Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature

Abstract

A large family with dyskeratosis congenita is reported. There were nine affected males, the findings in five of whom are reported. We review 46 cases selected from the literature. The cardinal findings of this inherited multisystem disorder are delineated from these 51 cases. The complications of the disease, including opportunistic infection, are described. The parallel is made between dyskeratosis congenita and Fanconi's anaemia. The X linked transmission of dyskeratosis congenita is confirmed by the family pedigree in this report. From the analysis of the families reported in the literature, there appears to be genetic heterogeneity in this disease. The study in our family indicates absence of close linkage between the Xg(a) locus and the X linked recessive form of dyskeratosis congenita.