Lapetina F, Piantoni G, Canino R, Teza F, Ferrarini D
Divisione di Pediatria, USSL 50-52, Viadana (Mantova), Italia.
Pediatr Med Chir. 1988 Mar-Apr;10(2):217-21.
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.
典型的颅面部外观，鼻梁突出、人中短、上颌中切牙突出、小颌畸形、儿童中期起病的躯干肥胖、肌张力减退、智力缺陷、肢体异常，以及先前报道病例中存在的其他临床表型。该报道病例特别引人关注：远端肢体异常独特，掌骨和跖骨明显缩短。还报告并讨论了对其他病例的回顾，以强调该综合征最常见的表现并描述其主要临床特征。
