Search Results
Results 501 - 550 of 1135
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Forrest J - - 2000
OBJECTIVE: To establish the incidence and severity of congenital and neonatal varicella in Australia. METHODOLOGY: Demographic and clinical details were obtained by postal questionnaire regarding cases notified to the Australian Paediatric Surveillance Unit by over 930 participating clinicians in 1995-97 inclusive. RESULTS: Seven cases of congenital varicella (1: 107 000 ...
Grover N - - 2000
Congenital malformations were studied over a period of five years in 10,100 consecutive births including still births at Indira Gandhi Medical College, Shimla. Out of these, 180 babies had one or the other congenital malformations and the overall incidence was 1.78%. Amongst the 311 still born babies 47 had congenital ...
Kölble N - - 2000
Prenatal ultrasound identified Dandy-Walker malformation (DWM) in ten singleton pregnancies with concurrent central nervous system (CNS) anomalies and extra-CNS anomalies in eight cases. DWM was confirmed by postnatal magnetic resonance imaging (MRI) or pathological examination in nine cases. Karyotypes were normal in the seven infants tested. Postnatal neurological and developmental ...
Rodríguez-Pinilla E - - 2000
We conducted a case-control study using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) on the relationship between prenatal exposure to valproic acid (VPA) and the presence of limb deficiencies in newborn infants. Among a total of 22,294 consecutive malformed infants (once we excluded genetic syndromes) and 21,937 ...
Coley B D - - 2000
BACKGROUND: The neuroradiologic findings in the Chiari II malformation are well known. Luckenschadel (lacunar skull) is commonly seen in patients with Chiari II on plain film and with computed tomography (CT). However, the sonographic appearance of luckenschadel has not previously been described. paragraph signObjective. To evaluate the presence or absence ...
Martínez-Frías M L - - 2000
We studied a series of 27,145 consecutive infants with congenital defects and classified them into the currently recognized pathogenetic types of errors of morphogenesis, as defined by the International Working Group [Spranger et al., 1982: J Pediatrics 1:160-165]. Of all infants with congenital defects, 97.94% had malformations, 3.92% deformations, and ...
McElvy S S - - 2000
OBJECTIVE: To evaluate the impact of a focused preconceptional and early pregnancy program specializing in the care of women with Type 1 diabetes on perinatal mortality and congenital malformations. METHODS: This clinical study included women with Type 1 diabetes in an interdisciplinary Diabetes in Pregnancy Program Project Grant (PPG) funded ...
Singh R - - 2000
A study was conducted to investigate the magnitude, nature and associated risk factors of major congenital anomalies (MCAs) at birth in Benghazi, Libyan Arab Jamahiriya in 1995. The incidence of MCAs was 7.4 per 1000 live births and 9.3 per 1000 total births. The rate was higher in summer, in ...
Harris J - - 2000
Infants with kidney agenesis or dysgenesis, infants with cystic kidneys, and infants with horseshoe kidneys were studied, based on data from three large and population-based congenital malformation registers: a total of 2666 infants among 5.83 million births. There is a strong variability between programs of the rates of registered unilateral ...
Bigner D R - - 2000
This is a case of congenital fiber-type disproportion that presented prenatally with bilateral clubfoot, hydramnios, and reduced fetal movements. Although prognosis is generally good for this condition, the neonate presenting at birth may have a more severe form of congenital fiber-type disproportion with a high rate of mortality.
Stoll C - - 2000
OBJECTIVE: Infants with oral clefts (OCs) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. METHOD: The prevalences at birth of associated ...
Jaikrishan G - - 1999
In the densely populated monazite-bearing sands of Kerala, on the southwest coast of India, natural radiation dose rates range from 1. 0 to over 35.0 mGy per year in certain well-defined high-level natural radiation areas. As a part of the program to assess the health effects of this naturally occurring ...
Källén K - - 1999
The CHARGE Association is a nonrandom occurrence of congenital malformations that has been described in clinical series. Reported patients have been selected on the basis of certain prior criteria. In this article, we try to identify a congenital malformation pattern corresponding to the CHARGE Association, using statistical methods and analyzing ...
Mehta L - - 1999
BACKGROUND: Lateral nasal proboscis is a rare anomaly resulting in incomplete formation of one side of the nose and other variable abnormalities in the adjoining regions of the face, without associated brain malformations. We report a case diagnosed antenatally and confirmed after birth of the infant. CASE: A 32-year-old white ...
Olney D R - - 1999
OBJECTIVE: To determine 1) airway outcome of infants with laryngomalacia who do not undergo routine direct laryngoscopy (DL) and bronchoscopy (B), 2) the age at resolution of laryngomalacia, and, 3) outcome of supraglottoplasty as a function of the type of laryngomalacia and the presence of concomitant disease. STUDY DESIGN: Retrospective ...
Rollins N - - 1999
Chiari II malformations and holoprosencephaly have been considered to be brain malformations that differ with respect to teratogenic insult, embryologic mechanism, and morphology. We herein describe coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant. A review of the literature regarding Chiari II malformations and holoprosencephaly suggests ...
Lin S C - - 1999
A splint has been designed to correct the congenital clasped thumb. It is like a short opponens splint that can keep the thumb in a position of abduction and extension without limiting wrist movement. The application of the splint was easy and adjustment for fit could be made at each ...
Bodensteiner J B - - 1999
A 9-month-old male infant was floppy from birth with nonprogressive facial and distal limb weakness and apparently normal mother and father. The facial characteristics and distribution of involvement suggested congenital myotonic dystrophy and the infant, but not the mother, had insertional myotonia in one of four muscles tested. Had the ...
Bishai R - - 1999
A 4-year-and-10-month-old girl was diagnosed shortly after birth with persistent hyperplastic primary vitreous (PHPV). Her mother took clomiphene 100 mg daily for approximately 4 weeks and discontinued the drug once she had a positive pregnancy test. The exact time of gestation was not clear. Clomiphene is an estrogen antagonist effective ...
Kiratli H - - 1999
A 2.5-year-old male infant with agenesis of the corpus callosum and Leber's congenital amaurosis is described. The infant had nystagmus as the presenting sign. The fundi showed circumscribed macular atrophy with encircling retinal pigment epithelial hyperplasia (macular coloboma-like lesions), attenuation of the retinal arterioles, and very fine pigment dusting in ...
Wen S W - - 1999
To assess the regional patterns of infant mortality due to lethal congenital anomalies, and the potential reasons for the regional patterns. The study analyzed 2,507 infant deaths due to lethal congenital anomalies among 1,178,452 live births in 9 of the 12 Canadian provinces and territories from 1990 to 1995 recorded ...
Naguib K K - - 1999
BACKGROUND: Trisomy 18 (Edwards' syndrome, T18) is the second most common trisomy in man. We describe 118 children with regular T18 who were ascertained clinically and cytogenetically in the Kuwait Medical Genetics Centre during 1980-1997. METHODS: Ascertainment of T18 cases was performed shortly after birth. Chromosomal studies were carried out ...
Källén K B - - 1999
BACKGROUND: Infants with multiple malformations are important in birth defect epidemiology and malformation monitoring because human teratogens have often caused complex malformations. Various methods for the analysis of multimalformed infants have been tried. METHOD: By using data from four large registries of congenital malformations, 5256 infants were identified with two ...
Sande J E - - 1999
Congenital and neonatal leukemia occur rarely, yet carry high mortality rates and pose special problems for the perinatologist and hematologist. Although the etiology is unknown, the presence of leukemia at birth suggests genetic abnormalities and possibly intrauterine exposures to drugs or other toxins as contributing factors. Specific chromosomal rearrangements that ...
Kim E S - - 1999
A case of congenital epulis in a triple X infant, whose intra-oral mass was first detected on a 33-week prenatal ultrasound, is described. Two previous ultrasound studies performed at 21 and 28 weeks' gestation showed normal facial anatomy, suggesting accelerated tumour growth during the third trimester. Genetic amniocentesis also showed ...
Steiner Z - - 1999
A rare case of a gastrointestinal cystic duplication in a 7-day-old infant is described. The duplication diagnosed antenataly at 25 weeks of gestation was found during surgery to be separated from the gastrointestinal tract, hanging on a vascular pedicle, with no connection to the mesentery. The duplication was excised, and ...
Kaiser J R - - 1999
BACKGROUND/PURPOSE: Although neonatal care has improved over the past 20 years, mortality rate with congenital diaphragmatic hernia (CDH) remains 50% to 60%, possibly reflecting differences in management or selection biases. The authors determined the incidence, outcome, effect of coexisting anomalies, and prognostic indicators for neonates with CDH in a single ...
Benzick A E - - 1999
A preterm, very low birth weight infant was born to a mother with early latent syphilis who was treated 10 days and 3 days before delivery with 2.4 mU of benzathine penicillin. The infant had clinical, laboratory, and radiographic abnormalities consistent with congenital syphilis, ie, a Venereal Disease Research Laboratory ...
Pohl M - - 1999
A previously healthy male infant developed hepatosplenomegaly, severe anaemia and thrombocytopenia 5 weeks after birth. Marked haemophagocytosis was present in the bone marrow. A typical maculopapular rash suggested early congenital syphilis. The diagnosis was confirmed by serology and by the presence of untreated syphilis in both parents. Syphilis needs to ...
Wong Diane C. - - 1999
PURPOSE: To analyze the predictive value of early postnatal ultrasonography in congenital hydronephrosis. SUBJECTS AND METHODS: A retrospective study was conducted of 77 affected infants at our institution. All postnatal ultrasound studies were evaluated using 2 classification systems, the Anterior-Posterior Diameter (APD) system and the Society for Fetal Urology (SFU) ...
Ami M B - - 1999
Persistence of the right umbilical vein is variably associated with life-threatening malformations of the fetal genitourinary, gastrointestinal, cardiac, and skeletal systems. Varices of the intraabdominal umbilical vein, although not necessarily associated with other malformations, do seem to carry a risk of fetal mortality, especially if they are large or appear ...
Aslan Y - - 1999
Congenital primary hypoparathyroidism is very rare in infancy. It may be isolated or associated with other developmental defects, arising from the third and fourth pharyngeal pouches such as DiGeorge syndrome. Initial symptom of isolated primary hypoparathyroidism in an infant is usually generalized convulsion due to hypocalcemia. However, the clinical spectrum ...
U─čurlu K - - 1999
Congenital fusion of the maxillary alveolar process and mandible is a very rare entity. A one day old male newborn was referred to our clinic with a diagnosis of a 'absence of oral cavity'. Physical examination revealed that there was no mouth opening bilaterally in the posterior region due to ...
Kuehl K S - - 1999
OBJECTIVE: To identify factors that predict failure to diagnose congenital heart disease in newborns. DESIGN: All fatal cases in the Baltimore-Washington Infant Study were compiled. The Baltimore-Washington Infant Study includes 4390 cases of infants with congenital cardiovascular malformations identified in a population-based study between 1981 and 1989 in the Baltimore-Washington ...
Mastroiacovo P - - 1999
Data provided by nine registries based in European and Latin America countries were analyzed to assess whether there is an excess of malformations in twins compared to singletons. Specific congenital malformations were coded according to the ninth revision of the International Classification of Diseases (ICD). Malformation rates and rate ratios ...
Tsai F J - - 1999
OBJECTIVE: To define the nature and incidence of minor anomalies in Chinese newborn infants and to evaluate the validity of the hypothesis that infants with three or more minor surface anomalies will also have a major malformation. METHODS: A total of 3,345 Chinese newborn infants were examined based on a ...
Rylander L - - 1999
OBJECTIVES: The aim of the present study was to assess whether a high dietary intake of fatty fish from the Baltic Sea, contaminated with persistent organochlorine compounds, might increase the risk for congenital malformations and perinatal death. METHODS: A cohort of fishermen's wives from the Swedish east coast (at the ...
Grech V - - 1999
AIM: Recent studies have shown a correlation between environmental pollutants and increased risk of selected congenital malformations. The South-East area of the Island of Malta is much more industrialised than the more rural North-West area. The aim of this study was to test the null hypothesis that there are no ...
To W W - - 1999
OBJECTIVE: To evaluate the relationship between maternal smoking and fetal congenital central nervous system malformations. METHODS: Retrospective review of all cases of fetal congenital malformations of the central nervous system (CNS) identified at or shortly after birth over a 10-year period (1986-1995) in a university teaching obstetric department. RESULTS: The ...
Beke A - - 1999
The authors present the results of their follow-up studies of data from the last four years on patients with congenital ventriculomegaly. OBJECTIVE: To study the psychomotor and mental developmental outcome of neonates with congenital ventriculomegaly diagnosed prenatally. In addition, patients were also classified into subgroups with subgrouping based on the ...
Rahi J S - - 1999
PURPOSE: Active surveillance has not been widely used in ophthalmologic research. The use of capture-recapture analysis to determine completeness of case ascertainment by active surveillance in a national study of congenital cataract is reported. METHODS: In 1 year in the United Kingdom, all incident diagnoses of congenital and infantile cataract ...
Garne E - - 1999
The study describes the epidemiology and mortality of tetralogy of Fallot (TOF) in a population-based study in Western Denmark. Ninety-two infants with TOF were born during 1984-1992. Prevalence was 3.01 per 10,000 livebirths. Karyotype anomalies were present in 12 (13%) and extracardiac malformations in 16 (17%) of the infants. Down ...
Stoll C - - 1999
The risk for birth defects in the offspring of first-cousin matings has been estimated to increase sharply compared to non consanguineous marriages. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth ...
Ainsworth S - - 1999
AIM: To determine the prevalence and clinical significance of murmurs detected during routine neonatal examination. METHODS: In a two year prospective study, 7204 newborn babies underwent routine examination by senior house officers. All those with murmurs underwent echocardiographic examination. All babies presenting later in infancy were also identified, to ascertain ...
Stoll C - - 1999
The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from ...
Possoegel A K - - 1999
Esophageal atresia (EA) is often accompanied by vertebral defects and other anomalies. The adriamycin rat model of EA has disclosed the embryology of the malformation and shown that the vertebrae and notochord are also abnormal. This study describes the nature of notochord malformations in rat embryos exposed to adriamycin. Time-mated ...
Tateno M - - 1999
Recently, stent implantation has become the treatment of choice for patients with tracheobronchial stenosis due to malignant tumours, tuberculosis and recurrent stenosis following lung transplant. However, reports on this procedure in infants with congenital bronchial stenosis are extremely rare. We report successful stent implantation in an infant with congenital left ...
Boyd P A - - 1998
BACKGROUND: The benefits and harm associated with prenatal diagnosis are open to debate. We give a 6-year overview of the experience of one prenatal-diagnosis unit using a defined, unselected population. METHODS: All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the ...
Prendergast B - - 1998
This report describes a case of a pre-term infant with congenital cystic adenomatoid malformation involving the whole lung who received a life-saving pneumonectomy. The challenges in decision-making, surgery, and subsequent management are discussed. The principles are applicable in general to a number of babies in a paediatric intensive care unit.
Bhat B V - - 1998
Congenital malformations were studied prospectively from September 1989 to December 1992 covering 12,797 consecutive deliveries. The overall incidence of malformations was 3.7% and it was 3.2% among live births and 15.7% among still births. Three hundred and ninety seven birth defects were observed among 308 live births and 72 among ...
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