Frontiers in Pediatrics (Jun 2015)

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome) with Tetralogy of Fallot: a very rare combination

  • Deepak eSharma,
  • Chetan eKumar,
  • Sanjay eBhalerao,
  • Aakash ePandita,
  • Sweta eShastri,
  • Pradeep eSharma

DOI
https://doi.org/10.3389/fped.2015.00051
Journal volume & issue
Vol. 3

Abstract

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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births. It is known with various names which includes 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.

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