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Yang L L - - 1996
PURPOSE: We studied a case of corneal ulceration in utero from lower eyelid entropion. METHODS: A 3-week-old male infant was referred for examination of a left corneal ulcer that was present at birth and unresponsive to antibiotics. RESULTS: Examination disclosed a lower eyelid entropion that was treated surgically by a ...
Goldenberg J D - - 1996
The true bifid epiglottis is a rare congenital anomaly typically discovered during the evaluation of stridor in an infant or newborn. While it is not classified as a specific syndrome, there are frequent associations of other congenital anomalies with the bifid epiglottis. These include midline defects (such as microphallus, hypospadius, ...
Macdonald J M - - 1996
OBJECTIVE: To describe the presentation and investigation of an unusual form of congenital dorsal midline thoracic mass. RESULTS: An infant born by emergency Caesarean section at 34 weeks gestation was found to have a large dorsal midline thoracic mass. The infant had normal neurological function in all limbs. Radiological investigation ...
Ozkan H - - 1996
Congenital chylothorax is a rare condition in which chyle accumulates in the pleural space because of an intrauterine obstruction or anomalies of the thoracic duct. This paper presents a case of congenital chylothorax diagnosed antepartum echographically. The patient's history revealed a previous sibling with a similar diagnosis. The baby developed ...
Irl C - - 1995
This study considers whether or not exposure to radioactive fallout from the Chernobyl accident led to an increased prevalence of congenital malformations in infants born in Bavaria, the German state with the highest levels of contamination after the accident. The odds ratios for major malformations after the accident relative to ...
Towner D - - 1995
OBJECTIVE: To determine whether the use of oral hypoglycemic agents during early pregnancy is associated with a risk of congenital malformations in infants of mothers with non-insulin-dependent diabetes mellitus (NIDDM) independent of maternal metabolic control. RESEARCH DESIGN AND METHODS: From a prospectively collected data-base of pregnancies complicated by diabetes at ...
Sener R N - - 1995
In patients with Chiari I malformation there usually is no anomaly of the supratentorial structures. In this communication we report a patient with Chiari I malformation, callosal dysgenesis, and an ectopic neurohypophysis. Both the splenium and the rostrum of the corpus callosum were hypoplastic, suggesting an intrinsic error which operated ...
Embon C M - - 1995
Congenital leukemia is a rare hematological disorder. The initial manifestation of the disease may be the presence of blue or gray skin nodules. The presence of these nodules along with hyperleukocytosis, anemia, hepatosplenomegaly, and central nervous system leukemic involvement are characteristic of the disease. Treatment involves the administration of chemotherapy ...
Leighton D M - - 1995
Over 15,000 children are born each year as a result of the various techniques of assisted conception. In 1991, there were 2083 live births in Australia and New Zealand as a result of these techniques. Radiological abnormalities relating to the increased rate of prematurity, a probable increase in the risk ...
Jones D - - 1995
Congenital adrenal hypoplasia has been estimated to occur in approximately 1 of 12,500 births. Hyperpigmentation associated with this condition typically appears gradually during a period of months to years. We describe a newborn infant with profound hyperpigmentation in whom adrenal crisis subsequently developed as a result of congenital adrenal hypoplasia.
Stewart D L - - 1995
Neonatal mortality due to congenital malformations or genetic disorders has not decreased despite a decrease in overall neonatal deaths with recent advances in medical technology. As a consequence, an increasing percentage of neonatal deaths is attributable to congenital malformations and genetic disorders. This study retrospectively reviewed neonatal deaths associated with ...
Williams C L - - 1995
This report describes a cohort study of over 5000 infants and their mothers who participated in a cord blood serosurvey designed to examine the relationship between maternal exposure to Lyme disease and adverse pregnancy outcome. Based on serology and reported clinical history, mothers of infants in an endemic hospital cohort ...
Kjaer I - - 1995
The routinely performed autopsy of a macerated fetus will often be of dubious value, particularly as regards the examination of the central nervous system (CNS). Former studies have demonstrated a close relationship between certain CNS malformations and axial skeletal malformations revealed radiographically. In the present report a postmortem examination of ...
Mussat P - - 1995
We consecutively managed 25 cases of fetal chylothorax with hydrops (pleuroamniotic shunting in 20/25 cases). Three of the 16 liveborn infants died before day 5 from malformations (n = 1) or complications of antenatal origin (n = 2). Eleven of the 13 survivors were treated in our unit. Four infants ...
Porter H J - - 1995
Arthrogryposis multiplex congenital (AMC) is the presence at birth of multiple congenital contractures in an intact skeleton. The severity of the condition is highly variable and the possible underlying causes are numerous. Fetal immobility and lesions of the brain, spinal cord, peripheral nerves and muscle, along with mechanical restriction of ...
Ryan C A - - 1995
Two infants with unusual bronchopulmonary malformations associated with congenital diaphragmatic hernia (CDH) are presented. One infant had extralobular sequestration and cystic adenomatoid malformation of the lower lobe, in addition to a left-sided CDH. The second infant had a laryngotracheoesophageal cleft extending to the carina (type III) in addition to a ...
Mansilla J - - 1995
Congenital syphilis has been diagnosed very seldom in ancient populations. The case that we examined comes from San Jeronimo's Church (17th and 18th centuries AD; Mexico City). Coffin 43 contained an incomplete skeleton of an approximately 2-year-old infant. The pathological lesions of this skeleton include bilateral osteochondritis, diaphyseal osteomyelitis, and ...
Ghadouane M - - 1995
Early congenital syphilis is still common in Morocco, where it causes a large number of stillbirths and neonatal deaths. Over the last 16 years, we managed 86 cases of congenital syphilis in infants aged one day to four months. Multiple organs were affected in half the patients. Skeletal lesions were ...
Croen L A - - 1995
This study examined the prevalence of congenital malformations across the maternal age spectrum and identified specific malformation types that contributed to the overall prevalence among mothers under the age of 20 years. Data were derived from the California Birth Defects Monitoring Program for 1983 through 1988 live births. The distribution ...
Mejides A A - - 1995
BACKGROUND: Congenital hepatic arteriovenous malformations complicated by high-output heart failure and hematologic derangements are associated with up to 90% mortality. Prenatal diagnosis alerts the pediatrician to the need for early neonatal intervention. CASE: A fetal hepatic arteriovenous malformation with associated high-output cardiac failure was diagnosed at 29 weeks' gestation using ...
Mukhopadhyay A K - - 1995
A two-and-half month-old female infant with cavernous haemangioma, agenesis and syndactyly of toes, microophthalmia and microcornea is reported.
Yates J M - - 1995
The study was designed to assess the effectiveness of obstetric ultrasound in the diagnosis of congenital malformations and to establish its prevalence of use and timing. Statewide data were collected in 138 of the 141 obstetric hospitals in Victoria over a 12-month period during 1991-1992. Within the final cohort of ...
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 ...
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