title: [Cohen syndrome. Contribution to its clinical delineation].
abstract: 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.
authors.affiliation: Divisione di Pediatria, USSL 50-52, Viadana (Mantova), Italia.
authors.forename: F
authors.initials: F
authors.lastname: Lapetina
authors.forename: G
authors.initials: G
authors.lastname: Piantoni
authors.forename: R
authors.initials: R
authors.lastname: Canino
authors.forename: F
authors.initials: F
authors.lastname: Teza
authors.forename: D
authors.initials: D
authors.lastname: Ferrarini
mesh_terms: 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
vernacular_title: La sindrome di Cohen. Contributo alla sua delineazione clinica.