Search Results
Results 601 - 650 of 1177
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Skari H - - 1998
OBJECTIVE: The aim of the present study was to examine the sensitivity of prenatal ultrasound diagnosis in neonates referred for surgery, and to test whether a prenatal versus postnatal diagnosis influenced mode of delivery and neonatal outcome of these infants. PATIENTS: Thirty-six consecutive neonates with congenital diaphragmatic hernia, abdominal wall ...
Takaya J - - 1998
Adrenal enlargement was followed by serial ultrasonography in an infant with congenital lipoid adrenal hyperplasia (lipoid CAH) from day 12 until 2 years and 4 months of age, when they were no longer detectable. Contrary to other types of CAH in which the configuration changes soon after replacement therapy, this ...
Jain P K - - 1998
Omphalopagus parasite is a very rare congenital anomaly. Presented here is a case in which an extra truncus was attached to an infant in the region of the epigastrium. The truncus had well-formed extremities, an abdomen, and a hypoplastic thorax. The infant had a small omphalocoele in addition to the ...
Begovic D - - 1998
We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization (FISH) studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter.
Kessel J - - 1998
Discharge of the newborn within 24 to 48 hours after birth makes it more difficult to detect some congenital malformations and increases the need for careful examination and review of the history of the pregnancy, delivery, and nursery course. Progressive physiologic changes after birth, especially in the cardiovascular system, precede ...
Barkovich A J - - 1998
We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. Retrospective analyses of the clinicoradiologic features of these patients allowed segregation of the patients into 5 distinct groups with varying outcomes. The ...
Riley M M - - 1998
OBJECTIVE: To provide an overview of the characteristics of Victorian infants born between 1983 and 1995 who are affected by one or more of 27 sentinel birth defects. METHODOLOGY: Using data on congenital malformations supplied to the Victorian Perinatal Data Collection Unit from multiple sources between 1983 and 1995, information ...
Mobley J A - - 1998
OBJECTIVES: This study examined risk factors for congenital syphilis in South Carolina. METHODS: Case infants with presumptive and confirmed congenital syphilis were compared with control infants born to women with reactive serologies during pregnancy, allowing investigation of risk factors for congenital rather than acquired transmission of syphilis. Data were collected ...
Thummala M R - - 1998
BACKGROUND/PURPOSE: Single umbilical artery (SUA) is an associated finding in many chromosomal abnormalities and congenital malformations. However, SUAcan also be seen as an isolated finding. The extent of diagnostic investigation and follow-up needed in infants with SUA as an isolated finding has long been debated. In this study the authors ...
Isaksen C V - - 1998
Detection of fetal developmental abnormalities by ultrasound examination of pregnant women has become a specialized field of medicine. Quality control of this field requires detailed examination of aborted fetuses. In 408 fetuses and infants with developmental anomalies, the prenatal ultrasound findings were compared with the post-mortem findings. This study focused ...
Moyer V A - - 1998
OBJECTIVE: To determine the contribution of long-bone radiographs to the diagnosis and management of newborn infants at risk for congenital syphilis. DESIGN: Historical cohort. SETTING: Three large hospitals in Houston, Tex. PATIENTS: Eight hundred fifty-three live born infants who were evaluated for the presence of congenital syphilis. INTERVENTION: Long-bone radiographs ...
Martinez-Frías M L - - 1998
BACKGROUND: Most of the reports on mothers with bicornuate uterus analyze fertility, reproductive capacity, and pregnancy outcomes. Very few of them, however, mention the risk for congenital anomalies in their offspring. Further, to our knowledge, no epidemiologic studies estimating the risk for congenital defects and analyzing the type of anomalies ...
Oakley G A - - 1998
We investigated the incidence of congenital malformation in all infants with raised thyroid-stimulating hormone (TSH) levels on neonatal screening in Scotland between August 1979 and December 1993. Of 344 infants with elevated TSH, 31 (9%) had one or more malformations: 12 cardiac 15 noncardiac, and 16 dysmorphic syndromes (including 5 ...
Singh Z N - - 1998
A retrospective analysis of infant autopsies in the last 14 years was done with the aim of determining the frequency of associated malformations. Renal dysplasia comprised 36 of 594 autopsies done and was the commonest congenital urologic malformation (6.06% of all infant autopsies). Histologically all cases were characterised by hallmarks ...
Tang S - - 1998
Fifty cases, 16 with sternocleidomastoid pseudotumor of infants (SCMPOI) and 34 with congenital muscular torticollis (CMT), were investigated by light and electron microscopy. The ultrastructure of the pseudotumor revealed that there were myoblasts, fibroblasts, myofibroblasts, and mesenchyme-like cells, which consisted of fibrous tissue and were regarded as fibroblasts only in ...
Comellini L - - 1998
We report a case of congenital malaria in a newborn whose mother is a native of Zaire now living in Italy. The baby developed remittent fever in the 3rd week of life with anaemia and hepatosplenomegaly. Malaria parasites found in blood smears and erroneously diagnosed initially as Plasmodium falciparum were ...
García A M - - 1998
Pesticides are chemicals that are widely used all over the world. Human beings can be exposed through environmental contamination and/or occupational use of pesticides. Although there is substantial information on the acute toxicity of many of these chemicals, available knowledge on delayed effects is much more limited. This paper reviews ...
Casanova D - - 1998
Early curettage of giant congenital naevi in new-born infants, if performed during the first few weeks after birth, can have a substantial effect on the pigmentation of the lesions, reducing the number of pigmented cells and leaving only moderate scars. We describe our experience in a series of nine congenital ...
Conover C S - - 1998
BACKGROUND: Although congenital syphilis usually occurs as a result of a failure to detect and treat syphilis in pregnant women, failures of the currently recommended regimen to prevent congenital syphilis have been reported. CASE: This report describes an infant with congenital syphilis despite maternal treatment with a regimen exceeding current ...
Parodi M B - - 1998
BACKGROUND: Iris arteriovenous communication (IAVC) represents a quite rare congenital anomaly, consisting of abnormal vascular connection bypassing the iris capillary bed. The aim of the present study is to describe clinical and angiographic pattern of IAVC on iris fluorescein angiography (IFA) and on indocyanine green videoangiography (IICGV). METHODS: During a ...
Finnell R H - - 1998
Neural tube and orofacial defects are common congenital malformations in humans. While etiologically heterogeneous, they are for the most part multifactorial in their pathogenesis, having both genetic and environmental components in their development. In recent years, there has been a great deal of epidemiologic evidence demonstrating that women who received ...
Holzki J - - 1998
One hundred-and-fifty-five neonates and infants up to the sixth month of postnatal age were investigated to reveal the cause of clinically relevant stridor. In 100 patients congenital stridor was found, in 55 children the stridor was considered to be acquired. A curled, soft epiglottis, almost synonymously used with the diagnosis ...
Ahmed A - - 1998
Congenital malaria occurs infrequently in endemic areas and is even more uncommon in the United States. Although more than 300 cases of congenital malaria have been reported, only four reports describing this disease in preterm infants exist in the English-language literature. We report the first case of congenital malaria in ...
McHugh K - - 1998
Anorectal anomalies have a reported incidence of between 1 per 1000 and 1 per 9630 live births. The international classification subdivides anorectal malformations into high, intermediate, low and miscellaneous deformities with emphasis on the sex of the child. The classification is based on where the rectum terminates in relation to ...
Rittler M - - 1997
This work analyzed the incidence of risk factors in 138 cases presenting two or more of five components defining VATERL, with no other recognized unrelated anomalies: vertebral anomalies, anal atresia, esophageal atresia with or without tracheoesophageal fistula, renal anomalies, and preaxial defects of the upper limbs, including polydactyly of the ...
Olsen C L - - 1997
Holoprosencephaly is a congenital defect of the median structures of the brain and face. The epidemiology is poorly known due to the paucity of population-based studies. This study describes the epidemiology of holoprosencephaly in a large population, using cases identified through the New York State Congenital Malformations Registry, and born ...
Greenough A - - 1997
A prospective study was undertaken to determine whether first-trimester amniocentesis or chorion villus sampling was associated with an increased incidence of congenital anomalies. The infants of mothers who had undergone first-trimester amniocentesis (EA) (n = 352), chorion villus sampling (CVS) (n = 348) or no invasive antenatal procedure (controls) (n ...
Adeyemo A A - - 1997
Major congenital malformations are unrecognised as a major cause of neonatal morbidity in many African countries. We have studied the contribution of major congenital malformations to morbidity among neonates referred to the University College Hospital, Ibadan, Nigeria over a four year period (1992-1995). Major congenital malformations were found in 11.1% ...
Herne V - - 1997
The avidity of specific IgG was investigated in three infants with serologically verified congenital rubella infection. Two sera were taken from each infant: the first soon after birth and the second at the age of 23 to 31 months. Avidity of specific IgG was measured by a protein-denaturing enzyme immunoassay ...
Peterson P E - - 1997
This paper summarizes the spontaneous incidence of congenital defects in the rhesus and cynomolgus macaque colonies (Macaca mulatta and M. fascicularis) at the California Regional Primate Research Center. The computerized database used in this analysis included fetuses, term infants, juveniles, and adults that underwent a necropsy procedure over a 14-year ...
Raga F - - 1997
This retrospective longitudinal study was undertaken in order to determine the incidence and reproductive impact of uterine malformations on women desiring to conceive during their reproductive years. A total of 3181 patients in whom the morphology of the uterus was ascertained by hysterosalpingography (HSG) and laparoscopy/laparotomy during the years 1980-1995 ...
Djupesland P - - 1997
Previous studies have shown that acoustic rhinometry (AR) is well suited to describe the nasal airway dimensions in healthy infants. The technique is quick to perform, non-invasive, without potential hazards and requires minimal cooperation. Due to the small dimensions of the infant nasal airways, the optimized miniprobe (Rhinometrics, Lynge, Denmark) ...
Lin D S - - 1997
Aside from congenital heart disease, anomalies associated with unilateral hypoplasia of the depressor anguli oris muscle have not been well-documented in large series. We evaluated the associated anomalies in 50 infants or children with this disorder (male:female = 2:1) and found accompanying anomalies in 35 (70%) of 50 cases. They ...
Milerad J - - 1997
OBJECTIVE: Infants with cleft lip and palate may often have other associated congenital defects although 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. METHODS: The prevalence of ...
Fischer P R - - 1997
Even in malaria-endemic areas, congenital malaria has been considered to be rare. Some recent reports suggest, however, that up to one fourth of newborns in some areas may be parasitemic. In an effort to determine current prevalence rates of congenital malaria, malaria smears were done on peripheral blood from 100 ...
Bateman D A - - 1997
OBJECTIVE: To determine the hospital cost of caring for newborn infants with congenital syphilis. STUDY POPULATION: All live-born singleton neonates with birth weight greater than 500 gm at an inner-city municipal hospital in New York City in 1989. METHODS: We compared the characteristics of 114 infants with case-compatible congenital syphilis ...
Jick S S - - 1997
Earlier studies indicated that the prevalence of congenital anomalies is greater in infants of epileptic mothers treated with anticonvulsants than in infants of mothers without epilepsy. We carried out a study of women in the General Practice Research Database who delivered liveborn infants between January 1988 and March 1993 and ...
Mestrović J - - 1997
An infant with congenital syphilis associated with transient disturbances of lipoprotein metabolism is reported. The dominant clinical sign was hepatosplenomegaly. Laboratory investigation upon admission revealed hyperimmunoglobulinemia and hyperchylomicronemia. After the administration of penicillin, the chylomicronemia ceased, but an increase of very low density lipoprotein fraction was observed. As the infant ...
Czeizel A E - - 1997
The Hungarian Congenital Abnormality Registry was established in 1962 based on obligatory notification of cases with congenital abnormalities by physicians. However, continuous and expert evaluation of data started in 1970 when the Registry was moved to the National Institute of Public Health. Later several other systems, including the Nationwide Evaluation ...
Schellingerhout R - - 1997
The haptic exploratory procedures that eight congenitally blind infants aged 8-24 months used to explore a gradient surface texture were investigated. Exploration of the gradient texture was examined over five sessions with 2 weeks between sessions, followed after 1 week by a sixth session, in which exploration of the gradient ...
Goldberg C J - - 1997
STUDY DESIGN: Prints of palmar dermatoglyphics (epidermal ridges) of individuals with congenital vertebral anomaly were compared, using symmetry criteria, with those of healthy control individuals. Asymmetries have been reported in adolescent idiopathic scoliosis and, from other centers, in other congenital anomalies, such as cleft lip and palate. Application of these ...
Bianchi F - - 1997
OBJECTIVES: To investigate the relations between congenital malformations and maternal occupation during pregnancy with a registry based case-control study. METHODS: Analysis was performed on data derived from the Florence Eurocat registry surveillance programme. The study included cases with isolated conditions, including chromosomal anomalies (n = 1351), cases with multiple anomalies ...
Tan S T - - 1997
Congenital auricular anomalies can be categorized as either malformed or deformational. Auricular deformations most commonly affect the helix and antehelix. Surgical correction involves sutural modeling, wedge excision, reshaping and reversing cartilage segments, and morselization. Since neonatal auricular cartilage is extremely pliable, we used early splinting to correct deformational ear anomalies. ...
Harris J - - 1997
OBJECTIVE: To present epidemiologic data on the relatively rare malformation choanal atresia, based on a large collection of material and with special stress on the significance of the so-called CHARGE (coloboma, heart defect, choanal atresia, retarded growth and development, genital anomaly, and ear defect with deafness) association. METHODS: Data from ...
Steininger H - - 1997
2 infants with chronic severe diarrhoea from birth and with lethal outcome have been studied. Small intestinal biopsies were examined by light and electron microscopy. Severe villous atrophy, complete loss of microvilli or rudimentary forms, intracytoplasmic vesicles, and microvillous inclusions are the characteristic features of the disease. The etiology is ...
Bonnet D - - 1997
Cono-truncal cardiac malformations account for some 50% of congenital heart defects in newborn infants. Recently, hemizygosity for chromosome 22q11.2 was reported in patients with the DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) and causally related disorders. We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 ...
Lazjuk G I - - 1997
A descriptive analysis of birth defects and malformations was performed to assess whether the rates of these defects correlate with the geographic areas of Belarus that received different levels of 137Cs contamination resulting from the Chernobyl catastrophe. Since this accident in 1986, the frequency of both congenital and fetal abnormalities ...
Mirza I - - 1997
A 6-year-old girl presented due to passage of stool through her vulva since birth. Examination revealed a fistulous tract between vestibule of the vagina and an otherwise normally formed anal canal. The tract was successfully excised through an anterior sagittal approach with a defunctioning sigmoid colostomy, which was closed 12 ...
Laurent A - - 1997
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disorder characterized by marked variability of its clinical manifestations. The mutational basis of DM is an unstable (CTG)n trinucleotide repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK). We used quantitative RT-PCR to determine DMPK mRNA levels ...
Nakamichi M - - 1997
The birth rate and mortality rate of infants with congenital malformations of the limbs were examined in the Awajishima free-ranging group of Japanese macaques (Macaca fuscata). Of the 606 infants born between 1978 and 1995, 86 (14.2%) were malformed. The male-female ratio did not differ between malformed and normal infants. ...
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