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Cardiac involvement in the Cohen syndrome: A case report
Author(s) -
Sack J.,
Friedman E.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00156.x
Subject(s) - craniofacial , medicine , genetic disorder , pediatrics , cardiology , psychiatry , disease
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.