A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome.

Since its original description (2), many new cases of Cohen syndrome have been reported, most of them showing a quite variable expressivity. Autosomal recessive inheritance is widely accepted (MIM : 216550) (11), however, multiple instances of sporadic cases are observed. From a literature review (52 cases), we could determinate, in order of frequency, the most important clinical traits of the Cohen syndrome. We report here a father and two sons with dysmorphic features resembling Cohen syndrome and transmitting by an autosomal dominant mode.