1. Academic Validation
  2. Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome

Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome

  • An Bras Dermatol. 2010 Jul-Aug;85(4):573-5. doi: 10.1590/s0365-05962010000400027.
Beatriz Moritz Trope 1 Jaline Noronha Salomão Violeta Duarte Tortelly Costa Renata Brandão Villa Verde Deiseluci Sant'anna Barros
Affiliations

Affiliation

  • 1 Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil. [email protected]
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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