appears to be limited to some birth defect categories. PMID:26410719

Classification for congenital anomalies of the hand: the IFSSH classification and the JSSH modification.

PubMed

De Smet, L

2002-01-01

The purpose of a classification for clinical problems which, except for a few specialized centers, occur only sporadically is to provide a system where these cases can be stored. This should allow all involved investigators to speak the same language; so-doing syndromes can be delinated, frequencies of occurence established and results of--different--treatments compared. A classification system should be simple to use, reliable and uniformly accepted. It should allow space for adaptations and/or extensions. The IFSSH proposed a 7 categories classification based on the proposed classification of Swanson et al. in 1976. This classification, was based on, which was thought in the seventies, etiopathogenic pathways. These 7 groups are: I. Failure of formation; transverse (A), or longitudinal (B) II. Failure of differentiation III. Polydactyly IV. Overgrowth V. Undergrowth VI. Amniotic band syndrome VII. Generalized skeletal syndromes. The extended classification proposed by IFSSH was used to classify 1013 hand differences in 925 hands of 650 patients. We found associated anomalies in 26.7%. The classification was straightforward in 86%, difficult in 6.6% and not possible in 7.8%. Group II was the most numerous group including 513 anomalies. We propose to include in this group the Madelung deformity, the Kirner deformity and congenital trigger fingers and trigger thumbs. In group I the radial and ulnar deficiencies, limited to the hand without forearm deficlencies should be Included. Triphalangeal thumbs are a problem, we suggest it to be listed in group III and consider it as a duplication in length. It is not always possible to evaluate the (transverse) absence of the fingers or hand. Longitudinal deficiencies (group IIB), symbrachydactyly (group V), and amniotic bands (group IV) occasionally develop a phenotype similar to the genuine transverse deficiency (group IA). Recently, the Japanese Society for Surgery of the Hand (JSSH) (16) proposed an extension

The concept of double inlet-double outlet right ventricle: a distinct congenital heart disease.

PubMed

Spadotto, Veronica; Frescura, Carla; Ho, Siew Yen; Thiene, Gaetano

The aim of this study was to estimate the incidence and to analyze the anatomy of double inlet-double outlet right ventricle complex and its associated cardiac anomalies in our autopsy series. Among the 1640 hearts with congenital heart disease of our Anatomical Collection, we reviewed the specimens with double inlet-double outlet right ventricle, according to the sequential-segmental analysis, identifying associated cardiac anomalies and examining lung histology to assess the presence of pulmonary vascular disease. We identified 14 hearts with double inlet-double outlet right ventricle (0.85%). Right atrial isomerism was observed in 10 hearts, situs solitus in 3 and left atrial isomerism in one. Regarding the mode of atrioventricular connection, all hearts but one had a common atrioventricular valve. Systemic or pulmonary venous abnormalities were noted in all patients with atrial isomerism. In nine patients a valvular or subvalvular pulmonary stenosis was present. Among the functionally "univentricular hearts", double inlet- double outlet right ventricle represents a peculiar entity, mostly in association with right atrial isomerism. Multiple cardiac anomalies are associated and may complicate surgical repair. Copyright © 2016 Elsevier Inc. All rights reserved.

Evaluation of developmental dental anomalies in digital panoramic radiographs in Southeast Iranian Population.

PubMed

Saberi, Eshagh Ali; Ebrahimipour, Sediqe

2016-01-01

The objective of this study was to evaluate the prevalence of dental developmental anomalies in digital panoramic radiographs of the patients referred to the Zahedan medical imaging center and to evaluate the frequency of anomalies regarding the disorders in shape, position and number in the Southeast of Iran. A total of 1172 panoramic radiographs from 581 males and 586 females aged over 16 years were obtained from the files of the Zahedan medical imaging center between the years of 2014 and 2015. The selected radiographs were evaluated in terms of the anomalies such as dilacerations, taurodontism, supernumerary teeth, congenitally missing teeth, fusion, gemination, tooth impaction, tooth transposition, dens invagination, and peg lateral. Then, the anomalies were compared to each other regarding the frequency of the anomaly type (morphological, positional and numerical). Data were evaluated using descriptive statistics such as frequency and percent, and statistical tests such as X(2) at 0.05 significant level using the Statistical Package for the Social Sciences version 16.5. The prevalence of dental anomaly was 213 (18.17%), which was higher in females (9.90) than male, (8.28), however, this difference was not statistically significant (P > 0.05). The prevalence of dilacerated teeth was 62 (5.29%), taurodontism 63 (5.38%), supernumerary teeth 6 (0.51%), congenitally missing teeth 13 (1.11%), fusion 1 (0.09%), gemination 1 (0.09%), impaction 40 (3.41%), transposition 2 (0.18%), dens invagination 16 (1.37) and peg lateral was 9 (0.77%). The prevalence of morphological anomaly was 152 (71.36%), malposition 42 (19.72%) and numerous anomaly was 19 (8.92%). Dental anomalies are relatively common; although their occurrence is not symptomatic, they can lead to several clinical problems in patients. Detailed clinical and radiographic assessment and counseling during patient visits is a critical factor in assessing the patient's degree of difficulty to help the dentist for

[Ebstein's "like" anomaly ventricular double inlet. A rare association].

PubMed

Muñoz Castellanos, Luis; Kuri Nivon, Magdalena

The association of univentricular heart with double inlet and Ebstein's "like" anomaly of the common atrioventricular valve is extremely rare. Two hearts with this association are described with the segmental sequential system which determine the atrial situs, the types of atrioventricular and ventriculoarterial connections and associated anomalies. Both hearts had atrial situs solitus, and a univentricular heart with common atrioventricular valve, a foramen primum and double outlet ventricle with normal crossed great arteries. In the fiefirst heart the four leaflets of the atrioventricular valve were displaced and fused to the ventricular walls, from the atrioventricular union roward the apex with atrialization of the inlet and trabecular zones and there was stenosis in the infundibulum and in the pulmonary valve. In the second heart the proximal segment of the atrioventricular valve was displaced and fused to the ventricular whith shot atrialization and the distal segment was dysplastic with fibromixoid nodules and tendinous cords short and thick; the pulmonary artery was dilate. Both hearts are grouped in the atrioventricular univentricular connection in the segmental sequential system. The application of this method in the diagnosis of congenital heart disease demonstrates its usefulness. The associations of complex anomalies in these hearts show us the infinite spectrum of presentation of congenital heart disease which expands our knowledge of pediatric cardiology. Copyright © 2016 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

Congenitally absent lumbar pedicle: a reappraisal

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.

Parental satisfaction with follow-up services for children with major anatomical congenital anomalies.

PubMed

van Dijk, M; Poley, M J; Gischler, S J; Mazer, P; Ijsselstijn, H; Tibboel, D; Latour, J M

2010-01-01

Since 1999 a multidisciplinary follow-up programme for parents and children with major anatomical congenital anomalies is in place in our hospital, run by a dedicated team. The aim of the present study was to evaluate the services of this team from a parental perspective. Parents completed a questionnaire including open and closed questions about satisfaction with the various professional disciplines involved in the follow-up, statements on usefulness of the follow-up services and suggestions for improvement. Four hundred and sixty-nine surveys were sent out, of which 71% were returned. Non-responding parents included significantly more parents of non-Dutch origin (P= 0.038) and parents who never responded to invitations for follow-up examinations (P < 0.001). Parental satisfaction differed for the various disciplines. Eighty per cent of the parents were (very) satisfied with the social worker, compared with 92% with nurses. More than half of the parents agreed that the follow-up services give peace of mind. Almost a quarter of parents, however, considered the follow-up services as redundant. The children of these parents had significantly shorter intensive care unit stay (P= 0.02), were older at the time of the questionnaire (P= 0.04), of higher socio-economic status (P= 0.001) and less likely to be of non-Dutch origin (P= 0.008). Sixty-one per cent of the parents had contacted the 24-h helpline. Ninety per cent of the parents were satisfied with the intensive care unit, almost 80% with the general ward. Overall, parents were satisfied with the services of the follow-up team. Some parents, however, saw room for improvement related to better communication, recognizability of the team and better planning and organization.

Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly.

PubMed

Wullich, B; Henn, W; Groterath, E; Ermis, A; Fuchs, S; Zankl, M

1991-11-01

We report on a liveborn male infant with mosaic tetraploidy who presented with multiple congenital anomalies including features of the DiGeorge anomaly (type I truncus arteriosus with other cardiovascular malformations, thymic hypoplasia, hypocalcemia). No structural chromosome aberrations, namely of chromosome 22, were detected. These findings contribute to the variability of symptoms of the polyploid phenotype. Additionally, the cytogenetic studies in our case emphasize the necessity of investigating fibroblasts in order to evaluate the relevant proportion of aberrant cells in mosaicism.

Distribution of branchial anomalies in a paediatric Asian population.

PubMed

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

2015-04-01

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

Distribution of branchial anomalies in a paediatric Asian population

PubMed Central

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

2015-01-01

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

Coexistence of congenital giant melanocytic nevus of the scalp with cranial defect, poliosis, and hair loss.

PubMed

Lee, Woo J; Lee, Sang M; Won, Chong H; Chang, Sung E; Lee, Mi W; Choi, Jee H; Moon, Kee C

2013-01-01

Congenital melanocytic nevi (CMN) are pigmented lesions presenting on the skin in approximately 1% of all newborns at or shortly after birth. CMN have been described as being associated with several anomalies, including cranial bone hypertrophy, scoliosis, and spina bifida. This is the first report to describe a giant congenital melanocytic nevus on the scalp associated with cranial involvement, poliosis, and alopecia. © 2013 Wiley Periodicals, Inc.

A female patient with congenital pouch colon (CPC): a case report.

PubMed

Yilmaz, O; Genc, A; Ayhan, S; Ozcan, T; Aygoren, R; Taneli, C

2011-01-01

Congenital short colon, more commonly known as pouch colon, is a rare anomaly that can be encountered with anorectal malformations (ARM). The colon is shorter than normal and the distal end is dilated like a pouch. We report the case of a newborn with a Type 2 pouch colon. A female newborn was brought to our clinic with a diagnosis of cloaca anomaly. Her physical examination revealed a single canal introitus and flat perineum. In the abdominal x-ray taken in the upright position, a prominent air sac was noticed at the left side. A laparotomy was performed and exploration demonstrated that the colon was like a pouch. The pouch terminated in the upper part of the vagina with a wide canal. A genitogram displayed the presence of double uteri and double vaginas. One month after the operation we performed a cystoscopy, which showed the urethral meatus to be more proximal than normal (female type hypospadias). When the patient was 8 months old she was re-operated and anterior-abdomino-posterior sagittal anorectoplasty plus tube coloplasty were performed. She is now 4 years old and has a stool discharge of 2-3 times a day. Her physical and psychosocial development is in concordance with her age. Congenital pouch colon is a very rare anomaly, which has to be considered especially during the clinical evaluation of children with cloacal malformations and high type anorectal anomalies.

Trans-sphenoidal encephalocele in association with Dandy-Walker complex and cardiovascular anomalies.

PubMed

Joy, H M; Barker, C S; Small, J H; Armitage, M

2001-01-01

We present a case of trans-sphenoidal encephalomeningocele in association with a posterior cranial fossa malformation which fulfils the criteria for the Dandy-Walker complex [1]. Congenital cardiovascular defects were also present. An abnormality of neural crest development may be responsible for the combined occurrence of these anomalies.

First branchial groove anomaly.

PubMed

Kumar, M; Hickey, S; Joseph, G

2000-06-01

First branchial groove anomalies are very rare. We report a case of a first branchial groove anomaly presented as an infected cyst in an 11-month-old child. Management of such lesions is complicated because of their close association with the facial nerve. Surgical management must include identification and protection of the facial nerve. Embryology and facial nerve disposition in relation to the anomaly are reviewed.

Genetics Home Reference: congenital diaphragmatic hernia

MedlinePlus

... Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic hernia. Am J ... 2009.08.004. Review. Citation on PubMed Scott DA. Genetics of congenital diaphragmatic hernia. Semin Pediatr Surg. ...

Treatment of intrahepatic congenital portosystemic shunts in dogs: a systematic review.

PubMed

Tivers, M S; Lipscomb, V J; Brockman, D J

2017-09-01

The aim of this study was to establish the evidence base for the treatment of intrahepatic congenital portosystemic shunts in dogs through a systematic review of the pertinent literature. Studies were filtered for evidence to answer the question "Which of the treatment options for intrahepatic CPSS in dogs offers the best short- and long-term outcome?" Studies were assigned a level of evidence based on a system published by the Oxford Centre for Evidence-Based Medicine. Thirty-two studies were included in the review. Twenty-six provided level 4 evidence and six provided level 5 evidence. There were no level 1, 2 or 3 studies. One study compared surgical treatment with medical management and one study compared suture ligation with ameroid constrictor placement. The remaining studies were case series describing the outcome for one treatment method alone. Methods and timings of assessments of short- and long-term outcomes were highly varied, making direct comparisons challenging. The evidence regarding the treatment of intrahepatic congenital portosystemic shunts in dogs is weak, with only two studies directly comparing treatments. There is a lack of evidence regarding short- and long-term outcomes on which to base clinical decisions. © 2017 British Small Animal Veterinary Association.

Congenital left ventricular outpouchings: a systematic review of 839 cases and introduction of a novel classification after two centuries.

PubMed

Malakan Rad, Elaheh; Awad, Sawsan; Hijazi, Ziyad M

2014-01-01

Congenital left ventricular outpouchings (LVOs) are reported under five overlapping and poorly defined terms including left ventricular accessory chamber, left ventricular aneurysm (LVA), left ventricular diverticulum (LVD), double-chambered LV, and accessory left ventricle. Diagnostic criteria are frequently mixed and not mutually exclusive. They convey no information regarding treatment strategy and prognosis. The aim of this systematic review is to provide a clear and inclusive classification, with therapeutic and prognostic implications, for congenital LVOs. We performed three separate sets of search on three subjects including "congenital left ventricular outpouchings," "important and simply measurable markers of left ventricular function," and "relationship of mechanics of intraventricular blood flow and optimal vortex formation in left ventricle and elliptical geometry of LV." We enrolled case series, review articles, and case reports with literature review. All types of acquired LVO's were excluded. We studied the abstracts of all searched articles. We focused on diagnostic criteria and patients' outcome. To examine the validity and reliability of the novel classification, fifteen previous studies were revisited using the novel classification. A total of 20 papers from 11 countries fulfilled our inclusion criteria. The age of patients ranged from prenatal age to geriatric age range. Diagnostic criteria were clearly stated only for two of the above five terms (i.e., congenital LVA and congenital LVD). Cases with mixed diagnostic criteria were frequent.Elliptical geometry of left ventricle was found to have significant impact on effective blood flow mechanics in LV. A simple inclusive classification for congenital LVOs, with therapeutic and prognostic implications, was introduced. The cornerstone of this classification is elliptical LV geometry. Large-type IIc LVO have dismal prognosis, if left untreated. LVO type I and small LVO type IIa have the best

Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.

PubMed

Larhant, Matthieu; Sourice, Sophie; Grimaud, Fanny; Cordoba, Luis; Leveau, Sophie; Huet, Pascal; Corre, Pierre; Khonsari, Roman Hossein

2014-06-01

Radiculomegaly affecting incisors, canines or premolars is a rare radiological finding (Maden et al., 2010) but is pathognomomic of a rare x-linked dominant syndrome called oculo-facio-cardio-dental syndrome (OFCDS). As this syndrome includes cardiac malformations and can lead to blindness due to congenital glaucoma, oral and maxillofacial surgeons should be aware of the somatic anomalies potentially associated with radiculomegaly. We report a typical case of OFCDS and provide the first description of the microscopic dental anomalies associated with this syndrome. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

PubMed Central

2013-01-01

Background Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964–1977 to 30.4/10,000 births in Scotland from 1964–1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands. Methods In a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981–2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992–2010 using χ2 tests, as well as CLD association with anomalies affecting other organs. Results The birth prevalence of CLD was 21.1/10,000 births for 1981–2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P < 0.01) in 1992–2010. Of 1,048 children with CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016). Conclusions The birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992–2010. PMID:24237863

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.

PubMed

Vasluian, Ecaterina; van der Sluis, Corry K; van Essen, Anthonie J; Bergman, Jorieke E H; Dijkstra, Pieter U; Reinders-Messelink, Heleen A; de Walle, Hermien E K

2013-11-16

Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964-1977 to 30.4/10,000 births in Scotland from 1964-1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands. In a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981-2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992-2010 using χ² tests, as well as CLD association with anomalies affecting other organs. The birth prevalence of CLD was 21.1/10,000 births for 1981-2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P < 0.01) in 1992-2010. Of 1,048 children with CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016). The birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992-2010.

Leber congenital amaurosis associated with Chiari I malformation: Two cases and a review of the literature

PubMed Central

Petraglia, Anthony L.; Chengazi, Harris U.; Chung, Mina M.; Silberstein, Howard J.

2012-01-01

Objective: Leber congenital amaurosis (LCA) is a rare, clinically and genetically heterogeneous disorder characterized by severe loss of vision in the first year of life, affecting approximately 3000 people in the United States. Some LCA patients manifest developmental abnormalities of the central nervous system (CNS) and neuroradiological studies have revealed a variety of cerebral anomalies in association with LCA; however, Chiari I malformations (CMI) have never been described. Case Description: We report two sisters who were referred to the pediatric neurosurgery clinic for evaluation of CMI. The elder sister presented with convergence nystagmus from 3 months of age and magnetic resonance imaging (MRI) demonstrated evidence of significant CMI. Her younger sister began developing nystagmus at 4 months of age. Both had symptomatic progression and underwent suboccipital decompression. Both were subsequently diagnosed with LCA. Case specifics and imaging findings are presented. Conclusions: CMI have been found in association with several genetic syndromes, but not with LCA. These patients represent the first reported cases of CMI with LCA and suggest an additional potential CNS anomaly. The unique occurrence in siblings and the association with another inherited disorder are suggestive of a genetic basis for CMI. PMID:22347674

Basic imaging in congenital heart disease. 3rd Ed

DOE Office of Scientific and Technical Information (OSTI.GOV)

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.