Abstract

Syndromes of congenital malformations are interesting and challenging phenomena which deserve observation, description and treatment of the children and adults who are afflicted by these multiple birth defects. However, the highest level of syndrome research is etiologic research, because knowledge of the causes of multiple congenital malformations promises prevention. Although naming syndromes and classifications are important auxiliary activities, they must not be our final goal. The infinite number of combinations of congenital defects suggests that terminology and classification should be tentative and flexible and that rigidity be avoided. The same holds for statements of causation. I tried to make it clear that we are far from a full understanding of all the principles involved in the etiology of malformations. Many unexpected discoveries along these lines have been made during my lifetime and many of those who pretended to have the final answers were shown to be wrong. It was particularly distressi...

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