Search Results
Results 501 - 550 of 1157
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Abou-Jaoude E S - - 2000
Oval-shaped cornea associated with true lens duplication and separate capsules is a rare anomaly. It can occur as an isolated finding(1,2) or be associated with other ocular and facial maldevelopments.(3-5) We report a novel association of an hourglass cornea, lens duplication, and optic nerve hypoplasia with myelomeningocele in a male ...
Lahat E - - 2000
Congenital asymmetric crying facies, a minor congenital anomaly due to absence or hypoplasia of the depressor anguli oris muscle on one side of the mouth, is associated at times with major congenital anomalies, most commonly in the cardiovascular system. In a prospective study of 5532 infants born at the Assaf ...
Drinkard C R - - 2000
PURPOSE: This retrospective surveillance study used linked administrative claims data and medical records to determine the rate and types of birth malformations in infants born to women exposed to the antibiotic, clarithromycin (Biaxin), during the first trimester of pregnancy. METHODS: Pharmacy and hospital claims from eight geographically diverse health plans ...
Weintraub M - - 2000
Congenital leukaemia (CL) is a rare disorder that presents with extramedullary infiltrates and a myeloid phenotype. CL can progress rapidly without adequate treatment, but, paradoxically, may also remit spontaneously. Because of the significant toxicity involved in delivering chemotherapy to newborns, it is important to identify those newborns who may not ...
Melamed Y - - 2000
OBJECTIVE: (1) To compare the preterm delivery rates in the Bedouin versus the Jewish population. (2) To compare risk factors for preterm delivery in the two populations. (3) To compare outcomes of preterm delivery between the two groups. STUDY DESIGN: 41669 Jewish singletons births of whom 2816 delivered preterm (23-36 ...
Arpino C - - 2000
The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use of a surveillance system (MADRE) of infants with malformations. Information on all malformed infants (1990-1996) with maternal first-trimester drug exposure was collected by the International Clearinghouse for Birth Defects and Monitoring Systems (ICBDMS). Cases were ...
Addor M C - - 2000
Since 1988 the epidemiological surveillance of congenital anomalies (malformations, chromosomal aberrations, metabolic diseases, hereditary diseases, neurosensorial defects, etc.) is carried out by the Swiss registry of EUROCAT (European Registry of Congenital Anomalies and Twins). Several Swiss cantons collaborate through their own local registry, transmitting data to the central registry in ...
Hunter S - - 2000
OBJECTIVE: To examine the results of fetal cardiac scanning and audit the changes in performance resulting from the introduction of a training programme for obstetric ultrasonographers. METHODS: Using the database of the Northern Regional Congenital Abnormality Survey (NORCAS), fetuses with complex or significant congenital heart disease (CCHD) diagnosed prenatally in ...
Rosano A - - 2000
STUDY OBJECTIVE: To provide an international perspective on the impact of congenital anomalies on infant mortality from 1950 to 1994. DESIGN: Population-based study based on data obtained from vital statistics reported to the World Health Organisation. SETTINGS: 36 countries from Europe, the Middle East, the Americas, Asia, and the South ...
Brasil R - - 2000
Purpose- To evaluate the risk of having a baby with congenital anomalies in mothers who used misoprostol during pregnancy.Methods- Hospital-based case - control study from Hospital Chateaubriand, Fortaleza, Brasil. Cases were 37 babies weighing less than 1500 g with congenital anomalies of various types, and the comparison group included 387 ...
Ojemann J G - - 2000
In 2 cases of infants with the Chiari II malformation, a prepontine cyst presented in association with the hindbrain abnormalities characteristic of the Chiari II syndrome. Both infants presented with bulbar dysfunction and had poor outcome despite decompression of the cerebellar tonsillar herniation and drainage of the prepontine cysts. No ...
St John M A - - 2000
Rubella and congenital rubella syndrome (CRS) are preventable, but epidemics of rubella and CRS are not infrequent in the Caribbean and other developing countries. As a result of a surveillance system initiated after an epidemic of rubella in the Barbadian population in 1996, cases of CRS were identified and investigated. ...
Haas F - - 2000
OBJECTIVE: Previous reports have suggested that prematurity and low birth weight are risk factors for definitive surgical intervention in congenital cardiac malformations. The following data review our experience with primary repair of the complex malformation of aortic arch obstruction with ventricular septal defect (VSD) in this patient population. METHODS: Since ...
Linhart Y - - 2000
OBJECTIVE: To determine whether congenital anomalies are associated with a high rate of neonatal morbidity in preterm birth. STUDY DESIGN: 312 singletons (22-36 wk) with congenital anomalies that were delivered preterm were compared with a random sample of 936 preterm singleton without congenital anomalies. Data was obtained using the computerized ...
Wen S W - - 2000
BACKGROUND: We assessed the impact of recent advances in perinatal care on infant mortality due to congenital anomaly. METHODS: Analysis of trends in congenital anomaly-attributed infant mortality, using the 1981-1995 Statistics Canada's birth and death records, with a total of 2,878,826 live births, 21,883 infant deaths, and 6, 908 infant ...
Källén K - - 2000
Using a novel method for the analysis of infants with multiple malformations, we investigated the cluster of associated malformations called the OEIS (omphalocele, bladder exstrophy, imperforate anus, spine defect) complex among 5,260 infants with multiple malformations identified in four large registers of congenital malformations, corresponding to 5.84 million births. The ...
Kim H L - - 2000
OBJECTIVE: Anorectal malformations are usually diagnosed at birth, but some patients have presented to this institution beyond the early newborn period without recognition of their anorectal malformations. To quantify the extent of this problem, we undertook a review of all patients presenting to this hospital with anorectal malformations. METHODS: We ...
Nowaczyk M J - - 2000
We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an adjacent-1 segregation of a t(2;7)pat. The chromosomal abnormality was diagnosed prenatally after sonographic detection of HPE in the fetus. The baby was born at 37 weeks gestation, and died ...
Thompson A J - - 2000
There is a recognised association between major gastrointestinal (GI) malformations and congenital heart disease (CHD). A retrospective study over 10 years involving 240 infants born with gastrointestinal malformations was conducted in the Royal Belfast Hospital For Sick Children (RBHSC). We felt it was important to look at the incidence of ...
Landau D - - 2000
Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants' parents were first degree cousins and belonged ...
Sabharwal A J - - 2000
Analyses of survival data of neonates born with congenital diaphragmatic hernia (CDH) can be misleading. There is a hidden mortality only apparent when fetuses with CDH are included in the analysis. A retrospective review of all post mortems with a diagnosis of CDH in the West of Scotland over a ...
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 ...
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