Abstract
We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.
MeSH terms
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Abnormalities, Multiple / genetics*
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Adolescent
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Adult
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Child
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Child, Preschool
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Diagnosis, Differential
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Ectodermal Dysplasia / genetics*
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Female
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Foot Deformities, Congenital / genetics
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Genes, Dominant
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Hand Deformities, Congenital / genetics*
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Humans
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Infant
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Infant, Newborn
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Lacrimal Apparatus / abnormalities
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Limb Deformities, Congenital
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Male
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Mouth Abnormalities / diagnosis
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Mouth Abnormalities / genetics*
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Pedigree
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Syndrome