Open AccessCardiofaciocutaneous syndrome
Author(s) -
Ranjan Modi,
Pournima Patil,
VeerappaA Kothiwale,
Mahesh Kamate
Publication year - 2014
Publication title -
journal of the scientific society
Language(s) - English
Resource type - Journals
eISSN - 2278-7127
pISSN - 0974-5009
DOI - 10.4103/0974-5009.141231
Subject(s) - medicine , septum secundum , pediatrics , malignancy , family history , desquamation , dermatology , surgery , pathology
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