Etiologic Heterogeneity of Neural-Tube Defects
- 12 February 1976
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 294 (7), 365-369
- https://doi.org/10.1056/nejm197602122940704
Abstract
We classified 106 stillborn and live-born infants with anencephaly, meningomyelocele, meningocele and encephalocele according to the recognized causes of these malformations. Six different causes were identified, including both genetic and nongenetic disorders; 12 per cent had nongenetic disorders, a chromosome abnormality, or an encephalocele as part of the autosomal recessive Meckel syndrome. Therefore, for this 12 per cent genetic counseling normally provided for isolated anencephaly, meningomyelocele or encephalocele would have been incorrect.Keywords
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