title: Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.
abstract: 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.
authors.affiliation: Department of Neonatology, Fernandez Hospital , Hyderabad , India.
authors.forename: Deepak
authors.initials: D
authors.lastname: Sharma
authors.affiliation: Department of Pediatrics, Madras Institute of Orthopaedics and Traumatology , Chennai , India.
authors.forename: Chetan
authors.initials: C
authors.lastname: Kumar
authors.affiliation: Department of Pediatrics, Madras Institute of Orthopaedics and Traumatology , Chennai , India.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Bhalerao
authors.affiliation: Department of Neonatology, Fernandez Hospital , Hyderabad , India.
authors.forename: Aakash
authors.initials: A
authors.lastname: Pandita
authors.affiliation: ACPM Medical College , Dhule , India.
authors.forename: Sweta
authors.initials: S
authors.lastname: Shastri
authors.affiliation: Rabindranath Tagore Medical College , Udaipur , India.
authors.forename: Pradeep
authors.initials: P
authors.lastname: Sharma
keywords: R280C mutation; TP63 gene; Tetralogy of Fallot; cleft hand or lobster claw hand/foot; ectrodactyly ectodermal dysplasia–cleft