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  • Title: Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome.
    Author: Trope BM, Salomão JN, Costa VD, Verde RB, Barros DS.
    Journal: An Bras Dermatol; 2010; 85(4):573-5. PubMed ID: 20944926.
    Abstract:
    Ectrodactyly - ectodermal dysplasia - cleft lip/palate syndrome (EEC) is a rare autosomal dominant genetic disorder, with variable expression and penetrance. This congenital disorder is associated either with a mutation in chromosome 7 or with a translocation between chromosomes 7 and 9, reflected primarily in the abnormalities listed in its name. This case report describes a 35-year-old male with syndromic stigmata since birth and no cleft lip/palate. Four relatives are also affected by the condition.
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