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At least 19 recordsLinked to original sources
PubMed1978

Congenital central nervous system malformations and vinyl chloride monomer exposure: a community study.

Incidence rates for central nervous system (CNS) malformations in infants born to residents of Kanawha County, West Virginia, 1970-1974, were significantly higher than comparable United States rates during those years. Since Kanawha County contains a polyvinyl chloride (PVC) polymerization plant, a case-control study was conducted on the possible relationship between the occurrence of CNS defects and parental occupational or residential exposure to vinyl chloride monomer emissions from this plant. No relationship with parental occupation was found. While a tendency was noted for residences of case families to be located in an area northeast of the plant, this observation did not entirely correlate with existing data on local patterns of wind direction and air pollution.

Abnormalities, Drug-Induced↗
PubMed1976

Major central nervous system malformations notified in Northern Ireland, 1969 to 1973.

In Northern Ireland, during the years 1969 to 1973, there were 485 notifications of anencephalus, 525 of spina bifida and 328 of hydrocephalus in a population of 157,725 (live and still) births. The data were based on the voluntary notification system for congenital malformations which has been operating in Northern Ireland and in England and Wales sine 1964. The malformation rates per 1000 (live and still) births were 3-1 for anencephalus, 3-3 for spina bifida and 2-1 for hydrocephalus. Secular trends in these data indicate a decrease in the incidence of all three major central nervous system malformations, but this is significant only in relation to anencephalus. Spina bifida was more common in female births than in male births, and 79 per cent of affected infants were liveborn. Indirect evidence suggests that some 40 per cent of the total number of live and stillborn infants having spina bifida at birth will survive to one year of age.

Anencephaly↗
PubMed1979

Comparison of central nervous system malformations in spontaneous absortions in Northern Ireland and south-east England.

A study of 1140 pregnancies ending in spontaneous abortion disclosed a central nervous system (CNS) malformation in 4.9% of all complete conceptuses. Life-table analysis suggested that the incidence of CNS malformations is 16/1000 at the beginning of the eighth week of gestation. It was also estimated that only one-fifth of these infants are born alive, 41% being aborted spontaneously and 38% stillborn. A hypothesis that differences in the incidence of CNS malformations result from area differences in the mortality rate of malformed embryos and fetuses was examined by comparing the findings in Northern Ireland, an area of high incidence, with those in south-east England, an area of low incidence. In Northern Ireland 4.6% of complete conceptuses had a CNS malformation compared with 3.0% in south-east England, but the difference was not statistically significant. There is no evidence that in Northern Ireland a lower mortality rate among malformed fetuses and embryos is responsible for the high incidence of malformation at birth. The geographical variation of CNS malformations in the United Kingdom still awaits explanation.

Abortion, Spontaneous↗
PubMed1978

Cellular content of amniotic fluid as predictor of central nervous system malformations.

Prospective observations on 442 consecutive samples have confirmed that pregnancies with CNS malformations are regularly associated with an abnormal cellular content of amniotic fluid. A crude semiquantitative test of the cell content can give valuable clinical information in relation to borderline amniotic fluid alpha-fetoprotein values, and help to detect false positive AFP's.

Amniocentesis↗
PubMed1979

Current concepts of the etiology of central nervous system malformations.

We have seen that what must be applied to dysmorphology is the doctrine of multifactorial causality, ie dysmorphogenetic events have both genetic and nongenetic etiologic components to varying degrees. Complicating matters is the extent to which there is etiologic and/or mechanistic heterogeneity (Fig. 1). This is nicely illustrated by the holoprosencephaly anomaly. In addition, there are numerous CNS malformations that have major single gene, chromosomal, or environmental initiating agents of malformation mechanisms. Still a mystery is the common neural tube malformations. It is now clear that the "multifactorial/threshold" model is an inadequate explanation of the observed data and until the etiologic heterogeneity of these malformations is clearly defined, our knowledge remains primarily empiric. A potential area of fruitful investigation is likely to be the identification of maternal genotypes which do not allow detoxification of potential environmental teratogens.

Central Nervous System↗
PubMed1977

Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia is described in four generations of a kinship. The family is unique in that three generations manifest central nervous system vascular disease, which was pathologically confirmed in two generations. Genetic linkage was not identified for 32 genetic markers studied. The literature is reviewed for patients with central nervous system arteriovenous malformations and hereditary hemorrhagic telangiectasia. The pathogenesis of the disease is discussed, and therapeutic modalities are considered.

Adult↗
PubMed1978

Hypervitaminosis a in early human pregnancy and malformations of the central nervous system.

A case of malformations of the fetal central nervous system following hypervitaminosis A in early pregnancy is reported. The mother was treated with 150 000 IU vitamin A daily during gestation days 19 to 40. Determination of urinary oestriol carried out in the 42nd week of pregnancy revealed a very low excretion (4.2-6.6) mumol/24 h). Induced delivery resulted in a microcephalic child who died after 18 min. The child had multiple malformations of the central nervous system and very small adrenal glands (1.5 g; normal 11 +/- 4 g). The very low urinary oestriol excretion is well explained by the hypoplastic adrenals, which in turn can be related to insufficient ACTH stimulation, a condition similar to anencephaly. The malformations shown in the present case are considered to be related to the high doses of vitamin A given to the mother, and the authors wish to warn against uncritical use of high doses of vitamin A in whomen of childbearing age.

Abnormalities, Multiple↗