Search Results
Results 501 - 550 of 1012
< 6 7 8 9 10 11 12 13 14 15 16 >
Botto L D - - 1997
The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported ...
Craven C M - - 1997
The term "Limb Body Wall Defect" (LBWD) refers to a variable group of congenital defects having in common abdomino- or thoraco-schisis and limb deficiency. Three general pathogenic mechanisms have been proposed for this disorder: amnion rupture, vascular disruption, and embryonic malformation. We hypothesize that there are subsets of "Limb Body ...
Kumar D - - 1997
An apparently autosomal recessive syndrome of congenital renal tubular dysplasia and skull ossification defects is described in five infants from two separate, consanguineous, Pakistani Muslim kindreds. The clinical, pathological, and radiological features are similar to the phenotype associated with fetal exposure to angiotensin converting enzyme (ACE) inhibitors: intrauterine growth retardation, ...
Cowan D N - - 1997
BACKGROUND: There has been suspicion that service in the Persian Gulf War affected the health of veterans adversely, and there have been claims of an increased rate of birth defects among the children of those veterans. METHODS: We evaluated the routinely collected data on all live births at 135 military ...
Chun K - - 1997
Scrotoschisis, a congenital defect of the scrotal wall associated with extracorporeal testicular ectopy, has been previously reported only twice. Meconium periorchitis is another rare scrotal anomaly indicative of an antenatally healed gastrointestinal perforation. The authors present a third case of scrotoschisis and the first associated with meconium periorchitis. Several hours ...
White A - - 1997
Potential risk of adverse birth outcomes associated with the use of antiretrovirals in human immunodeficiency virus (HIV)-infected women during pregnancy must be assessed. Data through June 1995 are reported from the worldwide Antiretroviral Pregnancy Registry on the incidence of structural birth defects following prenatal exposure to zidovudine. Healthcare professionals register ...
Johnson K C - - 1997
The Canadian Congenital Anomalies Surveillance System monitors birth defects reported for stillborns, newborns and infants during the first year of life. Data are available through the 1980s and early 1990s for Ontario, Manitoba and Alberta, and since 1984 for an additional four provinces. Fifty-seven routine monitoring categories and 15 summary ...
Guillery E N - - 1997
In this review, the recent literature pertaining to the nephrology of the fetus and neonate is reviewed. Some papers of interest are described, and an overview of active areas of research is given. One of these areas is early development, studies of which are giving new insight into patterns of ...
Loffredo C A - - 1997
Stored blood spots from state newborn screening programs represent a potential source of DNA for molecular genetics research on birth defects. The stored blood spots of cases and controls from an epidemiologic database on congenital heart defects were sought in the present study, which aimed to establish the feasibility of ...
Tekinalp G - - 1997
A full-term infant girl who had bilateral, symmetrical, sharply defined, triangular-shaped ulcers on both sides of the umbilicus is described. A punch biopsy specimen showed histologic findings of aplasia cutis. Echocardiographic examination revealed primum-type atrial septal defect. To our knowledge, this association is the first of its kind to be ...
Savitz D A - - 1997
Members of the workgroup on birth defects and developmental disorders discussed methods to assess structural anomalies, genetic changes and mutations, fetal and infant mortality, functional deficits, and impaired fetal and neonatal growth. Tier 1 assessments for all five adverse reproductive outcomes consist of questionnaires and reviews of medical records rather ...
Chen C P - - 1997
Cebocephaly and sirenomelia are uncommon birth defects. Their association is extremely rare; however, the presence of spina bifida with both conditions is not unexpected. We report on a female still-birth with cebocephaly, alobar holoprosencephaly, cleft palate, lumbar spina bifida, sirenomelia, a single umbilical artery, and a 46,XX karyotype, but without ...
Yang Q - - 1997
There is accumulating evidence that periconceptional multivitamin use may prevent the occurrence of some birth defects other than neural tube defects. Using data from the population-based Atlanta Birth Defects Case-Control Study, we investigated the possible association between periconceptional multivitamin use and the occurrence of limb deficiency. We examined the periconceptional ...
Stöckler S - - 1997
In an infant with progressive, severe extrapyramidal movement disorder and extremely. low urinary creatinine excretion, in vivo proton magnetic resonance spectroscopy of the brain showed a depletion of creatine and an accumulation of guanidinoacetate, the immediate precursor of creatine. The suggested defect in creatine biosynthesis at the level of guanidinoacetate ...
Martínez-Frías M L - - 1997
Opitz [Birth Defects, 1993, 1:3-37] postulated that sporadic defects of blastogenesis generally are highly lethal and have a low recurrence risk. We have observed that mothers of infants with blastogenetic defects have more previous abortions than mothers of children with nonblastogenetic defects or than mothers of control infants. Thus the ...
Bound J P - - 1997
OBJECTIVE: To analyse the prevalence of neural tube defects in small geographical areas and seek to explain any spatial variations with reference to environmental lead and deprivation. SETTING: The Fylde of Lancashire in the north west of England. DESIGN: Cases were ascertained as part of a prospective survey of major ...
Abuelo D N - - 1997
We describe an infant with homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects, whose limbs demonstrate evidence of loss of tissue and abnormal morphogenesis. We propose these defects were due to either severe fetal anemia or to vascular occlusion by abnormal erythrocytes, resulting in hypoxia of the developing distal ...
Yamagishi T - - 1997
We describe our technique for performing direct thoracoscopic closure of a congenital partial pericardial defect, which was successfully employed in a 15-year-old boy. This is the first such report of a procedure that is noninvasive and may therefore become the treatment of choice for patients with a small congenital pericardial ...
Mueller B A - - 1997
A population-based study was conducted using maternally-linked birth certificate records from Washington State for 1980-93 to evaluate the risk of birth defect occurrence among infants with previously affected siblings, relative to infants whose siblings did not have birth defects. The risks of recurrence of similar and dissimilar defects were estimated, ...
Pradat P - - 1997
Using the Swedish Cardiology Registry and the Registry of Congenital Malformations, and after excluding infants with a known chromosomal anomaly, data on 397 infants (15%) born during the period 1981-1990 with a major cardiac defect and at least one noncardiac malformation were analyzed. No clear-cut association appeared between specific heart ...
Yang Q - - 1997
Contemporary information on the trends and patterns of mortality associated with birth defects and genetic diseases is lacking in the United States. To study these trends and patterns, we used the Multiple-Cause Mortality Files of the National Center for Health Statistics. From 1979 through 1992, 320,208 deaths in the United ...
Martínez-Frías M L - - 1996
Van Allen et al. [Am J Med Genet 47:723-743, 1993] proposed that there is multi-site initiation of neural tube closure in humans, and that neural tube defects (NTD) represent the failure of one or more of 5 closure sites. We have studied from an epidemiologic perspective 774 liveborn infants with ...
Montaña E - - 1996
OBJECTIVES: In this study we used a population-based approach to assess the impact of fetal echocardiography on a well defined birth population with nearly complete ascertainment of cardiac defects. BACKGROUND: Although fetal echocardiography is being used more frequently in the prenatal diagnosis of congenital cardiac malformations, its impact on the ...
Du Z D - - 1996
Isolated muscular ventricular septal defect was identified in 9 of 159 consecutive preterm neonates by color Doppler echocardiography, a prevalence of 56.6/1,000 live births. The neonates with ventricular septal defects appear clinically healthy, and in 87.5% of them the defect spontaneously closed within 6 to 11 months. The prevalence and ...
Treem W R - - 1996
BACKGROUND: The similarity of the hepatic pathology in acute fatty liver of pregnancy (AFLP) to that seen in children with inherited disorders of intramitochondrial fatty acid oxidation (FAO) suggests that there may be a genetic basis for some cases of AFLP. OBJECTIVE: The purpose of this study was to examine ...
Botto L D - - 1996
OBJECTIVE: The preventive efficacy of the periconceptional use of multivitamins is well established for neural tube defects, much less so for other birth defects. We conducted a population-based, case-control study to assess the effects of multivitamin use on the risk for conotruncal defects, a group of severe heart defects that ...
Jenkins P C - - 1996
The rapid growth of an inflammatory pseudotumor in the right atrium of an infant with pulmonary valve stenosis and atrial septal defect is documented. Systemic manifestations, including fever, weight loss, leukocytosis, and hypergammaglobulinemia, suggested infection; the diagnosis was made after surgical resection. Sixteen months after surgery the infant is asymptomatic, ...
Källén B - - 1996
We studied major malformations in 5,581 infants with Down syndrome (DS) from three registers of congenital malformations. THe prevalence at birth of 23 different malformations was compared with the program-specific rates for each malformation in non-DS infants. An about 300 times risk increase was seen for annular pancreas, cataracts and ...
Goldsmith J P - - 1996
Avoidance of futile therapies that only prolong suffering and the high emotional and economic cost to family and society justifies an attempted differentiation of infants whose defects are so extensive or whose prognoses are so poor that CPR should be withheld. This article discusses the ethical bases for decision making ...
Velie E M - - 1996
The authors examined the impact of prenatal diagnosis and elective termination of neural tube defect (NTD)-affected pregnancies on NTD prevalence and risk estimates. Prevalence data were actively ascertained and were derived from a population-based 1989-1991 cohort of California births. Included were 664 singleton infants/fetuses with an NTD. The birth prevalence ...
Coddington D A - - 1996
While congenital anomalies have been identified as the second leading cause of infant mortality among American Indians and Alaska Natives, limited information exists concerning the morbidity of such malformations. This study was undertaken to address this concern. Using data from the national hospital discharge database of the Indian Health Service, ...
Lin S - - 1996
This study investigates how the timing of the development of limb reduction defects (LRDs) is associated with selected demographic, medical variables and defect characteristics. The LRD cases (n = 281) were ascertained from the Congenital Malformations Registry of New York State among 1983-1987 births. Cases were classified according to five ...
Kowal-Vern A - - 1996
Anticardiolipin antibodies (ACLA) are present in 10% of women with recurrent pregnancy loss. Other associations with ACLA are arterial and venous thrombosis, cerebral infarction, pulmonary hypertension, preterm delivery, and fetal growth retardation. A previous prospective study of infants of mothers with positive ACLA identified an increased incidence of congenital heart ...
Chen Y - - 1996
Pentalogy of Cantrell (POC), is a rare congenital defect associated with five ventral midline abnormalities and high mortality. We report a 2,788 g female infant with partial repair of POC in the neonatal stage. This consisted of repairing the omphalocele, plicating the eventrated diaphragm and placing the heart into the ...
Rittler M - - 1996
This study departed from a preconceived definition of VACTERL, including more than one of these six anomalies in the same infant: V (vertebral anomalies), A (anal atresia), C (congenital heart disease), TE (tracheoesophageal fistula or esophageal atresia), R (reno-urinary anomalies), and L (radial limb defect). Under this definition, 524 infants ...
Haneda K - - 1996
Intellectual function was evaluated by Gesell's developmental quotient (DQ) and Binet's intelligence quotient (IQ) in 161 infants and children (61 ventricular septal defects, 49 tetralogies of Fallot, 15 transpositions of the great arteries, seven atrial septal defects, five complete atrioventricular canals, five double outlet right ventricles and 19 shunt cases; ...
O'Malley C D - - 1996
In this population-based case-control study, we explored the association of selected parental and infant characteristics from the birth certificates of children with conotruncal heart defects. We compared 252 cases to a random sample of 5,000 nonmalformed infants from a cohort of 341,839 California live births for 1987-1988. The prevalence of ...
Watkins M L - - 1996
To assess the sensitivity and positive predictive value of birth defects reported on the 1989 revision of the US Standard Birth Certificate, a population of 76,862 Atlanta-area births during 1989 and 1990 was used as the basis for comparing 771 birth certificates that reported birth defects with 2428 live-born infant ...
Huang J L - - 1996
Blistering of light-exposed skin, pink-stained fluorescing diapers, and fluorescing peripheral erythrocytes led to diagnosis of congenital porphyria in an infant born to consanguineous parents. Although massive coproporphyrinuria and coproporphyrinemia initially suggested a coproporphyrinogen oxidase deficiency disorder, excess porphyrins were chiefly of the isomer I series, implicating a uroporphyrinogen III synthase ...
Lary J M - - 1996
Spina bifida is a birth defect of the spinal column that is a substantial contributor to serious developmental disabilities in the United States. The risk for spina bifida and other neural tube defects (NTDs) can be reduced if women consume 0.4 mg of folic acid before and during the first ...
Fisher R - - 1996
The authors review data from the Congenital Malformation Registry in South East Thames regarding fetal abdominal wall defects. Over 24 months, 80 cases were observed (40 gastroschisis, 40 exomphalos). Live-born infants with gastroschisis had few associated anomalies and an excellent prognosis (83% survival rate). Exomphalos is associated with an increased ...
Roberts H E - - 1996
We report on a live-born infant with mosaicism of tetraploidy and trisomy 8 who had craniofacial abnormalities, cardiac and genitourinary defects, agenesis of the corpus callosum, and anomalies of limbs. The infant died at age 14 weeks. Molecular studies were done on peripheral blood lymphocytes and cultured amniocytes to determine ...
Senocak F - - 1996
Four-hundred-and-fifteen neonates were evaluated by echocardiographic means in order to detect interatrial septal openings and were followed for a maximum time of 18 months. In 68.67% of them, interatrial septal openings were present at the first week of life. The defects were larger than 3 mm in 50.18% of these ...
Prieto L - - 1996
Most of the methods proposed to analyze patterns of congenital anomaly clusters have been criticized because large observed/expected (O/E) ratios are obtained for many defect combinations, suggesting that the association of congenital defects is a generalized and nonspecific tendency. To avoid this problem, two methods have been proposed: (1) the ...
Johnson Z - - 1996
BACKGROUND: We conducted a descriptive epidemiological study of Down syndrome (DS) in the four Irish counties (Dublin, Kildare, Wicklow and Galway) covered by EUROCAT registries of congenital malformations for the years 1981-1990. METHODS: EUROCAT registries, which cover defined populations, use multiple sources for case ascertainment. All DS cases born between ...
Bonilla-Felix M - - 1996
It has been generally accepted that primary distal renal tubular acidosis (DRTA) is the result of a defect in proton secretion in the distal nephron (secretory defect). We report an infant with DRTA, evidenced by spontaneous hyperchloremic metabolic acidosis with low urinary ammonium excretion rate and inability to decrease urine ...
Froster U G - - 1996
BACKGROUND: Several reports of limb defects occurring among infants exposed to chorionic villus sampling (CVS) during pregnancy resulted in concern about the safety of this procedure for prenatal diagnosis. To avoid publication bias and evaluate the true risk of limb defects in a CVS cohort, the World Health Organization initiated ...
Pursley T J - - 1996
Fluconazole has been associated with various teratisms in animals, including craniofacial ossification defects, thin, wavy ribs, and renal pelvis defects. We describe three infants born to women who were receiving fluconazole through or beyond the first trimester of pregnancy. All of the infants had congenital anomalies; no other drug was ...
Leck I - - 1996
Thomas McKeown and RG Record were colleagues in Birmingham, England, from 1947 to 1977. During their first decade together, they laid the foundations of epidemiological research on malformations with a series of case-control studies of the commoner major defects. They found evidence of numerous trends of birth prevalence with variables ...
Gutierrez J A - - 1996
Citrullinemia, a rare inborn error of metabolism, is characterized by a deficiency of argininosuccinic acid synthetase that results in large increases in plasma ammonia, citrulline, and glutamine, with normal acid-base balance. The neurologic symptoms vary from poor feeding, vomiting, and irritability to hypotonia, apnea, and death. The most common pathologic ...
< 6 7 8 9 10 11 12 13 14 15 16 >