The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases.
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.
Bigatà
Xavier
X
Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Spain.
Bielsa
Isabel
I
Artigas
Merce
M
Azón
Antoni
A
Ribera
Miquel
M
Ferrándiz
Carlos
C
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