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Results 651 - 700 of 1135
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Hsieh T T - - 1995
Over a 14-year period in Chang Gung Memorial Hospital, 510 out of 44, 362 newborns were found to have birth defects. Maternal age, gestational age, parity, infant sex and birth weight were analyzed for each anomaly and compared to normal newborns. The average maternal age and parity for newborns with ...
Cusick E L - - 1995
A longitudinal study identified 987 foetal uropathies over a 13-year period. There were 147 deaths. Forty infants died as a result of a lethal uropathy in the presence of associated congenital anomalies. Sixty-six infants with an isolated uropathy died. There were 4 cot deaths, 2 obstetric related deaths, and 34 ...
Hirahara F - - 1995
We describe a female infant with tracheal agenesis associated with severe complicated malformations including the cardiovascular system. The patient was born of a mother with mosaic Turner's syndrome at 35 weeks of gestation after premature rupture of the membranes during treatment for polyhydramnios. The patient died 2 days after birth ...
Weinblatt M E - - 1995
A cytogenetically normal infant with Kostmann syndrome (severe congenital granulocytopenia) was treated with granulocyte colony-stimulating factor, which resulted in a rapid improvement in his neutrophil count and a resolution of recurrent infections. After 11 months of therapy, splenomegaly developed, with thrombocytopenia, anemia, circulating nucleated erythrocytes, and acquired monosomy 7, which ...
Cirillo-Hyland V A - - 1995
We observed a newborn infant of a previously reported kindred with absent dermal ridge pattern, syndactyly, and facial milia. The infant's features were consistent with three other kindreds, suggesting that this entity is a single disorder with variable expression. Furthermore, this entity should be considered in the differential diagnosis of ...
Melzi M L - - 1995
Obstructive uropathy causes tubular resistance to aldosterone and severe metabolic imbalance may be precipitated by an episode of pyelonephritis. In the last 3 years we investigated 52 episodes of pyelonephritis (positive urine culture, elevated C reactive protein, fever, elevated neutrophil count) in 50 children between 15 days and 15 months ...
Fletcher J M - - 1995
A 2-day-old infant with lethargy and hypoventilation had pachygyria and agenesis of the corpus callosum on CT scan. Increased concentrations of glycine in plasma and CSF, together with an increased CSF/plasma ratio, confirmed a clinical diagnosis of non-ketotic hyperglycinaemia. This is the first report of pachygyria in this disorder, although ...
Bittar Z - - 1995
A prospective study of major congenital anomalies (MCA) in the newborn is planned for 3 years. This preliminary report included 2161 consecutive newborns who were examined in one year for the presence of MCA in one center whose population is mostly of unfavourable living conditions. Major anomalies were found in ...
Cruz T V - - 1995
A preterm female infant was diagnosed with congenital adrenal hyperplasia after the first month of life. Electrolyte abnormalities and prominent clitoris were originally attributed to the prematurity of the infant. Congenital adrenal hyperplasia was confirmed when the abnormalities persisted. Delay in diagnosis can be prevented with the installation of newborn ...
Samaha I - - 1995
The prevalence of congenital malformations among births (live and still birth) at Ain-Shams Maternity Hospital was examined. Fifty five malformation cases were found among the whole births examined (1157 births) over the 9-month study period, this yields a prevalence rate of 4.75%, a rate similar to the worldwide prevalence rate. ...
al-Gazali L I - - 1995
The aim of this study was to establish the profile of major congenital malformations in the United Arab Emirates (UAE) population which has a high rate of consanguinity. All births with birth weight above 500 g in the three hospitals in the Al Ain Medical District of UAE were prospectively ...
Delport S D SD Department of Paediatrics, University of - - 1995
The aim was to study the spectrum of clinical problems and outcomes in infants born at an urban academic hospital. In consequence, as part of the overall study, the incidence of congenital anomalies and the outcomes of affected infants were recorded. This was a prospective, hospital-based study, undertaken on liveborn ...
Avrech O M - - 1994
OBJECTIVES: To describe an extremely rare anomaly in an infant born after IVF-ET, and to assess its possible relationship to the artificial reproductive technology. DESIGN: Case report. SETTING: Infertility and IVF Unit, in a tertiary academic medical center. PATIENT: A 31-year-old healthy patient with a 9-year history of secondary, unexplained ...
Stone D H - - 1994
The Glasgow Register of Congenital Anomalies reports the highest birth prevalence of congenital anomalies of all 18 participating centers in the EUROCAT project for the years 1980 to 1988. A high prevalence is found in most defect categories, with Glasgow in the top three places in the EUROCAT "league" in ...
Houlston R S - - 1994
We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q ...
Blayney M - - 1994
We describe the ocular findings in eight patients with congenital myotonic dystrophy in the newborn period. While three infants had normal findings, five infants had evidence of persistent tunica vasculosa lentis (TVL) at gestational ages ranging from 34 to 40 weeks. Atrophy of vessels on the anterior lens capsule is ...
Ackroyd R - - 1994
In a retrospective study of 92 patients admitted between 1975 and 1986 with anorectal malformations, we reviewed the faecal continence according to the level of their anomaly using a scoring system taken from Pescatori et al. The results of the different operative procedures were compared. Forty-seven of the 50 patients ...
Fukumizu M - - 1994
Neuropathological and immunohistochemical studies were done on the brain-stem of neonates who had congenital hydrocephalus with aqueductal stenosis or Arnold-Chiari malformation (ACM). The infants with aqueductal stenosis showed heterogeneity in their clinicopathological findings while the infants with ACM were relatively similar in neuropathological findings. There were prominent astrogliosis, decreased immunoreactivity ...
Trawöger R - - 1994
The authors report a preterm boy, born at 35 weeks gestation with hydrocephalus and an open sacral myelomeningocele. Cranial ultrasound showed ventricular dilatation with posture-dependent intraventricular bright echoes, representing air. Ultrasound of the cervical spine and the craniocervical junction revealed marked hydromyelia of the whole spinal cord, as well as ...
Swain S - - 1994
Three thousand nine hundred and thirty-two consecutive newborns were examined at birth for the presence of congenital malformations. The overall incidence of malformations was 1.2%. Congenital malformations accounted for 9.2% of perinatal and 12.8% of neonatal deaths. The central nervous system (39.5%) was most commonly involved followed by musculoskeletal system ...
Jasnosz K M - - 1994
Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral absence of the diaphragm is a very rare variant, with six cases reported in the literature. A 1040 g black male infant was born at 27 weeks' gestation to a 28-year-old black woman with a history ...
Monteleone-Neto R - - 1994
Anencephaly is Suspected to cluster in the municipality of Cubatão (Brazil), and is attributed to industrial pollution. We surveyed malformations prospectively in 10,000 births, in 3 consecutive series, corresponding to 3 maternity hospital in Cubatão, under working definitions and norms taken from the ECLAMC (Latin American Collaborative Study of Congenital ...
Spagnolo A - - 1994
Following the report on clusters of anophthalmia and microphthalmia in England and Wales and their possible relation to the pesticide Benomyl, we analyzed the situation in Italy for the period 1986 to 1990 using data from the Italian registries of congenital malformations and national data on Benomyl use. Of 940,615 ...
Donnenfeld A E - - 1994
Congenital transient leukaemia (CTL) is a haematological disorder characterized by proliferation of myeloblasts within the bone marrow and peripheral blood of affected newborns. Infants with Down syndrome are most frequently affected and although the disorder can result in fetal death due to hydrops, it typically resolves spontaneously after birth. We ...
Newbould M J - - 1994
OBJECTIVE: To assess the value of the autopsy findings on a series of infants dying with features of the oligohydramnios sequence, with particular reference to anomalies of the renal tract. DESIGN: Retrospective review. SETTING: Pathology departments serving three maternity units in Manchester. SUBJECTS: Eighty-nine infants having an autopsy examination between ...
Starling S P - - 1994
Syphilis is a disease very much on the rise in certain populations in this country. It has reached epidemic proportions in some areas. This trend should be a concern to physicians caring for children in the United States. Rates of congenital syphilis are continuing to rise. Certainly, the poor prenatal ...
Wilson J M - - 1994
It has been reported previously that infants diagnosed with congenital diaphragmatic hernia (CDH) antenatally have a much poorer prognosis than those diagnosed postnatally. The authors identified 173 high-risk (symptomatic within the first 6 hours of life) infants with CDH treated in the past decade. Seventy-seven cases were diagnosed antenatally and ...
Tulloh R M - - 1994
To compare echocardiography with clinical examination, radiography, and electrocardiography for the detection of congenital heart defects (CHD) a four year prospective study was carried out in 166 neonates with selected congenital gastrointestinal malformations (anorectal anomaly, tracheo-oesophageal fistula, duodenal atresia, exomphalos, and gastroschisis). Routine examination and investigation detected CHD in 16 ...
Hata A - - 1994
A male infant with scaphoid megalourethra, which is a rare congenital anomaly, is presented. At birth he exhibited a grossly swollen, malformed penis and cryptorchidism. The corpus spongiosum was not palpable. The infant had congenital renal failure. Retrograde urethrography revealed a crescent-shaped dilatation of the anterior urethra, and the diagnosis ...
Bode H - - 1994
A term infant with normal delivery presented with congenital tetraplegia and respiratory insufficiency just after birth. Magnetic resonance tomography on days 8 and 72 of life revealed an extreme thinning of the lower medulla oblongata. Endoscopy confirmed this and demonstrated the presence of vascular anomalies around the lesion which were ...
Meyer M P - - 1994
The diagnosis of congenital syphilis in apparently healthy infants continues to be problematic. Immunoglobulin M antibodies specific for a subset of Treponema pallidum antigens have been detected by Western blotting (immunoblotting). In the present study we investigated the sensitivity and specificity of this method. We tested 26 infants aged 0 ...
Cabañas F - - 1994
Thirty-seven infants whose cerebral real-time B-mode ultrasound (CUS) documented hyperechogenic areas in the thalamus and basal ganglia (HTBG) either of linear or fine punctate pattern, were studied prospectively by color Doppler imaging (CDI). This study aimed to establish a relationship between these areas and the regional vasculature, to analyze associated ...
Levin T L - - 1994
Radiologic evaluation is valuable for confirmation of congenital syphilis. Bony abnormalities are thought to be secondary to active disease or a growth response of bone to systemic illness. Anteroposterior lower extremity radiographs of 85 euthyroid term infants (> or = 38 weeks' gestation; mean weight, 3244 gm; range, 1940-4380 gm) ...
Jaruratanasirikul S - - 1994
We report on an infant with double trisomy 48,XXX, + 18. She presented with manifestations of trisomy 18: prominent occiput, microphthalmia, small mouth, micrognathia, malformed ears, congenital heart defect, overlapping fingers, talipes equinovarus, and rockerbottom feet. An extra palmar crease was present only on the right hand. This patient was ...
Hamilton R L - - 1994
Complete absence of the cerebellum is an extremely rare malformation. Most previous cases have had some remnant of cerebellar cortex, however small. We report two infants with complete absence of the cerebellum. One infant had hydrocephalus and numerous other malformations. The other infant had micrencephaly, which has not previously been ...
Schmitz J L - - 1994
We screened cord blood or serum samples from 101 infants at risk for congenital syphilis and serum samples from their mothers for immunoglobulin G (IgG), IgM, and IgA antibodies to Treponema pallidum by western blotting (immunoblotting). Clinical evaluation showed that six infants had signs and/or symptoms consistent with congenital syphilis. ...
Sumida S - - 1994
We studied the development of the pharynx in human embryos and fetuses. Embryos and fetuses from 4.5 mm crown-rump length (CRL) to 40 mm CRL were processed for microscopic examination. Normal fetuses from 32 mm CRL to 250 mm CRL and fetuses with malformations of the central nervous system (CNS) ...
Stevens C A - - 1993
Abdominal gestation is a relatively uncommon complication of pregnancy. Previous reports describe a high incidence of fetal deformations and mortality as well as maternal mortality. A case of twin abdominal gestation is presented and the literature concerning abdominal pregnancy since 1809 is reviewed. The survival rate of liveborn infants of ...
Reyes M P - - 1993
Among the women delivering a total of 9,591 infants in 1990 at Hutzel Hospital in Detroit, 148 had positive results in the rapid plasma reagin (RPR) and fluorescent treponemal antibody-absorption tests for syphilis. This group included primarily young, black, multigravid women with a history of crack cocaine use. RPR titers ...
Halliday J - - 1993
Record linkage between a prenatal diagnosis register and a congenital malformation register in the state of Victoria, Australia, has enabled further evaluation of the suggested association between limb deficiencies and early chorion villus sampling (CVS). We found 3 anomalies in this category after later CVS (i.e., 9 weeks and beyond), ...
Gensburg L J - - 1993
A descriptive epidemiological study of congenital cardiovascular malformations (CCM) was performed to evaluate the use of a model which groups selected cardiac lesions according to time of embryonic origin. Infants born from 1983-1986 to residents of New York State excluding New York City and reported to the Congenital Malformation Registry ...
Robert E - - 1993
Epidemiologic data were analyzed for a total of 2,693 infants with esophageal atresia registered in nine congenital malformation registries around the world. The average recorded prevalence at birth was 2.6 per 10,000 births, with a significant variability among programs--and sometimes within a program--and a maximum prevalence of above 3 per ...
Merino G - - 1993
Sexually transmitted pathogens are associated with a wide range of anomalies and diseases, including recurrent genital herpes, urethritis, syphilis, prostitis, genital ulcers, perihepatitis, unexplained infertility, infant prematurity, low birth weight, and neonatal death or malformations. Prompt diagnosis of sexually transmitted diseases (STDs) is essential to ensure appropriate specific treatment and ...
Vernon-Roberts E - - 1993
A perinatal death presenting as a possible homicide is reported. An infant was born with a cleft palate, but without other apparent abnormality, to a mother who experienced postpartum depression. The infant apparently died during feeding. A death certificate, giving cot death and congenital malformations as the causes of death, ...
Thisted E - - 1993
An unselected series is presented of 17 infants born to epileptic mothers and exposed to sodium valproate during pregnancy. Nine infants had minor abnormalities and of these infants five also had major malformations, described as the 'fetal valproate syndrome'. The most frequent malformation was congenital heart disease. Nine of the ...
Niemsiri S - - 1993
Analysis of congenital syphilis in 455 infants and neonates between 1977-1991 in Children's Hospital, Bangkok, Thailand revealed 11 cases (2.4%) with evidence of congenital syphilitic nephrotic syndrome which were confirmed by clinical, serologic and laboratory findings, long bone x-rays and renal biopsy. Ages of all 11 cases were between 1 ...
Hemminki E - - 1993
The utility of three national registers--the malformation, birth, and hospital in-patient discharge registers--in identification of malformations among 60,255 children born in 1987 in Finland was compared. Information in the malformation register is collected by specific reporting of physicians; information on the malformed children in the other two registers in 1987 ...
Anegawa S - - 1993
A female infant with Arnold-Chiari malformation type II developed cystic dilatation of the fourth ventricle at age 15 months. She received shunt emplacement into the dilated fourth ventricle to restore communication to the subarachnoid space and achieved improved symptoms and decreased ventricular size. Such dilatation is a typical feature of ...
Gurry D L - - 1993
OBJECTIVE: To report two cases of congenital syphilis, a disease which should have been prevented. CLINICAL FEATURES: Two infants, both from the country, presented to Princess Margaret Hospital for Children. Case 1, a boy of five months, had unexplained fractures of radius and clavicle, suggesting non-accidental injury, a belief which ...
Helveston E M - - 1993
Congenital esotropia develops in the first 4 months of life in an infant who lacks the inborn mechanism for motor fusion. It manifests as an esotropia which is not eliminated by correction of hyperopia and occurs in an otherwise neurologically normal infant. The earliest practical time for surgery is 4 ...
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