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Ectodermal dysplasia/ectrodactyly in monozygotic female twins. report of a case review and comments on the ectodermal dysplasia/ectrodactyly (cleft lip/palate) syndromes

A. Richieri-Costar ^I,II; Sergio A. de Vilhena-Moraes^II; I. Ferrareto^II; D. Masiero^II

^IDepartamento de Genética, Instituto Básico de Biologia Médica e Agrícola de Botucatu, UNESP, 18610 Botucatu, SP, Brasil. Send correspondence to A.R.-C.
^IIAssociação de Assistência à Criança Defeituosa de São Paulo, Av. Prof. Ascendino Reis, 724, Caixa Postal 8334, 04027 São Paulo, SP, Brasil

ABSTRACT

Monozygotic (MZ) twin sisters, both presenting ectrodactyly and ectodermal dysplasia, are reported. The absence of cleft lip/palate, tear duct anomalies and urinary tract anomalies (among other less common signs of the EEC syndrome) raise a question about the clinical diagnosis of these patients. Considering these absent cardinal signs and the wide variability existing in the clinical manifestations of the EEC syndrome, the cases here reported most likely represent an "incomplete" form of the EEC syndrome (or the ectodermal dysplasia/ectrodactyly [EE] syndrome). To our knowledge this is the first report on ectodermal dysplasia/ectrodactyly in MZ twins. Clinical and genetical aspects of the syndromes involving ectodermal dysplasia/ectrodactyly (and cleft lip/palate) are discussed.

Keywords: dysplasia; ectrodactyly; monozygotic; syndromes.

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