Cardiac involvement in the Cohen syndrome: a case report.
The Cohen Syndrome is a rare genetic disorder consisting of obesity, mental retardation, limb abnormalities and characteristic craniofacial appearance. Of the seven previously reported patients, none had any cardio-vascular involvement. This report describes an affected Jewish female, who, in addition to the usual malformations, has a floppy mitral valve.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007585:Jews; D007866:Leg / Q000002:abnormalities; D008945:Mitral Valve Prolapse / Q000150:complications*; D009765:Obesity / Q000235:genetics*; D013577:Syndrome