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Published online by Cambridge University Press: 01 August 2014
The Authors report the eugenic prediction formulated for a couple whose three babies (two of whom were monozygotic twins) had died as a consequence of the syndrome of Werdnig-Hoffmann. Since the two cases of the MZ twin pair represent a single chance combination at conception, and since the indications from the literature and from the family tree in this case indicate a monomeric genotype of a recessive type, the morbid risk for a fourth affected child has been estimated at 25%.
The occurrence of concordant W. H. syndrome in MZ cotwins is stressed.
No chromosome abnormalities have been revealed by karyotype examination of the parents.