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Results 401 - 450 of 1182
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Källén Karin - - 2004
Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the ...
Scher Mark S - - 2004
Fetal neurologic consultations were provided to 166 maternal-fetal pairs over a 5-year period. Consultations were initiated during the second trimester in 46% (74/166) of pairs. Fifty-percent (83/166) of these consultations involved brain malformations, of which 55% (46/83) were also associated with other organ abnormalities. Brain malformations principally consisted of encephalocele, ...
Boltshauser Eugen - - 2004
Defining and classifying congenital disorders of the cerebellum can be difficult and confusing. One reason is that some abnormalities called "malformations" are not truly (primary) developmental malformations. This applies to Chiari I "malformations" as well as to Chiari II "malformations." The latter results mainly from a prenatal cerebrospinal fluid (CSF) ...
Synnes Anne R - - 2004
The objective of this study was to describe the congenital anomalies in 17 Canadian neonatal intensive care units (NICUs) and their impact on mortality, morbidity, and resource utilization. This study was performed using a database analysis of 19,507 consecutive admissions. Results show that 13.7% of admissions had one or more ...
Brent Robert L - - 2004
There have been amazing advances in embryology, teratology, reproductive biology, genetics, and epidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive diagnosis and cause in ...
Satter E K - - 2004
We present a unique case of an infant with acute monocytic leukaemia who presented at birth with multiple rubbery, erythematous to violaceous subcutaneous nodules secondary to leukaemia cutis. As these infiltrates regressed with chemotherapy, numerous white to yellow linear confluent papules appeared in a scratch-like pattern. These lesions were widely ...
Archibong, AE; Department of ...
Between 1992 and 20012, 54 infants were attended to at the University of Calabar Teaching Hospital, the only tertiary referral center for paediatric surgery in Southeastern Nigeria. There was a male: female ratio of 1:1.5 and majority of the infants (75%) were born to teenage mothers of low socio-economic status. ...
Shaw Gary M - - 2004
Few population-based epidemiologic data are available on malformation phenotypes that co-occur with orofacial clefts. We explored the occurrence of structural congenital malformations in offspring with cleft palate (CP) and in offspring with cleft lip with or without CP (CLP), using data from a population-based active surveillance system. Ascertainment was performed ...
Gassner I - - 2004
Congenital anomalies of the female genital tract result from müllerian duct anomalies and/or abnormalities of the urogenital sinus or cloaca. Due to the close developmental relationship between the genital and the urinary tracts, association of anomalies in both systems are common. This article reviews the appearance of developmental anomalies of ...
Hynes P J - - 2004
The origin, extent and topographical relationships of the urethral plate and its role in the pathogenesis of developmental anomalies (bladder extrophy, epispadias and hypospadias) remain incompletely resolved. The commonly held view that the urethral plate (the forerunner of the urethra) arises through distal proliferation of the cells of the anterior ...
Ahmed S F - - 2004
BACKGROUND: Considerable debate exists on the epidemiology of genital anomalies. METHODS: All genital anomalies, excluding undescended testes, were identified from neonatal returns, stillbirth and infant death survey records, and returns relating to hospital admissions and linked to form infant profiles on a cohort of singleton births between 1988 and 1997 ...
Fairbanks Timothy J - - 2004
BACKGROUND/PURPOSE: Anorectal malformations occur in 1 per 4,000 live births and represent a surgical challenge. Although critically important, the basic mechanisms of normal anorectal union are incompletely understood. Fgf10 signaling is known to serve a key role in mesenchymal/epithelial interactions in many organ systems including the gastrointestinal tract (GIT). The ...
Wide K - - 2004
AIM: Antiepileptic drugs (AEDs) are known teratogens. Some specificity between different AEDs has been noted in the literature. The aim was to compare the teratogenic effect of valproic acid (VPA) and carbamazepine (CBZ) in monotherapy. METHODS: Infants exposed to AEDs (n = 1398) in early pregnancy were identified from the ...
Bajwa R P S - - 2004
AIMS: To determine the incidence and outcome of congenital leukaemia. METHODS: Retrospective population based study of putative leukaemia arising during the first 3 months of life over an 18 year period within the Northern Health Region of England. RESULTS: Nine infants with putative leukaemia were identified. Five had acute leukaemia ...
Salakhov Edward - - 2004
BACKGROUND: Congenital syphilis (CS) reports in Russia increased 26-fold from 1991 to 1999. Case reports included only infants who were clinical cases, had persistent serologic changes, or confirmed syphilitic stillbirth. Although not reported, policies stipulate that infants of inadequately treated or untreated mothers receive preventive penicillin treatment. GOAL: We examined ...
Martínez-Frías María Luisa - - 2004
BACKGROUND: The frequency of hypospadias is not uniform worldwide. Several countries have reported an increase in its frequency at birth. Although a better ascertainment of the minor forms has been considered as an explanation, the potential effect of environmental endocrine disrupters has also been proposed. We studied the secular trend ...
Filippi Luca - - 2004
Three preterm newborns affected by congenital syphilis, born to mothers not adequately treated during pregnancy, are described. The clinical picture is characterized by a severe cholestatic hepatopathy and, in the two surviving patients, by an unusually wide ischemic-hemorrhagic lesion of the cerebral parenchyma. This lesion is probably due to a ...
Rittler Monica - - 2004
BACKGROUND: Sex ratio (SR) deviations have been reported for many congenital anomalies, but so far no satisfactory explanation for these deviations has been found. The aim of this study was to detect sex-related differences in the association between risk factors and congenital anomalies, and to relate these differences with possibly ...
Lago Eleonor G - - 2004
BACKGROUND: Behavioral and socioeconomic factors create considerable obstacles to the elimination of congenital syphilis. A clear understanding of maternal risk factors is important to define interventions in every community. GOAL: The goal of this study was to investigate maternal risk factors for congenital syphilis. STUDY DESIGN: We conducted a case-control ...
Sarnat Harvey B - - 2004
Vimentin, glial fibrillary acidic protein (GFAP) and S-100beta protein were studied by immunocytochemistry in the ependyma of patients with Chiari II malformations, congenital aqueductal stenosis, and hydromyelia. Paraffin sections of brains and spinal cords of 16 patients were examined, 14 with Chiari II malformations, most with aqueductal stenosis and/or hydromyelia ...
Saxena A K - - 2004
Rectal atresia is an extremely rare anorectal malformation. A unique case of rectal atresia presenting as an imperforate membrane associated with congenital cardiac malformations and unilateral choanal atresia in a newborn is reported. Ultrasound examination in the newborn infant located the presence of the rectal membrane which was surgically treated ...
Padmanabhan V T - - 2004
In a genetic epidemiological and fertility survey among 70,000 inhabitants in a high-background radiation region (HBRR) and normal radiation region (NRR) in Kerala, India, 985 persons were found to have heritable anomalies. Suggested etiologies for the anomalies were chromosomal and Mendelian, 15 percent; multifactorial, 60 percent; and congenital, 25 percent. ...
Tabor Ann - - 2003
OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were examined by midtrimester ultrasound scan during ...
Glenn Orit A - - 2003
PURPOSE: To test the hypothesis that there is greater asymmetry in diffusion properties between right and left pyramidal tracts in patients with congenital hemiparesis than in patients with normal motor function. MATERIALS AND METHODS: Four congenitally hemiparetic patients and four age-matched controls underwent magnetic resonance diffusion tensor imaging (DTI)-based three-dimensional ...
Pumberger Wolfgang - - 2003
OBJECTIVE: The objective of the study is to present longitudinal observations in antenatally detected congenital lung malformations (CLM), particularly pulmonary sequestration (PS) and cystic adenomatoid malformation (CAM). METHODS: Fetuses found to have a CLM on prenatal ultrasound (US) were included in this study and followed up until delivery. In all ...
Yeats Melania - - 2003
An infant was born at term after having received a diagnosis of omphalacele on prenatal ultrasound scan. She did not have an omphalacele but rather had a patent urachus with bladder eversion onto the abdominal wall. The remainder of the genitourinary tract was normal, and it was possible to pass ...
Dambska M - - 2003
Eleven cases of newborns with acrania and macroscopically diagnosed anencephaly were neuropathologically examined. They presented changes in which 1 group corresponded to the diagnosis of aprosencephaly. In the second group, the development of prosencephalic structures was more advanced. The pathomechanism of the observed anomalies was analyzed in relation to data ...
Dummer Trevor J B - - 2003
Although several researchers have addressed the risk of congenital anomaly in relation to proximity to landfill sites, few have considered the risks of stillbirth or neonatal death for mothers who reside near landfills. The authors studied all 4,325 stillbirths, 3,430 neonatal deaths, and 1,569 lethal congenital anomalies that occurred among ...
Sharman-Koendjbiharie M - - 2003
BACKGROUND/PURPOSE: Gastrointestinal hormones modulate gut function in response to enteral nutrition. Infants with a congenital intestinal anomaly with loss of bowel length either pre-or postnatal, who are on total parenteral nutrition for prolonged periods after surgery, are especially prone to a disturbed secretion of gut hormones. The aim of this ...
Kiatchoosakun Pakaphan - - 2003
Tracheal agenesis is a rare congenital anomaly and typically has fatal consequences. Associated congenital malformations are present in 90 per cent of cases, most frequently affecting the cardiovascular or gastrointestinal systems and the genitourinary tract. Affected infants lack prenatal symptoms and usually present with severe respiratory distress, absence of audible ...
Aliyu M H - - 2003
OBJECTIVE: To examine the occurence and outcomes of African babies born with features of Eagle-Barret syndrome at a tertiary health centre. DESIGN: Case series. SETTING: University Teaching Hospital, Yaounde, Cameroon. SUBJECTS: Patients were identified through a retrospective review of obstetric records of mothers admitted at the centre within the period ...
Prasad Asuri N - - 2003
The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists. The condition refers to an infant with generalized hypotonia presenting at birth or in early life. The diagnostic work up in many instances is often complex, and requires multidisciplinary assessment. Advances in genetics and neurosciences have lead to ...
Premasiri Mapalagama K - - 2003
AIMS: This study attempts to determine the type and relative frequency of muscle diseases contributing to floppy and hypotonic infants in Singapore. METHODS: Eighty consecutive muscle biopsies in the Department of Pathology, National University of Singapore, in the period 1978-2000, in which a clinical diagnosis of floppy or hypotonic infant ...
Sumanović-Glamuzina Darinka - - 2003
OBJECTIVES: To determine the prevalence of major congenital malformations in West Herzegovina, a part of Bosnia and Herzegovina, immediately and five years after 1991-1995 military activities, which allegedly included the use of weapons with depleted uranium. METHODS: The study included all live-born and stillborn neonates and excluded all aborted fetuses ...
Alpert Samuel G - - 2003
PURPOSE: To report the first documented case of intrauterine transmission of West Nile virus (WNV) with resulting congenital chorioretinal scarring and central nervous system malformation in a newborn. DESIGN: Case report. METHODS: Ophthalmic findings and laboratory data in an otherwise presumed healthy 2-day-old female are presented. The infant's mother developed ...
Zlotogora Joël - - 2003
The aim of this research was to determine the relative prevalence at birth of major malformations among the different religious communities in Israel as a way to better understand their causes. We collected data on malformations present among liveborn infants in a 10-year period from the national registry of birth ...
Volpe Paolo - - 2003
OBJECTIVES: One hundred and forty-one consecutive cases of malformations of the outflow tracts or interrupted aortic arch (IAA), detected by fetal echocardiography, underwent detailed anatomy scan, karyotyping and fluorescence in situ hybridization analysis (FISH) to detect the prevalence of 22q11 microdeletion and to evaluate neonatal clinical findings and outcome according ...
Salihu Hamisu M - - 2003
BACKGROUND: Variations in the temporal distribution and risk factors for omphalocele and gastroschisis have been suggested although results have not been conclusive. This study examines the trend and risk factors for both conditions among live births in New York State. METHODS: Analysis of surveillance data from the New York Congenital ...
Ralte A M - - 2003
We report a rare case of an infant with congenital muscular dystrophy who presented at birth with marked generalized hypotonia and normal mental development. Creatinine phosphokinase (CPK) level was markedly raised; however no white matter abnormalities were detected by brain imaging techniques. Immunohistochemical staining for merosin (laminin alpha 2) was ...
Bergmann Carsten - - 2003
We describe a male infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. His phenotype displays an overlap between VACTERL and hemifacial microsomia (oculo-auriculo-vertebral spectrum/OAV). In addition, striking asymmetry of the malformations further supports the classification as part of the "axial mesodermal dysplasia ...
Koster Erin L - - 2003
OBJECTIVE: To estimate whether women delivering infants with mild malformations are at increased risk to have a subsequent infant with a mild malformation. METHODS: Both severe and mild malformations detected at birth were cataloged prospectively for 33,701 women with two consecutive singleton births of infants weighing 500 g or more ...
McGlone L - - 2003
Congenital absence of the nose or arhinia is a rare defect of embryogenesis, often associated with other anomalies. It is potentially a life-threatening condition and requires the presence of a highly skilled neonatal resuscitation team at the time of delivery. The associated anomalies often have a significant impact on the ...
Pipitone Salvatore - - 2003
Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A ...
Dummer Trevor J B - - 2003
The objective of this study was to investigate the risk of stillbirth, neonatal death and lethal congenital anomaly in relation to proximity to hazardous industrial facilities at the time of birth in Cumbria, 1950-93. A retrospective cohort study was carried out using all 4325 stillbirths, 3430 neonatal deaths and 1569 ...
Captier G - - 2003
The aim of this study was to perform a morphometric analysis of the skull base to understand the mechanism of asymmetry between malformational and deformational plagiocephaly. Since 1988, we have carried out 102 CT scans with three-dimensional reconstruction of the endocranial side of the skull base. There were 20 cases ...
Clegg Herbert W - - 2003
Congenital cutaneous candidiasis (CCC) is usually a benign condition characterized by various skin manifestations and is rarely associated with nail changes. We report a premature infant with CCC who developed dystrophy of all 20 nails at about 1 month of age. Nail dystrophy due to Candida albicans in the young ...
Vaux Keith K - - 2003
BACKGROUND: Cyclophosphamide (CP) is an alkylating agent primarily used for the treatment of autoimmune disease and cancer. The purpose of this article is two-fold: first, to indicate that CP is a recognized human teratogen based on the features seen in a child prenatally exposed to this agent, as well as ...
Zlotogora Joël - - 2003
BACKGROUND: Infant mortality in Israel is twofold higher among non-Jews than Jews. OBJECTIVES: To determine the impact of congenital malformations and Mendelian diseases on infant mortality. METHODS: We compared the causes of infant mortality in a 4 year period among Jewish and non-Jewish Israeli citizens. Classification was done by analyzing ...
Dastgiri S - - 2003
AIM: To describe the survival to age 5 years of children born with congenital anomalies. METHODS: Between 1980 and 1997, 6153 live born cases of congenital anomaly were diagnosed and registered by the population based Glasgow Register of Congenital Anomalies. They were retrospectively followed to assess their survival status from ...
Shima Y - - 2003
We report an unusual case of perforation of a congenital fibrosarcoma of the jejunum in utero and secondary meconium peritonitis. Prenatal ultrasound showed polyhydramnios and fetal ascites from 25 gestational weeks in the absence of other fetal congenital anomalies. A 2200 g baby girl was born at 34 weeks gestation, ...
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