Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome.
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 Up to now, the association anal atresia-EEC syndrome has been noted in 4 other unpublished patients indicating that anal atresia may constitute another true manifestation of this autosomal dominant syndrome with variable expression.
De Smet
L
L
Orthopaedic Department, University Hospital Pellenberg, University of Leuven, Belgium.
Fryns
J P
JP
D001006:Anus, Imperforate / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant / Q000235:genetics; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome