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Anencephaly, spina bifida and hydrocephaly

A contribution to our knowledge of the causal genesis of congenital malformations

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Summary

After the discussion of a number of publications concerning congenital deformities mention is made of two groups of families containing children with anencephaly, spina bifida, encephalocele and other deformities involving an abnormal development of the central nervous system and the surrounding supporting tissue; one group has been collected in accordance with the period of birth, the other with the birth-place; together the groups comprise 181 families.

This investigation led to the following conclusions:

  1. 1)

    there is a strong indication for the assumption of a hereditary disposition as a causal-genetic moment in the origin of the deformities; this factor has a recessive character.

  2. 2)

    there has been no sign of a possible influence of exogenous moments; however, the investigation in this respect was incomplete; though the arguments for monomere recessive heredity are very conclusive, the study of exogenous moments in order to complete the investigation would be very desirable.

  3. 3)

    it is supposed that the result of an investigation as mentioned in 2 with respect to congenital malformations might be that exogenous moments could exercise influence in case of certain deformities, but not of the serious ones as described in this treatise.

  4. 4)

    on the ground of this investigation it may be supposed that inter-marriages promote the origin of the deformities mentioned.

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Polman, A. Anencephaly, spina bifida and hydrocephaly. Genetica 25, 29–78 (1951). https://doi.org/10.1007/BF01784826

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