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Anais Brasileiros de Dermatologia
On-line version ISSN 1806-4841
TROPE, Beatriz Moritz et al. Do you know this syndrome?. An. Bras. Dermatol. [online]. 2010, vol.85, n.4, pp.573-575. ISSN 1806-4841. http://dx.doi.org/10.1590/S0365-05962010000400027.
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.
Keywords : cleft lip; cleft palate; ectodermal dysplasia; syndrome.