Two familial and 2 sporadic cases of Emery-Dreifuss syndrome are reported. One 
family presented a rare autosomal dominant variant of Emery-Dreifuss muscular 
dystrophy, another with X-linked recessive inheritance showed unusual 
intrafamilial variability. One of sporadic cases closely resembled rigid spine 
syndrome, the other was clinically intermediate between Emery-Dreifuss muscular 
dystrophy and rigid spine syndrome, showing that they are not distinct 
disorders.