The clinical features of the Cohen syndrome: further case reports.
We report the clinical features of six patients with the Cohen syndrome. The characteristic features include mental retardation, truncal obesity, prominent incisors, and tapering digits. Pelviureteric obstruction and epilepsy are reported as possible new features of this syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009765:Obesity / Q000235:genetics; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics