PEDIATRIC RADIOLOGY AND SYNDROMOLOGY

NEUHAUSER LECTURE, 1973

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 distressing to see legislation based on insufficient knowledge which resulted in sterilization and even death of handicapped persons.¹³ There has been progress and fortunately there has been recognition of our ignorance. However, there is still too much happiness about, and promotion of, genetic counseling which is often inadequate and not based on solid knowledge. I refer to the enthusiasm of newcomers who believe that etiologies of congenital malformations and syndromes are always clear-cut, easily identifiable and applicable to all cases with similar signs and symptoms. Experienced medical geneticists will agree with my caution, since they are fully aware of the gaps in our knowledge of the causes of congenital malformations.

My attitude is by no means pessimistic or nihilistic. Attention should be paid to all details that surround the origin of syndromes and prevention should become possible by recognition and elimination of causative factors. The senior members of this Society will remember diseases which have been wiped out because their causes were recognized and removed. Similar methods can be applied to prevention of multiple congenital malformations. In the meantime our guidelines should be collecting of facts and delay of conclusions. In medicine no disease problem is solved until the disorder disappears and becomes history.

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