title: The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases.
abstract: We report five patients from two different pedigrees with the ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). All had features of ectodermal dysplasia, but only three had limb ectrodactyly and orofacial clefting. The present patients illustrate the great phenotypic variability in the EEC syndrome. As no single feature, including any of the three cardinal signs, is mandatory for syndrome diagnosis, a meticulous examination of all family members is needed.
authors.affiliation: Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Spain.
authors.forename: Xavier
authors.initials: X
authors.lastname: Bigatà
authors.forename: Isabel
authors.initials: I
authors.lastname: Bielsa
authors.forename: Merce
authors.initials: M
authors.lastname: Artigas
authors.forename: Antoni
authors.initials: A
authors.lastname: Azón
authors.forename: Miquel
authors.initials: M
authors.lastname: Ribera
authors.forename: Carlos
authors.initials: C
authors.lastname: Ferrándiz
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D002648:Child; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011379:Prognosis; D012494:Sampling Studies; D013576:Syndactyly / Q000150:complications / Q000175:diagnosis / Q000601:surgery; D013577:Syndrome