[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.
Lapetina
F
F
Divisione di Pediatria, USSL 50-52, Viadana (Mantova), Italia.
Piantoni
G
G
Canino
R
R
Teza
F
F
Ferrarini
D
D
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008844:Micrognathism / Q000150:complications*; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging
La sindrome di Cohen. Contributo alla sua delineazione clinica.