A neuroectodermal syndrome of dominant inheritance

Abstract

Ten members of a family consisting of 68 individuals spread over five generations were affected in some measure with a characteristic syndrome, which involved the nervous, ectodermal, skeletal, and glandular systems. The familial condition described showed certain resemblances to the syndromes of Werner, Refsum and Cockayne. Distinct differences, however, also were found. The nature of inheritance in the family described was discussed in terms of its being due to a dominant gene. This was in contrast with the recessive inheritance in the other neuroectodermal syndromes considered. In spite of the differences between our family and the other syndromes reported, our study has suggested the possibility of a spectrum of neuroectodermal disorders, which may include the three syndromes mentioned and possibly others, as well as the syndrome described in the present report. The incidence in the family of adeno-hypophyseal insufficiency was described and a possible mechanism for this was suggested. A possible etiologic mechanism was suggested in terms of a genetically determined enzymic defect.