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 ...

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 ...

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 ...

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 ...

OBJECTIVE: To define the epidemiology, to determine factors associated with transmission, and to describe the clinical and laboratory features of congenital syphilis. DESIGN: Retrospective chart review and prospective analysis. SETTING: Kings County Hospital Center, Brooklyn, NY. PATIENTS: A total of 403 pregnancies during a 23-month period associated with positive syphilis ...

Most infants at risk for congenital syphilis can be identified easily by a positive maternal serologic test for syphilis. However, a diagnosis of congenital syphilis can be difficult to make in an individual infant. Seven infants with delayed-onset congenital syphilis and 101 newborns at risk for congenital syphilis were evaluated ...

A total of 303 infants with esophageal atresia and/or tracheoesophageal fistula were treated over 10 years (1980-1989). The overall survival rate was 86.5%. Associated anomalies were identified in 51.8% of patients, the most common being cardiac malformations which affected 24.4% of infants and was responsible for the majority of deaths. ...

We studied the yearly occurrence of isolated cardiovascular malformations in liveborns for the period 1981-1988 in Maryland and the District of Columbia. We used Poisson regression to fit yearly prevalence at birth as a function of time for all cardiovascular malformation case types combined and for three diagnostic subgroups. We ...

To determine the incidence of silent renal anomalies in infants with isolated single umbilical artery (SUA), all infants with SUA and without other obvious congenital anomalies, identified over a six year period, were screened using renal ultrasonography. Over 35,000 placentas were examined. An isolated single umbilical artery was identified in ...

This is an exploratory study on birth defects in municipalities through which overhead high voltage power lines (HVPL) pass. It was aimed to test the association between maternal residencial proximity to HVPL and congenital anomalies through a case-control study based on data from the Central-East France Registry of Congenital Malformations. ...

Studies of the association between the Chernobyl accident in April 1986 and reproductive outcome, with particular reference to congenital anomalies, are reviewed. All of the studies so far have been based on the detection of a change in frequency over time. An increased frequency of trisomy 21 in the former ...

We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic ...

Genital prolapse in the female infant during the neonatal period is relatively rare and is usually associated with anomalies of the central nervous system. A case of vaginal prolapse in a small-for-gestational-age preterm female infant, without any associated nervous system anomalies, is presented. The clinical presentation, diagnostic approach, management, and ...

Cutaneous hemangiomas are common benign tumors of infancy that only rarely are associated with malformations in other tissues or organs. We report nine infants with large facial hemangiomas who also had Dandy-Walker malformations or similar posterior fossa abnormalities. On the basis of the experience with our patients and with those ...

Between 1985 and 1991, increases in early (infectious) syphilis occurred among Wisconsin residents (1.8 to 18.4 cases per 100,000 persons). Males represented 54% and females 46% of early syphilis cases. Increases in early syphilis morbidity occurred among both white residents (0.9 to 1.5 cases per 100,000 persons) and black residents ...

During the 4-year period February 1989 to January 1993, 13 premature babies aged 1-21 days and with congenital syphilis were admitted to the National Cheng Kung University Hospital. Of the 13 premature infants, 8 (62%) had unusual desquamation over palms and soles. Bone changes with periosteal reaction and/or metaphyseal dystrophy ...

Necropsy findings in a male stillborn at 31 weeks gestational age included nonimmune hydrops, hydramnios, and microcephaly secondary to a hemangioendotheliomatous malformation at the tentorium. The vascular lesion was composed by large and small tortuous endothelium-lined vessels and leiomuscular septa. The lesion is thought to be related to the more ...

Birth prevalence of congenital malformations ranges between 2 and 6%, depending on the population. Congenital malformations significantly contribute to the causes of early and late infant mortality as well as to the development of severe handicaps. These facts make congenital malformations a serious medical and social problem. In many cases, ...

The Dandy-Walker variant is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation. In 17 consecutive fetuses, the Dandy-Walker variant was diagnosed at sonography, and associated defects, karyotypic anomalies, and outcomes were evaluated. Four of the 17 fetuses (24%) had mild ventriculomegaly. Eight of the 17 (47%) had ...

Leptomeningeal glioneuronal heterotopia was observed in 40 of 129 autopsied infants (31%). It was present in 49% of patients who had congenital anomalies in general and in 65% of patients who had central nervous system malformations. Most of the leptomeningeal glioneuronal heterotopias appeared in the base of the brain (62.5%), ...

Hutchinson's incisors and Moon's molars are specific lesions of congenital syphilis. The extensive but fragmentary clinical literature on these conditions describes reduced dimensions and thin enamel in the permanent incisors and first molars, crowding and infolding of the first molar cusps, notching of the upper incisors, and apical hypoplasias of ...

OBJECTIVES: To characterize the neonatal IgG and IgM response to specific Treponema pallidum antigens in the cerebrospinal fluid (CSF) of infants with congenital syphilis. DESIGN: Cross-sectional survey. SETTING: Newborn nursery and neonatal intensive care unit of a county hospital in Dallas, Tex. PARTICIPANTS: Twenty-one infants born to mothers with reactive ...

Registry data on all infants born in Sweden between 1983 and 1986 are reviewed to describe perinatal mortality and malformation rate of infants with single umbilical artery (SUA). Since SUA is much more common in infants with chromosomal anomalies and in twins this analysis is confined to the 1694 singletons ...

The incidence of congenital syphilis in Florida increased sixfold from 1985 through 1989, and more than 80% of the cases occurred in metropolitan areas of southern Florida. To characterize the population of pregnant women in Florida at high risk of delivering an infant with congenital syphilis, the authors conducted a ...

The Israeli national neonatal screening program for congenital hypothyroidism (CH) was initiated in May 1978. The overall incidence of persistent primary congenital hypothyroidism (PPCH) during the first 10 years of screening was 1:2,950 live births. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) ...

Congenital tracheal stenosis (CTS) in the premature infant almost invariably leads to death for lack of effective reconstructive techniques. We hypothesized that the complete or near complete cartilaginous rings of CTS have a weak point in the posterior portion. Aggressive balloon dilation would result in a posterior longitudinal disruption of ...

OBJECTIVE: To determine the performance of the FTA-ABS (IgM) test in congenital syphilis after eliminating interference by IgM rheumatoid factor (RF) and preventing competitive inhibition by IgG. DESIGN: The FTA-ABS (IgM) test was carried out before and after RF removal (achieved by immunoprecipitation of the IgG) in infants with congenital ...

Over a period of two years, 32,332 live-born infants were screened for the presence of identifiable congenital malformations. Congenital anomalies were present in 2.38% of all infants; major and minor malformations were present in 79% and 21% of the cases, respectively. Anomalies in general and chromosomal anomalies in particular were ...

A new case of prenatally detected mosaic trisomy 20 (79% trisomy 20 cells in amniocyte cultures) that was confirmed in newborn tissue is presented. A healthy male infant was delivered at term, with no dysmorphology or apparent malformations; this baby is developing normally. Twenty-five percent of foreskin and 17% of ...

In a review of 44 infants with multicystic renal dysplasia diagnosed prenatally by ultrasonography, contralateral anomalies, bilateral disease and other non-urinary congenital anomalies were rare. In approximately two-thirds of infants the lesion was impalpable and in 2 cases involution had occurred prenatally. All but 5 were managed conservatively and without ...

Data on outcome of pregnancy were obtained in 436 (94%) of 463 patients undergoing chorionic villus sampling (CVS) at Humana Hospital-Michael Reese between January 1, 1989 and November 30, 1990. There were 18 elective abortions, 27 fetal and neonatal losses, and 391 surviving infants. Of the 394 fetuses and infants ...

Maternal residence at time of delivery is sometimes used as a proxy for residence during early pregnancy to estimate environmental exposures. Residential addresses during time of conception through the first trimester were obtained from mothers of 152 infants with congenital cardiac anomalies and 175 controls, and they were compared with ...

We conducted a prospective study of teratogenic effects of antiepileptic drugs (AEDs) in pregnant women with epilepsy in southeast France, comparing malformation rates with those collected by a birth defects registry. We evaluated isolated microcephalies separately. Malformations were seen in 7% of infants of mothers with epilepsy (IME) and in ...

We analyzed the influence of changes in the prescribing of antiepileptic drugs to pregnant women on frequency and pattern of malformations in their offspring by comparing two consecutive cohorts (1972 to 1979, cohort A; 1980 to 1985, cohort B). In cohort A, 15 (10%) of 151 exposed, live-born infants had ...

In a retrospective study of 84 Ghanaian infants with hypertrophic pyloric stenosis seen over a 15-year period between 1974 and 1988, the male/female incidence ratio was 9:1. First-born infants constituted 23.8% of the patient population. The incidence of associated congenital anomalies and jaundice were 10.7% and 3.6% respectively. About 33.3% ...

We are conducting a prospective cohort study of epilepsy and pregnancy to determine the nature and extent of adverse pregnancy outcomes in infants of mothers with epilepsy (IME). Women with epilepsy were enrolled no later than the first trimester and were matched with controls; their infants were examined at 8 ...

This paper deals with malformations detected in 26 of 315 newborns of 305 epileptic mothers followed prospectively. In 3 more cases, malformations were detected in utero and therapeutic abortion was performed. Two hundred and seven women were on monotherapy, 102 on polytherapy and 9 were not treated. In total, malformations ...

The diagnosis of congenital syphilis in the newborn or young infant must incorporate epidemiologic, clinical, and serologic evidence of infection. Anti-treponemal IgM assays such as the 19S-IgM-FTA-ABS, which can be performed at the CDC at the request of state health departments, and the IgM ELISA being developed by Ortho Diagnostics ...

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract ...

We treated 4 infants with ankyloblepharon filiforme adnatum (AFA), an uncommon anomaly in which the apposing eyelid margins are connected by abnormal tissue strands. One infant had AFA alone, one had Hay-Wells syndrome, characterized by ectodermal dysplasia, and the other 2 had chromosome abnormalities, trisomy 18, and complex chromosome rearrangement, ...

A clinical update is presented regarding the epidemiology, diagnosis, and management of maternal and congenital syphilis. Syphilis is reemerging as an endemic disease among minority heterosexual populations of the United States; the widespread use of crack cocaine has been identified as a major contributing factor. The dramatic nationwide increase of ...

Plagiocephaly is a term commonly used to describe congenital forehead asymmetry. Sixty patients with frontal plagiocephaly were evaluated retrospectively and separated into three types: synostotic (N = 24), compensational (N = 3), and deformational (N = 33). Categorization of frontal plagiocephaly as synostotic or deformational was reliably made by physical ...

We report an autopsy case of 4-day-old male infant with arthrogryposis multiplex congenita studied by histological methods in respect to the ocular tissues. The eye examined was normal in size, and the retina, optic nerve, choroid, sclera and extracocular muscle showed no remarkable histological changes. However, the cornea was thickened, ...

Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. ...

Extensive upper aerodigestive tract anomalies are rare in newborns. When they occur, they are often accompanied by other congenital malformations. We present a case of a newborn who presented to the Montreal (Quebec) Children's Hospital with severe tracheoesophageal abnormalities, as part of vertebral, anal, cardiac, tracheal, esophageal, renal, and limb ...

A rare case of congenital orbital teratoma that developed concurrently with the clinical findings of metopic sutural synostosis in an infant is presented. A cause-and-effect and/or embryologic relationship between these two cephalic malformations is possible, although coincidental occurrence is equally probable. The proximity of these congenital anomalies permitted complete resolution ...

A prospective survey for congenital malformations at birth, at a teaching hospital, over a period of two and half years on 9405 consecutive single births has shown that prevalence of major congenital malformations in live births was 1.6 per cent and in still births 16.4 per cent. There was no ...

Intra-uterine growth retardation (IUGR) is an important cause of perinatal death. The maternal chain seems to influence the birth weight and IUGR is also significantly associated with the presence of congenital malformation. To evaluate this association, a study was performed in all cases of IUGR collected over a period of ...

Metaphyseal abnormalities are present in greater than 90% of infants with symptomatic congenital syphilis. The incidence of these lesions in asymptomatic newborns in the present epidemic is not known. To determine the incidence of bone lesions at birth in asymptomatic congenital syphilis, long-bone films were obtained for all babies born ...

A five-year evaluation of congenital malformation among newborn infants born at Gunung Wenang Hospital has been evaluated in an attempt to get the picture of the congenital malformation spectrum and the magnitude of its problems in Manado, Indonesia. The total incidence of congenital malformation in this study was 0.9%, of ...