Fryns J P, Van den Berghe H
J Genet Hum. 1981 Dec;29(4):449-53.
A 9.5-year old severely mentally retarded boy is reported with the typical features of the Cohen syndrome. It is emphasized that this syndrome be differentiated from other constitutional syndromes featuring mental retardation, obesity short stature and hypotonia, because of a different genetic prognosis. Compared to the Prader-Labhart-Willi syndrome the craniofacial appearance of this autosomal recessively inherited malformation syndrome is characterised by antimongoloid position of the eyes, dental anomalies with prominent upper incisors and malocclusion, and high-arched palate. Ocular anomalies mostly include pigmentary retinal anomalies. Whereas hypotonia is severe from the beginning, obesity becomes only striking after the age of 5 years.
本文报道了一名9.5岁的重度智力发育迟缓男孩，其具有科恩综合征的典型特征。需要强调的是，由于遗传预后不同，该综合征应与其他伴有智力发育迟缓、肥胖、身材矮小和肌张力减退的先天性综合征相鉴别。与普拉德-威利综合征相比，这种常染色体隐性遗传的畸形综合征的颅面部外观特征为眼睛呈反蒙古人种位置、牙齿异常（上门牙突出和错牙合）以及高腭弓。眼部异常大多包括色素性视网膜异常。肌张力减退从一开始就很严重，而肥胖在5岁以后才变得明显。
