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Spastic Quadriplegia Combined with Congenital Ichthyosiform Erythroderma and Oligophrenia

JOHANNA BLUMEL, Ph.D.; MARGARET WATKINS, M.D.; G. W. N. EGGERS, M.D.
AMA Am J Dis Child. 1958;96(6):724-726. doi:10.1001/archpedi.1958.02060060726013.
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This report deals with the new syndrome oligophrenia combined with congenital ichthyosiform erythroderma and spastic disorders, first described by Sjögren1 in 1956. In 1957 Sjögren and Larsson2 reported on 28 cases of this condition, and, according to these authors, to their knowledge, there is no known instance of this syndrome having been reported in the literature. Söderhjelm and Enell3 have also published an account of some of these cases. These authors concluded that the disease has a genetic causation and demonstrates the autosomal recessive type of inheritance.

In the course of an investigation into genetic factors pertaining to the etiology of palsy being conducted at The Moody State School for Cerebral Palsied Children a case exhibiting this syndrome was encountered. The apparent rarity of this condition and the localization to Sweden of the affected persons reported so far prompted us to investigate and report this case.

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