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Difficulties of Classification and Terminology of Syndromes of Multiple Congenital Anomalies

JOSEF WARKANY, MD
Am J Dis Child. 1974;128(3):424-425. doi:10.1001/archpedi.1974.02110280154030.
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Sir.—The correspondence between Drs. Matsoukas and Rubinstein points out the difficulties of classification and terminology of syndromes of multiple congenital anomalies and malformations. Michail et al described their patient in a French orthopedic journal, whereas Rubinstein and Taybi published in an American pediatric journal. Although both groups emphasized malformations of the thumb in the title of their articles, it took ten years to establish the surprising resemblance of the cases recorded. It should be added that the syndrome has quite a spectrum of signs and symptoms and that, in spite of considerable interest in the subject, etiologic factors are still obscure.

What can we learn from this polite and justifiable correspondence? Both groups were cautious in their claim that they were dealing with an unknown disease picture, stating (1) that they "had not found descriptions of similar cases in the international literature,"1 and (2) that "the patients were thought

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