A Case of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

Choi,  Sun Hee; Sung,  Ju Hee; Jung,  Sa Jun; Bae,  Chong Woo

Case Report

Journal of the Korean Society of Neonatology 2002;9(2):215-219.
Published online November 1, 2002.

A Case of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

Sun Hee Choi, Ju Hee Sung, Sa Jun Jung, Chong Woo Bae

Department of Pediatrics, College of Medicine, Kyunghee University, Seoul, Korea. baecwkmc@zaigen.co.kr

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 1례

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Abstract

Ectrodactyly (lobster-claw hand or foot), ectodermal dysplasia and cleft lip or palate constitute a rare clinical syndrome of congenital anomalies, commonly called ectrodactyly- ectodermal dysplasia-clefting (EEC) syndrome. Clinical manifestations of EEC syndrome are variable. This disorder is transmitted by autosomal dominant inheritance and thought to be controlled by single gene. This patient is two month old female who has typical ectrodactyly or lobster-claw hand and foot and cleft palate compatible with EEC syndrome. A brief report of a case with review of literature is given.

Key Words: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome