AUTHOR=Sharma Deepak , Kumar Chetan , Bhalerao Sanjay , Pandita Aakash , Shastri Sweta , Sharma Pradeep 

TITLE=Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

JOURNAL=Frontiers in Pediatrics

VOLUME=3

YEAR=2015

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2015.00051

DOI=10.3389/fped.2015.00051

ISSN=2296-2360

ABSTRACT=<p>Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.</p>