Cardiac involvement in the Cohen syndrome: a case report

Clin Genet. 1980 May;17(5):317-9. doi: 10.1111/j.1399-0004.1980.tb00156.x.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Facial Bones / abnormalities
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Jews
  • Leg / abnormalities
  • Mitral Valve Prolapse / complications*
  • Obesity / genetics*
  • Syndrome