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Year : 2014  |  Volume : 41  |  Issue : 3  |  Page : 195-196

Cardiofaciocutaneous syndrome

Department of Internal Medicine, KLE Dr. Prabhakar Kore Hospital, Belgaum, Karnataka, India

Correspondence Address:
Ranjan Modi
Department of Internal Medicine, KLE Dr. Prabhakar Kore Hospital, Belgaum, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0974-5009.141231

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Cardiofaciocutaneous syndrome is a rare dysmorphic syndrome. There are over 100 individuals reported in the literature. It is estimated that there are perhaps 200-300 individuals world-wide. The diagnosis can be suspected by constellation of cutaneous, cardiac and facial features. Recognition of this syndrome is important in view of the future risk of malignancy and for genetic counseling. Hereby we report a case of 30-year-old female who presented with history of desquamation of skin since birth and history of a congenital heart disease detected during the first pregnancy. Intelligence quotient assessment revealed mild mental retardation two-dimensional echo revealed septum secundum atrial septal defect. The diagnosis was made by the presence of the cardiac, cutaneous and neurological condition.

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