TY - JOUR
T1 - The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): Report of five cases
AU - Bigatà, Xavier
AU - Bielsa, Isabel
AU - Artigas, Merce
AU - Azón, Antoni
AU - Ribera, Miquel
AU - Ferrándiz, Carlos
PY - 2003/3/1
Y1 - 2003/3/1
N2 - 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.
AB - 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.
U2 - 10.1046/j.1525-1470.2003.20203.x
DO - 10.1046/j.1525-1470.2003.20203.x
M3 - Article
SN - 0736-8046
VL - 20
SP - 113
EP - 118
JO - Pediatric Dermatology
JF - Pediatric Dermatology
IS - 2
ER -