[Cohen syndrome. Contribution to its clinical delineation]

The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases. The reported case is of particular interest: the distal limbs anomalies are peculiar with marked shortening of metacarpals and metatarsals. A review of the other cases is also reported and discussed in order to stress the most frequent manifestations of the syndrome and delineate the major clinical characteristics.