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 in 1984-1989. We describe the craniofacial abnormalities present, their frequency, and their cooccurrence, and we examine the correspondence between the severity of craniofacial abnormalities, chromosomal abnormalities, and severity of the brain defect. Liveborn cases totaled 78, yielding a prevalence of 4.8 per 100,000 live births. Prevalence among girls was nearly double that in boys, and was 4.2 times higher among infants of mothers under age 18 compared to infants of older mothers. Only 9.8% of all cases had no craniofacial abnormalities other than the brain defect. Eye malformations were present in 76.8%, nose malformations in 69.5%, ear malformations in 50%, and oral clefts in 41.5%. These malformations arise at different times during gestation. The variability in patterns of cooccurrence suggests variability in the developmental pathways and/or timing of developmental derangements which result in holoprosencephaly. This, in turn, is consistent with a model of multiple causes. Children with alobar holoprosencephaly tended to have the most severe craniofacial anomalies, but the correspondence was not 100%. Craniofacial phenotype does not consistently discriminate between cytogenetically normal and abnormal cases.

A medical surveillance program has been established for 482 persons who were potentially exposed to polychlorinated biphenyls (PCBs), dibenzo-p-dioxins, and dibenzofurans from an electrical transformer fire in a Binghamton, NY office building in 1981. Vital Record and Cancer Registry data, medical records, and mail questionnaires were used to assess mortality, symptomatology, cancer incidence, and reproductive events through 1984. The numbers of deaths, cancers, fetal deaths, and infants with low birth weight or congenital malformations were similar to those expected on the basis of age- and sex-specific rates for upstate New York and other comparison populations. Two suicides were observed compared with 0.31 expected, but the difference was not statistically significant. After adjustment for possible confounders, persons with the greatest degree of potential exposure were significantly more likely than those with less exposure to report unexplained weight loss (relative risk [RR] = 12.80), muscle pain (RR = 5.07), frequent coughing (RR = 4.14), skin color changes (RR = 3.49), and nervousness or sleep problems (RR = 3.19). The possibility of recall bias and the intervening effects of stress, however, weaken the conclusion that toxic chemicals caused the symptomatology. Exposure-related systemic disorders, e.g., chloracne or peripheral neuropathy, were not diagnosed by personal physicians; however, some persons refused to release their medical records because of ongoing litigation. The findings are consistent with those of our earlier assessment.

A medical surveillance program has been established for 482 persons who were potentially exposed to polychlorinated biphenyls (PCBs), dibenzo-p-dioxins, and dibenzofurans from an electrical transformer fire in a Binghamton, NY office building in 1981. Blood samples were analyzed for serum concentrations of PCBs and for biochemical and hematologic parameters at the time of the fire and 9 to 12 mo later. Firefighters and individuals who were in the building for 25 hr or more were also asked about post-fire symptomatology and examined after 1 yr for disorders of the skin, eyes, liver, and neurologic system. The results indicated that reported exposure was positively related to mean serum PCB levels (p = .004). The means and individual values, however, were within the range reported by other studies of persons with no unusual exposures. Significant correlations were observed between serum PCB concentrations and levels of liver enzymes and lipids, but mean levels of these biochemical parameters were not associated with reported exposure after adjustment for relevant covariables. Approximately one-half of those examined had skin lesions, but no cases of chloracne were detected, and there was no clinical evidence of any other exposure-related systemic disorder. The data suggest that exposure to contaminants from the building did not result in substantial absorption or cause any major short-term health effects.

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