De Smet L, Fryns J P
Orthopaedic Department, University Hospital Pellenberg, University of Leuven, Belgium.
Genet Couns. 1995;6(2):127-30.
In this report we document the concurrence of a large omphalocoele and anal atresia in a female newborn with EEC syndrome (Ectodermal dysplasia-Ectrodactyly-Cleft palate). Up to now, the association anal atresia-EEC syndrome has been noted in 4 other unpublished patients indicating that anal atresia may constitute another true manifestation of this autosomal dominant syndrome with variable expression.
