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.
MeSH terms
-
Abnormalities, Multiple / diagnosis*
-
Adolescent
-
Adult
-
Child
-
Cleft Palate / diagnosis
-
Cleft Palate / genetics*
-
Ectodermal Dysplasia / diagnosis
-
Ectodermal Dysplasia / genetics*
-
Female
-
Foot Deformities, Congenital / diagnosis
-
Foot Deformities, Congenital / genetics*
-
Genetic Testing*
-
Hand Deformities, Congenital / diagnosis
-
Hand Deformities, Congenital / genetics*
-
Humans
-
Male
-
Middle Aged
-
Pedigree
-
Prognosis
-
Sampling Studies
-
Syndactyly / complications
-
Syndactyly / diagnosis
-
Syndactyly / surgery
-
Syndrome