Ataxia-telangiectasia presenting with craniostenosis.

Ataxia-telangiectasia is a familial syndrome which gradually unfolds during early childhood. It is characterized by progressive cerebellar ataxia, symmetrical telangiectasia, frequent respiratory infections, delayed physical but normal mental development and quite often a dry skin with cafe-au-lait spots. The first published case by Louis-Bar (1941) was followed by fuller and welldocumented reports by Boder and Sedgwick (1957, 1958), Centerwall and Miller (1958) and Ford (1960), and leave no doubt that this is a clinical entity of which more than 80 cases are now known (E. Boder, personal communication, 1962). A further case history of this condition is reported, which presented in an unusual way and in which investigations not previously reported have been carried out.