EEC syndrome: report on 20 new patients, clinical and genetic considerations.
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.
Rodini
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Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.
Richieri-Costa
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D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007765:Lacrimal Apparatus / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D008297:Male; D009056:Mouth Abnormalities / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome