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Published on: November 6, 2014
Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly
Naveen Sankhyan1, Ram Krishan Kaushal, Sandip Sarin
1Department of Pediatrics, Indira Gandhi Medical College. nsankhyan@rediffmail.com
Abstract:
The ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant dysplasia syndrome, whose pleiotropic effects involve mainly ectodermal structures. The most common clinical manifestations are ectodermal dysplasia, ectrodactyly , cleft lip/palate, and tear-duct anomalies. Very rarely the ectrodactyly may be absent, and skeletal abnormalities may be subtle. We present a 44-month-old girl who had features of EEC syndrome but without the classic ectrodactyly.
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