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September 1940


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Am J Dis Child. 1940;60(3):562-579. doi:10.1001/archpedi.1940.02000030094009

I. ETIOLOGY OF DYSOSTOSIS MULTIPLEX (PFAUNDLER-HURLER)  Dysostosis multiplex is a combination of an extraordinarily large number of signs which appear entirely unrelated. The theory to be evolved concerning the etiology of this disease may deserve a wider interest because it seems to be applicable to a considerable number of mysterious syndromes. Moreover, it may lead to a new conception of the etiology of single deformities. The application of this theory to dysostosis multiplex should, therefore, be considered as a test of usefulness.A full description of dysostosis multiplex and a review of the 23 cases known so far in the literature were published recently. The signs, which were classified in three groups, will therefore be mentioned here only briefly. The first group concerned the skeletal and soft parts of the head and consisted chiefly of a deformity of the skull (oxycephaly, scaphocephaly), hydrocephaly, low-set ears, cloudiness of

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