Ectrodactyly-Ectodermal Dysplasia – Cleft Syndrome (EEC)

nbspMuralidhar L Kulkarni; Sidramayya SS; Vivekanand VV nbsp

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RGUHS Nat. J. Pub. Heal. Sci Vol: 14 Issue: 4 eISSN: pISSN

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Case Report

Ectrodactyly-Ectodermal Dysplasia – Cleft Syndrome (EEC)

Muralidhar L Kulkarni ¹, Sidramayya S.S² , Vivekanand V.V²

¹Professor and Head , ²Resident

Department of Pediatrics, JJM Medical College, Davangere

Year: 2012, Volume: 2, Issue: 1, Page no. 53-55,

Views: 941, Downloads: 4

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0.

Abstract

The Ectrodactyly- Ectodermal dysplasia-Cleft syndrome (EEC) is an autosomal dominant disorder with cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. It has been linked to chromosome 3q27 and heterozygous p63 mutations (1).

We report a case of EEC syndrome in an 8-month female infant who presented with these features

Keywords

EEC syndrome, Autosomal dominant

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